The functional impact of structural variation in humans

被引：137

作者：

Hurles, Matthew E. ^{[1
]}

Dermitzakis, Emmanouil T. ^{[1
]}

Tyler-Smith, Chris ^{[1
]}

机构：

[1] Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

来源：

TRENDS IN GENETICS | 2008年 / 24卷 / 05期

基金：

英国惠康基金;

关键词：

D O I：

10.1016/j.tig.2008.03.001

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Structural variation includes many different types of chromosomal rearrangement and encompasses millions of bases in every human genome. Over the past 3 years, the extent and complexity of structural variation has become better appreciated. Diverse approaches have been adopted to explore the functional impact of this class of variation. As disparate indications of the important biological consequences of genome dynamism are accumulating rapidly, we review the evidence that structural variation has an appreciable impact on cellular phenotypes, disease and human evolution.

引用

页码：238 / 245

页数：8

共 74 条

[1] Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans [J].

Aitman, TJ ;

Dong, R ;

Vyse, TJ ;

Norsworthy, PJ ;

Johnson, MD ;

Smith, J ;

Mangion, J ;

Roberton-Lowe, C ;

Marshall, AJ ;

Petretto, E ;

Hodges, MD ;

Bhangal, G ;

Patel, SG ;

Sheehan-Rooney, K ;

Duda, M ;

Cook, PR ;

Evans, DJ ;

Domin, J ;

Flint, J ;

Boyle, JJ ;

Pusey, CD ;

Cook, HT .

NATURE, 2006, 439 (7078) :851-855

[2] Measurement of locus copy number by hybridisation with amplifiable probes [J].

Armour, JAL ;

Sismani, C ;

Patsalis, PC ;

Cross, G .

NUCLEIC ACIDS RESEARCH, 2000, 28 (02) :605-609

[3] GENETIC RISK AND CARCINOGEN EXPOSURE - A COMMON INHERITED DEFECT OF THE CARCINOGEN-METABOLISM GENE GLUTATHIONE-S-TRANSFERASE M1 (GSTM1) THAT INCREASES SUSCEPTIBILITY TO BLADDER-CANCER [J].

BELL, DA ;

TAYLOR, JA ;

PAULSON, DF ;

ROBERTSON, CN ;

MOHLER, JL ;

LUCIER, GW .

JOURNAL OF THE NATIONAL CANCER INSTITUTE, 1993, 85 (14) :1159-1164

[4] High-resolution analysis of DNA copy number using oligonucleotide microarrays [J].

Bignell, GR ;

Huang, J ;

Greshock, J ;

Watt, S ;

Butler, A ;

West, S ;

Grigorova, M ;

Jones, KW ;

Wei, W ;

Stratton, MR ;

Futreal, PA ;

Weber, B ;

Shapero, MH ;

Wooster, R .

GENOME RESEARCH, 2004, 14 (02) :287-295

[5] The Bar "gene" - A duplication [J].

Bridges, CB .

SCIENCE, 1936, 83 :210-211

[6] Methods and strategies for analyzing copy number variation using DNA microarrays [J].

Carter, Nigel P. .

NATURE GENETICS, 2007, 39 (Suppl 7) :S16-S21

[7] Natural variation in human gene expression assessed in lymphoblastoid cells [J].

Cheung, VG ;

Conlin, LK ;

Weber, TM ;

Arcaro, M ;

Jen, KY ;

Morley, M ;

Spielman, RS .

NATURE GENETICS, 2003, 33 (03) :422-425

[8] A high-resolution survey of deletion polymorphism in the human genome [J].

Conrad, DF ;

Andrews, TD ;

Carter, NP ;

Hurles, ME ;

Pritchard, JK .

NATURE GENETICS, 2006, 38 (01) :75-81

[9] Direct quantitative trait locus mapping of mammalian metabolic phenotypes in diabetic and normoglycemic rat models [J].

Dumas, Marc-Emmanuel ;

Wilder, Steven P. ;

Bihoreau, Marie-Therese ;

Barton, Richard H. ;

Fearnside, Jane F. ;

Argoud, Karene ;

D'Amato, Lisa ;

Wallis, Robert H. ;

Blancher, Christine ;

Keun, Hector C. ;

Baunsgaard, Dorrit ;

Scott, James ;

Sidelmann, Ulla Grove ;

Nicholson, Jeremy K. ;

Gauguier, Dominique .

NATURE GENETICS, 2007, 39 (05) :666-672

[10] Completing the map of human genetic variation [J].

Eichler, Evan E. ;

Nickerson, Deborah A. ;

Altshuler, David ;

Bowcock, Anne M. ;

Brooks, Lisa D. ;

Carter, Nigel P. ;

Church, Deanna M. ;

Felsenfeld, Adam ;

Guyer, Mark ;

Lee, Charles ;

Lupski, James R. ;

Mullikin, James C. ;

Pritchard, Jonathan K. ;

Sebat, Jonathan ;

Sherry, Stephen T. ;

Smith, Douglas ;

Valle, David ;

Waterston, Robert H. .

NATURE, 2007, 447 (7141) :161-165

← 1 2 3 4 5 6 7 8 →