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Functional rescue of the glomerulosclerosis phenotype in Mpv17 mice by transgenesis with the human Mpv17 homologue

Schenkel, Johannes and Zwacka, Ralf Michael and Rutenberg, Christiane and Reuter, Alexander and Waldherr, Rüdiger and Weiher, Hans (1995) 'Functional rescue of the glomerulosclerosis phenotype in Mpv17 mice by transgenesis with the human Mpv17 homologue.' Kidney International, 48 (1). pp. 80-84. ISSN 0085-2538

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Abstract

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.

Item Type: Article
Uncontrolled Keywords: Animals; Mice, Transgenic; Humans; Mice; Glomerulonephritis; Disease Models, Animal; RNA-Directed DNA Polymerase; Cloning, Molecular; Polymerase Chain Reaction; Gene Expression; Base Sequence; Sequence Homology, Nucleic Acid; Phenotype; Genetic Vectors; Plasmids; Molecular Sequence Data
Subjects: R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer)
Divisions: Faculty of Science and Health
Faculty of Science and Health > Life Sciences, School of
SWORD Depositor: Elements
Depositing User: Elements
Date Deposited: 04 Jul 2017 11:29
Last Modified: 15 Jan 2022 00:34
URI: http://repository.essex.ac.uk/id/eprint/8359

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