International Mammalian Genome Society

The 16th International Mouse Genome Conference (2002)


Oral Presentation

Monday 18 November

09:15 - 09:30 HRS

MUTATIONS IN THE BICAUDAL C GENE ON CHROMOSOME 10 CAUSE SEVERE POLYCYSTIC KIDNEY DISEASE IN THE MOUSE

EC Bryda
Joan C. Edwards School of Medicine, Marshall University

Co-Authors: 1) Price SJ, 2) Cogswell C, 3) Hou X, 3)  , 2)Flaherty L
Institutions: 1) Joan C. Edwards School of Medicine, Marshall University, 2) Wadsworth Center, 3)University of Alabama at Birmingham

We have identified a gene on Chromosome 10 that is disrupted in the jcpk and bpk mouse models for polycystic kidney disease.  Positional cloning techniques were used to localize the jcpk/bpk locus to a short stretch of Chromosome 10 contained in three overlapping BACs.  The mouse homologue of the Drosophila Bicaudal C gene was identified within the critical region and considered as a candidate. In Drosophila, this gene encodes a protein known to influence developmental processes.  The mouse bicaudal C (Bicc1) gene contains three K homology (KH) RNA-binding domains, a sterile alpha motif (SAM) domain and is expressed in the developing embryo, indicating that it may be important in RNA-binding and/or protein interactions during embryogenesis. Sequence analysis of the Bicc1 gene in both jcpk and bpk identified mutations that alter the transcripts and are predicted to result in abnormal proteins.  Both mutant alleles disrupt the SAM domain while the jcpk allele also affects the KH domains.  Further examination of these mouse models and the role of bicaudal C may elucidate genetic factors that control cyst formation and define pathways that are involved in the regulation of normal renal tubular architecture.


Abstracts * Officers * Bylaws * Application Form * Meeting Calendar * Contact Information * Home * Resources * News and Views * Membership

Base url http://imgs.org
Last modified: Saturday, November 3, 2012