Mammalian Genome

, Volume 14, Issue 4, pp 242–249

Positional cloning of jcpk/bpk locus of the mouse

  • Cathy Cogswell
  • Sarah J. Price
  • Xiaoying Hou
  • Lisa M. Guay-Woodford
  • Lorraine Flaherty
  • Elizabeth C. Bryda

DOI: 10.1007/s00335-002-2241-0

Cite this article as:
Cogswell, C., Price, S., Hou, X. et al. Mamm Genome (2003) 14: 242. doi:10.1007/s00335-002-2241-0

Abstract

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.

Copyright information

© Springer-Verlag New York Inc. 2003

Authors and Affiliations

  • Cathy Cogswell
    • 1
  • Sarah J. Price
    • 2
  • Xiaoying Hou
    • 3
  • Lisa M. Guay-Woodford
    • 3
  • Lorraine Flaherty
    • 1
  • Elizabeth C. Bryda
    • 2
  1. 1.Genomics Institute, Wadsworth Center, P.O. Box 22002, Albany, New York 12201–2002, USA; and Department of Biomedical Sciences, University at Albany, Albany, New York, USA
  2. 2.Department of Microbiology, Immunology & Molecular Genetics, Joan C. Edwards School of Medicine, Marshall University, 1542 Spring Drive, Huntington, West Virginia 25704, USA
  3. 3.Division of Genetic and Translational Medicine, Departments of Medicine and Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
  4. 4.Department of Pediatrics, Albany Medical College, Albany, New York, USA