A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

被引：465

作者：

Tarpey, Patrick S. ^{[1
]}

Smith, Raffaella ^{[1
]}

Pleasance, Erin ^{[1
]}

Whibley, Annabel ^{[2
]}

Edkins, Sarah ^{[1
]}

Hardy, Claire ^{[1
]}

O'Meara, Sarah ^{[1
]}

Latimer, Calli ^{[1
]}

Dicks, Ed ^{[1
]}

Menzies, Andrew ^{[1
]}

Stephens, Phil ^{[1
]}

Blow, Matt ^{[1
]}

Greenman, Chris ^{[1
]}

Xue, Yali ^{[1
]}

Tyler-Smith, Chris ^{[1
]}

Thompson, Deborah ^{[3
]}

Gray, Kristian ^{[1
]}

Andrews, Jenny ^{[1
]}

Barthorpe, Syd ^{[1
]}

Buck, Gemma ^{[1
]}

Cole, Jennifer ^{[1
]}

Dunmore, Rebecca ^{[1
]}

Jones, David ^{[1
]}

Maddison, Mark ^{[1
]}

Mironenko, Tatiana ^{[1
]}

Turner, Rachel ^{[1
]}

Turrell, Kelly ^{[1
]}

Varian, Jennifer ^{[1
]}

West, Sofie ^{[1
]}

Widaa, Sara ^{[1
]}

Wray, Paul ^{[1
]}

Teague, Jon ^{[1
]}

Butler, Adam ^{[1
]}

Jenkinson, Andrew ^{[1
]}

Jia, Mingming ^{[1
]}

Richardson, David ^{[1
]}

Shepherd, Rebecca ^{[1
]}

Wooster, Richard ^{[1
]}

Tejada, M. Isabel ^{[4
]}

Martinez, Francisco ^{[5
]}

Carvill, Gemma ^{[6
]}

Goliath, Rene ^{[6
]}

de Brouwer, Arjan P. M. ^{[7
]}

van Bokhoven, Hans ^{[7
]}

Van Esch, Hilde ^{[8
]}

Chelly, Jamel ^{[9
]}

Raynaud, Martine ^{[10
]}

Ropers, Hans-Hilger ^{[11
]}

Abidi, Fatima E. ^{[12
]}

Srivastava, Anand K. ^{[12
]}

机构：

[1] Wellcome Trust Sanger Inst, Cambridge, England

[2] Cambridge Inst Med Res, Cambridge, England

[3] Strangeways Res Lab, Canc Res UK Genet Epidemiol Unit, Cambridge CB1 4RN, England

[4] Hosp Cruces, Mol Genet Lab, Bizkaia, Spain

[5] Hosp Univ La Fe, Unidad Genet & Diagnost Prenatal, Valencia, Spain

[6] Univ S Africa, Fac Hlth Sci, Human Genet Res Unit, MRC, ZA-0001 Pretoria, South Africa

[7] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands

[8] Katholieke Univ Leuven Hosp, Ctr Human Genet, Leuven, Belgium

[9] Univ Paris 05, Inst Cochin, INSERM, CNRS,Unite 567,UMR 8104, Paris, France

[10] Ctr Hosp Reg Univ Tours, INSERM, U930, Serv Genet, Tours, France

[11] Max Planck Inst Mol Genet, Dept Human Mol Genet, Berlin, Germany

[12] Greenwood Genet Ctr, JC Self Res Inst Human Genet, Greenwood, SC 29646 USA

[13] Guys Hosp, London SE1 9RT, England

[14] Yorkhill Hosp, Inst Med Genet, Glasgow, Lanark, Scotland

[15] Womens & Childrens Hosp, Adelaide, SA, Australia

[16] GOLD Serv, Waratah, NSW, Australia

[17] Univ Adelaide, Adelaide, SA, Australia

[18] Inst Canc Res, Surrey, England

来源：

NATURE GENETICS | 2009年 / 41卷 / 05期

基金：

美国国家卫生研究院; 英国惠康基金; 澳大利亚国家健康与医学研究理事会;

关键词：

DNA-SEQUENCE; MUTATIONS; SELECTION; GENETICS; DISEASE; GENES; POLYMORPHISM; EXPRESSION; PHENOTYPE; SUBUNIT;

D O I：

10.1038/ng.367

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Large-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing sequence variants across the spectrum of human complex disease. We have sequenced the coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR), the largest direct screen for constitutional disease-causing mutations thus far reported. The screen has discovered nine genes implicated in XLMR, including SYP, ZNF711 and CASK reported here, confirming the power of this strategy. The study has, however, also highlighted issues confronting whole-genome sequencing screens, including the observation that loss of function of 1% or more of X-chromosome genes is compatible with apparently normal existence.

引用

页码：535 / 543

页数：9

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