Dissection of epistasis in oligogenic Bardet–Biedl syndrome

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 and Nicholas Katsanis ()
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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
Shannon Fisher: McKusick-Nathans Institute of Genetic Medicine
Nicholas Katsanis: McKusick-Nathans Institute of Genetic Medicine

Nature, 2006, vol. 439, issue 7074, 326-330

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.

Date: 2006
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DOI: 10.1038/nature04370

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