Article
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.
American journal of human genetics - 15 Jul 2011
Hanson Dan, Murray Philip G, O'Sullivan James, Urquhart Jill, Daly Sarah, Bhaskar Sanjeev S, Biesecker Leslie G, Skae Mars, Smith Claire, Cole Trevor, Kirk Jeremy, Chandler Kate, Kingston Helen, Donnai Dian, Clayton Peter E, Black Graeme C M
Abstract excerpt
3-M syndrome, a primordial growth disorder, is associated with mutations in CUL7 and OBSL1. Exome sequencing now identifies mutations in CCDC8 as a cause of 3-M syndrome. CCDC8 is a widely expressed gene that is transcriptionally associated to CUL7 and OBSL1, and coimmunoprecipitation indicates a physical interaction between CCDC8 and OBSL1 but not CUL7. We propose that CUL7, OBSL1, and CCDC8 are members of a...
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