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11 results on '"Foubert C"'

6. Assignment of the genes for human lysosomal acid lipases A and B to chromosomes 10 and 16.

Author

Cong, Nguyen, Weil, D., Hors-Cayla, M., Gross, M., Heuertz, S., Foubert, C., and Frezal, J.

Abstract

Twenty-three independent man-hamster (CH/HGPRT-) hybrids were analysed for human acid lipases and for some other human enzyme markers (PP, GOT 1, PGP) and chromosomes. Eighteen independent man-mouse (LA/HGPRT-TK) hybrids were analysed for human acid lipases, human enzyme marker PGP and human chromosomes. Three fibroblasts from unrelated patients with WD (Wolman's disease), one fibroblast from a heterozygote for WD, and 15 normal fibroblasts were analysed for acid lipases. The following results were obtained: [ABSTRACT FROM AUTHOR]

Published
1980
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7. Assignment of human platelet GP2B (GPIIb) gene to chromosome 17, region q21.1-q21.3

Author

Cong, Nguyen van, Uzan, G., Gross, M. S., Jegou-Foubert, C., Frachet, P., Boucheix, C., Marguerie, G., and Frézal, J.

Abstract

The platelet GPIIb-IIIa complex functions as a receptor for fibrinogen, fibronectin, and von Willebrand factor on activated platelets. This glycoprotein is a member of a broadly distributed family of structurally and immunologically related membrane receptors involved in cell-cell contact and cell-matrices interactions. GPIIb-IIIa is a heterodimer complex composed of GPIIb (the a subunit), which consists of two disulfide-linked heavy and light chains, and GPIIIa (the ß subunit), which is a single polypeptide chain. Congenital absence of platelet GPIIb-IIIa in Glanzmann's thrombasthenia results in a severe bleeding disorder characterized by defective platelet aggregation and failure of fibrinogen to bind to platelets. The gene coding for GPIIb was located on 17q21.1-17q21.3 as determined by in situ hybridization with a 2650-pb GP2B (GPIIb) cDNA probe prepared from human megakaryocytes.

Published
1988
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8. Assignment of the complement serine protease genes C1r and C1s to chromosome 12 region 12p13

Author

Cong, Nguyen Van, Tosi, M., Gross, M. S., Cohen-Haguenauer, O., Jegou-Foubert, C., Tand, M. F., Meo, T., and Frézal, J.

Abstract

C1r and C1s are distinct, but structurally and functionally similar, serine protease zymogens responsible for the enzymatic activity of the first component of complement (C1). Recent comparisons indicate a significant degree of sequence similarity between C1r and C1s and support the hypothesis that they are related by gene duplication. Complementary DNA probes for human C1r and C1s do not cross-hybridize even at mild stringency conditions and are therefore genespecific. Using a panel of 25 human-rodent cell hybrids, we have independently assigned the C1r and the C1s genes to chromosome 12. In situ hybridization analyses were consistent with these assignments, showing in addition that both C1r and C1s are located on the short arm of the chromosome in the region p13. These data suggest that the homologous C1r and C1s genes have remained closely linked after duplication of a common ancestor. The C1r and C1s loci also provide useful polymorphic DNA markers for the short arm of chromosome 12.

Published
1988
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9. Assignment of the human coproporphyrinogen oxidase to chromosome 9.

Author

Grandchamp B, Weil D, Nordmann Y, Van Cong N, de Verneuil H, Foubert C, and Gross MS

Subjects
Animals, Coproporphyrinogen Oxidase analysis, Cricetinae, Cricetulus, Fibroblasts enzymology, Humans, Hybrid Cells enzymology, Isoelectric Focusing, Mice, Chromosomes, Human, 6-12 and X, Coproporphyrinogen Oxidase genetics, Oxidoreductases genetics
Abstract

By using somatic cell hybrids between human fibroblasts and hamster or mouse cells, we have assigned the gene for human coproporphyrinogen oxidase to chromosome 9.

Published
1983
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10. Assignment of the human fast skeletal muscle myosin alkali light chains gene (MLC1F/MLC3F) to 2q 32.1-2qter.

Author

Cohen-Haguenauer O, Barton PJ, Nguyen VC, Serero S, Gross MS, Jegou-Foubert C, de Tand MF, Robert B, Buckingham M, and Frézal J

Subjects
Animals, Chromosome Banding, Cricetinae, DNA genetics, Genetic Markers, Humans, Hybrid Cells, Mice, Myosin Subfragments, Pseudogenes, Chromosome Mapping, Chromosomes, Human, Pair 2, Muscles analysis, Myosins genetics, Peptide Fragments genetics
Abstract

A DNA probe derived from a mouse intronless pseudogene including coding regions for the myosin fast skeletal muscle alkali light chains, MLC1F/MLC3F (suggested HGM symbol, MYL1), was tested on a panel of 25 independent man-rodent somatic cell hybrids in order to assign the human MLC1F/MLC3F gene to a human chromosome. A 3.7-kb TaqI human fragment was found to correlate with the presence of chromosome 2 in the hybrids, characterized both by cytogenetic analysis and reference enzyme markers. A regional assignment to 2q32.1-qter was possible using hybrids whose human parental strains bore a reciprocal translocation t(X;2) (p22;q32.1). The fact that IDH1 and the MLC1F/MLC3F gene are closely linked on chromosome 1 in the mouse and map to the same region of human chromosome 2 in man indicates, that these chromosomes have a conserved region of homology between them and that the human 3.7-kb TaqI fragment corresponds indeed to a functional gene.

Published
1988
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11. Assignment of the gene for uroporphyrinogen decarboxylase to human chromosome 1 by somatic cell hybridization and specific enzyme immunoassay.

Author

de Verneuil H, Grandchamp B, Foubert C, Weil D, N'Guyen VC, Gross MS, Sassa S, and Nordmann Y

Subjects
Animals, Cricetinae, Cricetulus, Fibroblasts enzymology, Fibroblasts ultrastructure, Humans, Hybrid Cells, Immunoenzyme Techniques, Mice, Uroporphyrinogen Decarboxylase analysis, Carboxy-Lyases genetics, Chromosome Mapping, Chromosomes, Human, 1-3, Uroporphyrinogen Decarboxylase genetics
Abstract

A specific enzyme immunoassay of uroporphyrinogen decarboxylase was developed and applied to the detection of the human enzyme in man-rodent somatic cell hybrids. This method allowed to assign the gene for uroporphyrinogen decarboxylase to human chromosome 1.

Published
1984
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