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Cell Press, American Journal of Human Genetics, 1(89), p. 148-153, 2011

DOI: 10.1016/j.ajhg.2011.05.028

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Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth

Journal article published in 2011 by Dan Hanson, Philip G. Murray, James O'Sullivan, Jill Urquhart ORCID, Sarah Daly, Sanjeev S. Bhaskar, Leslie G. Biesecker, Mars Skae, Claire Smith, Trevor Cole, Jeremy Kirk, Kate Chandler, Helen Kingston, Dian Donnai, Peter E. Clayton and other authors.
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Abstract

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 pathway controlling mammalian growth. © 2011 by The American Society of Human Genetics. All rights reserved.