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By positional cloning techniques, we have identified the gene that is disrupted in the jcpk and bpk mouse models for polycystic kidney disease. This gene is the mouse homolog of the Drosophila Bicaudal C gene. Both of these mutations have been mapped to a very short stretch of Chromosome (Chr) 10. By sequencing the bicaudal C gene, Bicc1, in these models, it was found that the jcpk mutation results in a shortened and abnormal transcript, whereas the bpk mutation results in an abnormal 3' coding region. In Drosophila, this gene encodes a protein known to influence developmental processes. The mammalian homolog contains three KH (K homology) domains and a SAM (sterile alpha motif) domain and is expressed in the developing embryo, indicating that it may be important in RNA-binding and/or protein interactions during embryogenesis.


Cathy Cogswell, Sarah J Price, Xiaoying Hou, Lisa M Guay-Woodford, Lorraine Flaherty, Elizabeth C Bryda. Positional cloning of jcpk/bpk locus of the mouse. Mammalian genome : official journal of the International Mammalian Genome Society. 2003 Apr;14(4):242-9

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PMID: 12682776

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