139 results on '"Andries Westerveld"'
Search Results
2. Amplification of 17p11.2∼p12, including PMP22, TOP3A, and MAPK7, in high-grade osteosarcoma
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Peter W.A. Cornelissen, Maaike van Dartel, Ingrid Gomes, Pancras C.W. Hogendoorn, Theo J. M. Hulsebos, S. Redeker, Maija Tarkkanen, Johannes Bras, Sakari Knuutila, and Andries Westerveld
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Cancer Research ,Candidate gene ,Oncogene ,Biology ,medicine.disease_cause ,medicine.disease ,law.invention ,law ,Genetic marker ,Gene duplication ,Genetics ,medicine ,Cancer research ,Microsatellite ,Osteosarcoma ,Carcinogenesis ,neoplasms ,Molecular Biology ,Polymerase chain reaction - Abstract
Amplification of region 17p11.2 approximately p12 has been found in 13%-29% of high-grade osteosarcomas, suggesting the presence of an oncogene or oncogenes that may contribute to their development. To determine the location of these putative oncogenes, we established 17p11.2 approximately p12 amplification profiles by semiquantitative PCR, using 15 microsatellite markers and seven candidate genes in 19 high-grade osteosarcomas. Most of the tumors displayed complex amplification profiles, with frequent involvement of marker D17S2041 in 17p12 and TOP3A in 17p11.2 and, in some cases, very high-level amplification of PMP22 and MAPK7 in 17p11.2. Our findings suggest that multiple amplification targets, including PMP22, TOP3A, and MAPK7 or genes close to these candidate oncogenes, may be present in 17p11.2 approximately p12 and thus contribute to osteosarcoma tumorigenesis.
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- 2002
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3. P3 Event-Related Potential, Dopamine D2 Receptor A1 Allele, and Sensation-Seeking in Adult Children of Alcoholics
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Anton N. M. Schoffelmeer, Odin van der Stelt, Joelle E. Ratsma, Andries Westerveld, and W. Boudewijn Gunning
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medicine.medical_specialty ,Medicine (miscellaneous) ,Toxicology ,Psychiatry and Mental health ,Disinhibition ,Dopamine receptor D2 ,Genotype ,medicine ,Sensation seeking ,Allele ,medicine.symptom ,Risk factor ,Psychiatry ,Psychology ,Oddball paradigm ,Adult Children of Alcoholics ,Clinical psychology - Abstract
Background : Research has indicated a close relationship between the P3 event-related potential and the dopamine D2 receptor A1 allele in individuals at high risk for alcoholism. Other research has suggested an association between the dopamine D2 receptor A1 allele and sensation-seeking. In this study, we further examined the relationships between the P3, the A1 allele, and sensation-seeking in a sample of nonalcoholic adult children of alcoholics. Methods: Participants (n= 57; range, 19–30 years; 41 women), who performed a visual novelty oddball task to elicit the P3, were asked to fill in personality questionnaires, including Zuckerman's Sensation-Seeking Scale, and were classified according to the presence of the dopamine D2 receptor A1 allele. The effects of sex, age, and socioeconomic status were assessed to determine whether these variables affected the relations between the P3, the A1 allele, and sensation-seeking. Results: A small P3 amplitude was associated with high sensation-seeking, particularly with high disinhibition. The presence of the A1 allele was also associated with high disinhibition, but only in men. By contrast, P3 amplitudes and latencies were not associated with the presence of the A1 allele. Conclusions: Although a small P3 amplitude, high sensation-seeking, and the presence of the A1 allele were all associated with alcoholism risk, these findings indicate that these three characteristics together do not reflect a common risk factor in alcoholism.
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- 2001
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4. Duplication and transposition of the NF1 pseudogene regions on chromosomes 2, 14, and 22
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Nobuyoshi Shimizu, Theo J. M. Hulsebos, Shinsei Minoshima, Andries Westerveld, M. Luijten, S. Redeker, and Other departments
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Male ,Neurofibromatosis 1 ,Chromosomes, Human, Pair 22 ,Pseudogene ,Hybrid Cells ,Biology ,Polymerase Chain Reaction ,Translocation, Genetic ,Homology (biology) ,Mice ,Gene Duplication ,Chromosome regions ,Genes, Neurofibromatosis 1 ,Gene duplication ,Genetics ,medicine ,Animals ,Humans ,Gene ,In Situ Hybridization, Fluorescence ,Genetics (clinical) ,DNA Primers ,Genomic organization ,Chromosomes, Human, Pair 14 ,Base Sequence ,medicine.diagnostic_test ,Chromosomes, Human, Pair 2 ,Human genome ,Pseudogenes ,Fluorescence in situ hybridization - Abstract
Numerous NF1 pseudogenes have been identified in the human genome. Those in 2q21, 14q11, and 22q11 form a subset with a similar genomic organization and a high sequence homology. We have studied, by polymerase chain reaction and fluorescence in situ hybridization, the extent of homology of the regions surrounding these NF1 pseudogenes. Our analyses have demonstrated that a fragment of at least 640 kb is homologous between the three regions. Based on previous studies and these new findings, we propose a model for the spreading of the NF1 pseudogene-containing regions. A fragment of approximately 640 kb was first duplicated in chromosome region 2q21 and transposed to 14q11. Subsequently, this fragment was duplicated in 14q11 and transposed to 22q11. A part of the 640-kb fragment in 14q11, with a length of about 430 kb, was further duplicated to a variable extent in 14q11. In addition, we have identified sequences that may facilitate the duplication and transposition of the 640-kb and 430-kb fragments.
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- 2001
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5. Limited contribution of interchromosomal gene conversion to NF1 gene mutation
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C. Mischung, R. Fahsold, M. Luijten, Peter Nürnberg, Theo J. M. Hulsebos, Andries Westerveld, Other departments, and Faculteit der Geneeskunde
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congenital, hereditary, and neonatal diseases and abnormalities ,Mutation rate ,Pseudogene ,DNA Mutational Analysis ,Gene Conversion ,Gene mutation ,Biology ,03 medical and health sciences ,Exon ,Genetics ,Gene family ,Chromosomes, Human ,Humans ,Gene conversion ,Letters to the Editor ,neoplasms ,Gene ,Genetics (clinical) ,030304 developmental biology ,0303 health sciences ,Neurofibromin 1 ,PKD1 ,Base Sequence ,030305 genetics & heredity ,Exons ,nervous system diseases ,3. Good health ,Mutagenesis ,Mutation ,Pseudogenes - Abstract
Editor—Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders with a population frequency of 1 in 3500.1 The disease is clinically characterised by multiple neurofibromas, cafe au lait spots and Lisch nodules of the iris. The NF1 gene, a tumour suppressor gene, resides on the proximal long arm of chromosome 17 (17q11.2). It spans approximately 350 kb of genomic DNA and, comprising 60 exons, encodes the protein neurofibromin.2 This protein, consisting of 2818 amino acids, contains a central domain that has homology with GTPase activating proteins (GAPs).3 A distinct feature of the NF1 gene is the very high spontaneous mutation rate (1 × 10-4 per gamete per generation), which is about 100-fold higher than the usual mutation rate for a single locus.1 Up to 50% of all NF1 cases are thought to result from de novo mutations. The NF1 gene provides a large target for mutations because of its relatively large size, but this may only account for a factor of 10 in terms of increase in mutation rate.4 The presence of numerous NF1 pseudogenes has been proposed as an explanation for the high mutation rate in NF1.5 In the human genome, at least 12 different NF1 related sequences have been identified on chromosomes 2, 12, 14, 15, 18, 21, and 22.5-13 Most of the NF1 pseudogenes have been mapped in pericentromeric regions. The chromosome 2 NF1 pseudogene has been localised to region 2q21, which is known to contain the remnant of an ancestral centromere.14 Owing to the absence of selective pressure, mutations may accumulate in the NF1 pseudogenes. Consequently, the pseudogenes could act as reservoirs of mutations, which might be crossed into the functional NF1 gene by interchromosomal gene conversion.5 Gene conversion, the …
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- 2001
6. Genetics of Beckwith‐Wiedemann syndrome‐associated tumors: Common genetic pathways
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Marja Steenman, Marcel M.A.M. Mannens, and Andries Westerveld
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Genetics ,congenital, hereditary, and neonatal diseases and abnormalities ,Cancer Research ,Beckwith–Wiedemann syndrome ,Chromosome ,Biology ,medicine.disease ,Chromosome Band ,Chromosome regions ,Etiology ,medicine ,Adrenocortical carcinoma ,Rhabdomyosarcoma ,Gene - Abstract
A specific subset of solid childhood tumors-Wilms' tumor, adrenocortical carcinoma, rhabdomyosarcoma, and hepatoblastoma-is characterized by its association with Beckwith-Wiedemann syndrome. Genetic abnormalities found in these tumors affect the same chromosome region (11p15), which has been implicated in the etiology of Beckwith-Wiedemann syndrome. This suggests that the development of these tumors occurs along a common genetic pathway involving chromosome 11. To search for additional common genetic pathways, this article reviews the genetic data published for these tumors. It was found that, up until now, the only genetic abnormalities detected in all four tumors affect chromosome band 11p15 and the TP53 gene. In addition, there are several aberrations that occur in two or three of the neoplasms. It is concluded that, of the four tumors, the genetic relationship is most evident between Wilms' tumor and rhabdomyosarcoma.
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- 2000
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7. Type III Collagen Deficiency in Saccular Intracranial Aneurysms
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J.S.P. van den Berg, Martien Limburg, Gerard Pals, K. W. Albrecht, Fré Arwert, Andries Westerveld, R. C. M. Hennekam, and Other departments
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Genetic Markers ,Pathology ,medicine.medical_specialty ,Biopsy ,Pathofysiologie van Hersenen en Gedrag ,Pathophysiology of Brain and Behaviour ,Polymerase Chain Reaction ,Pathogenesis ,Aneurysm ,Polymorphism (computer science) ,medicine ,Humans ,Point Mutation ,RNA, Messenger ,cardiovascular diseases ,Allele ,Alleles ,Cells, Cultured ,Polymorphism, Single-Stranded Conformational ,Skin ,Advanced and Specialized Nursing ,Regulation of gene expression ,medicine.diagnostic_test ,business.industry ,Intracranial Aneurysm ,DNA ,Exons ,Fibroblasts ,Prognosis ,medicine.disease ,Null allele ,Gene Expression Regulation ,Tandem Repeat Sequences ,Skin biopsy ,cardiovascular system ,Collagen ,Neurology (clinical) ,Cardiology and Cardiovascular Medicine ,business - Abstract
Background and Purpose —We sought to determine whether there are mutations in the COL3A1 gene in patients with saccular intracranial aneurysms with a type III collagen deficiency and whether there is an association between a marker in the COL3A1 gene and saccular intracranial aneurysms. One of the heritable factors possibly involved in the pathogenesis of saccular intracranial aneurysms is a reduced production of type III collagen, demonstrated earlier by protein studies. Methods —We analyzed the type III collagen gene in a group of 41 consecutive patients with an intracranial aneurysm, of whom 6 patients had shown a reduced production of type III collagen in cultured diploid fibroblasts from a skin biopsy. Results —No mutations could be demonstrated in the COL3A1 gene, especially not in the globular N- and C-terminal regions. A null allele was excluded in 25 patients, including 1 patient with a decreased type III collagen production. No differences were found between 41 patients and 41 controls in allele frequencies of a DNA tandem repeat polymorphism located in the COL3A1 gene. Conclusions —It is concluded that the COL3A1 gene is not directly involved in the pathogenesis of most of intracranial aneurysms. The reduced type III collagen production in cultured fibroblasts found in some patients with an intracranial aneurysm is not explained by the present study and needs further exploration.
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- 1999
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8. Comparative genomic hybridization analysis of hepatoblastomas: additional evidence for a genetic link with Wilms tumor and rhabdomyosarcoma
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Andries Westerveld, Gail E. Tomlinson, Marja Steenman, Marcel M.A.M. Mannens, and Other departments
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Hepatoblastoma ,Beckwith-Wiedemann Syndrome ,Beckwith–Wiedemann syndrome ,Aneuploidy ,Chromosome Disorders ,Biology ,Wilms Tumor ,Chromosome regions ,Rhabdomyosarcoma ,Genetics ,medicine ,Humans ,Genetic Testing ,Age of Onset ,Molecular Biology ,Genetics (clinical) ,Chromosome Aberrations ,Genome, Human ,Infant ,Nucleic Acid Hybridization ,Chromosome ,Wilms' tumor ,medicine.disease ,Kidney Neoplasms ,Child, Preschool ,Chromosome Deletion ,Virtual karyotype ,Comparative genomic hybridization - Abstract
We applied the technique of comparative genomic hybridization (CGH) to a series of 16 hepatoblastomas. Our goals were (1) to identify all quantitative chromosome abnormalities that appear in this type of tumor and (2) to compare the results with data from similar studies on other tumors associated with the Beckwith-Wiedemann syndrome (BWS). We found that the most commonly detected (> 30%) chromosome abnormalities were gains of chromosomes 1, 2, 7, 8, and 17. Losses of chromosomes were found in only a few cases. On comparing our results with those from studies on the BWS-associated tumors, Wilms tumor and rhabdomyosarcoma, it became clear that three chromosome regions, namely, 7q, 8q, and 17q, were the ones most commonly involved in all three types of tumors. These regions, therefore, may harbor genes that play a role in the etiology of BWS-associated tumors in general.
