| First Author | Karasawa M | Year | 1993 |
| Journal | Hum Mol Genet | Volume | 2 |
| Issue | 11 | Pages | 1829-34 |
| PubMed ID | 8281143 | Mgi Jnum | J:15631 |
| Mgi Id | MGI:63748 | Doi | 10.1093/hmg/2.11.1829 |
| Citation | Karasawa M, et al. (1993) The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization. Hum Mol Genet 2(11):1829-34 |
| abstractText | 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. |
