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Science 27 May 1994:
Vol. 264. no. 5163, pp. 1329 - 1333
DOI: 10.1126/science.8191288
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Articles

Science, Vol 264, Issue 5163, 1329-1333
Copyright © 1994 by American Association for the Advancement of Science

articles

Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice

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

University of Tennessee Graduate School of Biomedical Sciences, Biology Division, Oak Ridge National Laboratory, TN 37831-8077.

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.


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   Abstract »    Full Text »    PDF »
The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance.
G. J. Pazour, S. A. Baker, J. A. Deane, D. G. Cole, B. L. Dickert, J. L. Rosenbaum, G. B. Witman, and J. C. Besharse (2002)
J. Cell Biol. 157, 103-114
   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »


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