119 results on '"Izabela Szczerbal"'
Search Results
52. A Lack of Association between Polymorphisms of Three Positional Candidate Genes (CLASP2, UBP1, and FBXL2) and Canine Disorder of Sexual Development (78,XX; SRY-Negative)
- Author
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Izabela Szczerbal, Wojciech Niżański, Joanna Nowacka-Woszuk, Stanisław Dzimira, S. Salamon, Małgorzata Ochota, and Marek Switonski
- Subjects
Genetics ,Embryology ,Mutation ,Endocrinology, Diabetes and Metabolism ,Positional candidate ,Chromosome ,Histology ,Karyotype ,Biology ,medicine.disease_cause ,Phenotype ,Testis determining factor ,medicine ,Gene ,Developmental Biology - Abstract
A disorder of sexual development (DSD) of dogs with a female karyotype, missing SRY gene, and presence of testicles or ovotestes is quite commonly diagnosed. It is suggested that this disorder is caused by an autosomal recessive mutation; however, other models of inheritance have not been definitely ruled out. In an earlier study it was hypothesized that the mutation may reside in a pericentromeric region of canine chromosome 23 (CFA23). Three positional candidate genes (CLASP2, UBP1, and FBXL2) were selected in silico in the search for polymorphisms in 7 testicular or ovotesticular XX DSD dogs, 8 XX DSD dogs of unknown cause (SRY-negative, with enlarged clitoris and unknown histology of gonads), and 29 normal female dogs as a control group. Among the 15 molecularly studied dogs with enlarged clitoris there were 3 new cases of testicular or ovotesticular XX DSD and 4 new cases of XX DSD with unknown cause (histology of the gonads unknown). Altogether, 11 (including 10 novel) polymorphisms in 5′- and 3′-flanking regions of the studied genes were found. The distribution analysis of these polymorphisms showed no association with the DSD phenotypes. Thus, it was concluded that the presence of the causative mutation for testicular or ovotesticular XX DSD in the pericentromeric region of CFA23 is unlikely.
- Published
- 2014
53. Congenital sternal ectopia cordis in a Limousin calf – a case report
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Maria Nabzdyk, Marek Switonski, Hieronim Frąckowiak, Dorota Bukowska, B. Kociucka, Jędrzej Maria Jaśkowski, Izabela Szczerbal, and P. Antosik
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Pathology ,medicine.medical_specialty ,chromosomes ,Sternum ,Aneuploidy ,law.invention ,Pulmonary vein ,law ,medicine.artery ,Ascending aorta ,Medicine ,Pericardium ,Radiogram ,lcsh:Veterinary medicine ,General Veterinary ,business.industry ,arterial pattern ,Ectopia cordis ,Karyotype ,Anatomy ,medicine.disease ,medicine.anatomical_structure ,cattle ,cardiovascular system ,lcsh:SF600-1100 ,sternum ,business - Abstract
Recognition and detailed description of malformations and aberrations in domestic animals may be very useful in cognition of the problem and in creating breeding programs. The aim of this study was to describe a rare case of sternal (pectoral) ectopia cordis in a calf. A female calf of the Limousin breed born in Poland in 2011 was subjected to euthanasia because the heart was situated outside the chest. The carcass of the calf was subjected to anatomical examination in which alterations in cardiovascular system and in the structure of the sternum were observed. Cytogenetic studies were performed to find out if the karyotype of the calf was normal. Elongation of the ascending aorta was observed and the pattern of aortic branching was aberrant similarly to that found in dogs, not cattle. The systemic circulation was found to be linked to pulmonary circulation due to persisting large calibre arterial duct. Each of the ventricles had its own cardiac apex and walls of the ventricles manifested a similar width. The atria were slightly altered. A single, short and dilated blood vessel (pulmonary vein) evacuated its content to the left atrium. Pericardium formed no pericardial sac. Radiogram of the sternum demonstrated a ring-resembling shape and 12 (6 pairs) cartilaginous bars of the sternum (sternebrae). A normal female karytotype (60, XX) indicated that this malformation was not caused by an abnormal number of chromosomes (aneuploidy).
- Published
- 2014
54. Nutrition modulates Fto and Irx3 gene transcript levels, but does not alter their DNA methylation profiles in rat white adipose tissues
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E Pruszynska-Oszmalek, Izabela Szczerbal, Joanna Nowacka-Woszuk, and Maciej Szydlowski
- Subjects
0301 basic medicine ,Male ,medicine.medical_specialty ,Adipose Tissue, White ,Abdominal Fat ,Subcutaneous Fat ,Adipose tissue ,Alpha-Ketoglutarate-Dependent Dioxygenase FTO ,High-protein diet ,White adipose tissue ,Biology ,medicine.disease_cause ,Diet, High-Fat ,03 medical and health sciences ,Transcription (biology) ,Internal medicine ,Genetics ,medicine ,Animals ,Epigenetics ,Obesity ,Rats, Wistar ,Gene ,Homeodomain Proteins ,Body Weight ,General Medicine ,DNA Methylation ,Rats ,030104 developmental biology ,Endocrinology ,DNA methylation ,Homeobox ,Dietary Proteins ,Transcription Factors - Abstract
The fat mass and obesity associated (Fto) and iroquois homeobox 3 (Irx3) genes have been recognised as important obesity-related genes. Studies on the expression of these genes in the fat tissue of human and mouse have produced inconsistent results, while similar data on rat are limited. Environmental factors such as diet, should be considered as potential modulators of gene transcript levels through epigenetic mechanisms including DNA methylation. The aim of this study was to evaluate transcription levels and DNA methylation profiles of rat Fto and Irx3 genes in two white adipose tissue depots in response to high-fat and high-protein diets. The relative transcript levels of Fto and Irx3 were shown to be tissue-specific with higher levels detected in subcutaneous fat tissue than in abdominal fat tissue. Moreover, negative correlations between the transcripts of both genes were observed for subcutaneous fat tissue. The identified interactions (e.g. diet×duration of diet regimen) indicated that the diet had an impact on the transcript level; however, this effect was dependent on the duration of the diet regimen. The high-fat diet led to upregulation of Fto and Irx3 linearly with time across the two tissues. DNA methylation of the regulatory regions of the studied genes was very low and not related with the tissue, diet, or duration of diet regimen. Our study revealed that diet was an important factor modulating transcription of Fto and Irx3, but its effect is time-dependent. In contrast, the DNA methylation profiles of Fto and Irx3 were not altered by nutrition, which may indicate that the feeding type, when applied postnatally, did not affect DNA methylation of these genes.
- Published
- 2016
55. Novel Higher-Order Epigenetic Regulation of theBdnfGene upon Seizures
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Agnieszka Walczak, Marion Cremer, Monika Malinowska, Blazej Ruszczycki, Ewa Wilczek, Adriana Magalska, Marcin Rylski, Andrzej A. Szczepankiewicz, Jakub Wlodarczyk, Michal Dabrowski, Izabela Szczerbal, Katarzyna Zamłyńska, Marek Switonski, Katarzyna Zybura-Broda, Grzegorz M. Wilczynski, Joanna Dzwonek, Teresa Szczepińska, Krzysztof Pawłowski, and Marta Pyskaty
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General Neuroscience ,Cellular differentiation ,Tropomyosin receptor kinase B ,Biology ,medicine.anatomical_structure ,nervous system ,Gene expression ,medicine ,biology.protein ,Premovement neuronal activity ,Nuclear lamina ,Epigenetics ,Brief Communications ,Neuroscience ,Nucleus ,Neurotrophin - Abstract
Studies in cultured cells have demonstrated the existence of higher-order epigenetic mechanisms, determining the relationship between expression of the gene and its position within the cell nucleus. It is unknown, whether such mechanisms operate in postmitotic, highly differentiated cell types, such as neuronsin vivo. Accordingly, we examined whether the intranuclear positions ofBdnfandTrkbgenes, encoding the major neurotrophin and its receptor respectively, change as a result of neuronal activity, and what functional consequences such movements may have. In a rat model of massive neuronal activation upon kainate-induced seizures we found that elevated neuronal expression ofBdnfis associated with its detachment from the nuclear lamina, and translocation toward the nucleus center. In contrast, the position of stably expressedTrkbremains unchanged after seizures. Our study demonstrates that activation-dependent architectural remodeling of the neuronal cell nucleusin vivocontributes to activity-dependent changes in gene expression in the brain.
- Published
- 2013
56. Efficient production of multi-modified pigs for xenotransplantation by ‘combineering’, gene stacking and gene editing
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Valeri Zakhartchenko, Tatiana Flisikowska, Eckhard Wolf, Marek Switonski, Reinhard Schwinzer, Beate Rieblinger, Alexander Kind, Krzysztof Flisikowski, Joachim Denner, Konrad Fischer, Simone Kraner-Scheiber, Izabela Szczerbal, Wiebke Baars, Mayuko Kurome, Anna Buermann, Susanne Christan, Elena Plotzki, Heiner Niemann, Barbara Kessler, Angelika Schnieke, Marlene Edlinger, and Björn Petersen
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0301 basic medicine ,Graft Rejection ,Swine ,Xenotransplantation ,medicine.medical_treatment ,Transgene ,Transplantation, Heterologous ,CD59 ,Major histocompatibility complex ,Article ,Animals, Genetically Modified ,03 medical and health sciences ,Genome editing ,medicine ,CRISPR ,Animals ,Humans ,Gene Editing ,Multidisciplinary ,biology ,CD46 ,Complement System Proteins ,Molecular biology ,ddc ,Transplantation ,030104 developmental biology ,biology.protein ,Heterografts ,CRISPR-Cas Systems - Abstract
Xenotransplantation from pigs could alleviate the shortage of human tissues and organs for transplantation. Means have been identified to overcome hyperacute rejection and acute vascular rejection mechanisms mounted by the recipient. The challenge is to combine multiple genetic modifications to enable normal animal breeding and meet the demand for transplants. We used two methods to colocate xenoprotective transgenes at one locus, sequential targeted transgene placement - ‘gene stacking’ and cointegration of multiple engineered large vectors - ‘combineering’, to generate pigs carrying modifications considered necessary to inhibit short to mid-term xenograft rejection. Pigs were generated by serial nuclear transfer and analysed at intermediate stages. Human complement inhibitors CD46, CD55 and CD59 were abundantly expressed in all tissues examined, human HO1 and human A20 were widely expressed. ZFN or CRISPR/Cas9 mediated homozygous GGTA1 and CMAH knockout abolished α-Gal and Neu5Gc epitopes. Cells from multi-transgenic piglets showed complete protection against human complement-mediated lysis, even before GGTA1 knockout. Blockade of endothelial activation reduced TNFα-induced E-selectin expression, IFNγ-induced MHC class-II upregulation and TNFα/cycloheximide caspase induction. Microbial analysis found no PERV-C, PCMV or 13 other infectious agents. These animals are a major advance towards clinical porcine xenotransplantation and demonstrate that livestock engineering has come of age.
