© 1993 Oxford University Press
RESEARCH-ARTICLE |
The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization
Kernforschungszentrum Kartsruhe, Institute of Genetics 76021 Karisruhe 1 1Deutsches Krebsforschungszentrum, Abt Organisation Komplexer genome Angewandte Tumor Virofoge, 69120 Hedelberg, Germany 2Howard Hughes Medical Institute and Department of Genetics, Stanford University Medical Center CA 94305-5428, USA
*To whom correspondence should be addressed
Received July 22, 1993; Revised September 20, 1993; Accepted September 20, 1993
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.