A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
复制标题
DOI：
10.1038/ng.367
复制
发表时间：
2009-05
期刊：
影响因子：
30.8
通讯作者：
Stratton, Michael R.
中科院分区：
文献类型：
--
作者：
Tarpey, Patrick S.;Smith, Raffaella;Pleasance, Erin;Whibley, Annabel;Edkins, Sarah;Hardy, Claire;O'Meara, Sarah;Latimer, Calli;Dicks, Ed;Menzies, Andrew;Stephens, Phil;Blow, Matt;Greenman, Chris;Xue, Yali;Tyler-Smith, Chris;Thompson, Deborah;Gray, Kristian;Andrews, Jenny;Barthorpe, Syd;Buck, Gemma;Cole, Jennifer;Dunmore, Rebecca;Jones, David;Maddison, Mark;Mironenko, Tatiana;Turner, Rachel;Turrell, Kelly;Varian, Jennifer;West, Sofie;Widaa, Sara;Wray, Paul;Teague, Jon;Butler, Adam;Jenkinson, Andrew;Jia, Mingming;Richardson, David;Shepherd, Rebecca;Wooster, Richard;Tejada, M. Isabel;Martinez, Francisco;Carvill, Gemma;Goliath, Rene;de Brouwer, Arjan P. M.;van Bokhoven, Hans;Van Esch, Hilde;Chelly, Jamel;Raynaud, Martine;Ropers, Hans-Hilger;Abidi, Fatima E.;Srivastava, Anand K.;Cox, James;Luo, Ying;Mallya, Uma;Moon, Jenny;Parnau, Josef;Mohammed, Shehla;Tolmie, John L.;Shoubridge, Cheryl;Corbett, Mark;Gardner, Alison;Haan, Eric;Rujirabanjerd, Sinitdhorn;Shaw, Marie;Vandeleur, Lucianne;Fullston, Tod;Easton, Douglas F.;Boyle, Jackie;Partington, Michael;Hackett, Anna;Field, Michael;Skinner, Cindy;Stevenson, Roger E.;Bobrow, Martin;Turner, Gillian;Schwartz, Charles E.;Gecz, Jozef;Raymond, F. Lucy;Futreal, P. Andrew;Stratton, Michael R.
大规模系统重测序已被提议作为未来发现人类复杂疾病范围内罕见致病序列变异的关键策略。我们对 208 个 X 连锁智力低下 (XLMR) 家族的 X 染色体编码外显子进行了测序，这是迄今为止报道的最大的体质致病突变直接筛查。筛选发现了与 XLMR 相关的 9 个基因，包括此处报告的 SYP、ZNF711 和 CASK，证实了该策略的功效。然而，该研究也强调了全基因组测序筛选面临的问题，包括观察到 1% 或更多 X 染色体基因的功能丧失与表面上的正常存在相一致。
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.
登录
查看更多内容
影响因子：
64.8
作者：
Bustamante, CD;Fledel-Alon, A;Clark, AG
通讯作者：
Clark, AG
影响因子：
9.8
作者：
Field, Michael;Tarpey, Patrick S.;Raymond, F. Lucy
通讯作者：
Raymond, F. Lucy
影响因子：
64.8
作者：
MCDONALD, JH;KREITMAN, M
通讯作者：
KREITMAN, M
人类癌基因组中体细胞突变的模式。
影响因子：
64.8
作者：
Greenman, Christopher;Stephens, Philip;Smith, Raffaella;Dalgliesh, Gillian L.;Hunter, Christopher;Bignell, Graham;Davies, Helen;Teague, Jon;Butler, Adam;Edkins, Sarah;O'Meara, Sarah;Vastrik, Imre;Schmidt, Esther E.;Avis, Tim;Barthorpe, Syd;Bhamra, Gurpreet;Buck, Gemma;Choudhury, Bhudipa;Clements, Jody;Cole, Jennifer;Dicks, Ed;Forbes, Simon;Gray, Kris;Halliday, Kelly;Harrison, Rachel;Hills, Katy;Hinton, Jon;Jenkinson, Andy;Jones, David;Menzies, Andy;Mironenko, Tatiana;Perry, Janet;Raine, Keiran;Richardson, Dave;Shepherd, Rebecca;Small, Alexandra;Tofts, Calli;Varian, Jennifer;Webb, Tony;West, Sofie;Widaa, Sara;Yates, Andy;Cahill, Daniel P.;Louis, David N.;Goldstraw, Peter;Nicholson, Andrew G.;Brasseur, Francis;Looijenga, Leendert;Weber, Barbara L.;Chiew, Yoke-Eng;deFazio, Anna;Greaves, Mel F.;Green, Anthony R.;Campbell, Peter;Birney, Ewan;Easton, Douglas F.;Chenevix-Trench, Georgia;Tan, Min-Han;Khoo, Sok Kean;Teh, Bin Tean;Yuen, Siu Tsan;Leung, Suet Yi;Wooster, Richard;Futreal, P. Andrew;Stratton, Michael R.
通讯作者：
Stratton, Michael R.
影响因子：
4.6
作者：
Liang, Shuang;Li, Yizheng;Liu, Wei
通讯作者：
Liu, Wei