- Published
- 2016
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57. Chromosome Abnormalities in Domestic Animals as Causes of Disorders of Sex Development or Impaired Fertility
- Author
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Marek Switonski and Izabela Szczerbal
- Subjects
medicine.diagnostic_test ,media_common.quotation_subject ,medicine ,Chromosome mutations ,Physiology ,Chromosome ,Karyotype ,Fertility ,Disorders of sex development ,Biology ,medicine.disease ,Fluorescence in situ hybridization ,media_common - Abstract
Cytogenetic evaluation is an important step in the diagnosis of infertile or sterile animals. Moreover, the analysis of sex chromosomes is crucial for a proper classification of disor‐ ders of sex development (DSD). For many years, chromosome studies mainly addressed the livestock species, while recently, increasing interest in such analysis in companion an‐ imals is observed. New molecular and cytogenetic tools and techniques have given op‐ portunities for a precise identification of chromosome mutations. Among them, fluorescence in situ hybridization, besides chromosome banding, has become a gold standard. In this chapter, recent advances in the cytogenetic diagnosis of cattle, pigs, horses, dogs and cats are presented.
- Published
- 2016
58. A Rare Case of Testicular Disorder of Sex Development in a Dog (78,XX; SRY-Negative) with Male External Genitalia and Detection of Copy Number Variation in the Region Upstream of the SOX9 Gene
- Author
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Izabela, Szczerbal, Joanna, Nowacka-Woszuk, Stanislaw, Dzimira, Wojciech, Atamaniuk, Wojciech, Nizanski, and Marek, Switonski
- Subjects
Male ,Dogs ,DNA Copy Number Variations ,Karyotyping ,Y Chromosome ,Disorders of Sex Development ,Animals ,Humans ,SOX9 Transcription Factor ,Genitalia, Male ,Chromosomes, Human, Pair 9 ,Testicular Diseases - Abstract
Testicular or ovotesticular disorder of sex development (DSD) in genetic females (78,XX; SRY-negative) has been reported quite frequently in numerous dog breeds and is usually diagnosed due to the presence of female external genitalia with an enlarged clitoris. The molecular background of this disorder, diagnosed also in human and other mammals, is not fully understood. However, it has recently been proposed that a copy number variation (CNV) in the region upstream of the SOX9 gene is associated with it. We described a rare case of this disorder in a French Bulldog with abdominal testes and male external genitalia (a slightly malformed penis). FISH studies showed a female karyotype, lack of a translocation involving the Y chromosome, and a distinct size variation in the CNV region (CNVR) upstream of the SOX9 gene, located on chromosome 9 (CFA9). A large FISH variant on a single CFA9 and a lack of the variant on its homologue was observed. Surprisingly, in the mother of this DSD dog, 2 normal-sized variants were identified which means that the CNV in the DSD dog was de novo. Our observations are in agreement with earlier suggestions that a high number of copies at the CNVR upstream of SOX9 may be associated with this type of DSD.
- Published
- 2016
59. Genetics of Adiposity in Large Animal Models for Human Obesity—Studies on Pigs and Dogs
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Marek Switonski, Monika Stachowiak, and Izabela Szczerbal
- Subjects
0301 basic medicine ,Genetics ,education.field_of_study ,ved/biology ,Population ,ved/biology.organism_classification_rank.species ,Adipose tissue ,Genome-wide association study ,Quantitative trait locus ,Biology ,Genome ,03 medical and health sciences ,Domestic pig ,030104 developmental biology ,SNP ,education ,Model organism - Abstract
The role of domestic mammals in the development of human biomedical sciences has been widely documented. Among these model species the pig and dog are of special importance. Both are useful for studies on the etiology of human obesity. Genome sequences of both species are known and advanced genetic tools [eg, microarray SNP for genome wide association studies (GWAS), next generation sequencing (NGS), etc.] are commonly used in such studies. In the domestic pig the accumulation of adipose tissue is an important trait, which influences meat quality and fattening efficiency. Numerous quantitative trait loci (QTLs) for pig fatness traits were identified, while gene polymorphisms associated with these traits were also described. The situation is different in dog population. Generally, excessive accumulation of adipose tissue is considered, similar to humans, as a complex disease. However, research on the genetic background of canine obesity is still in its infancy. Between-breed differences in terms of adipose tissue accumulation are well known in both animal species. In this review we show recent advances of studies on adipose tissue accumulation in pigs and dogs, and their potential importance for studies on human obesity.
- Published
- 2016
60. Expression of genes involved in lipid droplet formation (BSCL2, SNAP23 and COPA) during porcine in vitro adipogenesis
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B. Kociucka, Izabela Szczerbal, Tatiana Flisikowska, and Dariusz Mróz
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0301 basic medicine ,Swine ,Cellular differentiation ,Fatness ,Adipose tissue ,Biology ,Coatomer Protein ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,Adipocyte ,Lipid droplet ,GTP-Binding Protein gamma Subunits ,Genetics ,Adipocytes ,Animals ,Qc-SNARE Proteins ,Obesity ,Progenitor cell ,Cellular compartment ,Cells, Cultured ,Pig ,Adipogenesis ,Model organism ,Mesenchymal stem cell ,Cell Differentiation ,General Medicine ,Lipid Droplets ,Qb-SNARE Proteins ,030104 developmental biology ,Animal Genetics • Original Paper ,Biochemistry ,chemistry ,Mesenchymal stem cells ,030217 neurology & neurosurgery - Abstract
Adipogenesis is a complex process of fat cells development driven by the expression of numerous genes. Differentiation of progenitor cells into mature adipocytes is accompanied by changes in cell shape, as a result of lipid accumulation. In the present study, expression of three genes involved in lipid droplet formation (SNAP23, BSCL2 and COPA) was evaluated during porcine adipogenesis. It was found that mRNA levels of BSCL2 and SNAP23, but not COPA, increased during differentiation. Redistribution of SNAP23 protein to different cellular compartments was observed when comparing undifferentiated mesenchymal stem cells and differentiated adipocytes. The BSCL2 protein was found to be highly specific to cells with accumulated lipids, while COPA protein coated the lipid droplets. Obtained results indicated that the studied genes may be considered as candidates for fatness traits in pigs. Moreover, this study has shown that the porcine in vitro adipogenesis system provides a useful tool for the characterisation of novel genes involved in adipose tissue accumulation. Electronic supplementary material The online version of this article (doi:10.1007/s13353-016-0350-9) contains supplementary material, which is available to authorized users.
- Published
- 2015
61. Hypospadias in a Male (78,XY; SRY-Positive) Dog and Sex Reversal Female (78,XX; SRY-Negative) Dogs: Clinical, Histological and Genetic Studies
- Author
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Rita Payan-Carreira, M. Bartz, Bruno Colaço, Maria dos Anjos Pires, Joanna Nowacka-Woszuk, Małgorzata Ochota, Izabela Szczerbal, Wojciech Niżański, and Marek Switonski
- Subjects
Embryology ,medicine.medical_specialty ,Endocrinology, Diabetes and Metabolism ,Physiology ,Karyotype ,Sex reversal ,Biology ,medicine.disease ,Endocrinology ,Testis determining factor ,Hypospadias ,SRD5A2 ,Internal medicine ,Mutation (genetic algorithm) ,medicine ,Developmental Biology - Abstract
Hypospadias is rarely reported in dogs. In this study we pre-sent 2 novel cases of this disorder of sexual development and, in addition, a case of hereditary sex reversal in a female with an enlarged clitoris. The first case was a male Moscow watchdog with a normal karyotype (78,XY) and the presence of the SRY gene. In this dog, perineal hypospadias, bilateral inguinal cryptorchidism and testes were observed. The second case, representing the Cocker spaniel breed, had a small penis with a hypospadic orifice of the urethra, bilateral cryptorchidism, testis and a rudimentary gonad inside an ovarian bursa, a normal female karyotype (78,XX) and a lack of the SRY gene. This animal was classified as a compound sex reversal (78,XX, SRY-negative) with the hypospadias syndrome. The third case was a Cocker spaniel female with an enlarged clitoris and internally located ovotestes. Cytogenetic and molecular analyses revealed a normal female karyotype (78,XX) and a lack of the SRY gene, while histology of the gonads showed an ovotesticular structure. This case was classified as a typical hereditary sex reversal syndrome (78,XX, SRY-negative). Molecular studies were focused on coding sequences of the SRY gene (case 1) and 2 candidates for monogenic hypospadias, namely MAMLD1 (mastermind-like domain containing 1) and SRD5A2 (steroid-5-alpha-reductase, alpha polypeptide 2). Sequencing of the entire SRY gene, including 5′- and 3′-flanking regions, did not reveal any mutation. The entire coding sequence of MAMLD1 and SRD5A2 was analyzed in all the intersexes, as well as in 4 phenotypically normal control dogs (3 females and 1 male). In MAMLD1 2 SNPs, including 1 missense substitution in exon 1 (c.128A>G, Asp43Ser), were identified, whereas in SRD5A2 7 polymorphisms, including 1 missense SNP (c.358G>A, Ala120Thr), were found. None of the identified polymorphisms cosegregated with the intersexual phenotype, thus, we cannot confirm that hypospadias may be associated with polymorphism in the coding sequence of the studied genes.
