Positional cloning of jcpk/bpk locus of the mouse

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. B...

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Bibliographic Details
Published in:Mammalian genome 2003-04, Vol.14 (4), p.242-249
Main Authors: Cogswell, Cathy, Price, Sarah J, Hou, Xiaoying, Guay-Woodford, Lisa M, Flaherty, Lorraine, Bryda, Elizabeth C
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Animals
Base Sequence
Chromosomes, Artificial, Bacterial
Cloning, Molecular
DNA Primers
Drosophila Proteins - genetics
Humans
Mice
Molecular Sequence Data
Mutation
RNA, Messenger - genetics
RNA-Binding Proteins - genetics
Sequence Homology, Amino Acid
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Summary: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.
ISSN:0938-8990
1432-1777
DOI:10.1007/s00335-002-2241-0