title: The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization.
abstract: Mice carrying a retroviral insert in both alleles of the Mpv17 gene develop glomerulosclerosis and nephrotic 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% identify 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.
authors.affiliation: Kernforschungszentrum Karlsruhe, Institute of Genetics, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Karasawa
authors.forename: R M
authors.initials: RM
authors.lastname: Zwacka
authors.forename: A
authors.initials: A
authors.lastname: Reuter
authors.forename: T
authors.initials: T
authors.lastname: Fink
authors.forename: C L
authors.initials: CL
authors.lastname: Hsieh
authors.forename: P
authors.initials: P
authors.lastname: Lichter
authors.forename: U
authors.initials: U
authors.lastname: Francke
authors.forename: H
authors.initials: H
authors.lastname: Weiher
mesh_terms: D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D003001:Cloning, Molecular; D017931:DNA Primers; D004251:DNA Transposable Elements; D004195:Disease Models, Animal; D005091:Exons; D005808:Genes, Recessive; D005921:Glomerulonephritis / Q000235:genetics*; D006801:Humans; D006822:Hybrid Cells; D007438:Introns; D051379:Mice; D008817:Mice, Mutant Strains / Q000235:genetics*; D008969:Molecular Sequence Data; D009404:Nephrotic Syndrome / Q000235:genetics*; D012190:Retroviridae / Q000235:genetics; D012689:Sequence Homology, Nucleic Acid
chemical_list: D017931:DNA Primers; D004251:DNA Transposable Elements