title: Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice.
abstract: A line of transgenic mice was generated that contains an insertional mutation causing a phenotype similar to human autosomal recessive polycystic kidney disease. Homozygotes displayed a complex phenotype that included bilateral polycystic kidneys and an unusual liver lesion. The mutant locus was cloned and characterized through use of the transgene as a molecular marker. Additionally, a candidate polycystic kidney disease (PKD) gene was identified whose structure and expression are directly associated with the mutant locus. A complementary DNA derived from this gene predicted a peptide containing a motif that was originally identified in several genes involved in cell cycle control.
authors.affiliation: University of Tennessee Graduate School of Biomedical Sciences, Biology Division, Oak Ridge National Laboratory, TN 37831-8077.
authors.forename: J H
authors.initials: JH
authors.lastname: Moyer
authors.forename: M J
authors.initials: MJ
authors.lastname: Lee-Tischler
authors.forename: H Y
authors.initials: HY
authors.lastname: Kwon
authors.forename: J J
authors.initials: JJ
authors.lastname: Schrick
authors.forename: E D
authors.initials: ED
authors.lastname: Avner
authors.forename: W E
authors.initials: WE
authors.lastname: Sweeney
authors.forename: V L
authors.initials: VL
authors.lastname: Godfrey
authors.forename: N L
authors.initials: NL
authors.lastname: Cacheiro
authors.forename: J E
authors.initials: JE
authors.lastname: Wilkinson
authors.forename: R P
authors.initials: RP
authors.lastname: Woychik
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D029742:Caenorhabditis elegans Proteins; D003433:Crosses, Genetic; D005260:Female; D006720:Homozygote; D007684:Kidney Tubules / Q000473:pathology; D008099:Liver / Q000473:pathology; D008297:Male; D051379:Mice; D008809:Mice, Inbred C3H; D008822:Mice, Transgenic; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D009419:Nerve Tissue Proteins; D010641:Phenotype; D017044:Polycystic Kidney, Autosomal Recessive / Q000235:genetics* / Q000473:pathology; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D025521:Tumor Suppressor Proteins
chemical_list: D029742:Caenorhabditis elegans Proteins; D009419:Nerve Tissue Proteins; D011506:Proteins; C490898:Tg737Rpw protein, mouse; D025521:Tumor Suppressor Proteins; C427364:osm-5 protein, C elegans