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- 1999
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9. Retinitis Pigmentosa
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E.M. Bleeker-Wagemakers, P.T.V.M. de Jong, Andries Westerveld, Arthur A.B. Bergen, and S. van Soest
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Genetics ,Mutation ,Retinal pigment epithelium ,genetic structures ,biology ,Peripherin ,medicine.disease ,medicine.disease_cause ,Phenotype ,eye diseases ,Ophthalmology ,medicine.anatomical_structure ,Rhodopsin ,Retinitis pigmentosa ,medicine ,biology.protein ,sense organs ,Retinal Dystrophies ,Visual phototransduction - Abstract
Retinitis pigmentosa (RP) denotes a group of hereditary retinal dystrophies, characterized by the early onset of night blindness followed by a progressive loss of the visual field. The primary defect underlying RP affects the function of the rod photoreceptor cell, and, subsequently, mostly unknown molecular and cellular mechanisms trigger the apoptotic degeneration of these photoreceptor cells. Retinitis pigmentosa is very heterogeneous, both phenotypically and genetically. In this review we propose a tentative classification of RP based on the functional systems affected by the mutated proteins. This classification connects the variety of phenotypes to the mutations and segregation patterns observed in RP. Current progress in the identification of the molecular defects underlying RP reveals that at least three distinct functional mechanisms may be affected: 1) the daily renewal and shedding of the photoreceptor outer segments, 2) the visual transduction cascade, and 3) the retinol (vitamin A) metabolism. The first group includes the rhodopsin and peripherin/RDS genes, and mutations in these genes often result in a dominant phenotype. The second group is predominantly associated with a recessive phenotype that results, as we argue, from continuous inactivation of the transduction pathway. Disturbances in the retinal metabolism seem to be associated with equal rod and cone involvement and the presence of deposits in the retinal pigment epithelium.
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- 1999
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10. Fine mapping of a region of common deletion on chromosome arm 10p in human glioma
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Annet M. J. Voesten, Engelien H. Bijleveld, Theo J. M. Hulsebos, Andries Westerveld, and Other departments
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Genetics ,Cancer Research ,Tumor suppressor gene ,Astrocytoma ,Chromosome ,Biology ,medicine.disease ,medicine.disease_cause ,nervous system diseases ,Chromosome 15 ,Chromosome Arm ,Glioma ,medicine ,Carcinogenesis ,Chromosome 21 ,neoplasms - Abstract
Allelic loss on chromosome 10 is a frequent event in high grade gliomas. Earlier studies have shown that in most cases a complete copy of chromosome 10 is lost in the tumor. To define more accurately and specifically the region of common deletion on chromosome arm 10p, we have screened a large series of gliomas for allelic losses that exclusively affect this part of the chromosome. Allelic loss profiles were determined for 127 gliomas, including 118 astrocytomas of various malignancy grades. Seventeen tumors displayed loss of part of chromosome 10. In three of these, only chromosome arm 10p sequences were lost. The interval between loci D10S559 and D10S1435 in 10p15, with a length of approximately 800 kilobase pairs, was commonly deleted in the latter tumors, suggesting that this region may harbor a tumor suppressor gene important in glioma tumorigenesis. Comparison of the allelic loss profiles in the low and high grade astrocytomas revealed that astrocytoma progression is associated with increased loss of chromosome 10 sequences. Genes Chromosomes Cancer 20:167–172, 1997. © 1997 Wiley-Liss, Inc.
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- 1997
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11. Malignant astrocytoma-derived region of common amplification in chromosomal band 17p12 is frequently amplified in high-grade osteosarcomas
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Engelien H. Bijleveld, Theo J. M. Hulsebos, Niels T. Oskam, Johannes Bras, Andries Westerveld, Sieger Leenstra, Pancras C.W. Hogendoorn, Faculteit der Geneeskunde, and Other departments
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Yeast artificial chromosome ,Genetics ,Cancer Research ,Contig ,Oncogene ,Astrocytoma ,Cancer ,Malignant astrocytoma ,Biology ,medicine.disease ,medicine.disease_cause ,medicine ,Cancer research ,sense organs ,Carcinogenesis ,neoplasms ,Comparative genomic hybridization - Abstract
Recently, we reported a new amplification event that involves marker D17S67 in 17p12 in three malignant astrocytomas of patients with a very short survival. The amplified region may contain an oncogene implicated in astrocytoma tumorigenesis. To determine the extent of the amplified regions, we constructed a yeast artificial chromosome contig spanning the D17S67 region and tested the amplification status of markers that map to the contig. We determined a commonly amplified region between markers D17S1311 and D17S1875 with a maximal length of 1,630 kb. By using marker 745R, from within the commonly amplified region, we screened 60 high-grade astrocytomas but could not detect additional tumors with the amplification event. This suggests that the incidence of the amplification event in high-grade astrocytoma is low (5%). It has recently been shown by comparative genomic hybridization that amplification of 17p11‐p12 is a frequent event in high-grade osteosarcomas, occurring in 20‐30% of cases. Since the commonly amplified region is within 17p12, we tested 745R in 20 osteosarcomas, including 6 lung metastases, and detected amplification in 9 cases (45%). Marker 745R was found to be amplified in 4 of the 6 lung metastases (66%). From this frequent involvement and the association with clinically aggressive astrocytomas we conclude that for both tumor types presence of the amplification event seems to correlate with aggressive clinical behaviour.Genes Chromosom. Cancer 18:279‐285, 1997. r 1997 Wiley-Liss, Inc.
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- 1997
12. Positional cloning of genes involved in the Beckwith-Wiedemann syndrome, hemihypertrophy, and associated childhood tumors
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Rosalyn Slater, Marja Steenman, Peter Little, Jan de Kraker, Jan M.N. Hoovers, Jet Bliek, Marielle Alders, Andries Westerveld, Andy Ryan, Tom Voûte, Carien Wiesmeyer, Marcel M.A.M. Mannens, B. Redeker, Maurice de Meulemeester, Linda M. Kalikin, Andrew P. Feinberg, and Other departments
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Adult ,Heterozygote ,Cancer Research ,Candidate gene ,Beckwith-Wiedemann Syndrome ,Transcription, Genetic ,Positional cloning ,Chromosome Breakpoints ,Beckwith–Wiedemann syndrome ,Growth ,Biology ,Loss of heterozygosity ,Genomic Imprinting ,Neoplasms ,Chromosome regions ,medicine ,Humans ,Cloning, Molecular ,Child ,Growth Disorders ,Gene Rearrangement ,Genetics ,Base Sequence ,Genetic heterogeneity ,Chromosomes, Human, Pair 11 ,Chromosome Mapping ,Zinc Fingers ,medicine.disease ,Molecular biology ,Gene Expression Regulation ,Oncology ,Pediatrics, Perinatology and Child Health ,Gene Deletion ,Comparative genomic hybridization - Abstract
The Beckwith-Wiedemann syndrome (BWS) is an overgrowth malformation syndrome that occurs with an incidence of 1:13,700 births. There is a striking incidence of childhood tumors found in BWS patients. Various lines of investigation have localized "imprinted" genes involved in BWS and associated childhood tumors to 11p15. High resolution mapping of 8 rare balanced chromosomal BWS rearrangements enabled us to identify three distinct regions on chromosome 11p15 that might harbor genes involved in the above-mentioned disorders. These results suggest genetic heterogeneity that correlates with the clinical heterogeneity seen in the patients studied. Expressed candidate gene sequences from these regions have been cloned and partly sequenced. These transcripts are either disrupted by or are at least within a few kb of these BWS chromosome breakpoints. So far, zinc-finger sequences and one Kruppel-associated box (KRAB) domain were found in independent candidate genes which are compatible with a regulating function of growth promoting genes. The abundance of expression of these genes varies from low abundant in all adult and fetal tissues tested to detectable on Northern blots of adult tissues. In addition to our 11p15 studies we have analyzed additional chromosome regions, in particular 1p. Cytogenetic, loss of heterozygosity (LOH) and comparative genomic hybridization (CGH) studies have identified 1p35 as a region of interest. A positional cloning effort to identify a balanced 1p35 translocation found in a Wilms tumor has led to the isolation of a YAC, crossing this breakpoint.
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- 1996
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13. Assignment of the βB1 Crystallin Gene (CRYBB1) to Human Chromosome 22 and Mouse Chromosome 5
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Luc J. Smink, Andries Westerveld, Gilles Thomas, Ian Dunham, Theo J. M. Hulsebos, Debra J. Gilbert, Neal G. Copeland, Olivier Delattre, Nancy A. Jenkins, and Other departments
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Chromosomes, Human, Pair 22 ,Molecular Sequence Data ,Hybrid Cells ,Biology ,Mice ,Exon ,Species Specificity ,Crystallin ,Sequence Homology, Nucleic Acid ,Genetics ,Animals ,Humans ,Beta (finance) ,Gene ,Gene Library ,Base Sequence ,Somatic Cell Hybrids ,Genetic Complementation Test ,Chromosome Mapping ,Chromosome ,Exons ,Cosmids ,Crystallins ,Molecular biology ,Rats ,Beta-Crystallin ,Cattle ,Chromosome 22 - Abstract
By using primers complementary to the rat beta B1 crystallin gene sequence, we amplified exons 5 and 6 of the orthologous human gene (CRYBB1). The amplified human segments displayed greater than 88% sequence homology to the corresponding rat and bovine sequences. CRYBB1 was assigned to the group 5 region in 22q11.2-q12.1 by hybridizing the exon 6 PCR product to somatic cell hybrids containing defined portions of human chromosome 22. The exon 5 and exon 6 PCR products of CRYBB1 were used to localize, by interspecific backcross mapping, the mouse gene (Crybb1) to the central portion of chromosome 5. Three other beta crystallin genes (beta B2(-1), beta B3, and beta A4) have previously been mapped to the same regions in human and mouse. We demonstrate that the beta B1 and beta A4 crystallin genes are very closely linked in the two species. These assignments complete the mapping and identification of the human and mouse homologues of the major beta crystallins genes that are expressed in the bovine lens.
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- 1995
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14. Balanced translocation in a neuroblastoma patient disrupts a cluster of small nuclear RNA UI and tRNA genes in chromosomal band Ip36
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Grace Sickmann, Genevieve Laureys, Rogier Versteeg, Andries Westerveld, Franki Speleman, Alvin Chan, Pauline van der Drift, Nadine Van Roy, and Johan T. den Dunnen
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Yeast artificial chromosome ,Genetics ,Cancer Research ,medicine.diagnostic_test ,Breakpoint ,RNA ,Translocation Breakpoint ,Chromosomal translocation ,Biology ,Molecular biology ,medicine ,Gene ,Small nuclear RNA ,Fluorescence in situ hybridization - Abstract
Chromosomal band 1p36 probably harbours several neuroblastoma suppressor genes. A neuroblastoma patient has been described with a constitutional balanced translocation, t(1;17)(p36;q12-21). Cytogenetically, no loss of chromosomal material was visible. The 1p36 translocation breakpoint could therefore have inactivated one allele of a tumour suppressor gene, thus predisposing the patient to develop neuroblastoma. We localized this breakpoint by pulsed field gel electrophoresis, analysis of yeast artificial chromosomes, and fluorescence in situ hybridization. Here we report that the breakpoint is within a large cluster of small nuclear RNA U1 (RNU1) and some tRNA genes (TRE, TRN) on chromosomal band 1p36. The size of this cluster is over two megabases and it contains many other locally repeated sequences. Polyadenylated transcripts were identified for some of these sequences. In addition, the cluster is the target for integration of an adenovirus 5/SV40 hybrid virus. The translocation breakpoint maps distal of this viral integration site and proximal of marker PND.
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- 1995
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15. 1p36: Every subband a suppressor?