- Published
- 2011
62. Robertsonian Translocation in a Sex Reversal Dog (XX, SRY negative) May Indicate that the Causative Mutation for This Intersexuality Syndrome Resides on Canine Chromosome 23 (CFA23)
- Author
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Izabela Szczerbal, Wojciech Niżański, M. Bartz, N. Mikolajewska, Marek Switonski, B. Kociucka, and Stanisław Dzimira
- Subjects
Chromosome Aberrations ,Male ,Genetics ,Embryology ,Ovotestis ,Endocrinology, Diabetes and Metabolism ,Disorders of Sex Development ,Chromosome ,Robertsonian translocation ,Chromosomal translocation ,Biology ,Sex reversal ,medicine.disease ,medicine.disease_cause ,Translocation, Genetic ,Dogs ,Testis determining factor ,Mutation ,Chromosome abnormality ,medicine ,Animals ,Female ,In Situ Hybridization, Fluorescence ,X chromosome ,Developmental Biology - Abstract
A Bernese mountain dog was subjected for clinical evaluation due to the presence of ambiguous external genitalia (enlarged clitoris). Anatomical and histological studies revealed the presence of one testicle, one ovotestis and a uterus. This dog was classified as a female-to-male sex reversal, with 2 normal X chromosomes and a lack of the Y chromosome-linked genes SRY and ZFY. It is the first case of this syndrome in this breed. Apparently a Robertsonian translocation, rob(5;23), was also identified in this dog and it is again the first case of this type of chromosome abnormality in this breed, as well as the first case of co-occurrence of the sex reversal syndrome along with a centric fusion in the dog. Since on the canine chromosome 23 (CFA23) 3 genes (FOXL2,PISRT1 and CTNNB1) involved in the sex determination process are present, further cytogenetic FISH studies were carried out with the use of BAC probes specific for this chromosome. It was found that a pericentromeric fragment of CFA23 was deleted as a result of the centric fusion. We hypothesize that a cis regulatory sequence for the sex determination genes on CFA23 (e.g. proximally located CTNNB1) is present in the deleted fragment. Thus, a causative mutation responsible for this sex reversal syndrome may reside on CFA23.
- Published
- 2011
63. Two Candidate Genes (FTO and INSIG2) for Fat Accumulation in Four Canids: Chromosome Mapping, Gene Polymorphisms and Association Studies of Body and Skin Weight of Red Foxes
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Honorata Fijak-Nowak, Izabela Szczerbal, M. Grzes, Marek Switonski, and Maciej Szydlowski
- Subjects
Genetics ,Candidate gene ,Alpha-Ketoglutarate-Dependent Dioxygenase FTO ,INSIG2 ,Genetic predisposition ,Genome-wide association study ,Single-nucleotide polymorphism ,Biology ,Molecular Biology ,Gene ,FTO gene ,Genetics (clinical) - Abstract
Fat accumulation is a polygenic trait which has a significant impact on human health and animal production. Obesity is also an increasingly serious problem in dog breeding. The FTO and INSIG2 are considered as candidate genes associated with predisposition for human obesity. In this report we present a comparative genomic analysis of these 2 genes in 4 species belonging to the family Canidae – the dog and 3 species which are kept in captivity for fur production, i.e. red fox, arctic fox and Chinese raccoon dog. We cytogenetically mapped these 2 loci by FISH and compared the entire coding sequence of INSIG2 and a fragment of the coding sequence of FTO. The FTO gene was assigned to the following chromosomes: CFA2q25 (dog), VVU2q21 (red fox), ALA8q25 (arctic fox) and NPP10q24–25 (Chinese raccoon dog), while the INSIG2 was mapped to CFA19q17, VVU5p14, ALA24q15 and NPP9q22, respectively. Altogether, 29 SNPs were identified (16 in INSIG2 and 13 in FTO) and among them 2 were missense substitutions in the dog (23C/T, Thr>Met in the FTO gene and 40C/A, Arg>Ser in INSIG2). The distribution of these 2 SNPs was studied in 14 dog breeds. Two synonymous SNPs, one in the FTO gene (–28T>C in the 5′-flanking region) and one in the INSIG2 (10175C>T in intron 2), were used for the association studies in red foxes (n = 390) and suggestive evidence was observed for their association with body weight (FTO, p < 0.08) and weight of raw skin (INSIG2, p < 0.05). These associations indicate that both genes are potential candidates for growth or adipose tissue accumulation in canids. We also suggest that the 2 missense substitutions found in dogs should be studied in terms of genetic predisposition to obesity.
- Published
- 2011
64. A Case of Y-Autosome Reciprocal Translocation in a Holstein-Friesian Bull
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W Krumrych, Izabela Szczerbal, Marek Switonski, and Joanna Nowacka-Woszuk
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Male ,Chromosomes, Artificial, Bacterial ,medicine.medical_specialty ,animal diseases ,medicine.medical_treatment ,Chromosomal translocation ,Biology ,Y chromosome ,Translocation, Genetic ,fluids and secretions ,Y Chromosome ,Internal medicine ,Genetics ,medicine ,Animals ,Molecular Biology ,In Situ Hybridization, Fluorescence ,Genetics (clinical) ,Testosterone ,Autosome ,medicine.diagnostic_test ,Artificial insemination ,Karyotype ,Breed ,Endocrinology ,Cattle ,Fluorescence in situ hybridization - Abstract
Cytogenetic evaluation of young bulls of the Polish Holstein-Friesian breed, tested before approving for use in artificial insemination, revealed a carrier of a Y-autosome reciprocal translocation. The applied chromosome banding techniques and fluorescence in situ hybridization (FISH), with the use of locus-specific BAC probes, facilitated description of the translocation as t(Y;21)(p11;q11). The bull presented normal development, including body weight and the size of testicles, as well as libido. Testosterone concentration at the age of 8 months was similar in the carrier and a normal bull of the same age, but at the age of 12 months the testosterone concentration appeared to be lower in the carrier.
- Published
- 2010
65. Müllerian Duct Syndrome in a Unilateral Cryptorchid Dog With a Sertoli Cell TumoUr and Cystic Endometrial Hyperplasia
- Author
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Marek Switonski, Ann Van Soom, Eline Wydooghe, Izabela Szczerbal, Leen Van Brantegem, and Joanna Nowacka-Woszuk
- Subjects
Pathology ,medicine.medical_specialty ,medicine.anatomical_structure ,General Veterinary ,business.industry ,Sertoli cell tumour ,Medicine ,Cystic Endometrial Hyperplasia ,business ,medicine.disease ,Duct (anatomy) ,Pathology and Forensic Medicine - Published
- 2018
66. The pigCART(cocaine- and amphetamine-regulated transcript) gene and association of its microsatellite polymorphism with production traits
- Author
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Marek Switonski, Izabela Szczerbal, Anna Skorczyk, J. Cieslak, Monika Stachowiak, J. Nowakowska, and Maciej Szydlowski
- Subjects
Cart ,Candidate gene ,Meat ,Molecular Sequence Data ,Sus scrofa ,Nerve Tissue Proteins ,Single-nucleotide polymorphism ,Breeding ,Biology ,Polymorphism, Single Nucleotide ,Cocaine and amphetamine regulated transcript ,Gene Frequency ,Food Animals ,Short Tandem Repeat Polymorphism ,Chromosome regions ,Animals ,Allele ,Gene ,In Situ Hybridization, Fluorescence ,Phylogeny ,DNA Primers ,Genetics ,Base Sequence ,Sequence Analysis, DNA ,General Medicine ,Chromosomes, Mammalian ,Molecular biology ,Body Composition ,Animal Science and Zoology ,Microsatellite Repeats - Abstract
Summary The cocaine- and amphetamine-regulated transcript (CART) gene is a candidate gene that may affect performance and body composition traits in the pig. The purpose of this study was to establish the chromosomal localization and genomic sequence of the porcine CART gene, search for polymorphism and analyse its phenotypic effect in 644 pigs representing two breeds, Polish Large White (PLW) and Polish Landrace (PL), and a synthetic line 990 (L990). The CART gene was fluorescence in situ hybridization (FISH)-mapped to the chromosome 16q21. The 1878 bp DNA fragment covering three exons, two introns and the 5¢ flanking region was sequenced and analysed. A new A ⁄G single nucleotide polymorphism (SNP) at position )238 bp was found. The coding sequence was conserved between porcine and human CART genes. Previously unknown short tandem repeat polymorphism (CA)2(CG)n(CA)n was identified in intron 2. Three alleles 251, 253 and 259 bp were found. The 251-bp allele was predominant in all the analysed populations of pigs, whereas the 253-bp allele occurred with the lowest frequency. The statistical analysis revealed significant allelic additive effects on meat content in carcass (p < 0.05) and abdominal fat weight (p < 0.01) in PLW, and meat content in carcass (p < 0.05) and backfat thickness (p < 0.05) in PL. Our study confirmed that chromosome region harbouring the CART gene is a promising quantitative trait loci for pig production traits.
- Published
- 2009
67. Identification of a new reciprocal translocation in an AI bull by synaptonemal complex analysis, followed by chromosome painting
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C. Kopp, Marek Switonski, Magnus Andersson, Joanna Nowacka-Woszuk, Izabela Szczerbal, H. Cernohorska, Jiri Rubes, and J. Sosnowski
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Male ,Genetics ,Synaptonemal Complex ,Chromosome ,Chromosomal translocation ,Chromosomal rearrangement ,Biology ,Translocation, Genetic ,Giemsa stain ,Bivalent (genetics) ,Chromosome Painting ,Staining ,Microscopy, Electron ,Synaptonemal complex ,Animals ,Cattle ,Chromosome painting ,Molecular Biology ,Genetics (clinical) - Abstract
An AI Ayrshire bull was subjected to cytogenetic examination due to lowered fertility. Preliminary Giemsa staining revealed a normal chromosome complement (60,XY) and G-banding did not allow us to draw a clear conclusion concerning an occurrence of chromosome rearrangement. Testicles were collected at slaughter and synaptonemal complex (SC) analysis revealed a large cross-shaped tetravalent configuration in pachytene spreads. No association between the tetravalent and XY bivalent was observed. Chromosome painting, with the use of bovine whole chromosome painting probes, conjugated with DAPI staining, facilitated a detailed description of the translocation rcp(2;4)(q45;q34). This study shows that post mortem analysis of synaptonemal complexes is a simple and useful tool for the preliminary detection of reciprocal translocation carriers.
- Published
- 2008
68. Cytogenetic mapping and STR polymorphism of two candidate genes (DRD2 and HTR1D) for behaviour traits in four canids (short communication)
- Author
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Magdalena Racka, Marek Switonski, Izabela Szczerbal, Gaudenz Dolf, Claude Schelling, Joanna Nowacka-Woszuk, and Jolanta Klukowska-Roetzler
- Subjects
Cultural Studies ,Drd2 gene ,Genetics ,Candidate gene ,biology ,HTR1D gene ,biology.animal ,In situ hybridisation ,Religious studies ,Intron ,Microsatellite ,Arctic fox ,Gene - Abstract
The dopamine D2 receptor (DRD2) and serotonin receptors 1D (HTR1D) are candidate genes for behavioural traits. In the present study, we show chromosomal location and polymorphism of these genes in four species from the family Canidae: dog (CFA), red fox (VVU), arctic fox (ALA) and the Chinese raccoon dog (NPP). Using fluorescence in situ hybridisation (FISH) the DRD2 gene was localized in the following chromosomes: CFA5q12-13, VVU12q21, ALA10q14 and NPP3q14 and the HTR1D gene was mapped to: CFA2q25, VVU2q22, ALA8q25 and NPP10q25. A microsatellite marker (TG)n in intron 3 of the DRD2 gene and (CA)n motif located in a 3’-flanking region of the HTR1D gene were polymorphic in all studied species. The obtained results can be helpful in further studies on effects of polymorphisms of these genes on behaviour traits in canids.
