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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). pp. 1829-1834. ISSN 0964-6906

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Abstract

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
Uncontrolled Keywords: Hybrid Cells; Chromosomes, Human, Pair 2; Animals; Humans; Mice; Mice, Mutant Strains; Retroviridae; Glomerulonephritis; Nephrotic Syndrome; Disease Models, Animal; DNA Transposable Elements; DNA Primers; Chromosome Mapping; Cloning, Molecular; Base Sequence; Sequence Homology, Nucleic Acid; Genes, Recessive; Introns; Exons; Molecular Sequence Data
Subjects: Q Science > QH Natural history > QH426 Genetics
Divisions: Faculty of Science and Health
Faculty of Science and Health > Life Sciences, School of
SWORD Depositor: Elements
Depositing User: Elements
Date Deposited: 12 Nov 2013 16:47
Last Modified: 15 Jan 2022 00:34
URI: http://repository.essex.ac.uk/id/eprint/8361

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