Copy Number Variation in Human Health, Disease, and Evolution

被引：871

作者：

Zhang, Feng ^{[1
]}

Gu, Wenli ^{[1
,5
]}

Hurles, Matthew E. ^{[2
]}

Lupski, James R. ^{[1
,3
,4
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

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

[3] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[4] Texas Childrens Hosp, Houston, TX 77030 USA

[5] Univ Munich, Sch Med, Inst Human Genet, D-80336 Munich, Germany

来源：

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS | 2009年 / 10卷

基金：

英国惠康基金;

关键词：

FoSTeS; genomic disorder; genomotype/phenotype correlations; MMBIR; NAHR; NHEJ; SYSTEMIC-LUPUS-ERYTHEMATOSUS; AMYLOID PRECURSOR-PROTEIN; COMPARATIVE GENOMIC HYBRIDIZATION; FAMILIAL PARKINSONS-DISEASE; RECOMBINATION HOT-SPOTS; HUMAN GENETIC-VARIATION; HUMAN COLOR-VISION; ALPHA-GLOBIN GENE; STRUCTURAL VARIATION; SEGMENTAL DUPLICATIONS;

D O I：

10.1146/annurev.genom.9.081307.164217

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Copy number variation (CNV) is a source of genetic diversity in humans. Numerous CNVs are being identified wide various genome analysis platforms, including array comparative genomic hybridization (aCGH), single nucleotide polymorphism (SNP) genotyping platforms, and next-generation sequencing. CNV formation occurs by both recombination-based and replication-based mechanisms and de novo locus-specific mutation rates appear much higher for CNVs than for SNPs. By various molecular mechanisms, including gene dosage, gene disruption, gene fusion, position effects, etc., CNVs can cause Mendelian or sporadic traits, or be associated with complex diseases. However, CNV can also represent benign polymorphic variants. CNVs, especially gene duplication and exon shuffling, can be a predominant mechanism driving gene and genome evolution.

引用

页码：451 / 481

页数：31

共 187 条

[51] Strong correlation between meiotic crossovers and haplotype structure in a 2.5-Mb region on the long arm of chromosome 21 [J].

Greenawalt, DM ;

Cui, XF ;

Wu, YJ ;

Lin, Y ;

Wang, HY ;

Luo, MJ ;

Tereshchenko, IV ;

Hu, GH ;

Li, JY ;

Chu, Y ;

Azaro, MA ;

DeCoste, CJ ;

Chimge, NO ;

Gao, RC ;

Shen, L ;

Shih, WCJ ;

Lange, K ;

Li, HH .

GENOME RESEARCH, 2006, 16 (02) :208-214

[52]

Gu Wenli, 2008, Pathogenetics, V1, P4, DOI 10.1186/1755-8417-1-4

[53] Alu recombination-mediated structural deletions in the chimpanzee genome [J].

Han, Kyudong ;

Lee, Jungnam ;

Meyer, Thomas J. ;

Wang, Jianxin ;

Sen, Shurjo K. ;

Srikanta, Deepa ;

Liang, Ping ;

Batzer, Mark A. .

PLOS GENETICS, 2007, 3 (10) :1939-1949

[54] L1 recombination-associated deletions generate human genomic variation [J].

Han, Kyudong ;

Lee, Jungnam ;

Meyer, Thomas J. ;

Remedios, Paul ;

Goodwin, Lindsey ;

Batzer, Mark A. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2008, 105 (49) :19366-19371

[55] Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant [J].

Hannes, F. D. ;

Sharp, A. J. ;

Mefford, H. C. ;

de Ravel, T. ;

Ruivenkamp, C. A. ;

Breuning, M. H. ;

Fryns, J-P ;

Devriendt, K. ;

Van Buggenhout, G. ;

Vogels, A. ;

Stewart, H. ;

Hennekam, R. C. ;

Cooper, G. M. ;

Regan, R. ;

Knight, S. J. L. ;

Eichler, E. E. ;

Vermeesch, J. R. .

JOURNAL OF MEDICAL GENETICS, 2009, 46 (04) :223-232

[56] A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation [J].

Hastings, P. J. ;

Ira, Grzegorz ;

Lupski, James R. .

PLOS GENETICS, 2009, 5 (01)

[57] 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy [J].

Helbig, Ingo ;

Mefford, Heather C. ;

Sharp, Andrew J. ;

Guipponi, Michel ;

Fichera, Marco ;

Franke, Andre ;

Muhle, Hiltrud ;

de Kovel, Carolien ;

Baker, Carl ;

von Spiczak, Sarah ;

Kron, Katherine L. ;

Steinich, Ines ;

Kleefuss-Lie, Ailing A. ;

Leu, Costin ;

Gaus, Verena ;

Schmitz, Bettina ;

Klein, Karl M. ;

Reif, Philipp S. ;

Rosenow, Felix ;

Weber, Yvonne ;

Lerche, Holger ;

Zimprich, Fritz ;

Urak, Lydia ;

Fuchs, Karoline ;

Feucht, Martha ;

Genton, Pierre ;

Thomas, Pierre ;

Visscher, Frank ;

de Haan, Gerrit-Jan ;

Moller, Rikke S. ;

Hjalgrim, Helle ;

Luciano, Daniela ;

Wittig, Michael ;

Nothnagel, Michael ;

Elger, Christian E. ;

Nuernberg, Peter ;

Romano, Corrado ;

Malafosse, Alain ;

Koeleman, Bobby P. C. ;

Lindhout, Dick ;

Stephani, Ulrich ;

Schreiber, Stefan ;

Eichler, Evan E. ;

Sander, Thomas .

NATURE GENETICS, 2009, 41 (02) :160-162

[58]

HIGGS DR, 1979, LANCET, V2, P272

[59] Common deletions and SNPs are in linkage disequilibrium in the human genome [J].

Hinds, DA ;

Kloek, AP ;

Jen, M ;

Chen, XY ;

Frazer, KA .

NATURE GENETICS, 2006, 38 (01) :82-85

[60] Psoriasis is associated with increased β-defensin genomic copy number [J].

Hollox, Edward J. ;

Huffmeier, Ulrike ;

Zeeuwen, Patrick L. J. M. ;

Palla, Raquel ;

Lascorz, Jesús ;

Rodijk-Olthuis, Diana ;

van de Kerkhof, Peter C. M. ;

Traupe, Heiko ;

de Jongh, Gys ;

den Heijer, Martin ;

Reis, Andre ;

Armour, John A. L. ;

Schalkwijk, Joost .

NATURE GENETICS, 2008, 40 (01) :23-25

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