- Published
- 2007
69. Cytogenetic mapping ofDGAT1, PPARA, ADIPOR1 andCREB genes in the pig
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Krzysztof Flisikowski, Ruedi Fries, Marek Switonski, Li Lin, Izabela Szczerbal, Andreas Dr Winter, M. Mackowski, Monika Stachowiak, and Agata Chmurzynska
- Subjects
Chromosomes, Artificial, Bacterial ,Sus scrofa ,Potential candidate ,Receptors, Cell Surface ,Quantitative trait locus ,CREB ,Cytogenetics ,Chromosome regions ,Genetics ,Animals ,SNP ,PPAR alpha ,Diacylglycerol O-Acyltransferase ,Cyclic AMP Response Element-Binding Protein ,Gene ,In Situ Hybridization, Fluorescence ,DNA Primers ,Base Sequence ,biology ,Chromosome Mapping ,General Medicine ,Human genetics ,biology.protein ,%22">Fish ,Adiponectin - Abstract
In the present study we show FISH localization of 4 porcine BAC clones harbouring potential candidate genes for fatness traits: DGAT1 (SSC4p15), PPARA (SSC5p15), ADIPOR1 (SSC10p13) and CREB (SSC15q24). Until now the CREB and ADIPOR1 genes are considered to be monomorphic, DGAT1 is highly polymorphic, while for the PPARA gene only 1 SNP was identified. Assignment of the studied genes in relation to QTL chromosome regions for meat quality in pig chromosomes SSC4, SSC5, SSC10 and SSC15 is discussed.
- Published
- 2007
70. Cytogenetic mapping of eight genes encoding fatty acid binding proteins (FABPs) in the pig genome
- Author
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Agata Chmurzynska, Marek Switonski, and Izabela Szczerbal
- Subjects
Male ,Genetics ,Chromosomes, Artificial, Bacterial ,Genome ,Base Sequence ,Swine ,Chromosome Mapping ,FABP6 ,Quantitative trait locus ,FABP7 ,Biology ,Fatty Acid-Binding Proteins ,Molecular biology ,Fatty acid-binding protein ,Chromosome 4 ,Chromosome regions ,Animals ,Molecular Biology ,Gene ,In Situ Hybridization, Fluorescence ,Genetics (clinical) ,DNA Primers - Abstract
In the present study cytogenetic localization of eight fatty acid binding protein genes in the pig genome was shown. BAC clones, containing sequences of selected genes (FABP1, FABP2, FABP3, FABP4, FABP5, FABP6, FABP7 and FABP8) were derived from porcine BAC libraries and mapped by FISH to porcine chromosomes (SSC) 3q12, 8q25, 6q26, 4q12, 4q12, 16q22, 1p22 and 4q12, respectively. Detailed analyses of regions containing gene clusters (FABP4, FABP5, FABP8) in chromosome 4 were performed and their order was established. It was shown that these three genes are located beyond the FAT1 region. Assignment of the FABP genes to chromosome regions harboring quantitative trait loci (QTL) for fat deposition is discussed.
- Published
- 2007
71. Diet-induced variability of the resistin gene (Retn) transcript level and methylation profile in rats
- Author
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Izabela Szczerbal, Slawomir Sadkowski, E Pruszynska-Oszmalek, Joanna Nowacka-Woszuk, and Maciej Szydlowski
- Subjects
Male ,Aging ,medicine.medical_specialty ,5' Flanking Region ,Molecular Sequence Data ,Adipose tissue ,Biology ,Insulin resistance ,Internal medicine ,Gene expression ,Dietary Carbohydrates ,Genetics ,medicine ,Animals ,Glucose homeostasis ,Genetics(clinical) ,Resistin ,RNA, Messenger ,Obesity ,Rats, Wistar ,Base Pairing ,Genetics (clinical) ,DNA methylation ,Base Sequence ,Methylation ,Diets ,medicine.disease ,Diet ,Endocrinology ,Rat ,Research Article ,Hormone - Abstract
Background Adipose tissue is recognized as a highly active metabolic and endocrine organ. The hormones secreted by this tissue play an important role in many biochemical processes. It is known that dysfunction of adipocytes can cause insulin resistance, type 2 diabetes or hyperlipidemia. One of the important factors produced in fat tissue is resistin (Retn). It has been postulated that this hormone is involved in glucose homeostasis and insulin resistance. In the present study, the impact of five diet types (ad libitum normal, restricted, high-carbohydrate, high-fat and high-protein) on the Retn gene transcription and methylation profile was evaluated in rats of different ages. Results Transcript levels and methylation status of the Retn gene were studied in three tissues (muscle, subcutaneous and abdominal fat) in rats at 30, 60 and 120 days of age. We found an effect of tissue type on the Retn transcription in all diet types, as well as an effect of feeding type and age on the mRNA levels for high-fat and high-protein diets. The DNA methylation levels depended only on tissue type. Conclusions The obtained results demonstrate a tissue-specific expression pattern and a characteristic DNA methylation profile of the Retn gene in rats. Retn expression seems to be sensitive to nutritional changes, but only in the case of high-fat and high-protein diets. Moreover, an effect of age on Retn mRNA content was observed in these diets. Because no correlation between the transcript level and methylation status was found, we assumed that the transcription control of this gene by DNA methylation of the promoter seems to be unlikely. Electronic supplementary material The online version of this article (doi:10.1186/s12863-015-0270-4) contains supplementary material, which is available to authorized users.
- Published
- 2015
72. Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)
- Author
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Izabela Szczerbal, Rita Payan-Carreira, Wojciech Niżański, Ruedi Fries, Marek Switonski, Hubert Pausch, Malgorzata Marcinkowska-Swojak, Krzysztof Flisikowski, Joanna Nowacka-Woszuk, Piotr Kozlowski, and Stanisław Dzimira
- Subjects
X Chromosome ,DNA Copy Number Variations ,Biology ,medicine.disease_cause ,Article ,Generalities, science ,Dogs ,Gene Duplication ,Gene duplication ,medicine ,Animals ,Copy-number variation ,Multiplex ligation-dependent probe amplification ,Dog Diseases ,Gene ,X chromosome ,Cells, Cultured ,Genetic Association Studies ,Genetics ,Mutation ,Multidisciplinary ,Polymorphism, Genetic ,Karyotype ,SOX9 Transcription Factor ,ddc ,Ovotesticular Disorders of Sex Development ,Testis determining factor ,ddc:000 ,Female - Abstract
Although the disorder of sex development in dogs with female karyotype (XX DSD) is quite common, its molecular basis is still unclear. Among mutations underlying XX DSD in mammals are duplication of a long sequence upstream of the SOX9 gene (RevSex) and duplication of the SOX9 gene (also observed in dogs). We performed a comparative analysis of 16 XX DSD and 30 control female dogs, using FISH and MLPA approaches. Our study was focused on a region harboring SOX9 and a region orthologous to the human RevSex (CanRevSex), which was located by in silico analysis downstream of SOX9. Two highly polymorphic copy number variable regions (CNVRs): CNVR1 upstream of SOX9 and CNVR2 encompassing CanRevSex were identified. Although none of the detected copy number variants were specific to either affected or control animals, we observed that the average number of copies in CNVR1 was higher in XX DSD. No copy variation of SOX9 was observed. Our extensive studies have excluded duplication of SOX9 as the common cause of XX DSD in analyzed samples. However, it remains possible that the causative mutation is hidden in highly polymorphic CNVR1., Scientific Reports, 5, ISSN:2045-2322
- Published
- 2015
73. Chromosome Instability in a Calf with Amelia of Thoracic Limbs
- Author
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Marek Switonski, J Siembieda, Izabela Szczerbal, Wojciech Niżański, Tadeusz Stefaniak, and A Dubiel
- Subjects
Male ,0301 basic medicine ,Ectromelia ,040301 veterinary sciences ,Cattle Diseases ,Chromosome Disorders ,Biology ,0403 veterinary science ,03 medical and health sciences ,Chromosomal Instability ,Chromosome instability ,Forelimb ,medicine ,Animals ,Metaphase ,General Veterinary ,Chromosome ,Karyotype ,04 agricultural and veterinary sciences ,Anatomy ,medicine.disease ,030104 developmental biology ,Animals, Newborn ,Karyotyping ,Micronucleus test ,Cattle ,Chromatid ,Congenital disorder - Abstract
We report here on a case of a Holstein-Friesian male calf with the congenital total absence of thoracic limbs (amelia). cytogenetic study showed a high rate of chromosome instability, represented by chromosome or chromatid breaks and gaps in 46% of the analyzed metaphase spreads. Moreover, 12% of the spreads appeared to be polypolid. The number of micronuclei also was significantly higher when compared to control animals. This paper discusses the association between chromosome instability and limb malformation.
- Published
- 2006
74. X monosomy in a virilized female cat
- Author
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Joanna Nowacka-Woszuk, Marek Switonski, Stanisław Dzimira, Małgorzata Ochota, Izabela Szczerbal, and Wojciech Niżański
- Subjects
endocrine system ,medicine.medical_specialty ,Monosomy ,Uterus ,Disorders of Sex Development ,Aneuploidy ,Biology ,Cat Diseases ,Andrology ,Endocrinology ,Internal medicine ,medicine ,Animals ,X chromosome ,Sex Chromosome Aberrations ,medicine.diagnostic_test ,urogenital system ,Virilization ,medicine.disease ,Virilism ,medicine.anatomical_structure ,Testis determining factor ,Cats ,Animal Science and Zoology ,Female ,medicine.symptom ,Penis ,Biotechnology ,Fluorescence in situ hybridization - Abstract
An infertile Siamese female cat was subjected for clinical, histological, cytogenetic and molecular studies due to ambiguous external genitalia (vulva, vagina, rudimentary penis and scrotum-like structure) and masculine behaviour. An elevated oestrogen activity and a detectable level of testosterone were found. The cat underwent laparotomy. The gonads and the uterus were removed and subjected for histological studies, which showed ovaries with corpora lutea and a some primordial follicles. Chromosome studies of lymphocyte and fibroblast cultures, with the use of Giemsa staining, G-banding and whole X chromosome painting by fluorescence in situ hybridization, revealed pure X monosomy. Molecular analysis showed the absence of the SRY gene. Our study revealed for the first time that X monosomy in cats may be associated with virilization, in spite of the lack of the SRY gene.