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Rogier Versteeg, H.N. Caron, P.A. Voǔte, Andries Westerveld, Rosalyn Slater, P van der Drift, N C Cheng, Franki Speleman, N. Van Roy, Olivier Delattre, Genevieve Laureys, and Other departments
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Cancer Research ,business.industry ,Histocompatibility Antigens Class I ,Genes, myc ,Computational biology ,Methylation ,Translocation, Genetic ,law.invention ,Neuroblastoma ,Text mining ,Oncology ,Antigens, Neoplasm ,Chromosomes, Human, Pair 1 ,law ,Humans ,Medicine ,Suppressor ,Genes, Tumor Suppressor ,Chromosome Deletion ,business - Published
- 1995
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16. Evidence for two tumour suppressor loci on chromosomal bands 1p35–36 involved in neuroblastoma: one probably imprinted, another associated with N-myc amplification
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Laurence Brugières, Andries Westerveld, Frank Speleman, P.A. Voûte, Genevieve Laureys, Jan de Kraker, Huib N. Caron, Rosalyn Slater, Jean Michon, Rogier Versteeg, Olivier Delattre, Martine Peter, and Peter van Sluis
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Heterozygote ,Tumor suppressor gene ,Genes, myc ,Mothers ,Biology ,Loss of heterozygosity ,Genomic Imprinting ,Neuroblastoma ,Gene mapping ,Gene duplication ,Genetics ,Humans ,Molecular Biology ,Genetics (clinical) ,Southern blot ,Gene Amplification ,Chromosome Mapping ,Chromosome ,General Medicine ,Molecular biology ,Chromosomes, Human, Pair 1 ,Female ,Chromosome Deletion ,Genomic imprinting ,N-Myc - Abstract
Previous reports on possible genomic imprinting of the neuroblastoma tumour suppressor gene on chromosome 1p36 have been conflicting. Here we report on the parental origin of 1p36 alleles lost in 47 neuroblastomas and on a detailed Southern blot analysis of the extent of the 1p deletions in 38 cases. The results are remarkably different for tumours with and without N-myc amplification. In the N-myc single copy tumours we show that the lost 1p36 alleles are of preferential maternal origin (16 of 17 cases) and that the commonly deleted region maps to 1p36.2-3. In contrast, all N-myc amplified neuroblastomas have larger 1p deletions, extending from the telomere to at least 1p35-36.1. These deletions are of random parental origin (18 of 30 maternal LOH). This strongly suggests that different suppressor genes on 1p are inactivated in these two types of neuroblastoma. Deletion of a more proximal suppressor gene is associated with N-myc amplification, while a distal, probably imprinted, suppressor can be deleted in N-myc single copy cases.
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- 1995
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17. Contents, Vol. 68, 1995
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M. Bauer, H. Tran, C. Shasserre, R.A. Langlois, S.N. Ho, W.S. Argraves, R.R. Swiger, E. Baker, H. Prydz, J.J. Cassiman, L. De Gruyter, F. Richard, U. Francke, L.A. Timmerman, David I. Smith, J.G. Eveleth, M.N. Cornforth, X. Li, I. Vercaeren, D. Blakey, G.R. Crabtree, C.L. Barcroft, W.L. Flejter, M. Bina, C.W. Richard, D. Schuppan, R.A. Sturm, J. Giacalone, G. Brede, C. Dannenberg, L.G. Littlefield, Robin J. Leach, C. Szpirer, H. Herbst, W. Rombauts, J. Zhang, Y. Zhang, D.J. Thomas, X.-N. Chen, B. Dutrillaux, Y. Nakamura, G.R. Sutherland, David F. Callen, M. Muleris, M. Bauchinger, E. Frengen, C. Fonatsch, M. Rivière, J. Szpirer, Egbert J.W. Redeker, Thomas W. Glover, A.T. Natarajan, A. Devos, V. Smets, G. Skretting, J.W. Breneman, Marielle Alders, Marcel M.A.M. Mannens, Jan M.N. Hoovers, W.F. Morgan, B. Peeters, F. Larsen, M.J. Ramsey, J.D. Tucker, K. Sudo, J.L. Minkler, J. Luna, J.R. Korenberg, A.A. Awa, Nigel K. Spurr, Norman A. Doggett, J.G. Wauters, S. Nakatsuru, J. Dumon, Andries Westerveld, S. Schnittger, P.J. Bossuyt, W. Heyns, H.J. Eyre, P. Marynen, and M.-N. Van Tienen
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Botany ,Genetics ,Zoology ,Biology ,Molecular Biology ,Genetics (clinical) - Published
- 1995
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18. An Integrated Physical Map of 210 Markers Assigned to the Short Arm of Human Chromosome 11
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Marcel M.A.M. Mannens, Alasdair C. Ivens, Linda M. Kalikin, Peter Little, Andrew P. Feinberg, Simon G. Gregory, C.J.A. van Moorsel, R. Van Den Bogaard, Jet Bliek, R. van der Voort, Andries Westerveld, L. de Galan, Egbert J.W. Redeker, Jan M.N. Hoovers, Marielle Alders, J. Visser, and Other departments
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Genetic Markers ,Beckwith-Wiedemann Syndrome ,Restriction Mapping ,Chromosome Disorders ,Biology ,Gene mutation ,Cell Line ,Genomic Imprinting ,Gene mapping ,Neoplasms ,Genetics ,medicine ,Humans ,Child ,In Situ Hybridization, Fluorescence ,Chromosome Aberrations ,Contig ,medicine.diagnostic_test ,Gene map ,Chromosomes, Human, Pair 11 ,Breakpoint ,Chromosome Mapping ,Cosmids ,Blotting, Southern ,Chromosome Band ,Cosmid ,Fluorescence in situ hybridization - Abstract
Using a panel of patient cell lines with chromosomal breakpoints, we constructed a physical map for the short arm of human chromosome 11. We focused on 11p15, a chromosome band harboring at least 25 known genes and associated with the Beckwith-Wiedemann syndrome, several childhood tumors, and genomic imprinting. This underlines the need for a physical map for this region. We divided the short arm of chromosome 11 into 18 breakpoint regions, and a large series of new and previously described genes and markers was mapped within these intervals using fluorescence in situ hybridization. Cosmid fingerprint analysis showed that 19 of these markers were included in cosmid contigs. A detailed 10-Mb pulsed-field physical map of the region 11p15.3-pter was constructed. These three different approaches enabled the high-resolution mapping of 210 markers, including 22 known genes.
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- 1994
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19. Type III Collagen Deficiency in a Family with Intracranial Aneurysms
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Fré Arwert, Gerard Pals, Andries Westerveld, Jan S. P. van den Berg, and Martien Limburg
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Adult ,Pathology ,medicine.medical_specialty ,Subarachnoid hemorrhage ,Col3a1 gene ,Pathogenesis ,chemistry.chemical_compound ,Humans ,Medicine ,Allele ,Polymorphism, Single-Stranded Conformational ,Type III collagen ,business.industry ,Intracranial Aneurysm ,DNA ,Middle Aged ,Subarachnoid Hemorrhage ,medicine.disease ,Pedigree ,Neurology ,chemistry ,Collagen metabolism ,Posttranslational modification ,Female ,Collagen ,Neurology (clinical) ,Cardiology and Cardiovascular Medicine ,business - Abstract
We present a family with 2 female cousins with intracranial aneurysms and type III collagen deficiency. DNA analysis revealed no mutations in the COL3A1 gene, encoding type III collagen, and including the segment encoding the C-propeptide of type III collagen. The 2 patients with low type III collagen production and intracranial aneurysms had inherited different type III collagen alleles. The type III collagen deficiency in this family may results from defects during posttranslational modification or from an altered collagen metabolism.
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- 2001
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20. Molecular characterization of chromosome 22 deletions in schwannomas
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Theo J. M. Hulsebos, E. K. Bijlsma, Andries Westerveld, Bosch Da, Brouwer-Mladin R, and Other departments
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Multiple schwannomas ,Nervous system ,Neurofibromatosis 2 ,Cancer Research ,Pathology ,medicine.medical_specialty ,Monosomy ,Tumor suppressor gene ,Chromosomes, Human, Pair 22 ,Locus (genetics) ,Biology ,otorhinolaryngologic diseases ,Genetics ,medicine ,Humans ,Cranial Nerve Neoplasms ,Genes, Tumor Suppressor ,Spinal Cord Neoplasms ,Neurofibromatosis type 2 ,neoplasms ,Cranial nerves ,Neuroma, Acoustic ,Anatomy ,medicine.disease ,nervous system diseases ,Blotting, Southern ,medicine.anatomical_structure ,Chromosome Deletion ,Chromosome 22 ,Neurilemmoma - Abstract
Schwannomas are tumors of the cranial, spinal, and peripheral nerve sheaths that originate from Schwann cells. Acoustic neurinomas are the most frequent cranial schwannomas. They might develop sporadically or in the context of neurofibromatosis type 2 (NF2). Loss of part or all of chromosome 22 is frequently found in acoustic schwannomas, suggesting that the NF2 gene is a tumor suppressor gene involved in the genesis of these tumors. Only a few spinal schwannomas have been molecularly characterized so far, showing that chromosome 22 loss might also occur in these tumors. Here we present the molecular analysis of chromosome 22 in 23 acoustic schwannomas and nine schwannomas of other locations (including other cranial nerves and spinal and peripheral nerves). Most of these tumors were from sporadic cases. Multiple schwannomas of various locations were analyzed in two patients with NF2. We found partial or complete monosomy for chromosome 22 in 22% of the acoustic schwannomas and 55% of the non-acoustic schwannomas. The tumors with partial monosomy included four with terminal deletions and one with a deletion of the centromeric part of the long arm of chromosome 22. The region between the beta B2-1 crystallin locus (CRYB2A) and the myoglobin locus (MB) was commonly deleted in these tumors. Our studies suggest that a schwannoma-related tumor suppressor gene within this region, which might be the NF2 gene, is involved in the development of schwannomas of various locations in the nervous system. Our studies indicate that the second hit in the genesis of different schwannomas within one (predisposed) NF2 patient occurs independently and via different mechanisms.
