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Dissection of epistasis in oligogenic Bardet–Biedl syndrome

Author

Listed:
  • Jose L. Badano

    (McKusick-Nathans Institute of Genetic Medicine)

  • Carmen C. Leitch

    (McKusick-Nathans Institute of Genetic Medicine)

  • Stephen J. Ansley

    (McKusick-Nathans Institute of Genetic Medicine)

  • Helen May-Simera

    (University College London)

  • Shaneka Lawson

    (McKusick-Nathans Institute of Genetic Medicine)

  • Richard Alan Lewis

    (Baylor College of Medicine)

  • Philip L. Beales

    (University College London)

  • Harry C. Dietz

    (McKusick-Nathans Institute of Genetic Medicine
    Howard Hughes Medical Institute)

  • Shannon Fisher

    (McKusick-Nathans Institute of Genetic Medicine
    Department of Cell Biology)

  • Nicholas Katsanis

    (McKusick-Nathans Institute of Genetic Medicine
    Johns Hopkins University)

Abstract

Gene versus gene Epistasis, a phenomenon in which one gene influences the expression of a second gene at a different locus, is a major source of genetic variation, but the mechanisms involved have not been analysed in detail. Now Badano et al. have succeeded in demonstrating and closely examining epistasis in Bardet–Biedl syndrome, an illness often characterized by obesity and learning deficits. The severity of symptoms varies dramatically among patients with this disorder, in line with different combinations of mutations at different genes. A modifier gene called MGC1203 interacts with other genes known to be mutated in Bardet–Biedl syndrome, leading to a more severe form of the disease.

Suggested Citation

  • Jose L. Badano & Carmen C. Leitch & Stephen J. Ansley & Helen May-Simera & Shaneka Lawson & Richard Alan Lewis & Philip L. Beales & Harry C. Dietz & Shannon Fisher & Nicholas Katsanis, 2006. "Dissection of epistasis in oligogenic Bardet–Biedl syndrome," Nature, Nature, vol. 439(7074), pages 326-330, January.
    • Handle: RePEc:nat:nature:v:439:y:2006:i:7074:d:10.1038_nature04370
    DOI: 10.1038/nature04370
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