- Published
- 2014
75. Sex reversal syndrome (64,XY; SRY-positive) in a mare demonstrating masculine behaviour
- Author
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Izabela Szczerbal, A. Lipczynski, Marek Switonski, Agata Chmurzynska, A. Nowicka‐Posłuszna, and Fengtang Yang
- Subjects
Infertility ,X Chromosome ,Chromosome Disorders ,Biology ,Sexual Behavior, Animal ,Food Animals ,medicine ,Animals ,Testosterone ,Horses ,Genes, sry ,X chromosome ,Chromosome Aberrations ,Genetics ,Testicular feminization ,Chromosome ,Genitalia, Female ,Sequence Analysis, DNA ,General Medicine ,Sex reversal ,medicine.disease ,Testis determining factor ,Cytogenetic Analysis ,Female ,Horse Diseases ,Animal Science and Zoology ,Androgen insensitivity syndrome - Abstract
Summary A 5-year-old Thoroughbred mare was subjected to cytogenetic and molecular analysis because of infertility and masculine behaviour. Chromosome studies, including painting with the whole X chromosome specific probe, revealed a male chromosome complement (64,XY). The PCR amplification of the SRY and ZFY genes showed the presence of both those genes, while the endocrinological study demonstrated a high level of testosterone (9.7 nmol/l). Sequencing of the SRY gene (1121 bp), comprising also 5′- and 3′-UTRs, did not reveal any differences when compared with the sequence of normal stallions. It was proposed that this mare represents the androgen insensitivity syndrome (testicular feminization syndrome).
- Published
- 2005
76. Characterization and mapping of canine microsatellites isolated from BAC clones harbouring DNA sequences homologous to seven human genes
- Author
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A. Wengi-Piasecka, Marek Switonski, Izabela Szczerbal, A. Gmür, C. Schelling, Gaudenz Dolf, and J. Klukowska
- Subjects
Chromosomes, Artificial, Bacterial ,Molecular Sequence Data ,Foxes ,Biology ,DNA sequencing ,law.invention ,Dogs ,Plasmid ,Genetic linkage ,law ,Genetics ,Animals ,Humans ,Gene ,In Situ Hybridization, Fluorescence ,Polymerase chain reaction ,DNA Primers ,Base Sequence ,Chromosome Mapping ,Sequence Analysis, DNA ,General Medicine ,Molecular biology ,Subcloning ,Genes ,Microsatellite ,Animal Science and Zoology ,Human genome ,Microsatellite Repeats - Abstract
Human primers specific for the genes LEP, HBB, PAX3, ESR2, TPH1, ABCA4 and ATP2A2 were used to identify clones in a canine BAC library. Subcloning of the positive BACs in plasmids, screening with microsatellite motifs and subsequent sequencing allowed for the identification of eight novel microsatellites. The presence of the gene of interest was confirmed by sequencing the polymerase chain reaction (PCR) products amplified in the positive BACs. Fluorescent in situ hybridization (FISH) using the positive BACs as probes allowed for the chromosomal localization of the insert DNAs in two canid species, dog (Canis familiaris) and red fox (Vulpes vulpes). The use of gene-associated microsatellites may accelerate the identification of candidate genes for phenotypic traits in linkage studies.
- Published
- 2004
77. Ectopic position of duplicatedKITgene in African Nguni cattle, associated with color sidedness, confirms its shared ancestry with theBos tauruslineage
- Author
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Magnus Andersson, Terence J. Robinson, Sewellyn C. Davey, Marek Switonski, Assumpta Duran, and Izabela Szczerbal
- Subjects
0301 basic medicine ,Genetics ,030219 obstetrics & reproductive medicine ,Lineage (genetic) ,biology ,Kit gene ,biology.animal_breed ,Genetic Variation ,General Medicine ,Breeding ,Proto-Oncogene Proteins c-kit ,03 medical and health sciences ,Position (obstetrics) ,Nguni cattle ,030104 developmental biology ,0302 clinical medicine ,Genes, Duplicate ,Animals ,Cattle ,Animal Science and Zoology ,Hair Color ,Hair - Published
- 2016
78. Review
- Author
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Izabela Szczerbal, N. Rogalska-Niznik, M. Baer, and Marek Switonski
- Subjects
Genetics ,B chromosome ,biology ,Chromosome ,Robertsonian translocation ,Karyotype ,Gene mutation ,medicine.disease_cause ,Genome ,biology.animal ,parasitic diseases ,medicine ,Arctic fox ,Ploidy ,General Agricultural and Biological Sciences ,geographic locations - Abstract
In the family Canidae a wide range of the diploid chromosome num- bers is observed, from 34 + B in the red fox to 78 in the dog and the wolf. More- over, extensive chromosome polymorphisms were described in some species. In the red fox and raccoon dog a variable number of B chromosomes exist, while in the arctic fox such variability is caused by the widely spread Robertsonian translocation. Also size polymorphism of heterochromatic arms appears in the arctic fox. During the last ten years very rapid progress has been achieved in the mapping of the dog genome and it has facilitated the construction of genome maps of other canids, as well. The application of the comparative chromosome painting approach and the analysis of the chromosome localisation of marker loci have facilitated detailed studies on chromosome rearrangements which occurred during the karyotype evolution. It is foreseen that the extended knowledge on the canine genome organisation will be useful not only in the detection of gene mutations causing hereditary diseases in the dog, but also will facilitate the iden- tification of genes responsible for the great phenotypic and behavioural variability of the dog breeds. Potentially this knowledge may also be useful in fur animal breeding.
- Published
- 2003
79. Two Cases of Infertile Bitches With 78,XX/77,X Mosaic Karyotype: A Need for Cytogenetic Evaluation of Dogs With Reproductive Disorders
- Author
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Marek Switonski, P. Antosik, J. Grewling, Izabela Szczerbal, Wojciech Niżański, and Fengtang Yang
- Subjects
Genetics ,Pathology ,medicine.medical_specialty ,X Chromosome ,Mosaicism ,Karyotype ,Biology ,Aneuploidy ,Giemsa stain ,Dogs ,medicine ,Animals ,Female ,Chromosome painting ,Infertility, Female ,Molecular Biology ,Metaphase ,Purebred ,Genetics (clinical) ,Biotechnology - Abstract
A mosaic karyotype 78,XX/77,X was found in two infertile purebred dogs. Cytogenetic investigations were carried out on a large number of metaphase spreads (220 and 473) with the use of conventional Giemsa staining, C-banding, and chromosome painting approaches. The frequencies of the monosomic spreads (77,X) were low: 5.3% and 5.6%. We recommend that at least 90 metaphase spreads be analyzed to allow possible detection of low-level XX/X mosaicism, and we discuss the need for cytogenetic evaluation of dogs with reproductive disorders.
- Published
- 2003
80. Development of a cytogenetic map for the Chinese raccoon dog (Nyctereutes procyonoides procyonoides) and the arctic fox (Alopex lagopus) genomes, using canine-derived microsatellite probes
- Author
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N. Rogalska-Niznik, J. Schläpfer, Marek Switonski, C. Schelling, Gaudenz Dolf, and Izabela Szczerbal
- Subjects
medicine.medical_specialty ,biology ,Cytogenetics ,Zoology ,Karyotype ,biology.organism_classification ,Genome ,The arctic ,biology.animal ,parasitic diseases ,Genetics ,Cosmid ,medicine ,Lagopus ,Microsatellite ,Arctic fox ,Molecular Biology ,geographic locations ,Genetics (clinical) - Abstract
New chromosomal assignments of canine-derived cosmid clones containing microsatellites to the Chinese raccoon dog and arctic fox genomes are presented in the study. The localizations are in agreement with data obtained from comparative chromosome painting experiments between the dog and arctic fox genomes. However, paracentric inversions have been detected by comparing the loci order in canid karyotypes. The number of physically mapped loci increased to thirty-five both in the Chinese raccoon dog and in the arctic fox. Furthermore, the present status of the cytogenetic map of the Chinese raccoon dog and arctic fox is presented in this study.
- Published
- 2003
81. B chromosomes of the Chinese raccoon dog (Nyctereutes procyonoides procyonoides Gray) contain inactive NOR-like sequences
- Author
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Izabela Szczerbal and Marek Switonski
- Subjects
Fish technique ,Genetics ,B chromosome ,Autosome ,parasitic diseases ,Biology ,General Agricultural and Biological Sciences ,Metaphase ,Nyctereutes procyonoides procyonoides - Abstract
Application of the FISH technique with the human 28S rDNA probe on metaphase spreads of the Chinese raccoon dog confirmed the presence of the NOR sequences on three A autosome pairs and the Y chrom...
- Published
- 2003
82. Testicular disorder of sex development in four cats with a male karyotype (38,XY; SRY-positive)
- Author
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Marek Switonski, Magdalena Lipiec, M. Orzelski, Dorota Różańska, Małgorzata Ochota, Joanna Nowacka-Woszuk, B. Kociucka, Izabela Szczerbal, Wojciech Niżański, S. Salamon, Brygida Slaska, Hanna Jackowiak, Stanisław Dzimira, and Ewelina Prozorowska
- Subjects
Genetics ,Male ,Candidate gene ,Hypospadias ,Karyotype ,Disorders of Sex Development ,Single-nucleotide polymorphism ,Chromosomal translocation ,General Medicine ,Biology ,Y chromosome ,Cat Diseases ,Molecular biology ,Testicular Diseases ,Exon ,Endocrinology ,Testis determining factor ,Food Animals ,Genetic linkage ,Cats ,Animals ,Animal Science and Zoology ,Genes, sry - Abstract
The molecular background of disorders of sex development (DSD) in cats is poorly recognized. In this study we present cytogenetic, molecular and histological analyses of four cats subjected for the analysis due to ambiguous external genitalia. Three cases, with rudimentary penises and an abnormal position of the urethral orifice, represented different types of hypospadias. The fourth case had a normal penis, a blind vulva and spermatogenetically active testes. Histological studies showed structures typical of testes, but spermatogenic activity was observed in two cats only. All the cats had a normal male chromosome complement (38,XY) and the Y-chromosome linked genes ( SRY and ZFY ) were also detected. Fluorescent in situ hybridization (FISH), with the use of the feline BAC probe harboring the SRY gene, excluded the possibility of chromosome translocation of the Y chromosome fragment carrying the SRY gene onto another chromosome. Sequencing of four candidate genes ( SRY —sex determining region Y; AR— androgen receptor; SRD5A2— steroid-5-alfa reductase 2 and MAMLD1— mastermind-like domain containing (1) revealed one SNP in the SRY gene, one common polymorphism in exon 1 of the AR gene (tandem repeat of a tri-nucleotide motif—CAG), six polymorphisms (5 SNPs and 1 indel) in the SRD5A2 gene and one SNP in the MAMLD1 gene. Molecular studies of the candidate genes showed no association with the identified polymorphisms, thus molecular background of the studied DSD phenotypes remains unknown.
