J. Schenkel et al., FUNCTIONAL RESCUE OF THE GLOMERULOSCLEROSIS PHENOTYPE IN MPV17 MICE BY TRANSGENESIS WITH THE HUMAN MPV17 HOMOLOG, Kidney international, 48(1), 1995, pp. 80-84
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 phenoty
pe 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 th
e phenotype of Mpv17 deficient mice when introduced by transgenesis. T
his provides formal proof for the hypothesis that the phenotype is cau
sed by the loss of function of the Mpv17 gene. It also provides eviden
ce for the functional conservation of the Mpv17 gene in mammals and po
ints to a potential role of this gene in human kidney disease.