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- 1992
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21. Contents Vol. 88, 2000
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P.A. Voûte, D. Baudry, C.L. Keck-Waggoner, K. White, P.I. Patel, J.C. McHale, M. Busson-Leconiat, M. Pagano, C. Wiesmeijer, G.W. Conrad, M. Pettenati, P. Staeheli, E.R. Zabarovsky, C. Tiziana Storlazzi, Y. Xie, Z.E. Zehner, E. Gabrielson, C.A. Griffin, C. Geffrotin, E.A. Isakova, P. Spencer, J.E. Hewitt, A. Barbon, E. Sonnhammer, R.M. Schmid, B. Kazmierczak, P. Munclinger, F. Vitelli, N.A. Serdyukova, S.W. Scherer, B.G. Beatty, S. Meloche, M. Schmid, Y. Nakajima, M. Riemann, B. Brintnell, J. Laborda, N. Zijlstra, P.M. Brickell, L.A. James, J. Pellerin, T.K. Kwon, K. Yamakawa, P. van Tuinen, B.S. Klein, H.-J. Han, H. Winton, S.H. Elsea, D. Frynta, Y. Nakamura, M. Guttenbach, L. Carim, V.G. Malikov, M. van Geel, J.C.T. van Deutekom, U. Zechner, S. Barlati, P.A. Kroner, C.N. Vlangos, R. Podowski, N.C. Popescu, M.N. Meyer, I. Kärkkäinen, Ian Dunham, L. Leikepová, S. Beck, M. Escarceller, S. Bonné, F. Favara, S. Fineschi, F. Van Roy, J. Zima, E.S. Tasheva, T.P. Lushnikova, H.C. Duba, A.L. Hawkins, R. Berger, S. Sanders, J.M. Varley, Y. Furukawa, A.V. Polyakov, A. Protopopov, E.R. Werner, R.J.L.F. Lemmers, N. Andreu, A. van Staalduinen, J. Piálek, P.J. de Jong, E. Gubina, P.L. Perelman, L. Sumoy, M. Iizaka, A. Renieri, M. Loda, S. Ferraboli, C. Wahlestedt, M.H. Hofker, K. Vehse, H.M. Cann, C.F. Inglehearn, Lidia Larizza, P. Adamson, M.D. Torres, P. Benda, J. van Hengel, I. Meloni, E. Aikawa, H. Himmelbauer, M.A. Alvarez Soria, O.V. Sablina, E.E. Tarttelin, J. Justesen, R. Gizatullin, M.N. Ahmed, R. Karhu, Andries Westerveld, R.R. Frants, Mariano Rocchi, Cécile Jeanpierre, A. Marquardt, H. Hayes, S. Behrends, M. Erdel, P. Das, D.J Haile, J. Sádlová, R. Godbout, H. Markholst, N.V. Vorobieva, V.A. Trifonov, A.S. Graphodatsky, M. Ogawa, B.H.F. Weber, D.S. Chiaur, A. Duval, Marja Steenman, I. Nanda, C. Von Kap-Her, C. Cenciarelli, Marcel M.A.M. Mannens, K. Imai, W. Parks, T. Ueda, L. Hornum, H. Scholz, H. Akashi, D.L. Kruitbosch, W. Bradford, V. Kashuba, G. Inghirami, A.B. McKie, H. Hameister, K. Gopalbhai, Y. Hey, M.J. Ruiz-Hidalgo, S.S. Thorgeirsson, L.L. Hansen, D.B. Zimonjic, G.W. Padberg, A.J. Mungall, X. Estivill, J. Bullerdiek, D. Demetrick, G. Frelat, M.B. Qumsiyeh, G. Werner-Felmayer, I. Leverkoehne, S. Ganesh, S. Halford, K.-R. Kim, J. Greenwood, N. Kanda, C. Le Chalony, M.C. Dickson, H. Stöhr, J. Trowsdale, K. Amano, R. Hamelin, S. Sugano, S. Liptay, K. Sakamaki, A.-P.J. Huovila, A. Ziegler, A.D. Gruber, G. Zhao, S. Nagata, L. Zhu, V. Baladrón, P.M. Borodin, S. Murthy, D.M. Hunt, and M. Meyer
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Botany ,Genetics ,Biology ,Molecular Biology ,Genetics (clinical) - Published
- 2000
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22. Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells
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Karin van der Lip, Sandra van 't Padje, Alice S. Brooks, Roelof-Jan Oostra, Deborah M. Mackay, Jet Bliek, Andries Westerveld, Marielle Alders, Johnatan L. Callaway, Saskia M. Maas, Nico J. Leschot, Marcel M.A.M. Mannens, Human Genetics, ACS - Amsterdam Cardiovascular Sciences, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Other Research, Paediatric Genetics, Medical Biology, ARD - Amsterdam Reproduction and Development, Pathology, Clinical Genetics, and Molecular Genetics
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Male ,medicine.medical_specialty ,Beckwith-Wiedemann Syndrome ,Genotype ,Buccal swab ,Beckwith–Wiedemann syndrome ,Twins ,Mothers ,Biology ,Article ,Fathers ,Genomic Imprinting ,Genetic linkage ,Pregnancy ,Genetics ,medicine ,Twins, Dizygotic ,Humans ,Allele ,Genetics (clinical) ,Chromosomes, Human, Pair 11 ,Cytogenetics ,Placentation ,Twins, Monozygotic ,DNA Methylation ,medicine.disease ,Hematopoietic Stem Cells ,Phenotype ,DNA methylation ,Female ,Genomic imprinting - Abstract
The Beckwith-Wiedemann syndrome (BWS) is a growth disorder for which an increased frequency of monozygotic (MZ) twinning has been reported. With few exceptions, these twins are discordant for BWS and for females. Here, we describe the molecular and phenotypic analysis of 12 BWS twins and a triplet; seven twins are MZ, monochorionic and diamniotic, three twins are MZ, dichorionic and diamniotic and three twins are dizygotic. Twelve twins are female. In the majority of the twin pairs ( 11 of 13), the defect on chromosome 11p15 was hypomethylation of the paternal allele of DMR2. In 5 of 10 twins, there was additional hypomethylation of imprinted loci; in most cases, the loci affected were maternally methylated, but in two cases, hypomethylation of the paternally methylated DLK1 and H19 DMRs was detected, a novel finding in BWS. In buccal swabs of the MZ twins who share a placenta, the defect was present only in the affected twin; comparable hypomethylation in lymphocytes was detected in both the twins. The level of hypomethylation reached levels below 25%. The exchange of blood cells through vascular connections cannot fully explain the degree of hypomethylation found in the blood cell of the non-affected twin. We propose an additional mechanism through which sharing of aberrant methylation patterns in discordant twins, limited to blood cells, might occur. In a BWS-discordant MZ triplet, an intermediate level of demethylation was found in one of the non-affected sibs; this child showed mild signs of BWS. This finding supports the theory that a methylation error proceeds and possibly triggers the twinning process. European Journal of Human Genetics (2009) 17, 1625-1634; doi:10.1038/ejhg.2009.77; published online 10 June 2009
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- 2009
23. New distal marker closely linked to the fragile X locus
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Arie P. T. Smits, Ben A. Oostra, S. Broersen, B.A. van Oost, Theo J. M. Hulsebos, Andries Westerveld, and Other departments
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Genetic Markers ,Male ,Genetic Linkage ,Locus (genetics) ,Hybrid Cells ,Biology ,Cell Line ,Loss of heterozygosity ,Cricetinae ,Genetics ,medicine ,Animals ,Humans ,Genetics (clinical) ,X chromosome ,Chromosome Fragility ,medicine.disease ,Pedigree ,Fragile X syndrome ,Blotting, Southern ,Genetic marker ,Fragile X Syndrome ,Female ,Lod Score ,Restriction fragment length polymorphism ,DNA Probes ,Polymorphism, Restriction Fragment Length ,Recombination Fraction - Abstract
We have isolated II-10, a new X-chromosomal probe that identifies a highly informative two-allele TaqI restriction fragment length polymorphism at locus DXS466. Using somatic cell hybrids containing distinct portions of the long arm of the X chromosome, we could localize DXS466 between DXS296 and DXS304, both of which are closely linked distal markers for fragile X. This regional localization was supported by the analysis, in fragile X families, of recombination events between these three loci, the fragile X locus and locus DXS52, the latter being located at a more distal position. DXS466 is closely linked to the fragile X locus with a peak lod score of 7.79 at a recombination fraction of 0.02. Heterozygosity of DXS466 is approximately 50%. Its close proximity and relatively high informativity make DXS466 a valuable new diagnostic DNA marker for fragile X.
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- 1991
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24. Direct assignment of the human βB2 and βB3 crystallin genes to 22q11.2→q12: markers for neurofibromatosis 2
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A. Geurts van Kessel, Theo J. M. Hulsebos, Andries Westerveld, Ruud H. Brakenhoff, and E.K. Bijlsma
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Genetic Markers ,Genetics ,Chromosomes, Human, Pair 22 ,Restriction Mapping ,Chromosome Mapping ,Neuroma, Acoustic ,Hybrid Cells ,Biology ,Crystallins ,Molecular biology ,Blotting, Southern ,Restriction map ,Genes ,Gene mapping ,Genetic marker ,Crystallin ,Humans ,Restriction fragment length polymorphism ,DNA Probes ,Molecular Biology ,Gene ,Chromosome 22 ,Genetics (clinical) ,Southern blot - Abstract
We have isolated a human probe specific for the βB3 crystallin gene (CRYB3) and hybridized it to Southern blots of human × rodent cell hybrids with known human chromosomal constitution. In this way we could directly assign CRYB3 to chromosome 22. Cell hybrids with translocation chromosomes containing distinct portions of chromosome 22 were used to regionally localize the gene to 22q11.2→q12. Owing to its known close proximity to the βB3 crystallin gene, the βB2-1 crystallin gene (CRYB2-1) also maps in this region. A second βB2 crystallin gene, βB2–2 (CRYB2–2), not linked to the CRYB2-1/CRYB3 cluster, could be localized in the same region. This implies that the three known βB crystallin genes are all within 22q11.2→q12. This small region contains D22S1, the only marker that shows no recombination with neurofibromatosis 2. Therefore, the βB crystallin genes on chromosome 22 might be markers for this disease. Two DNA fragments revealing useful polymorphisms associated with the βB crystallin genes were identified. One detects a two-system MspI restriction fragment length polymorphism specific for the CRYB2-1/CRYB3 cluster. The other detects an informative PstI polymorphism that is in linkage equilibrium with the MspI polymorphism.
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- 1991
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25. Title Page / Table of Contents / Abstracts
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A. Kumamoto, Rosalyn Slater, A. Geurts van Kessel, J.W. Wessels, B.M. Cattanach, E.J. Dreef, R.E. Kibbelaar, G. Otulakowski, Charles E. Schwartz, S. Parikh, G.J. den Ottolander, J. George, I. Hansmann, U. Francke, G.M. Greig, H. Nakai, M.G. Byers, F. Yang, S. Boularand, Roger E. Stevenson, N.S.-F. Ma, J. Hayakawa, L.-C. Tsui, D.W. Threadgill, S. Kubota, D.H. Ledbetter, J. Spencer, I.A. Noordermeer, D.B. Farber, T.B. Nesterova, J.E. Womack, C.A. Kozak, L. Shi, C. Collet, M.C. Phelan, M. Vercruyssen, W.E. Fibbe, J. Mallet, H.F. Willard, E.P. Evans, C. Hanson, R.G. Taylor, N.B. Rubtsov, L.T. Williams, Andries Westerveld, R.G. Lafreniere, S. Navankasattusas, C. Szpirer, C.-L. Hsieh, C. Rasberry, E. Solomon, M.A. Abruzzo, M. Rivière, D.S. Gerhard, J.A. Escobedo, S.I. Radjabli, S.W. Scherer, D. Sheer, I.V. Nikitina, R.H. Brakenhoff, J.A. Miller, T.A. Jones, K.I. Kivirikko, T.J.M. Hulsebos, R.R. Mclnnes, T. Koizumi, M.C. Darmon, A. Goddard, P. Stanislovitis, S.P. Craig, N.J. Nowak, V.E. Powers, M.C. Simmler, S.M. Zakian, Y. Nakai, A.C.B. Peters, M. Kimura, J. Szpirer, M. Danciger, L. Dandolo, M. Westerman, M. van der Ploeg, L. Pajunen, E.P.J. Arnoldus, A.K. Raap, G.C. Beverstock, S. Schnittger, M. Katsuki, V.G. Matveeva, T. Shinohara, J. García-Heras, S.C. Bock, T.B. Shows, K. Klinger, A.P. Jackson, H. van Kamp, Franki Speleman, D.S. Gallagher, P.M. Kluin, A. Kuwano, T. Kajii, H.A. Taylor, B. Redeker, P. Van Oostveldt, T. Pihlajaniemi, JG Leroy, G.N. Hendy, Marcel M.A.M. Mannens, I.W. Craig, P. Avner, T. Abe, B.H. Robinson, V.L. Singer, P. Parham, E.K. Bijlsma, G. Levan, S. Kohno, S.J. Sadler, and V.V.N.G. Rao
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Genetics ,Library science ,Table of contents ,Biology ,Title page ,Molecular Biology ,Genetics (clinical) - Published
- 1991
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26. Contents, Vol. 56, 1991
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G. Levan, S.P. Craig, I.W. Craig, I.V. Nikitina, N.J. Nowak, T. Pihlajaniemi, C.A. Kozak, M.C. Simmler, H.A. Taylor, C. Collet, G.N. Hendy, C.-L. Hsieh, P. Van Oostveldt, R.G. Taylor, J.A. Miller, M.C. Darmon, A.C.B. Peters, J.W. Wessels, E. Solomon, M.A. Abruzzo, T. Abe, S.M. Zakian, M. Kimura, Y. Nakai, D. Sheer, B.M. Cattanach, Rosalyn Slater, Franki Speleman, P.M. Kluin, A. Kuwano, M. Westerman, S. Kohno, S.J. Sadler, N.S.-F. Ma, D.S. Gallagher, V.E. Powers, T.B. Shows, J. George, M. Van der Ploeg, K. Klinger, G.M. Greig, G. Otulakowski, M.C. Phelan, V.L. Singer, J. Szpirer, A.K. Raap, A. Geurts van Kessel, W.E. Fibbe, V.V.N.G. Rao, M. Vercruyssen, E.P. Evans, E.P.J. Arnoldus, E.J. Dreef, L.-C. Tsui, P. Parham, I. Hansmann, S. Parikh, L. Shi, L.T. Williams, R.E. Kibbelaar, J. Hayakawa, T. Kajii, M. Rivière, T. Shinohara, D.S. Gerhard, E.K. Bijlsma, M.G. Byers, A.P. Jackson, S.W. Scherer, S. Boularand, F. Yang, J. Mallet, J.A. Escobedo, Andries Westerveld, H.F. Willard, Roger E. Stevenson, R.R. Mclnnes, P. Stanislovitis, H. van Kamp, D.W. Threadgill, T. Koizumi, T.B. Nesterova, J.E. Womack, N.B. Rubtsov, T.A. Jones, T.J.M. Hulsebos, M. Danciger, S. Kubota, M. Katsuki, D.H. Ledbetter, S. Navankasattusas, C. Szpirer, V.G. Matveeva, S.I. Radjabli, L. Pajunen, R.H. Brakenhoff, J. García-Heras, G.C. Beverstock, S.C. Bock, Charles E. Schwartz, L. Dandolo, S. Schnittger, I.A. Noordermeer, C. Hanson, B.H. Robinson, A. Kumamoto, D.B. Farber, C. Rasberry, B. Redeker, K.I. Kivirikko, G.J. den Ottolander, H. Nakai, JG Leroy, Marcel M.A.M. Mannens, P. Avner, U. Francke, J. Spencer, R.G. Lafreniere, and A. Goddard
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Botany ,Genetics ,Zoology ,Biology ,Molecular Biology ,Genetics (clinical) - Published
- 1991
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27. Genomewide linkage in a large Dutch family with intracranial aneurysms: replication of 2 loci for intracranial aneurysms to chromosome 1p36.11-p36.13 and Xp22.2-p22.32
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Cisca Wijmenga, Frank Baas, Yvo B.W.E.M. Roos, Andries Westerveld, Marcel Wolfs, Ruben van 't Slot, Gabriel J.E. Rinkel, Ynte M. Ruigrok, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Amsterdam Neuroscience, Neurology, Genome Analysis, and Amsterdam Cardiovascular Sciences
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Adult ,Male ,medicine.medical_specialty ,Subarachnoid hemorrhage ,GENES ,GENETICS ,subarachnoid hemorrhage ,Genetic Linkage ,Population ,Polymorphism, Single Nucleotide ,CHROMOSOME 19Q13.3 ,DISEASE ,7Q11 ,Aneurysm ,Genetic linkage ,MAPS ,medicine ,Humans ,Genetic Predisposition to Disease ,education ,Stroke ,Netherlands ,Advanced and Specialized Nursing ,Linkage (software) ,Aged, 80 and over ,Family Health ,education.field_of_study ,Chromosomes, Human, X ,business.industry ,Vascular disease ,Infant, Newborn ,Chromosome ,Intracranial Aneurysm ,Genomics ,Middle Aged ,medicine.disease ,Surgery ,Pedigree ,CONFIRMATION ,Chromosomes, Human, Pair 1 ,aneurysm ,RISK-FACTORS ,Female ,Neurology (clinical) ,Cardiology and Cardiovascular Medicine ,business ,Microsatellite Repeats - Abstract
Background and Purpose— Approximately 2% of the general population harbor intracranial aneurysms. The prognosis after rupture of an intracranial aneurysm is poor; 50% of the patients die as a result of the rupture. Familial occurrence of intracranial aneurysms suggests there are genetic factors involved in the development of such aneurysms. Methods— A large, consanguineous pedigree with 7 of 20 siblings affected by intracranial aneurysms was compiled and a genomewide linkage analysis on this family was performed using Illumina’s single nucleotide polymorphism-based linkage panel IV, which includes 5861 single nucleotide polymorphisms. A nonparametric linkage affecteds-only approach with GENEHUNTER was used. Results— Two loci with suggestive linkage (nonparametric linkage=3.18) on chromosome regions 1p36 and Xp22 were identified. Additional microsatellite markers were genotyped in the 2 candidate loci and showed suggestive linkage to the locus on chromosome 1 with a nonparametric linkage of 3.18 at 1p36.11-p36.13 and significant linkage to the locus on chromosome X with a nonparametric linkage of 4.54 at Xp22.2-p22.32. Conclusions— The 2 potential loci for intracranial aneurysms, which we identified in this large Dutch family, overlap with loci that have already been identified in previous linkage studies from different populations. Identification of genes from these loci will be important for a better understanding of the disease pathogenesis.
