Side effects of genome structural changes

被引：72

作者：

Reymond, Alexandre

Henrichsen, Charlotte N.

Harewood, Louise

Merla, Giuseppe

机构：

[1] Univ Lausanne, Ctr Integrat Genom, CH-1015 Lausanne, Switzerland

[2] IRCCS Casa Sollievo Sofferenza, Serv Genet Med, I-71013 San Giovanni Rotondo, Italy

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 2007年 / 17卷 / 05期

关键词：

D O I：

10.1016/j.gde.2007.08.009

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

The first extensive catalog of structural human variation was recently released. It showed that large stretches of genomic DNA that vary considerably in copy number were extremely abundant. Thus it is conceivable that they play a major role in functional variation. Consistently, genomic insertions and deletions were shown to contribute to phenotypic differences by modifying not only the expression levels of genes within the aneuploid segments but also of normal copy-number neighboring genes. In this report, we review the possible mechanisms behind this latter effect.

引用

页码：381 / 386

页数：6

共 77 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] Transcription-mediated gene fusion in the human genome [J].

Akiva, P ;

Toporik, A ;

Edelheit, S ;

Peretz, Y ;

Diber, A ;

Shemesh, R ;

Novik, A ;

Sorek, R .

GENOME RESEARCH, 2006, 16 (01) :30-36

[3] Copy number polymorphism and expression level variation of the human α-defensin genes DEFA1 and DEFA3 [J].

Aldred, PMR ;

Hollox, EJ ;

Armour, JAL .

HUMAN MOLECULAR GENETICS, 2005, 14 (14) :2045-2052

[4] DiGeorge syndrome: an update [J].

Baldini, A .

CURRENT OPINION IN CARDIOLOGY, 2004, 19 (03) :201-204

[5] Mutational mechanisms of Williams-Beuren syndrome deletions [J].

Bayés, M ;

Magano, LF ;

Rivera, N ;

Flores, R ;

Jurado, LAP .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (01) :131-151

[6] Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region [J].

Berg, Jonathan S. ;

Brunetti-Pierri, Nicola ;

Peters, Sarika U. ;

Kang, Sung-Hae L. ;

Fong, Chin-to ;

Salamone, Jessica ;

Freedenberg, Debra ;

Hannig, Vickie L. ;

Prock, Lisa Albers ;

Miller, David T. ;

Raffalli, Peter ;

Harris, David J. ;

Erickson, Robert P. ;

Cunniff, Christopher ;

Clark, Gary D. ;

Blazo, Maria A. ;

Peiffer, Daniel A. ;

Gunderson, Kevin L. ;

Sahoo, Trilochan ;

Patel, Ankita ;

Lupski, James R. ;

Beaudet, Arthur L. ;

Cheung, Sau Wai .

GENETICS IN MEDICINE, 2007, 9 (07) :427-441

[7] Global identification of human transcribed sequences with genome tiling arrays [J].

Bertone, P ;

Stolc, V ;

Royce, TE ;

Rozowsky, JS ;

Urban, AE ;

Zhu, XW ;

Rinn, JL ;

Tongprasit, W ;

Samanta, M ;

Weissman, S ;

Gerstein, M ;

Snyder, M .

SCIENCE, 2004, 306 (5705) :2242-2246

[8] Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse [J].

Bi, WM ;

Yan, J ;

Stankiewicz, P ;

Park, SS ;

Walz, K ;

Boerkoel, CF ;

Potocki, L ;

Shaffer, LG ;

Devriendt, K ;

Nowaczyk, MJM ;

Inoue, K ;

Lupski, JR .

GENOME RESEARCH, 2002, 12 (05) :713-728

[9] Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project [J].

Birney, Ewan ;

Stamatoyannopoulos, John A. ;

Dutta, Anindya ;

Guigo, Roderic ;

Gingeras, Thomas R. ;

Margulies, Elliott H. ;

Weng, Zhiping ;

Snyder, Michael ;

Dermitzakis, Emmanouil T. ;

Stamatoyannopoulos, John A. ;

Thurman, Robert E. ;

Kuehn, Michael S. ;

Taylor, Christopher M. ;

Neph, Shane ;

Koch, Christoph M. ;

Asthana, Saurabh ;

Malhotra, Ankit ;

Adzhubei, Ivan ;

Greenbaum, Jason A. ;

Andrews, Robert M. ;

Flicek, Paul ;

Boyle, Patrick J. ;

Cao, Hua ;

Carter, Nigel P. ;

Clelland, Gayle K. ;

Davis, Sean ;

Day, Nathan ;

Dhami, Pawandeep ;

Dillon, Shane C. ;

Dorschner, Michael O. ;

Fiegler, Heike ;

Giresi, Paul G. ;

Goldy, Jeff ;

Hawrylycz, Michael ;

Haydock, Andrew ;

Humbert, Richard ;

James, Keith D. ;

Johnson, Brett E. ;

Johnson, Ericka M. ;

Frum, Tristan T. ;

Rosenzweig, Elizabeth R. ;

Karnani, Neerja ;

Lee, Kirsten ;

Lefebvre, Gregory C. ;

Navas, Patrick A. ;

Neri, Fidencio ;

Parker, Stephen C. J. ;

Sabo, Peter J. ;

Sandstrom, Richard ;

Shafer, Anthony .

NATURE, 2007, 447 (7146) :799-816

[10] The transcriptional landscape of the mammalian genome [J].

Carninci, P ;

Kasukawa, T ;

Katayama, S ;

Gough, J ;

Frith, MC ;

Maeda, N ;

Oyama, R ;

Ravasi, T ;

Lenhard, B ;

Wells, C ;

Kodzius, R ;

Shimokawa, K ;

Bajic, VB ;

Brenner, SE ;

Batalov, S ;

Forrest, ARR ;

Zavolan, M ;

Davis, MJ ;

Wilming, LG ;

Aidinis, V ;

Allen, JE ;

Ambesi-Impiombato, X ;

Apweiler, R ;

Aturaliya, RN ;

Bailey, TL ;

Bansal, M ;

Baxter, L ;

Beisel, KW ;

Bersano, T ;

Bono, H ;

Chalk, AM ;

Chiu, KP ;

Choudhary, V ;

Christoffels, A ;

Clutterbuck, DR ;

Crowe, ML ;

Dalla, E ;

Dalrymple, BP ;

de Bono, B ;

Della Gatta, G ;

di Bernardo, D ;

Down, T ;

Engstrom, P ;

Fagiolini, M ;

Faulkner, G ;

Fletcher, CF ;

Fukushima, T ;

Furuno, M ;

Futaki, S ;

Gariboldi, M .

SCIENCE, 2005, 309 (5740) :1559-1563

← 1 2 3 4 5 6 7 8 →