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

被引：91

作者：

Hanson, Dan ^{[1
,2
,3
]}

Murray, Philip G. ^{[1
,2
,3
,4
]}

O'Sullivan, James ^{[1
,2
,4
]}

Urquhart, Jill ^{[1
,2
,4
]}

Daly, Sarah ^{[1
,2
,4
]}

Bhaskar, Sanjeev S. ^{[1
,2
,4
]}

Biesecker, Leslie G. ^{[5
,6
]}

Skae, Mars ^{[4
]}

Smith, Claire ^{[7
]}

Cole, Trevor ^{[8
]}

Kirk, Jeremy ^{[9
]}

Chandler, Kate ^{[1
,2
,4
]}

Kingston, Helen ^{[1
,2
,4
]}

Donnai, Dian ^{[1
,2
,4
]}

Clayton, Peter E. ^{[3
,4
]}

Black, Graeme C. M. ^{[1
,2
,4
]}

机构：

[1] Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

[2] Cent Manchester Fdn Trust, St Marys Hosp, Manchester M13 9WL, Lancs, England

[3] Univ Manchester, Sch Biomed, Dept Endocrinol, MAHSC, Manchester M13 9WL, Lancs, England

[4] Cent Manchester Univ Hosp Fdn Trust, Manchester M13 9WL, Lancs, England

[5] NIH, Intramural Sequencing Ctr, Bethesda, MD 20892 USA

[6] NHGRI, NIH, Bethesda, MD 20814 USA

[7] E Lancashire Hosp NHS Trust, Royal Blackburn Hosp, Blackburn BB2 3HH, Lancs, England

[8] Birmingham Womens Hosp, W Midlands Reg Genet Serv, Birmingham B15 2TG, W Midlands, England

[9] Birmingham Childrens Hosp, Dept Paediat Endocrinol, Birmingham B4 6NH, W Midlands, England

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2011年 / 89卷 / 01期

关键词：

OBSCURIN-LIKE-1; DOMAIN; P53;

D O I：

10.1016/j.ajhg.2011.05.028

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：148 / 153

页数：6

共 21 条

[1]

[Anonymous], AutoSNPa

[2]

[Anonymous], dbSNP

[3] The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine [J].