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The human homolog of the glomerulosclerosis gene Mpv17: Structure and genomic organization

Karasawa, M and Zwacka, RM and Reuter, A and Fink, T and Hsieh, CL and Lichter, P and Francke, U and Welher, H (1993) 'The human homolog of the glomerulosclerosis gene Mpv17: Structure and genomic organization.' Human Molecular Genetics, 2 (11). 1829 - 1834. ISSN 0964-6906

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Mice carrying a retroviral Insert in both alleles of the Mpv17 gene develop glomerulosclerosis and nephrotlc syndrome at young age. Thus, the Mpv17 gene is a recessive disease gene in mice and this mouse strain is a potential animal model for glomerular diseases in man. We here describe the isolation and analysis of a human homolog of this gene. By interspecies hybridisation cDNA clones representing a single RNA species were isolated from human liver. Sequence analysis revealed over 90% identity in a region coding for a protein of 176 amino acids and unknown function in both species. Cloning of the genomic locus revealed a single copy gene which we mapped to the short arm of chromosome 2 at band 2p23-p21. Determination of the intron - exon structure and the junction sequences enabled us to establish a PCR based procedure to isolate the coding region from human genomic DNA. Thus, it is now possible to analyse patients suffering from candidate diseases on the basis of a blood sample if biopsy material is not available. © 1993 Oxford University Press.

Item Type: Article
Subjects: Q Science > QH Natural history > QH426 Genetics
Divisions: Faculty of Science and Health > Life Sciences, School of
Depositing User: Jim Jamieson
Date Deposited: 12 Nov 2013 16:47
Last Modified: 28 Aug 2019 10:15

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