Karasawa M, Zwacka R M, Reuter A, Fink T, Hsieh C L, Lichter P, Francke U, Weiher H
Kernforschungszentrum Karlsruhe, Institute of Genetics, Germany.
Hum Mol Genet. 1993 Nov;2(11):1829-34. doi: 10.1093/hmg/2.11.1829.
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.
在Mpv17基因的两个等位基因中都携带逆转录病毒插入片段的小鼠在年轻时会发展为肾小球硬化和肾病综合征。因此，Mpv17基因在小鼠中是一个隐性疾病基因，并且这种小鼠品系是人类肾小球疾病的潜在动物模型。我们在此描述该基因的人类同源物的分离与分析。通过种间杂交，从人肝脏中分离出代表单一RNA种类的cDNA克隆。序列分析显示，在编码176个氨基酸且功能未知的蛋白质的区域中，两种物种的序列一致性超过90%。基因组位点的克隆揭示了一个单拷贝基因，我们将其定位到2号染色体短臂的2p23-p21带。对内含子-外显子结构和连接序列的测定使我们能够建立一种基于PCR的方法，从人类基因组DNA中分离编码区。因此，如果没有活检材料，现在就有可能根据血样对患有候选疾病的患者进行分析。
