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Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice. Science 1994 May 27;264(5163):1329-33

Date

05/27/1994

Pubmed ID

8191288

DOI

10.1126/science.8191288

Scopus ID

2-s2.0-0028322016   301 Citations

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.

Author List

Moyer JH, Lee-Tischler MJ, Kwon HY, Schrick JJ, Avner ED, Sweeney WE, Godfrey VL, Cacheiro NL, Wilkinson JE, Woychik RP

Authors

Ellis D. Avner MD Professor in the Pediatrics department at Medical College of Wisconsin
William E. Sweeney Jr MS Assistant Professor in the Pediatrics department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Amino Acid Sequence
Animals
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