International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


POSTER 109 - MOLECULAR CHARACTERIZATION OF THE POLYCYSTIC KIDNEY DISEASE CAUSING GENE BICC1

Price S J
Joan C. Edwards School of Medicine, Marshall University

Co-Authors: 2) Davis K L,2) Guay-Woodford L M, 1 & 3) Bryda E C
Institutions: 1) Joan C. Edwards School of Medicine, Marshall University. 2) University of Alabama at Birmingham. 3) University of Missouri - Columbia

The Bicaudal-C (Bicc1) gene on mouse Chromosome 10, when mutated, causes a severe form of polycystic kidney disease (PKD). At least two mutant alleles of Bicc1 exist: Bicc1jcpk and Bicc1bpk. These two mutations are predicted to have distinctly different effects on the structure of the Bicc1 protein and in turn, may partially explain the different PKD phenotypes observed in Bicc1jcpk/jcpk versus Bicc1bpk/bpk animals. Confocal microscopy of cultured cells demonstrates localization of the Bicc1 protein to the primary apical cilia of renal epithelium. Interestingly, a number of other mouse models exhibiting mutations in the genes encoding cilia proteins not only develop PKD, but also exhibit alterations in body plan asymmetry. Preliminary analyses of PKD affected Bicc1 jcpk mice have identified a number of laterality defects including dextrocardia and lung isomerism.

Currently, the function of the Bicc1 protein is unknown; however, several functional domains have been identified: three K Homology (KH) RNA binding domains at the N-terminus and one sterile alpha motif (SAM) at the C-terminus. Ribonucleotide homopolymer analysis has determined that mouse Bicc1 binds RNA in vitro. Currently, efforts are focused on determining the specific mRNAs with which Bicc1 interacts. The present investigation represents a further step in understanding the function of the mouse Bicc1 protein and its role in PKD pathogenesis and body plan asymmetry.


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