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- 2008
28. Molecular Cloning and Biological Characterization of the Human Excision Repair Gene ERCC-3
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H. Odijk, A. J. Van Der Eb, G. Weeda, D. Bootsma, J. H. J. Hoeijmakers, Andries Westerveld, R. Masurel, J. de Wit, and R. C. A. Van Ham
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DNA Replication ,Alkylating Agents ,DNA Repair ,DNA repair ,Ultraviolet Rays ,Mitomycin ,Mutant ,Restriction Mapping ,Biology ,Molecular cloning ,medicine.disease_cause ,Transfection ,Cell Line ,Mitomycins ,Complementary DNA ,medicine ,Animals ,Humans ,Cloning, Molecular ,Gene ,Molecular Biology ,Genetics ,Mutation ,Genomic Library ,Nucleic Acid Hybridization ,DNA ,Cell Biology ,Methyl Methanesulfonate ,Molecular biology ,Blotting, Southern ,Kinetics ,Genes ,In vitro recombination ,Nucleotide excision repair ,Research Article - Abstract
In this report we present the cloning, partial characterization, and preliminary studies of the biological activity of a human gene, designated ERCC-3, involved in early steps of the nucleotide excision repair pathway. The gene was cloned after genomic DNA transfection of human (HeLa) chromosomal DNA together with dominant marker pSV3gptH to the UV-sensitive, incision-defective Chinese hamster ovary (CHO) mutant 27-1. This mutant belongs to complementation group 3 of repair-deficient rodent mutants. After selection of UV-resistant primary and secondary 27-1 transformants, human sequences associated with the induced UV resistance were rescued in cosmids from the DNA of a secondary transformant by using a linked dominant marker copy and human repetitive DNA as probes. From coinheritance analysis of the ERCC-3 region in independent transformants, we deduce that the gene has a size of 35 to 45 kilobases, of which one essential segment has so far been refractory to cloning. Conserved unique human sequences hybridizing to a 3.0-kilobase mRNA were used to isolate apparently full-length cDNA clones. Upon transfection to 27-1 cells, the ERCC-3 cDNA, inserted in a mammalian expression vector, induced specific and (virtually) complete correction of the UV sensitivity and unscheduled DNA synthesis of mutants of complementation group 3 with very high efficiency. Mutant 27-1 is, unlike other mutants of complementation group 3, also very sensitive toward small alkylating agents. This unique property of the mutant is not corrected by introduction of the ERCC-3 cDNA, indicating that it may be caused by an independent second mutation in another repair function. By hybridization to DNA of a human x rodent hybrid cell panel, the ERCC-3 gene was assigned to chromosome 2, in agreement with data based on cell fusion (L. H. Thompson, A. V. Carrano, K. Sato, E. P. Salazar, B. F. White, S. A. Stewart, J. L. Minkler, and M. J. Siciliano, Somat. Cell. Mol. Genet. 13:539-551, 1987).
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- 1990
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29. No mutations found byRET mutation scanning in sporadic and hereditary neuroblastoma
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Rein P. Stulp, Robert M.W. Hofstra, N C Cheng, Niels Tommerup, Claus Hansen, Niels Clausen, Rogier Versteeg, Andries Westerveld, T. Stelwagen, Charles H.C.M. Buys, and Huib N. Caron
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Biology ,Gene mutation ,medicine.disease_cause ,Proto-Oncogene Mas ,Neuroblastoma ,Exon ,Neoplasms ,Proto-Oncogene Proteins ,Genetics ,medicine ,Drosophila Proteins ,Humans ,Northern blot ,neoplasms ,Polymorphism, Single-Stranded Conformational ,Genetics (clinical) ,Mutation ,Proto-Oncogene Proteins c-ret ,Receptor Protein-Tyrosine Kinases ,Neural crest ,Single-strand conformation polymorphism ,medicine.disease ,Cancer research ,Carcinogenesis - Abstract
Neuroblastoma occasionally occurs in diseases associated with abnormal neurocrest differentiation, e.g. Hirschsprung disease. Expression studies in developing mice suggest that the proto-oncogene RET plays a role in neurocrest differentiation. In humans expression of RET is limited to certain tumor types, including neuroblastoma, that derive from migrating neural crest cells. Mutations of RET are found associated with Hirschsprung disease. These data prompted us to investigate expression of RET and to search for gene mutations in neuroblastoma. Out of 16 neuroblastoma cell lines analyzed, 9 show clear expression of RET in a Northern blot analysis. In a single strandt conformation polymorphism (SSCP) analysis of all exons, no mutations were detected other than neutral polymorphisms. In a patient with neuroblastoma, from a family in which different neurocrestopathies, including neuroblastoma and Hirschsprung disease, had occurred, we also failed to detect RET mutations. Possibly, expression of RET in neuroblastoma merely reflects the differentiation status of the tumor cells. The absence of mutations suggests that RET does not play a crucial role in the tumorigenesis of neuroblastoma.
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- 1996
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30. Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3
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Salvatore Melchionda, Fré Arwert, Samia A. Temtamy, Juan J. Ortega, Douglas F. Easton, Irene Roberts, Jan C. Pronk, Stander Jansen, Christopher G. Mathew, Thomy J. L. de Ravel, Neil V. Morgan, Mario Wijker, Rachel A. Gibson, Anna Savoia, Charmaine Havenga, Hans Joenje, Andries Westerveld, Richard J. Cohn, and D Ford
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Genetics ,Positional cloning ,Genetic Linkage ,Genetic heterogeneity ,Genetic Complementation Test ,Chromosomes, Human, Pair 20 ,Chromosome Mapping ,Chromosome Fragility ,Biology ,medicine.disease ,Molecular biology ,Pedigree ,Complementation ,Consanguinity ,Fanconi Anemia ,Gene mapping ,Fanconi anemia ,Genetic linkage ,medicine ,Humans ,Chromosome breakage ,Chromosomes, Human, Pair 16 - Abstract
Fanconi anaemia (FA) is an autosomal recessive disorder associated with diverse developmental abnormalities, bone-marrow failure and predisposition to cancer. FA cells show increased chromosome breakage and hypersensitivity to DNA cross-linking agents such as diepoxybutane and mitomycin C. Somatic-cell hybridisation analysis of FA cell lines has demonstrated the existence of at least five complementation groups (FA-A to FA-E), the most common of which is FA-A. This genetic heterogeneity has been a major obstacle to the positional cloning of FA genes by classical linkage analysis. The FAC gene was cloned by functional complementation, and localised to chromosome 9q22.3 (ref. 2), but this approach has thus far failed to yield the genes for the other complementation groups. We have established a panel of families classified as FA-A by complementation analysis, and used them to search for the FAA gene by linkage analysis. We excluded the previous assignment by linkage of an FA gene to chromosome 20q, and obtained conclusive evidence for linkage of FAA to microsatellite markers on chromosome 16q24.3. Strong evidence of allelic association with the disease was detected with the marker D16S303 in the Afrikaner population of South Africa, indicating the presence of a founder effect.
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- 1995
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31. Amplification of 17p11.2 approximately p12, including PMP22, TOP3A, and MAPK7, in high-grade osteosarcoma
- Author
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Maaike, van Dartel, Peter W A, Cornelissen, Sandra, Redeker, Maija, Tarkkanen, Sakari, Knuutila, Pancras C W, Hogendoorn, Andries, Westerveld, Ingrid, Gomes, Johannes, Bras, and Theo J M, Hulsebos
- Subjects
Genetic Markers ,Osteosarcoma ,Gene Amplification ,Chromosome Mapping ,Membrane Proteins ,Bone Neoplasms ,DNA, Neoplasm ,Oncogenes ,Polymerase Chain Reaction ,DNA Topoisomerases, Type I ,Humans ,Mitogen-Activated Protein Kinases ,Mitogen-Activated Protein Kinase 7 ,Chromosomes, Human, Pair 17 ,Microsatellite Repeats - Abstract
Amplification of region 17p11.2 approximately p12 has been found in 13%-29% of high-grade osteosarcomas, suggesting the presence of an oncogene or oncogenes that may contribute to their development. To determine the location of these putative oncogenes, we established 17p11.2 approximately p12 amplification profiles by semiquantitative PCR, using 15 microsatellite markers and seven candidate genes in 19 high-grade osteosarcomas. Most of the tumors displayed complex amplification profiles, with frequent involvement of marker D17S2041 in 17p12 and TOP3A in 17p11.2 and, in some cases, very high-level amplification of PMP22 and MAPK7 in 17p11.2. Our findings suggest that multiple amplification targets, including PMP22, TOP3A, and MAPK7 or genes close to these candidate oncogenes, may be present in 17p11.2 approximately p12 and thus contribute to osteosarcoma tumorigenesis.
- Published
- 2003
32. Microsatellite instability and promoter methylation as possible causes of NF1 gene inactivation in neurofibromas
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Theo J. M. Hulsebos, van Noesel Mm, Andries Westerveld, M. Luijten, S. Redeker, Dirk Troost, and Other departments
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,Sp1 Transcription Factor ,Molecular Sequence Data ,Loss of Heterozygosity ,Nerve Tissue Proteins ,CREB ,medicine.disease_cause ,Cyclic AMP Response Element Modulator ,Genetics ,medicine ,Humans ,Gene Silencing ,Allele ,Neurofibromatosis ,Promoter Regions, Genetic ,Transcription factor ,Gene ,neoplasms ,Genetics (clinical) ,Mutation ,Neurofibroma ,Neurofibromin 1 ,biology ,Base Sequence ,Microsatellite instability ,Methylation ,DNA ,DNA Methylation ,medicine.disease ,eye diseases ,nervous system diseases ,DNA-Binding Proteins ,Repressor Proteins ,biology.protein ,Cancer research ,Microsatellite Repeats - Abstract
Neurofibromatosis type 1 (NF1) is a frequent hereditary disorder. One of the characteristic features of this disease is the development of neurofibromas. Since the NF1 gene is supposed to be a tumour suppressor gene, these neurofibromas should develop upon inactivation of both NF1 alleles. So far, mutation and deletion have been found to be involved in NF1 gene inactivation. However, these inactivating mechanisms explain the development of only a limited fraction of analysed neurofibromas. In this study, we investigated microsatellite instability (MSI) and promoter methylation as potential contributors to NF1 gene inactivation. As site-specific methylation in the NF1 promoter inhibits binding of transcription factors Sp1 and CREB, we studied the methylation status of their binding sites in particular. We analysed 20 neurofibromas and three neurofibrosarcomas, but did not find evidence for microsatellite instability or NF1 promoter methylation in any of the tumours. Thus, our data suggest that both microsatellite instability and promoter methylation are unlikely to be the major causes of NF1 gene inactivation in these tumours.
