Schenkel J, Zwacka R M, Rutenberg C, Reuter A, Waldherr R, Weiher H
Forschungszentrum Karlsruhe, Institute of Genetics, Germany.
Kidney Int. 1995 Jul;48(1):80-4. doi: 10.1038/ki.1995.270.
The germ line insertion of a defective retrovirus into the Mpv17 gene of mice is associated with a recessive phenotype. Mice homozygous for the integration develop glomerulosclerosis at a young age. The phenotype resembles human glomerulosclerosis in its physiological parameters as well as in histology. A human homologue of the Mpv17 gene has been identified, isolated and analyzed. We here show that this gene, which has a role in the production of reactive oxygen species, can rescue the phenotype of Mpv17 deficient mice when introduced by transgenesis. This provides formal proof for the hypothesis that the phenotype is caused by the loss of function of the Mpv17 gene. It also provides evidence for the functional conservation of the Mpv17 gene in mammals and points to a potential role of this gene in human kidney disease.
一种缺陷型逆转录病毒在小鼠Mpv17基因中的种系插入与隐性表型相关。整合纯合子的小鼠在年轻时会发生肾小球硬化。该表型在生理参数和组织学上类似于人类肾小球硬化。已鉴定、分离并分析了Mpv17基因的人类同源物。我们在此表明，这个在活性氧产生中起作用的基因，通过转基因导入时可以挽救Mpv17缺陷小鼠的表型。这为该表型是由Mpv17基因功能丧失引起的这一假说提供了正式证据。它还为Mpv17基因在哺乳动物中的功能保守性提供了证据，并指出该基因在人类肾脏疾病中的潜在作用。
