Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice. Science 1994 May 27;264(5163):1329-33
Date
05/27/1994Pubmed ID
8191288DOI
10.1126/science.8191288Scopus ID
2-s2.0-0028322016 (requires institutional sign-in at Scopus site) 320 CitationsAbstract
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.
Author List
Moyer JH, Lee-Tischler MJ, Kwon HY, Schrick JJ, Avner ED, Sweeney WE, Godfrey VL, Cacheiro NL, Wilkinson JE, Woychik RPAuthor
Ellis D. Avner MD Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Amino Acid SequenceAnimals
Caenorhabditis elegans Proteins
Crosses, Genetic
Female
Homozygote
Kidney Tubules
Liver
Male
Mice
Mice, Inbred C3H
Mice, Transgenic
Molecular Sequence Data
Mutagenesis, Insertional
Nerve Tissue Proteins
Phenotype
Polycystic Kidney, Autosomal Recessive
Proteins
Tumor Suppressor Proteins
