[PDF][PDF] Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human …
D Hanson, PG Murray, J O'Sullivan, J Urquhart… - The American Journal of …, 2011 - cell.com
D Hanson, PG Murray, J O'Sullivan, J Urquhart, S Daly, SS Bhaskar, LG Biesecker, M Skae…
The American Journal of Human Genetics, 2011•cell.com3-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.
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.
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.
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