- Published
- 2014
83. A lack of association between polymorphisms of three positional candidate genes (CLASP2 , UBP1, and FBXL2) and canine disorder of sexual development (78,XX; SRY -negative)
- Author
-
Sylwia, Salamon, Joanna, Nowacka-Woszuk, Izabela, Szczerbal, Stanisław, Dzimira, Wojciech, Nizanski, Malgorzata, Ochota, and Marek, Switonski
- Subjects
DNA-Binding Proteins ,Male ,Dogs ,Polymorphism, Genetic ,Case-Control Studies ,F-Box Proteins ,Disorders of Sex Development ,Animals ,Female ,Dog Diseases ,Genes, sry ,Microtubule-Associated Proteins ,Genetic Association Studies - Abstract
A disorder of sexual development (DSD) of dogs with a female karyotype, missing SRY gene, and presence of testicles or ovotestes is quite commonly diagnosed. It is suggested that this disorder is caused by an autosomal recessive mutation; however, other models of inheritance have not been definitely ruled out. In an earlier study it was hypothesized that the mutation may reside in a pericentromeric region of canine chromosome 23 (CFA23). Three positional candidate genes (CLASP2, UBP1, and FBXL2) were selected in silico in the search for polymorphisms in 7 testicular or ovotesticular XX DSD dogs, 8 XX DSD dogs of unknown cause (SRY-negative, with enlarged clitoris and unknown histology of gonads), and 29 normal female dogs as a control group. Among the 15 molecularly studied dogs with enlarged clitoris there were 3 new cases of testicular or ovotesticular XX DSD and 4 new cases of XX DSD with unknown cause (histology of the gonads unknown). Altogether, 11 (including 10 novel) polymorphisms in 5'- and 3'-flanking regions of the studied genes were found. The distribution analysis of these polymorphisms showed no association with the DSD phenotypes. Thus, it was concluded that the presence of the causative mutation for testicular or ovotesticular XX DSD in the pericentromeric region of CFA23 is unlikely.
- Published
- 2014
84. A case of leucocyte chimerism (78,XX/78,XY) in a dog with a disorder of sexual development
- Author
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Marek Switonski, Izabela Szczerbal, Wojciech Niżański, Stanisław Dzimira, Małgorzata Ochota, W. Atamaniuk, S. Salamon, and Joanna Nowacka-Woszuk
- Subjects
Pathology ,medicine.medical_specialty ,Somatic cell ,Disorders of Sex Development ,Biology ,Chimerism ,Endocrinology ,Dogs ,Scrotum ,medicine ,Leukocytes ,Polymorphic Microsatellite Marker ,Animals ,Dog Diseases ,Allele ,Chromosome ,Karyotype ,DNA ,medicine.anatomical_structure ,Genetic marker ,Karyotyping ,Immunology ,Cytogenetic Analysis ,Animal Science and Zoology ,Female ,Penis ,Biotechnology ,Microsatellite Repeats - Abstract
A 1-year-old Shih Tzu dog was presented for examination because of abnormal external genitalia. A residual penis with a prepuce was located in a position typical of a male. The dog had no palpable testicles or scrotum. The ultrasound examination revealed the presence of the prostate, but the gonads remained undetectable. Cytogenetic analysis performed on chromosome preparations obtained from lymphocyte culture showed two cell lines - 78,XX and 78,XY. Molecular analysis of 14 polymorphic microsatellite markers allowed us to distinguish leucocyte chimerism from whole body chimerism. The presence of 3 or 4 alleles was confirmed in DNA isolated from blood, while in DNA isolated from hair follicles only 1 or 2 alleles were detected. The case was classified as leucocyte 78,XX/78,XY chimerism. Our study showed that XX/XY leucocyte chimerism might be associated with disorder of sexual development in dogs. Furthermore, it is emphasized that the use of cytogenetic study, in combination with analysis of polymorphic markers in DNA isolated from different somatic cells, facilitates distinguishing between leucocyte and whole body chimerism.
- Published
- 2014
85. Partial urorectal septum malformation sequence in a kitten with disorder of sexual development
- Author
-
Amélie Pain, Patricia Meynaud-Collard, Sylvie Chastant-Maillard, Joanna Nowacka-Woszuk, Izabela Szczerbal, Brice S Reynolds, Marek Switonski, Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Poznan University of Life Sciences, Interactions hôtes-agents pathogènes [Toulouse] (IHAP), Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP)
- Subjects
Male ,Biology ,Cat Diseases ,Rectourethral fistula ,Anus, Imperforate ,Diagnosis, Differential ,Urorectal septum ,Dysgenesis ,medicine ,Animals ,Rectal Fistula ,Abnormalities, Multiple ,Small Animals ,Glans ,[SDV.BDD]Life Sciences [q-bio]/Development Biology ,Urethrostomy ,[SDV.BA]Life Sciences [q-bio]/Animal biology ,[SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology ,Anatomy ,medicine.disease ,medicine.anatomical_structure ,Animals, Newborn ,Hypospadias ,Urogenital Abnormalities ,Cats ,Imperforate anus ,Penis - Abstract
International audience; A 2-month-old kitten exhibited simultaneously an imperforate anus, hypospadias, rectourethral fistula and genital dysgenesis (penis restricted to the glans, absence of prepuce and bifid scrotum). Surgical correction consisted of separation of the urinary and digestive tracts, perineal urethrostomy and connection of the rectum to the newly made anal opening. Pathological examination of the testes, conventionally removed at 9 months of age, showed no mature spermatozoa and underdevelopment of germ and Leydig cells. In humans, the absence of an anal opening in association with abnormal sexual development defines the urorectal septum malformation sequence. Here, we describe the first case of this syndrome in a kitten with a normal male karyotype (38,XY) and a normal coding sequence for the SRY gene. Both the rectourethral fistula and observed genital abnormalities might have been induced by a disturbance in the hedgehog signalling pathway. However, although four polymorphic sites were identified by DHH gene sequencing, none cosegregated with the malformation.
- Published
- 2014
86. A high incidence of adjacent-1 meiotic segregation pattern, revealed by multicolor sperm FISH, in a carrier boar of a new reciprocal translocation t(6;16)(p13;q23)
- Author
-
S. Bugaj, B. Kociucka, Izabela Szczerbal, M. Orsztynowicz, and Marek Switonski
- Subjects
Male ,BOAR ,Swine ,medicine.medical_treatment ,Sus scrofa ,Chromosomal translocation ,Chromosomal rearrangement ,Biology ,Breeding ,Translocation, Genetic ,Chromosome segregation ,Meiosis ,Species Specificity ,Chromosome Segregation ,Genetics ,medicine ,Animals ,Humans ,Abnormalities, Multiple ,Molecular Biology ,Genetics (clinical) ,In Situ Hybridization, Fluorescence ,Infertility, Male ,Insemination, Artificial ,Swine Diseases ,Artificial insemination ,Karyotype ,Sperm ,Chromosomes, Mammalian ,Spermatozoa - Abstract
Reciprocal translocations pose a serious problem in pig breeding due to the reduced fertility of the carriers. This paper presents a new reciprocal translocation in a phenotypically normal, but hypoprolific (20% reduction) boar. Chromosome banding as well as the FISH technique with the use of BAC and telomeric probes was applied for a detailed characterization of this chromosome rearrangement. The karyotype of the studied boar was described as 38,XY,t(6;16)(p13;q23). The meiotic segregation of the quadrivalent was studied in 1,071 sperms by multicolor FISH. The most frequent segregation patterns were alternate (47.5%) and adjacent 1 (41.9%), while adjacent 2 and 3:1 were less frequent at 1.2 and 9.2%, respectively. Surprisingly, the frequency of the adjacent-1 segregation appeared to be relatively high, when compared with human and pig reciprocal translocations studied by sperm FISH. Our study, along with a review of the literature, shows that a reduction of fertility in the carriers and the incidence of different segregation patterns of the quadrivalent may vary within a broad range, and both aspects seem to be unrelated. A need for obligatory karyotype screening programs of artificial insemination boars is emphasized.