- Published
- 2001
33. Delineation and physical separation of novel translocation breakpoints on chromosome 1p in two genetically closely associated childhood tumors
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D.L. Kruitbosch, P.A. Voûte, Marcel M.A.M. Mannens, N. Zijlstra, Lidia Larizza, Andries Westerveld, Marja Steenman, C. Wiesmeijer, and Other departments
- Subjects
Hepatoblastoma ,Beckwith-Wiedemann Syndrome ,Genetic Linkage ,Receptors, Drug ,Molecular Sequence Data ,Beckwith–Wiedemann syndrome ,Muscle Proteins ,Chromosomal translocation ,Nerve Tissue Proteins ,Biology ,Wilms Tumor ,Translocation, Genetic ,Chromosome Walking ,Contig Mapping ,Chromosome regions ,Rhabdomyosarcoma ,Genetics ,medicine ,Tumor Cells, Cultured ,Humans ,Cloning, Molecular ,Child ,Receptors, Cannabinoid ,Molecular Biology ,Chromosomes, Artificial, Yeast ,Genetics (clinical) ,In Situ Hybridization, Fluorescence ,Homeodomain Proteins ,Breakpoint ,Chromosome ,PAX7 Transcription Factor ,Wilms' tumor ,Chromosome Breakage ,Exons ,medicine.disease ,Electrophoresis, Gel, Pulsed-Field ,Chromosomes, Human, Pair 1 ,Chromosome breakage - Abstract
Sporadic childhood tumors associated with Beckwith-Wiedemann syndrome (BWS) all show abnormalities of the same region on chromosome 11. In addition to chromosome 11, other chromosome regions are affected in some of these tumor types. In this study we analyzed the region on chromosome 1p involved in the etiology of BWS-associated tumors, Wilms tumor, rhabdomyosarcoma, and hepatoblastoma. For this purpose we determined the location of two novel translocation breakpoints in this chromosome region in cells from a Wilms tumor and cells from a rhabdomyosarcoma. We constructed a map of the region and found that both breakpoints are separated by at least 875 kb. We identified a PAC clone which crosses the rhabdomyosarcoma breakpoint and found several exons within this clone. We established that this breakpoint is located proximal to the PAX7 gene and, therefore, identified a new region involved in the etiology of rhabdomyosarcomas.
- Published
- 2000
34. Disruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith-Wiedeman syndrome
- Author
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Marielle Alders, Marcel M.A.M. Mannens, Jet Bliek, Andries Westerveld, Andrew P. Feinberg, Peter Little, O. Privitera, A. Ryan, Matthew D. Hodges, Faculteit der Geneeskunde, and Other departments
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Male ,Beckwith-Wiedemann Syndrome ,Sequence analysis ,DNA Mutational Analysis ,Molecular Sequence Data ,Beckwith–Wiedemann syndrome ,Biology ,Cell Line ,03 medical and health sciences ,Contig Mapping ,Genomic Imprinting ,Fetus ,medicine ,Genetics ,Humans ,RNA, Antisense ,Genetics(clinical) ,Amino Acid Sequence ,RNA, Messenger ,Cloning, Molecular ,Gene ,Genetics (clinical) ,Alleles ,Polymorphism, Single-Stranded Conformational ,030304 developmental biology ,Zinc finger ,0303 health sciences ,Chromosomes, Human, Pair 11 ,030305 genetics & heredity ,Alternative splicing ,Chromosome ,Wilms tumor ,Chromosome Breakage ,Zinc Fingers ,medicine.disease ,DNA-Binding Proteins ,Alternative Splicing ,Zinc-finger gene ,Amino Acid Substitution ,Organ Specificity ,Female ,Chromosome breakage ,Genomic imprinting ,Hemihypertrophy ,Chromosome 11p15 ,Research Article - Abstract
The genetics of Beckwith-Wiedemann syndrome (BWS) is complex and is thought to involve multiple genes. It is known that three regions on chromosome 11p15 (BWSCR1, BWSCR2, and BWSCR3) may play a role in the development of BWS. BWSCR2 is defined by two BWS breakpoints. Here we describe the cloning and sequence analysis of 73 kb containing BWSCR2. Within this region, we detected a novel zinc-finger gene, ZNF215. We show that two of its five alternatively spliced transcripts are disrupted by both BWSCR2 breakpoints. Parts of the 3′ end of these splice forms are transcribed from the antisense strand of a second zinc-finger gene, ZNF214. We show that ZNF215 is imprinted in a tissue-specific manner.
- Published
- 2000
35. Assessment of chromosomal gains and losses in oral squamous cell carcinoma by comparative genomic hybridisation
- Author
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Andries Westerveld, Mario A. J. A. Hermsen, Rosalyn Slater, Boudewijn J.M. Braakhuis, Hans Joenje, Jan P. A. Baak, and Fré Arwert
- Subjects
Cancer Research ,medicine.medical_specialty ,Biology ,Genome ,medicine ,Tumor Cells, Cultured ,Humans ,Basal cell ,Gene ,In Situ Hybridization, Fluorescence ,Genetics ,Cytogenetics ,Chromosome ,Nucleic Acid Hybridization ,Karyotype ,DNA, Neoplasm ,Molecular biology ,stomatognathic diseases ,Oncology ,Epidermoid carcinoma ,Carcinoma, Squamous Cell ,%22">Fish ,Female ,Mouth Neoplasms ,Chromosomes, Human, Pair 3 ,Oral Surgery ,Chromosome Deletion ,Chromosomes, Human, Pair 9 - Abstract
Cytogenetic studies have demonstrated that oral squamous cell carcinomas (OSCCs) are usually characterised by complex karyotypes with many marker chromosomes. We analysed the genetic changes of six OSCC cell cultures by comparative genomic hybridisation (CGH). The CGH technique provides information on chromosomal gains and losses of the whole tumour genome in a single experiment and can therefore identify regions that harbour putative tumour suppressor genes (in the case of loss of chromosomal material) or oncogenes (in the case of gain or amplification of chromosomal material). Recurrent losses were detected at chromosome arms Xp and 3p (four cases). Gains consistently occurred at chromosome arms 8q and 9q (four cases) and at 1q, 3q, 5p, 7p, and 9p (three cases). The same six tumour cultures have previously been analysed by classical karyotyping. An important discrepancy between the two techniques was the number of losses detected: 55 with karyotyping versus 26 with CGH. On the basis of the cytogenetic complexity of these tumours and on FISH experiments that confirmed the CGH results, we conclude that genetic changes, particularly losses, can be more reliably detected by CGH analysis.
- Published
- 1998
36. The role of type III collagen in spontaneous cervical arterial dissections
- Author
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Fré Arwert, L.J. Kappelle, Andries Westerveld, Gerard Pals, Martien Limburg, and J.S.P. van den Berg
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Adult ,Carotid Artery Diseases ,Male ,Pathology ,medicine.medical_specialty ,Biopsy ,Vertebral artery ,Pathofysiologie van Hersenen en Gedrag ,Biology ,Pathophysiology of Brain and Behaviour ,medicine.disease_cause ,Pathogenesis ,Polymorphism (computer science) ,medicine.artery ,medicine ,Humans ,Fibroblast ,Polymorphism, Single-Stranded Conformational ,Vertebral Artery ,Skin ,Mutation ,Arterial dissection ,Vascular disease ,Nucleic Acid Heteroduplexes ,DNA ,Middle Aged ,medicine.disease ,Radiography ,Aortic Dissection ,medicine.anatomical_structure ,Neurology ,Case-Control Studies ,Female ,Collagen ,Neurology (clinical) ,Carotid Artery, Internal ,Type I collagen - Abstract
A case-control study was carried out to investigate whether type III collagen deficiency plays a role in the pathogenesis of spontaneous cervical arterial dissections. In 16 patients with spontaneous cervical arterial dissections and in 41 healthy controls, protein analysis of type III collagen (ratio of type III/type I collagen) was performed. Furthermore, single-stranded conformation polymorphism/heteroduplex analysis was used to investigate the type III collagen gene in the 16 patients with spontaneous cervical dissections to detect mutations. The ratios of type III/type I collagen in the controls ranged from 5.5 to 19.8% (median, 10%). The ratios of type III/type I collagen in the patients with spontaneous cervical arterial dissections ranged from 3.2 to 17.9% (median, 9.3%). Two patients had a low ratio of type III/type I collagen (
- Published
- 1998
37. The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts
- Author
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Matthew D. Hodges, Cees B.M. Oudejans, Jan Postmus, Inge J. van Wijk, Marielle Alders, Anna-Katerina Hadjantonakis, Maurice de Meulemeester, François Guillemot, Marcel M.A.M. Mannens, Jet Bliek, Andries Westerveld, Peter Little, Pediatric surgery, ACS - Atherosclerosis & ischemic syndromes, Clinical chemistry, Amsterdam Reproduction & Development (AR&D), Human genetics, Clinical genetics, Amsterdam Reproduction & Development, General practice, Faculteit der Geneeskunde, and Other departments
- Subjects
animal structures ,DNA, Complementary ,Molecular Sequence Data ,Gene Expression ,Biology ,Homology (biology) ,03 medical and health sciences ,Mice ,0302 clinical medicine ,Gene mapping ,Insulin-Like Growth Factor II ,Sequence Homology, Nucleic Acid ,Genetics ,Basic Helix-Loop-Helix Transcription Factors ,Animals ,Humans ,Amino Acid Sequence ,Cloning, Molecular ,Molecular Biology ,Gene ,Genetics (clinical) ,030304 developmental biology ,Synteny ,Chromosome 7 (human) ,0303 health sciences ,Base Sequence ,Sequence Homology, Amino Acid ,Achaete-scute complex ,Chromosomes, Human, Pair 11 ,Chromosome Mapping ,General Medicine ,female genital diseases and pregnancy complications ,Rats ,Trophoblasts ,DNA-Binding Proteins ,030220 oncology & carcinogenesis ,embryonic structures ,Scute ,Genomic imprinting ,Transcription Factors - Abstract
Here we describe the cloning of the human Achaete Scute Homologue 2 (HASH2) gene, officially designated ASCL2 (Achaete Scute complex like 2), a homologue of the Drosophila Achaete and Scute genes. In mouse, this gene is imprinted and maps to chromosome 7. We mapped the human homologue close to IGF2 and H19 at 11p15.5, the human region syntenic with mouse chromosome 7, indicating that this imprinted region is highly conserved in mouse and man. HASH2 is expressed in the extravillus trophoblasts of the developing placenta only. The lack of HASH2 expression in non-malignant hydatidiform (androgenetic) moles indicates that HASH2 is also imprinted in man.
- Published
- 1997
- Full Text
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38. Allelic loss of the short arm of chromosome 4 in neuroblastoma suggests a novel tumour suppressor gene locus
- Author
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J. de Kraker, Gilles Vergnaud, P. Maes, P.A. Voûte, R. Buschman, Rogier Versteeg, R. Pereira do Tanque, H.N. Caron, L. Beks, P. van Sluis, Andries Westerveld, Rosalyn Slater, Institut de génétique et microbiologie [Orsay] (IGM), Université Paris-Sud - Paris 11 (UP11)-Centre National de la Recherche Scientifique (CNRS), École Nationale Supérieure de Techniques Avancées (ENSTA Paris), Other departments, and Vergnaud, Gilles
- Subjects
Male ,Heterozygote ,[SDV]Life Sciences [q-bio] ,Locus (genetics) ,[SDV.GEN] Life Sciences [q-bio]/Genetics ,Biology ,Loss of heterozygosity ,Neuroblastoma ,Genetics ,medicine ,Humans ,Genes, Tumor Suppressor ,Allele ,ComputingMilieux_MISCELLANEOUS ,Genetics (clinical) ,Alleles ,Southern blot ,Chromosome Aberrations ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology ,Infant ,medicine.disease ,[SDV] Life Sciences [q-bio] ,Chromosome 4 ,Genetic marker ,Chromosomes, Human, Pair 1 ,Cancer research ,Female ,Chromosome Deletion ,Chromosomes, Human, Pair 4 ,Genomic imprinting ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology - Abstract
Neuroblastoma is a childhood neural crest tumour, genetically characterized by frequent deletions of the short arm of chromosome 1 and amplification of N-myc. Here we report the first evidence for a neuroblastoma tumour suppressor locus on 4pter. Cytogenetically we demonstrated rearrangements of 4p in 7 out of 26 evaluable tumours (27%). Subsequent analysis of loss of heterozygosity (LOH) by Southern blotting revealed allelic loss of 4p in 16/82 (19.5%) informative neuroblastomas. Taken together cytogenetic and Southern blot analyses showed loss of 4p in 20/86 neuroblastomas analysed (23%). The common deleted region was bordered by the probe D4S 123 and encompassed the distal 34 cM of 4p. We found no evidence for genomic imprinting of the 4p locus as the 4p alleles lost in the tumours were of random maternal and paternal origin. LOH4p was found at all disease stages and in every age group. Furthermore LOH4p was present both in cases with and without LOHIp and amplification of N-myc.
