Candidate Gene Associated with a Mutation Causing Recessive Polycystic Kidney Disease in Mice

• Published in: Science (American Association for the Advancement of Science) Vol. 264; no. 5163; pp. 1329 - 1333
• Main Authors: Moyer, Judith H., Lee-Tischler, Monica J., Heajoon-Y. Kwon, Schrick, Jeffrey J., Avner, Ellis D., Sweeney, William E., Godfrey, Virginia L., Nestor L. A. Cacheiro, Wilkinson, J. Erby, Woychik, Richard P.
• Format: Journal Article
• Language: English
• Published: Washington, DC American Society for the Advancement of Science 27.05.1994; American Association for the Advancement of Science
• Subjects: 550400 - Genetics; Amino Acid Sequence; Animals; BASIC BIOLOGICAL SCIENCES; Biological and medical sciences; BODY; Caenorhabditis elegans Proteins; Chromosomes; CLONING; Crosses, Genetic; DETECTION; DISEASES; DNA HYBRIDIZATION; DNA-CLONING; Female; GENE MUTATIONS; Genes; Genetic aspects; Genetic loci; Genetic mutation; Homozygote; HYBRIDIZATION; Kidney Tubules - pathology; KIDNEYS; Lesions; Liver; Liver - pathology; Male; Medical sciences; Mice; Mice, Inbred C3H; Mice, Transgenic; Molecular Sequence Data; Mutagenesis, Insertional; MUTATIONS; Nephrology. Urinary tract diseases; Nerve Tissue Proteins; ORGANS; Phenotype; Phenotypes; Polycystic kidney disease; Polycystic kidney diseases; Polycystic Kidney, Autosomal Recessive - genetics; Polycystic Kidney, Autosomal Recessive - pathology; Proteins - chemistry; Proteins - genetics; Transgenes; Tumor Suppressor Proteins; Tumors of the urinary system; Urinary system disease; Genetic inheritance; Polycystic kidney; Rodentia; Renal disease; Genetic disease; Vertebrata; Experimental disease; Mammalia; Mouse; Animal; Cyst; Benign neoplasm; Mutation
• ISSN: 0036-8075; 1095-9203
• DOI: 10.1126/science.8191288

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.