- Published
- 2013
87. Ectopic KIT copy number variation underlies impaired migration of primordial germ cells associated with gonadal hypoplasia in cattle (Bos taurus)
- Author
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Magnus Andersson, Hannes Lohi, Marek Switonski, Pekka Uimari, Izabela Szczerbal, Juhani Taponen, Heli Venhoranta, Ruedi Fries, Krzysztof Flisikowski, Reetta L. Hänninen, Michal Wysocki, Hubert Pausch, Departments of Faculty of Veterinary Medicine, Production Animal Medicine, Veterinary Biosciences, Faculty of Veterinary Medicine, Animal Science Research, and Animal Reproduction Science
- Subjects
germ cells ,lcsh:Medicine ,Genome-wide association study ,genetic analysis ,413 Veterinary science ,Generalities, science ,Cell Movement ,single nucleotide polymorphism ,genotypic variation ,Gene duplication ,genetic variability ,genetic polymorphism ,risk factors ,gonads ,Copy-number variation ,10. No inequality ,lcsh:Science ,genes ,gonadal disorders ,genome analysis ,risk ,2. Zero hunger ,Genetics ,0303 health sciences ,Multidisciplinary ,genotypic variability ,pathogenesis ,Chromosome Mapping ,04 agricultural and veterinary sciences ,Gonadal Disorder ,Penetrance ,Hypoplasia ,alleles ,Melanocytes ,Research Article ,endocrine system ,chromosomes ,DNA Copy Number Variations ,education ,Single-nucleotide polymorphism ,Biology ,Polymorphism, Single Nucleotide ,03 medical and health sciences ,genotypes ,medicine ,Animals ,ddc:610 ,Allele ,Medical sciences, medicine ,030304 developmental biology ,hypoplasia ,lcsh:R ,0402 animal and dairy science ,medicine.disease ,040201 dairy & animal science ,Case-Control Studies ,genetic variation ,ddc:000 ,Cattle ,lcsh:Q ,homozygosity ,genomes ,Genome-Wide Association Study - Abstract
mpaired migration of primordial germ cells during embryonic development causes hereditary gonadal hypoplasia in both sexes of Northern Finncattle and Swedish Mountain cattle. The affected gonads exhibit a lack of or, in rare cases, a reduced number of germ cells. Most affected animals present left-sided gonadal hypoplasia. However, right-sided and bilateral cases are also found. This type of gonadal hypoplasia prevails in animals with white coat colour. Previous studies indicated that gonadal hypoplasia is inherited in an autosomal recessive fashion with incomplete penetrance. In order to identify genetic regions underlying gonadal hypoplasia, a genome-wide association study (GWAS) and a copy number variation (CNV) analysis were performed with 94 animals, including 21 affected animals, using bovine 777,962 SNP arrays. The GWAS and CNV results revealed two significantly associated regions on bovine chromosomes (BTA) 29 and 6, respectively (P=2.19 x 10-13 and P=5.65 x 10-6). Subsequent cytogenetic and PCR analyses demonstrated that homozygosity of a ~500 kb chromosomal segment translocated from BTA6 to BTA29 (Cs29 allele) is the underlying genetic mechanism responsible for gonadal hypoplasia. The duplicated segment includes the KIT gene that is known to regulate the migration of germ cells and precursors of melanocytes. This duplication is also one of the two translocations associated with colour sidedness in various cattle breeds. ISSN:1932-6203
- Published
- 2013
88. Three-dimensional positioning of B chromosomes in fibroblast nuclei of the red fox and the chinese raccoon dog
- Author
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J. Sosnowski, B. Kociucka, Piotr Pawlak, Izabela Szczerbal, A. Nowak, and A. Kubiak
- Subjects
Receptor, Platelet-Derived Growth Factor alpha ,Foxes ,Biology ,Genome ,Imaging, Three-Dimensional ,Species Specificity ,Mammalian cell ,Genetics ,medicine ,Animals ,Fibroblast ,Molecular Biology ,Chromosome Positioning ,Interphase ,Genetics (clinical) ,In Situ Hybridization, Fluorescence ,Metaphase ,Skin ,Cell Nucleus ,B chromosome ,Nuclear organization ,Chromosome ,Fibroblasts ,Raccoon Dogs ,Chromosomes, Mammalian ,Proto-Oncogene Proteins c-kit ,medicine.anatomical_structure ,DNA Probes - Abstract
Great progress has been achieved over the last years in studies on chromosome arrangement in mammalian cell nuclei. Growing evidence indicates that the genome's spatial organization is of functional relevance. So far, no attention has been paid to the nuclear organization of B chromosomes (Bs). In this study we have examined nuclear positioning of Bs in 2 species from the Canidae family - the red fox and the Chinese raccoon dog. Using 2D and 3D fluorescence in situ hybridization and 2 gene-specific probes (C-KIT and PDGFRA), we analyzed the location of Bs in fibroblast nuclei. We found that small Bs of the red fox occupied mostly the interior of the nucleus, while medium-sized Bs of the Chinese raccoon dog were observed in the peripheral area of the nucleus as well as in intermediate and interior locations. The more uniform distribution of B chromosomes in the Chinese raccoon dog may be the result of differences in their size, since 3 morphological types of Bs are distinguished in this species. Our results indicate that 3D positioning of B chromosomes in fibroblast nuclei of the 2 canid species is in agreement with the chromosome size-dependent theory.
- Published
- 2012
89. P2015 Fto and Irx3 transcription and methylation profiles in adipose tissues of rats fed with high-fat and high-protein diets
- Author
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J. Nowacka-Woszuk, Izabela Szczerbal, E Pruszynska-Oszmalek, and Maciej Szydlowski
- Subjects
Chemistry ,Transcription (biology) ,High protein ,Genetics ,High fat ,Adipose tissue ,Animal Science and Zoology ,General Medicine ,Methylation ,Food Science ,Cell biology - Published
- 2016
90. Comparative chromosomal localization of the canine-derived BAC clones containing LEP and IGF1 genes in four species of the family Canidae
- Author
-
N. Rogalska-Niznik, Gaudenz Dolf, J. Klukowska, C. Schelling, Izabela Szczerbal, and Marek Switonski
- Subjects
Leptin ,China ,Chromosomes, Artificial, Bacterial ,medicine.medical_specialty ,animal diseases ,Carnivora ,Foxes ,Dogs ,Species Specificity ,Gene mapping ,biology.animal ,parasitic diseases ,Genetics ,medicine ,Animals ,Arctic fox ,Family canidae ,Lymphocytes ,Insulin-Like Growth Factor I ,Molecular Biology ,Gene ,Cells, Cultured ,Genetics (clinical) ,biology ,Cytogenetics ,Chromosome Mapping ,food and beverages ,DNA ,population characteristics ,Chromosome painting ,geographic locations - Abstract
In the present report we show the chromosomal localization of two BAC clones, carrying the leptin (LEP) and insuline-like growth factor 1 (IGF1) genes, respectively, in four species belonging to the family Canidae: the dog, red fox, arctic fox and the Chinese raccoon dog. The assignments are in agreement with earlier data obtained from comparative chromosome painting for the dog, red fox and arctic fox.
- Published
- 2003
91. Three-dimensional arrangement of genes involved in lipid metabolism in nuclei of porcine adipocytes and fibroblasts in relation to their transcription level
- Author
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Izabela Szczerbal, B. Kociucka, and J. Cieslak
- Subjects
Cell type ,Transcription, Genetic ,Swine ,Biology ,Real-Time Polymerase Chain Reaction ,Imaging, Three-Dimensional ,Transcription (biology) ,Gene expression ,Genetics ,medicine ,Transcriptional regulation ,Adipocytes ,Animals ,Humans ,Molecular Biology ,Gene ,Genetics (clinical) ,Cells, Cultured ,In Situ Hybridization, Fluorescence ,DNA Primers ,Cell Nucleus ,Base Sequence ,Chromosome ,Fibroblasts ,Lipid Metabolism ,Cell nucleus ,medicine.anatomical_structure ,Chromosome Territory ,Sterol Regulatory Element Binding Protein 1 ,Stearoyl-CoA Desaturase ,Acetyl-CoA Carboxylase - Abstract
The 3-dimensional arrangement of chromosomes and genes within a nuclear space is considered to represent the level of transcriptional regulation. Understanding how the nuclear architecture of adipocyte cells contributes to gene expression has become the subject of great interest in the context of obesity research. In this study we investigated nuclear positioning of 3 gene loci involved in lipid metabolism in the pig (Sus scrofa, SSC) which is considered as an important animal model for obesity in humans. We found that the position of the SCD gene in the 3-dimensional space of the cell nucleus is not correlated with transcriptional activity. The gene locus as well as chromosome territory SSC14 occupied the same peripheral location in adipocyte and fibroblast cells, in spite of the fact that their transcription level differs significantly between both cell types. For the 2 other investigated genes, i.e. ACACA and SREBF1 and their chromosome territory (SSC12), slightly different nuclear locations were found. They occupied intermediate nuclear positions in fibroblast nuclei, while in adipocytes they were positioned in the nuclear interior. The more internal location of these genes corresponds to increased transcription levels in fat cells. Our results confirm the non-random position of genes and chromosome territories in nuclei of adult porcine cells and indicate that relationship between transcription activity and gene positioning exists only for some but not all genes.
- Published
- 2012
92. Association of adipogenic genes with SC-35 domains during porcine adipogenesis
- Author
-
Joanna M. Bridger and Izabela Szczerbal
- Subjects
Genetics ,Cell Nucleus ,Adipogenesis ,Swine ,Cellular differentiation ,Mesenchymal Stem Cells ,Biology ,Fatty Acid-Binding Proteins ,Genome ,Protein Structure, Tertiary ,PPAR gamma ,Ribonucleoproteins ,RNA splicing ,Gene expression ,Adipocytes ,Animals ,Stem cell ,Sterol Regulatory Element Binding Protein 1 ,Gene ,Interphase ,In Situ Hybridization, Fluorescence ,Genomic organization - Abstract
Spatial organization of the genome within interphase nuclei is non-random. It has been shown that not only whole chromosomes but also individual genes occupy specific nuclear locations and these locations can be changed during different processes like differentiation or disease. Using a porcine in vitro adipogenesis stem cell differentiation system as a model to study nuclear organization, it was demonstrated that nuclear position of selected genes involved in porcine adipogenesis was altered with the up-regulation of gene expression, correlating with these genes becoming more internally located within nuclei, without whole territory relocation. Here, we investigated whether the gene relocation observed during porcine adipogenesis is related to spatial co-association with SC-35 domains. These domains are nuclear speckles enriched in numerous splicing and RNA metabolic factors. Using a DNA immuno-FISH approach we investigated the localisation of three adipogenic genes (PPARG, SREBF1, and FABP4) with SC-35 domains in porcine mesenchymal stem cells and after they were differentiated into adipocytes. We found that the location of these genes relative to SC-35 domains was non-random and correlated with the up-regulation of gene expression. In addition, we observed more frequent clustering of the studied genes located on different chromosomes around the same nuclear speckle in differentiated adipocytes than in mesenchymal stem cells. However, the choice of the domain was more random. This study adds to the evidence that SC-35 domains are hubs of gene activity and gene-domain association may be considered as a common mechanism to enhance gene expression.
- Published
- 2010
93. Comparative genomics of 3 farm canids in relation to the dog
- Author
-
Joanna Nowacka-Woszuk, Marek Switonski, and Izabela Szczerbal
- Subjects
Comparative genomics ,B chromosome ,Polymorphism, Genetic ,biology ,Vulpes ,Zoology ,Genomics ,biology.organism_classification ,Genome ,Chromosome Painting ,Canis ,Dogs ,Genetic marker ,biology.animal ,Karyotyping ,parasitic diseases ,Cytogenetic Analysis ,Genetics ,Animals ,Arctic fox ,Molecular Biology ,Genetics (clinical) ,Canidae ,Microsatellite Repeats - Abstract
There are 3 canids besides the dog (Canis familiaris): the red fox (Vulpes vulpes), arctic fox (Alopex lagopus) and Chinese raccoon dog (Nyctereutes procyonoides procyonoides), which have been extensively studied with the use of cytogenetic and molecular genetics techniques. These 3 species are considered as farm fur-bearing animals. In addition, they are also useful models in comparative genomic studies of the canids. In this review genome organization, karyotype evolution, comparative marker maps, DNA polymorphism and similarity of selected gene sequences of the 3 farm species are discussed in relation to the dog. Also the nature and variability of the B chromosomes, present in the red fox and the Chinese raccoon dog, were considered. These comparative analyses showed that among the studied canids the Chinese raccoon dog is phylogenetically the closest species to the dog. On the other hand, the most advanced linkage and cytogenetic marker maps of the red fox genome facilitate genome scanning studies with the aim to search for chromosome locations of QTL regions for behavior and production traits.
