Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth
Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth
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DOI：
10.1016/j.ajhg.2011.05.028
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发表时间：
2011-07-15
影响因子：
9.8
通讯作者：
Black, Graeme C. M.
中科院分区：
文献类型：
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作者：
Hanson, Dan;Murray, Philip G.;Black, Graeme C. M.
3-M综合征是一种原始生长障碍，与CUL7和OBSL1基因突变有关。外显子组测序现在确定CCDC8突变是3-M综合征的原因。CCDC8是一个广泛表达的基因，在转录上与CUL7和OBSL1相关，共免疫沉淀表明CCDC8和OBSL1之间存在物理相互作用，而CUL7则不存在。我们认为CUL7， OBSL1和CCDC8是控制哺乳动物生长的途径的成员。
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.