- Published
- 1996
39. Centromeric breakage as a major cause of cytogenetic abnormalities in oral squamous cell carcinoma
- Author
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Mario Hermsen, Marij J. P. Welters, Hans Joenje, Boudewijn J.M. Braakhuis, Rosalyn Slater, Fré Arwert, Andries Westerveld, and Marjan Bagnay
- Subjects
Cancer Research ,Isochromosome ,Centromere ,Mice, Nude ,Chromosomal translocation ,Chromosome Disorders ,Biology ,Mice ,Genetic imbalance ,Genetics ,medicine ,Animals ,Humans ,education ,Homogeneously Staining Region ,In Situ Hybridization, Fluorescence ,Chromosome Aberrations ,education.field_of_study ,medicine.diagnostic_test ,Breakpoint ,Cancer ,Chromosome ,medicine.disease ,Molecular biology ,Chromosome Banding ,Karyotyping ,Carcinoma, Squamous Cell ,Mouth Neoplasms ,Chromosome Deletion ,Fluorescence in situ hybridization - Abstract
Cytogenetic analysis of short-term explant tumor cultures derived from 11 human oral squamous cell carcinomas (nine from primary tumors and two from nude mice xenograft cultures) revealed clonal chromosomal aberrations with multiple numerical and structural changes in all tumors. Recurrent breakpoints were located at chromosomal bands 1p13 (five tumors), 11q13 (four tumors), 3q27-29 (three tumors), and 12q13 (three tumors). Four tumors had a homogeneously staining region at band 11q13. Consistent chromosomal losses included 3p, 9p13-pter, and 18q22-qter, each occurring in eight tumors. Gain of material was observed for chromosome arms 3q, 5p, 7p, and 8q. As many as 134 of a total of 218 chromosomal breakpoints (61%) occurred in centromeric regions, often resulting in isochromosomes and unbalanced whole-arm translocations. Using fluorescence in situ hybridization with chromosome-specific centromeric alphoid repeat probes, two whole-arm translocations, der(Xq;11q) and a der(3q;11q), each from a different tumor, were shown to contain juxtaposed centromeric sequences of both participating chromosomes, strongly suggesting that the breakpoints were within the centromeres. We propose that centromeric breakage is an important mechanism for the generation of genetic imbalance in the development of oral squamous cell carcinoma. Genes Chrom Cancer 14:000-000 (1995). © 1996 Wiley-Liss, Inc.
- Published
- 1996
40. Allelic loss of chromosome 1p as a predictor of unfavorable outcome in patients with neuroblastoma
- Author
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Andries Westerveld, P.A. Voûte, Genevieve Laureys, J. de Kraker, P. van Sluis, Rosalyn Slater, M Egeler, Jos P.M. Bökkerink, H.N. Caron, Rogier Versteeg, and Other departments
- Subjects
Pathology ,medicine.medical_specialty ,Genes, myc ,Chromosome Disorders ,Biology ,Disease-Free Survival ,Loss of heterozygosity ,Neuroblastoma ,Gene duplication ,medicine ,Humans ,Allele ,GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries) ,Behandelingsresultaten van kanker bij kinderen ,Neoplasm Staging ,Proportional Hazards Models ,Southern blot ,Chromosome Aberrations ,Gene Amplification ,Infant ,Chromosome ,DNA, Neoplasm ,General Medicine ,Familial Neuroblastoma ,Prognosis ,medicine.disease ,Blotting, Southern ,Chromosomes, Human, Pair 1 ,Child, Preschool ,Multivariate Analysis ,Cancer research ,Cancer treatment results in children ,Chromosome Deletion ,Childhood Neuroblastoma - Abstract
Neuroblastoma is a childhood tumor derived from cells of the neural crest, with a widely variable outcome. Differences in the behavior and prognosis of the tumor suggest that neuroblastoma can be divided into several biologic subgroups. We evaluated the most frequent genetic abnormalities in neuroblastoma to determine their prognostic value. We used Southern blot analysis to study the allelic loss of chromosomes 1p, 4p, 11q, and 14q, the duplication of chromosome 17q, and the amplification of the N-myc oncogene in 89 neuroblastomas. We also determined the nuclear DNA content of the tumor cells. Allelic loss of chromosome 1p, N-myc amplification, and extra copies of chromosome 17q were significantly associated with unfavorable outcome. In a multivariate analysis, loss of chromosome 1p was the most powerful prognostic factor. It provided strong prognostic information when it was included in multivariate models containing the prognostic factors of age and stage or serum ferritin level and stage. Among the patients with stage I, II, or IVS disease, the mean (+/- SD) three-year event-free survival was 100 percent in those without allelic loss of chromosome 1p and 34 +/- 15 percent in those with such loss; the rates of three-year event-free survival among the patients with stage III and stage IV disease were 53 +/- 10 percent and 0 percent, respectively. The loss of chromosome 1p is a strong prognostic factor in patients with neuroblastoma, independently of age and stage. It reliably identifies patients at high risk in stages I, II, and IVS, which are otherwise clinically favorable. More intensive therapy may be considered in these patients. Patients in stages III and IV with allelic loss of chromosome 1p have a very poor outlook, whereas those without such loss are at moderate risk
- Published
- 1996
41. Analysis of mutations in the SCH gene in schwannomas
- Author
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Bosch Da, E. K. Bijlsma, Gilles Thomas, Andries Westerveld, Olivier Delattre, P. Merel, Theo J. M. Hulsebos, and Other departments
- Subjects
Cancer Research ,Neurofibromatosis 2 ,Chromosomes, Human, Pair 22 ,RNA Splicing ,DNA Mutational Analysis ,Molecular Sequence Data ,Biology ,Polymerase Chain Reaction ,Gene product ,Central Nervous System Neoplasms ,Exon ,Peripheral Nervous System Neoplasms ,Genes, Neurofibromatosis 2 ,Genetics ,medicine ,otorhinolaryngologic diseases ,Coding region ,Humans ,Point Mutation ,Cranial Nerve Neoplasms ,Allele ,Neurofibromatosis type 2 ,Codon ,Gene ,Alleles ,Sequence Deletion ,Neurofibromin 2 ,Base Sequence ,Membrane Proteins ,DNA, Neoplasm ,Exons ,Neuroma, Acoustic ,medicine.disease ,Molecular biology ,Neoplasm Proteins ,RNA splicing ,Chromosome 22 ,Sequence Alignment ,Neurilemmoma - Abstract
Schwannomas are benign tumors of cranial, spinal, and other nerve sheaths that develop sporadically or are inherited as part of neurofibromatosis type 2 (NF2). The NF2 gene (SCH) on chromosome 22 has recently been identified and shown to be inactivated by mutation and allele loss in some schwannomas. However, only limited regions in the SCH coding region were examined for mutations. We have extended these studies by screening virtually all coding sequences of the SCH gene (95% coverage) and adjacent splice site sequences for the presence of mutations in 48 schwannomas. All tumors (34 vestibular schwannomas and 14 schwannomas of other locations) were additionally characterized for allele loss on chromosome 22. By PCR-DGGE screening of the 16 known exons of the SCH gene, 22 mutations were found. Most of these give rise to a premature stop codon and are expected to result in the synthesis of a truncated gene product (schwannomin). Although there was no apparent hotspot for mutations, 16 of the 22 mutations occurred in the first eight exons or adjacent splice site sequences of the SCH gene. In several vestibular as well as other schwannomas loss of one SCH allele and mutational inactivation of the second allele were identified in the same tumor. Our data indicate that the SCH gene is implicated in the development of schwannomas of all locations in the nervous system.
- Published
- 1994
42. Amplification of the anonymous marker D17S67 in malignant astrocytomas
- Author
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Bosch Da, Theo J. M. Hulsebos, Sieger Leenstra, Andries Westerveld, E. K. Bijlsma, Other departments, Molecular Genetics, Neurosurgery, and Hematology
- Subjects
Genetic Markers ,Male ,Cancer Research ,Brain Edema ,Astrocytoma ,Loss of heterozygosity ,Postoperative Complications ,SDG 3 - Good Health and Well-being ,Genetics ,medicine ,Humans ,Epidermal growth factor receptor ,Gene ,Aged ,Sequence Deletion ,biology ,Brain edema ,Brain Neoplasms ,Gene Amplification ,Chromosome ,Cancer ,Middle Aged ,medicine.disease ,Molecular biology ,Chromosome 17 (human) ,ErbB Receptors ,Chromosome Arm ,Cancer research ,biology.protein ,Glioblastoma ,Chromosomes, Human, Pair 17 - Abstract
Loss of heterozygosity (LOH) for chromosome arms 9p, 10p, 10q, and 17p and amplification of the epidermal growth factor receptor (EGFR) gene have been identified as frequent genetic changes in malignant astrocytomas. We have found amplification of the anonymous marker D17S67 on chromosome arm 17p in 10% (3 of 30 cases) of astrocytomas of the highest malignancy grade. The tumors with D17S67 amplification displayed other genetic changes on chromosome 17, including additional amplifications and deletions. All three patients with D17S67 amplification developed severe brain edema and died within I month after operation. Genes Chrom Cancer 9:148‐152 (1994). © 1994 Wiley‐Liss, Inc.
- Published
- 1994
43. High-resolution chromosomal localization of the human calcitonin/CGRP/IAPP gene family members
- Author
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Jet Bliek, J.W.M. Höppener, Andries Westerveld, Marcel M.A.M. Mannens, N. Van Roy, S. Bhola, Franki Speleman, Nico J. Leschot, Egbert J.W. Redeker, Jan M.N. Hoovers, and Other departments
- Subjects
Calcitonin ,endocrine system ,Amyloid ,Pseudogene ,Calcitonin Gene-Related Peptide ,Calcitonin gene-related peptide ,Biology ,Gene mapping ,Genetics ,medicine ,Tumor Cells, Cultured ,Gene family ,Humans ,Gene ,In Situ Hybridization, Fluorescence ,Chromosomes, Human, Pair 12 ,medicine.diagnostic_test ,Chromosomes, Human, Pair 11 ,Chromosome ,Chromosome Mapping ,Molecular biology ,Electrophoresis, Gel, Pulsed-Field ,Islet Amyloid Polypeptide ,Multigene Family ,Fluorescence in situ hybridization - Abstract
We report the high-resolution localization of the human calcitonin/CGRP genes, CALCA, CALCB, and the pseudogene CALCP, to a 220-kb SacII fragment on chromosome 11p15.2-p15.1, using prometaphase fluorescence in situ hybridization (FISH), two-color interphase FISH, and pulsed-field gel electrophoresis analysis. The related islet amyloid polypeptide (IAPP) gene was assigned to human chromosome 12p12.3-p12.1. The results support an evolutionary relationship between the calcitonin/CGRP genes and the IAPP gene and between parts of human chromosomes 11 and 12.