- Published
- 2009
94. A comparison of coding sequence and cytogenetic localization of the myostatin gene in the dog, red fox, arctic fox and Chinese raccoon dog
- Author
-
J. Gracz, Marek Switonski, Izabela Szczerbal, M. Grzes, Joanna Nowacka-Woszuk, and J. Czerwinska
- Subjects
medicine.medical_specialty ,Myostatin Gene ,Myostatin ,Species Specificity ,Phylogenetics ,biology.animal ,Genetics ,medicine ,Coding region ,Animals ,Arctic fox ,Molecular Biology ,Gene ,Genetics (clinical) ,In Situ Hybridization, Fluorescence ,Phylogeny ,Canidae ,DNA Primers ,biology ,Phylogenetic tree ,Base Sequence ,Cytogenetics ,musculoskeletal system ,Cytogenetic Analysis ,biology.protein - Abstract
The gene encoding myostatin (MSTN), due to its crucial function for growth of skeletal muscle mass, is an important candidate for muscularity. In this study we analyzed the nucleotide sequence and FISH localization of this gene in 4 canids, including 3 farm species. The nucleotide sequence of the MSTN coding fragment turned out to be highly conserved, since its identity among the studied species was very high and varied between 99.4 and 99.7%. Only 1, widely spread, silent single nucleotide polymorphism (SNP) was found in exon 1 of the Chinese raccoon dog. The MSTN gene was localized close to the centromere in one-armed chromosomes of the dog (37q11) and bi-armed chromosomes of the red fox (16p11) and arctic fox (10q11), with an exception of the Chinese raccoon dog chromosome (2q14–q21). This chromosome is orthologous to 3 canine chromosomes and thus the MSTN was found more interstitially. Our results are in agreement with the hypothesis that karyotypes of the canids evolved mainly through centric fusion/fission events, while tandem fusions occurred rarely.
- Published
- 2009
95. The spatial repositioning of adipogenesis genes is correlated with their expression status in a porcine mesenchymal stem cell adipogenesis model system
- Author
-
Helen A. Foster, Izabela Szczerbal, and Joanna M. Bridger
- Subjects
Genetics ,Adipogenesis ,Swine ,Cellular differentiation ,Gene Expression ,Cell Differentiation ,Mesenchymal Stem Cells ,Biology ,Chromatin Assembly and Disassembly ,Genome ,Chromatin remodeling ,Chromatin ,GATA2 Transcription Factor ,PPAR gamma ,Genes ,Gene expression ,CCAAT-Enhancer-Binding Proteins ,Animals ,Sterol Regulatory Element Binding Protein 1 ,Gene ,Developmental biology ,Genetics (clinical) - Abstract
Alterations in the nuclear positioning of chromosomes and specific genes during differentiation and development have suggested strongly the existence of a relationship between non-random organization of the genome and its function. In this study, we have examined the genome organization in interphase nuclei during adipogenesis, using the pig as a model organism. We hypothesized that changes in the gene expression profile and chromatin remodeling which occur during cellular differentiation would elicit repositioning of whole chromosomes, moving specific genes on them to different regions of the nucleus. We established an in vitro adipogenesis differentiation system using mesenchymal stem cells, derived from porcine bone marrow. The nuclear position of seven adipogenesis genes (PPARG, SREBF1, FABP4, CEBPA, CEBPB, CREB, and GATA2), two control genes (SOX9 and MYL1), and six chromosomes carrying these gene loci (SSC4, SSC6, SSC12, SSC13, SSC15, and SSC17) was determined. We found that during adipogenesis, using the in vitro stem cell model system, in contrast to our original hypothesis, the nuclear position of genes involved in adipogenesis was altered radically with the up-regulation of gene expression correlating with these genes becoming more internally located within nuclei. Chromosome territories, containing these genes, were also found to alter their nuclear position during the in vitro adipogenesis model, with the most dramatic repositioning being SSC4 that moved from the nuclear periphery towards the nuclear interior. We found that during in vitro adipogenesis chromosome territories decondensed and the genes were found on loops and projections of chromatin, away from the main body of the chromosomes. From our data, it appears that the temporal repositioning of genes, emanating away from chromosomes, during adipogenesis is correlated with gene activity, supporting models of the involvement of spatial genome repositioning in regulating gene expression and the nuclear interior being an important region of the nucleus for transcription.
- Published
- 2009
96. Compound mosaicism, caused by B chromosome variability, in the Chinese raccoon dog (Nyctereutes procyonoides procyonoides)
- Author
-
Marek Switonski, Monika Kaczmarek, and Izabela Szczerbal
- Subjects
Genetics ,B chromosome ,Mosaicism ,Chromosome Mapping ,Karyotype ,General Medicine ,Raccoon Dogs ,Biology ,General Biochemistry, Genetics and Molecular Biology ,Nyctereutes procyonoides procyonoides ,C banding ,Giemsa stain ,Chromosomes ,Karyotyping ,Animals - Abstract
The distribution of B chromosomes in a group of twenty-six farm Chinese raccoon dogs was analysed using Giemsa staining and sequentional Q/C banding techniques. It was shown that three different types of B chromosomes are widely distributed among the studied animals. The variability of the B chromosome number was limited (0-4) and two B chromosomes occurred with the highest frequency. Mosaic karyotypes appeared to be very common in this species. Only two animals had a stable karyotype in terms of the B chromosome number. The mosaicism of the B chromosomes had a compound character, since karyotypes of the studied raccoon dogs differed in terms of the number of Bs as well as the presence of the three morphological types of the Bs.
- Published
- 2008
97. Comparing the Human and Canine Genomes
- Author
-
Izabela Szczerbal and Marek Switonski
- Subjects
Genetics ,Gene mapping ,business.industry ,Hereditary Diseases ,Karyotype ,Genome project ,Biology ,business ,Phenotype ,Genome ,Biomedicine ,Reference genome - Abstract
The dog is a unique species due to its phenotypic variability, exceptional among mammals. From the point of view of comparative biomedicine it needs to be emphasized that in numerous breeds specific hereditary diseases occur with high prevalence and many of them have molecular and clinical counterparts in humans. Thus, the dog is a very useful model to study human hereditary diseases and their therapy, including gene therapy. Knowledge on the human and dog genomes is very advanced. Both genomes were sequenced, their high-density marker genome maps are available and evolutionary conserved segments (CSs) were identified by comparative chromosome painting, marker genome mapping and sequencing. Keywords: karyotype; genome map and sequence; DNA polymorphism; hereditary diseases; gene therapy
- Published
- 2008
98. Chromosomal localization of nine porcine genes encoding transcription factors involved in adipogenesis
- Author
-
Agata Chmurzynska and Izabela Szczerbal
- Subjects
Genetics ,Candidate gene ,Chromosomes, Artificial, Bacterial ,Adipogenesis ,Base Sequence ,Swine ,Biology ,Phenotype ,Genome ,GATA2 Transcription Factor ,PPAR gamma ,Cytogenetics ,CEBPA ,CEBPB ,CCAAT-Enhancer-Binding Proteins ,Animals ,Molecular Biology ,Gene ,Transcription factor ,Genetics (clinical) ,In Situ Hybridization, Fluorescence ,DNA Primers ,Transcription Factors - Abstract
Chromosomal localization of nine porcine genes encoding transcription factors involved in adipogenesis was determined. BAC clones harboring sequences of selected genes CEBPA (SSC6q12), CEBPB (SSC17q23), CEBPD (SSC4q15), CEBPG (SSC6q12), PPARG (SSC13q24), SREBF1 (SSC10q17), DDIT3 (SSC12q15), GATA2 (SSC13q24 →q31) and GATA3 (SSC5p12) were mapped by FISH. The positions of these genes in the human and pig genomes were compared. A potential role of the genes encoding adipogenesis factors as candidate genes for fatness traits as well as obesity-related phenotypes is discussed.
- Published
- 2008
99. FISH mapping of 10 canine BAC clones harbouring genes and microsatellites in the arctic fox and the Chinese raccoon dog genomes
- Author
-
Marek Switonski, Jolanta Klukowska-Roetzler, C. Schelling, Gaudenz Dolf, and Izabela Szczerbal
- Subjects
Chromosomes, Artificial, Bacterial ,Foxes ,Biology ,Genome ,Dogs ,Food Animals ,biology.animal ,parasitic diseases ,medicine ,Animals ,Arctic fox ,TECTA ,Gene ,In Situ Hybridization, Fluorescence ,Gene Library ,Genetics ,Bacterial artificial chromosome ,medicine.diagnostic_test ,Chromosome Mapping ,Karyotype ,General Medicine ,Raccoon Dogs ,Karyotyping ,Microsatellite ,Animal Science and Zoology ,geographic locations ,Fluorescence in situ hybridization ,Microsatellite Repeats - Abstract
Cytogenetic mapping of the arctic fox and the Chinese raccoon dog were performed using a set of canine probes derived from the Bacterial Artificial Chromosome (BAC) library. Altogether, 10 BAC clones containing sequences of selected genes (PAX3, HBB, ATP2A2, TECTA, PIT1, ABCA4, ESR2, TPH1, HTR2A, MAOA) and microsatellites were mapped by fluorescence in situ hybridization (FISH) experiments to chromosomes of the canids studied. At present, the cytogenetic map on the arctic fox and Chinese raccoon dog consists of 45 loci each. Chromosomal localization of the BAC clones was in agreement with data obtained by earlier independent comparative chromosome painting. However, two events of telomere-to-centromere inversions were tentatively identified while compared with assignments in the dog karyotype.
- Published
- 2006
100. Mapping and development of four microsatellite markers for the canine 5'-hydroxytryptamine serotonin receptor 2A (HTR2A)
- Author
-
Izabela Szczerbal, Martin H. Braunschweig, C. Schelling, Marek Switonski, Gaudenz Dolf, and Jolanta Klukowska-Rötzler
- Subjects
Chromosomes, Artificial, Bacterial ,Polymorphism, Genetic ,Base Sequence ,Molecular Sequence Data ,Chromosome Mapping ,General Medicine ,Sequence Analysis, DNA ,Biology ,5 hydroxytryptamine serotonin ,Molecular biology ,Dogs ,Genetics ,Microsatellite ,Animals ,Animal Science and Zoology ,Cloning, Molecular ,Receptor ,Receptors, Serotonin, 5-HT2 ,In Situ Hybridization, Fluorescence ,DNA Primers ,Microsatellite Repeats - Published
- 2005
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