Insertional mutagenesis and molecular analysis of a new gene associated with polycystic kidney disease. Proc Assoc Am Physicians 1995 Oct;107(3):314-23
Date
10/01/1995Pubmed ID
8608416Scopus ID
2-s2.0-0029383640 (requires institutional sign-in at Scopus site) 67 CitationsAbstract
We have identified a new insertional mutation in the mouse (TgN737Rpw) that causes a phenotype that closely resembles human autosomal recessive polycystic kidney disease. The renal pathology in these mutants first presents itself as a dilation of the proximal tubules, which is quickly followed by the development of cystic lesions in the collecting ducts. The livers in the mutant animals develop a variable lesion depending upon the genetic background. We have cloned the mutant locus and have isolated and characterized a gene, Tg737, whose expression is disrupted in the mutant animals. Expression of the Tg737 gene can normally be detected using the Northern blot analysis at low levels in a variety of tissues, including the kidney and liver. Using the in situ hybridization procedure, expression of the Tg737 mRNA can be detected in the collecting ducts of adult kidneys and in portions of the embryonic day 15.5 kidney. Most important, we have corrected the defective kidney trait by expressing the wild-type cDNA as a transgene in the mutant animals. The human homologue of the Tg737 gene has also been cloned and mapped to human chromosome 13.
Author List
Yoder BK, Richards WG, Sweeney WE, Wilkinson JE, Avener ED, Woychik RPMESH terms used to index this publication - Major topics in bold
AnimalsChromosomes, Human, Pair 13
Cloning, Molecular
Humans
In Situ Hybridization
Kidney
Liver
Mice
Mice, Mutant Strains
Mice, Transgenic
Mutagenesis, Insertional
Polycystic Kidney, Autosomal Recessive
Proteins
Tumor Suppressor Proteins