- Published
- 1993
44. Susumu Ohno left us January 13, 2000, at the age of 71
- Author
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P.A. Voûte, S. Sugano, J.C.T. van Deutekom, L. Leikepová, Y. Hey, N. Zijlstra, M. Escarceller, A. Ziegler, D. Demetrick, H.-J. Han, R. Berger, D. Frynta, M. Loda, S. Ferraboli, Cécile Jeanpierre, H. Winton, H.C. Duba, A.L. Hawkins, N. Andreu, P.J. de Jong, N.C. Popescu, M.N. Meyer, T.K. Kwon, M.J. Ruiz-Hidalgo, M. Erdel, R. Godbout, N.V. Vorobieva, A. Renieri, S. Nagata, L. Zhu, T. Ueda, G. Zhao, F. Vitelli, N.A. Serdyukova, X. Estivill, S. Bonné, E.R. Werner, Lidia Larizza, I. Kärkkäinen, J. Bullerdiek, K. Vehse, P. Das, U. Zechner, J. Greenwood, B.H.F. Weber, A. Duval, M. Ogawa, P.I. Patel, M. Busson-Leconiat, I. Nanda, C. Von Kap-Her, P. Staeheli, Y. Xie, D.B. Zimonjic, S. Murthy, C. Cenciarelli, H. Hameister, K. White, S. Beck, N. Kanda, L. Sumoy, S. Fineschi, L. Hornum, K. Gopalbhai, K.-R. Kim, C. Le Chalony, A.J. Mungall, E. Aikawa, D. Baudry, G.W. Padberg, G. Frelat, C. Wahlestedt, A.S. Graphodatsky, M.C. Dickson, P. van Tuinen, J.M. Varley, J.E. Hewitt, H. Stöhr, O.V. Sablina, Marcel M.A.M. Mannens, K. Imai, H. Akashi, C. Wiesmeijer, M.N. Ahmed, Ian Dunham, P.L. Perelman, M. Pettenati, S.W. Scherer, W. Parks, E. Sonnhammer, Andries Westerveld, M.B. Qumsiyeh, G. Werner-Felmayer, Z.E. Zehner, J. Pellerin, S. Ganesh, A. Barbon, A.V. Polyakov, P. Munclinger, S. Halford, V. Baladrón, P.M. Borodin, E. Gubina, D.L. Kruitbosch, W. Bradford, M. van Geel, J. Sádlová, R. Podowski, S. Liptay, E. Gabrielson, V. Kashuba, D.M. Hunt, J. Trowsdale, I. Leverkoehne, P.M. Brickell, K. Amano, M. Meyer, M. Riemann, L.A. James, Y. Furukawa, G. Inghirami, A.B. McKie, Mariano Rocchi, J. Justesen, R. Hamelin, A.D. Gruber, R.M. Schmid, B.G. Beatty, D.S. Chiaur, Marja Steenman, G.W. Conrad, B. Kazmierczak, S. Meloche, M. Schmid, Y. Nakajima, H. Scholz, K. Sakamaki, A.-P.J. Huovila, C.L. Keck-Waggoner, M. Guttenbach, A. Protopopov, A. Marquardt, H. Hayes, C.N. Vlangos, D.J Haile, R.J.L.F. Lemmers, S. Barlati, H.M. Cann, C.F. Inglehearn, Y. Nakamura, E.S. Tasheva, J. Zima, E.R. Zabarovsky, C.A. Griffin, J.C. McHale, M. Pagano, J. Laborda, P. Spencer, M.D. Torres, P. Benda, J. van Hengel, I. Meloni, F. Van Roy, E.E. Tarttelin, B. Brintnell, S.S. Thorgeirsson, L.L. Hansen, F. Favara, S. Sanders, J. Piálek, H. Markholst, V.A. Trifonov, R. Karhu, S. Behrends, M.A. Alvarez Soria, T.P. Lushnikova, M. Iizaka, M.H. Hofker, L. Carim, C. Tiziana Storlazzi, C. Geffrotin, E.A. Isakova, H. Himmelbauer, R. Gizatullin, K. Yamakawa, V.G. Malikov, R.R. Frants, A. van Staalduinen, P. Adamson, B.S. Klein, S.H. Elsea, and P.A. Kroner
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Evolutionary biology ,Genetics ,Biology ,Molecular Biology ,Genetics (clinical) - Published
- 2000
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45. Subject Index Vol. 88, 2000
- Author
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D.B. Zimonjic, F. Vitelli, J. Trowsdale, K. Amano, N.A. Serdyukova, P. Munclinger, D. Frynta, I. Kärkkäinen, K. White, P. van Tuinen, R. Hamelin, G.W. Padberg, N.C. Popescu, M.N. Meyer, R.R. Frants, X. Estivill, Mariano Rocchi, K. Sakamaki, A.-P.J. Huovila, E. Gabrielson, H. Scholz, P.A. Voûte, M. Riemann, J. Bullerdiek, B. Kazmierczak, C.A. Griffin, G. Frelat, D.L. Kruitbosch, C.L. Keck-Waggoner, L.A. James, A. van Staalduinen, W. Bradford, H. Akashi, P. Staeheli, Y. Xie, P. Adamson, G. Inghirami, T.K. Kwon, J.M. Varley, A.B. McKie, J.C. McHale, M. Pagano, J.C.T. van Deutekom, S. Sugano, S. Beck, S. Fineschi, J. Sádlová, D. Baudry, I. Leverkoehne, B.H.F. Weber, S. Bonné, K. Vehse, A.J. Mungall, B.S. Klein, S.H. Elsea, E.R. Werner, Lidia Larizza, A. Ziegler, I. Dunham, P. Das, L. Leikepová, M.B. Qumsiyeh, G. Werner-Felmayer, S. Ganesh, M. Ogawa, A. Duval, I. Nanda, C. Von Kap-Her, C. Cenciarelli, J.E. Hewitt, J. Laborda, P.A. Kroner, S. Barlati, V. Kashuba, M. Escarceller, S. Halford, Y. Nakamura, M. Iizaka, M.H. Hofker, E. Sonnhammer, A.S. Graphodatsky, Y. Hey, G.W. Conrad, E.R. Zabarovsky, P. Spencer, R. Berger, E.S. Tasheva, D.M. Hunt, G. Zhao, F. Van Roy, A. Protopopov, R.J.L.F. Lemmers, F. Favara, M. Meyer, P.J. de Jong, H.M. Cann, C.F. Inglehearn, A. Renieri, P.M. Brickell, K. Yamakawa, M.J. Ruiz-Hidalgo, L. Hornum, N. Zijlstra, S.S. Thorgeirsson, A.V. Polyakov, S.W. Scherer, L.L. Hansen, M.D. Torres, P. Benda, J. van Hengel, I. Meloni, T. Ueda, V.G. Malikov, H.-J. Han, S. Nagata, J. Pellerin, E. Gubina, U. Zechner, L. Zhu, B. Brintnell, M.N. Ahmed, Andries Westerveld, H. Hameister, K.-R. Kim, R.M. Schmid, S. Liptay, E.E. Tarttelin, B.G. Beatty, K. Gopalbhai, S. Meloche, M. Schmid, L. Sumoy, A.D. Gruber, V. Baladrón, P.M. Borodin, C. Wiesmeijer, L. Carim, C. Wahlestedt, M. Pettenati, R. Podowski, A. Marquardt, H. Hayes, D.J Haile, E. Aikawa, Z.E. Zehner, S. Sanders, Y. Furukawa, O.V. Sablina, J. Piálek, A. Barbon, J. Justesen, P.L. Perelman, M.A. Alvarez Soria, Marcel M.A.M. Mannens, Y. Nakajima, K. Imai, S. Murthy, D.S. Chiaur, Marja Steenman, W. Parks, C. Tiziana Storlazzi, M. Guttenbach, C. Geffrotin, E.A. Isakova, C.N. Vlangos, M. Loda, S. Ferraboli, J. Zima, Cécile Jeanpierre, M. Erdel, R. Godbout, N.V. Vorobieva, T.P. Lushnikova, H. Himmelbauer, R. Gizatullin, M. van Geel, H. Winton, P.I. Patel, M. Busson-Leconiat, H.C. Duba, A.L. Hawkins, N. Andreu, J. Greenwood, N. Kanda, C. Le Chalony, M.C. Dickson, H. Stöhr, D. Demetrick, R. Karhu, S. Behrends, H. Markholst, and V.A. Trifonov
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Genetics ,Index (economics) ,Subject (documents) ,Biology ,Social science ,Molecular Biology ,Genetics (clinical) - Published
- 2000
- Full Text
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46. Molecular, Cytogenetic and Linkage Analysis of Chromosome 11p Regions Involved in Wilms’ Tumour and Associated Congenital Diseases
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Jan M.N. Hoovers, Marcel M.A.M. Mannens, Jet Bliek, P.A. Voûte, E. M. Bleeker-Wagemakers, Andries Westerveld, Peter Little, B. Redeker, Christa Heyting, Rosalyn Slater, and Rosalind M. John
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Genetics ,Chromosome Band ,Retinoblastoma ,Genetic linkage ,medicine ,Retinoblastoma protein ,biology.protein ,Chromosome ,Biology ,medicine.disease ,Gene ,Nuclear localization sequence ,Loss function - Abstract
Congenital deletions associated with human tumours have been described for retinoblastoma (chromosome band 13q 14; Yunis and Ramsay 1978) and the Wilms’ tumour-aniridia, genitourinary abnormalities and mental retardation triad (WAGR; chromosome band 11pl3; Riccardi et al. 1978, 1980; Francke et al. 1979). In both cases the deletions (loss of function) suggest the existence of tumour-suppressor genes within these regions. The retinoblastoma gene (Rb-1) has been cloned (Friend et al. 1986; Lee et al. 1987a) and its tumour-suppressor activity has been demonstrated (Huang et al. 1988). The gene encodes a protein with nuclear localization and DNA-binding capability (such as zinc-binding fingers) (Lee et al. 1987a,b) suggesting a regulatory function. Furthermore, in all retinoblastomas, both copies of the Rb gene are inactivated or transcribe altered mRNAs (Friend et al. 1986; Fung et al. 1987). The Rb gene product binds to several viral transforming proteins such as the E1A of the human adenovirus type 5, SV40 large T and human papilloma virus type 16 E7 oncogenes (summarized by Weinberg 1989), indicating that it might counteract these transforming proteins.
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- 1991
- Full Text
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47. Transformation and immortalization of diploid xeroderma pigmentosum fibroblasts
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A.J. van der Eb, B. Klein, Albert Pastink, Andries Westerveld, and Hanny Odijk
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Xeroderma Pigmentosum ,Xeroderma pigmentosum ,Cell Biology ,Transfection ,DNA ,Oncogene Proteins, Viral ,Simian virus 40 ,Biology ,Fibroblasts ,medicine.disease ,Molecular biology ,Diploidy ,Complementation ,Transformation (genetics) ,Plasmid ,medicine.anatomical_structure ,DNA, Viral ,medicine ,Humans ,Ploidy ,Fibroblast ,Immortalised cell line ,Cell Line, Transformed - Abstract
Diploid xeroderma pigmentosum (XP) skin fibroblast strains from various XP-complementation groups (B, C, G, and H) were transformed with an origin-defective SV40 early region or with the pSV3gpt plasmid. In the latter case, transfected cells were selected for their ability to express the dominant xgpt gene. Immortalized cell lines were obtained from XP-complementation groups C (8CA, 3MA, and 20MA; XP3MA and XP20MA were formerly considered to belong to complementation group I), G (2BI and 3BR), and H (2CS). No immortalized cells could be isolated from complementation group B (11BE). The immortalization frequency of wild-type diploid fibroblasts and diploid cultures from XP patients was not significantly increased by cotransfection with the SV40 early region plus several selected viral and cellular oncogenes. In fact, co-transfection with some of the oncogenes caused a marked decrease of the transformation frequency. The observed immortalization occurred at a frequency of approximately 5 × 10−8.
- Published
- 1990
48. Subject Index Vol. 56, 1991
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L. Dandolo, D.S. Gallagher, P.M. Kluin, A. Kuwano, B.H. Robinson, G. Otulakowski, S.P. Craig, N.J. Nowak, G. Levan, M. Van der Ploeg, M.A. Abruzzo, A.C.B. Peters, P. Stanislovitis, Charles E. Schwartz, M.C. Simmler, L.-C. Tsui, D.W. Threadgill, C.A. Kozak, D. Sheer, A. Kumamoto, M.C. Darmon, A.K. Raap, I.V. Nikitina, S.M. Zakian, S. Kubota, M. Kimura, D.H. Ledbetter, A. Goddard, S. Kohno, S.J. Sadler, T. Kajii, D.S. Gerhard, D.B. Farber, S.W. Scherer, JG Leroy, R.R. Mclnnes, Marcel M.A.M. Mannens, C. Rasberry, C. Hanson, M. Vercruyssen, T. Koizumi, J. Mallet, Rosalyn Slater, P. Avner, U. Francke, M. Rivière, N.B. Rubtsov, V.L. Singer, K.I. Kivirikko, E.K. Bijlsma, P. Parham, T.B. Nesterova, J.E. Womack, J. Spencer, M.C. Phelan, B. Redeker, S. Navankasattusas, G.N. Hendy, V.V.N.G. Rao, R.G. Lafreniere, J.W. Wessels, Y. Nakai, C. Szpirer, B.M. Cattanach, R.G. Taylor, Andries Westerveld, M. Westerman, I. Hansmann, J. George, E. Solomon, G.J. den Ottolander, S. Boularand, V.E. Powers, Roger E. Stevenson, H. Nakai, T. Abe, G.M. Greig, M. Danciger, N.S.-F. Ma, L. Pajunen, J. Hayakawa, G.C. Beverstock, C.-L. Hsieh, J.A. Miller, S. Schnittger, H.F. Willard, S.I. Radjabli, R.H. Brakenhoff, A. Geurts van Kessel, E.J. Dreef, S. Parikh, L. Shi, A.P. Jackson, H. van Kamp, T.B. Shows, K. Klinger, I.A. Noordermeer, C. Collet, M. Katsuki, V.G. Matveeva, J. García-Heras, S.C. Bock, T. Pihlajaniemi, R.E. Kibbelaar, M.G. Byers, F. Yang, H.A. Taylor, P. Van Oostveldt, J. Szpirer, E.P.J. Arnoldus, I.W. Craig, W.E. Fibbe, E.P. Evans, Franki Speleman, T. Shinohara, L.T. Williams, J.A. Escobedo, T.A. Jones, and T.J.M. Hulsebos
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Index (economics) ,Statistics ,Genetics ,Subject (documents) ,Biology ,Molecular Biology ,Genetics (clinical) - Published
- 1991
- Full Text
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49. Analysis of a constitutional balanced translocation T(1;17)(p36;q 11.2-12.1) in a neuroblastoma patient
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Anthony K.C. Chan, Andries Westerveld, N. Van Roy, P van der Drift, Rogier Versteeg, Genevieve Laureys, and Franki Speleman
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Cancer Research ,Neuroblastoma ,Genetics ,Cancer research ,medicine ,Chromosomal translocation ,Biology ,medicine.disease ,Molecular Biology - Published
- 1996
- Full Text
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50. Determination of the smallest region of amplification in chromosomal band 17P12 in malignant astrocytomas
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Engelien H. Bijleveld, Andries Westerveld, A.M.J. Voesten, and Theo J. M. Hulsebos
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Cancer Research ,Genetics ,Biology ,Molecular Biology ,Molecular biology - Published
- 1996
- Full Text
- View/download PDF
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