DNA replication timing and long-range DNA interactions predict mutational landscapes of cancer genomes

被引:126
作者
De, Subhajyoti [1 ,2 ]
Michor, Franziska [1 ,2 ]
机构
[1] Dana Farber Canc Inst, Dept Biostat & Computat Biol, Boston, MA 02115 USA
[2] Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA
关键词
COPY-NUMBER; GENES; REPAIR; RECOMBINATION; CHECKPOINT; EVOLUTION; DISEASE; POOLS; CELLS;
D O I
10.1038/nbt.2030
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 [微生物学]; 090105 [作物生产系统与生态工程];
摘要
Somatic copy-number alterations (SCNA) are a hallmark of many cancer types, but the mechanistic basis underlying their genome-wide patterns remains incompletely understood. Here we integrate data on DNA replication timing, long-range interactions between genomic material, and 331,724 SCNAs from 2,792 cancer samples classified into 26 cancer types. We report that genomic regions of similar replication timing are clustered spatially in the nucleus, that the two boundaries of SCNAs tend to be found in such regions, and that regions replicated early and late display distinct patterns of frequencies of SCNA boundaries, SCNA size and a preference for deletions over insertions. We show that long-range interaction and replication timing data alone can identify a significant proportion of SCNAs in an independent test data set. We propose a model for the generation of SCNAs in cancer, suggesting that data on spatial proximity of regions replicating at the same time can be used to predict the mutational landscapes of cancer genomes.
引用
收藏
页码:1103 / U119
页数:7
相关论文
共 32 条
[1]
[Anonymous], 1966, DESIGN EXPT
[2]
Integrated genomic analyses of ovarian carcinoma [J].
Bell, D. ;
Berchuck, A. ;
Birrer, M. ;
Chien, J. ;
Cramer, D. W. ;
Dao, F. ;
Dhir, R. ;
DiSaia, P. ;
Gabra, H. ;
Glenn, P. ;
Godwin, A. K. ;
Gross, J. ;
Hartmann, L. ;
Huang, M. ;
Huntsman, D. G. ;
Iacocca, M. ;
Imielinski, M. ;
Kalloger, S. ;
Karlan, B. Y. ;
Levine, D. A. ;
Mills, G. B. ;
Morrison, C. ;
Mutch, D. ;
Olvera, N. ;
Orsulic, S. ;
Park, K. ;
Petrelli, N. ;
Rabeno, B. ;
Rader, J. S. ;
Sikic, B. I. ;
Smith-McCune, K. ;
Sood, A. K. ;
Bowtell, D. ;
Penny, R. ;
Testa, J. R. ;
Chang, K. ;
Dinh, H. H. ;
Drummond, J. A. ;
Fowler, G. ;
Gunaratne, P. ;
Hawes, A. C. ;
Kovar, C. L. ;
Lewis, L. R. ;
Morgan, M. B. ;
Newsham, I. F. ;
Santibanez, J. ;
Reid, J. G. ;
Trevino, L. R. ;
Wu, Y. -Q. ;
Wang, M. .
NATURE, 2011, 474 (7353) :609-615
[3]
DNA replication in eukaryotic cells [J].
Bell, SP ;
Dutta, A .
ANNUAL REVIEW OF BIOCHEMISTRY, 2002, 71 :333-374
[4]
The landscape of somatic copy-number alteration across human cancers [J].
Beroukhim, Rameen ;
Mermel, Craig H. ;
Porter, Dale ;
Wei, Guo ;
Raychaudhuri, Soumya ;
Donovan, Jerry ;
Barretina, Jordi ;
Boehm, Jesse S. ;
Dobson, Jennifer ;
Urashima, Mitsuyoshi ;
Mc Henry, Kevin T. ;
Pinchback, Reid M. ;
Ligon, Azra H. ;
Cho, Yoon-Jae ;
Haery, Leila ;
Greulich, Heidi ;
Reich, Michael ;
Winckler, Wendy ;
Lawrence, Michael S. ;
Weir, Barbara A. ;
Tanaka, Kumiko E. ;
Chiang, Derek Y. ;
Bass, Adam J. ;
Loo, Alice ;
Hoffman, Carter ;
Prensner, John ;
Liefeld, Ted ;
Gao, Qing ;
Yecies, Derek ;
Signoretti, Sabina ;
Maher, Elizabeth ;
Kaye, Frederic J. ;
Sasaki, Hidefumi ;
Tepper, Joel E. ;
Fletcher, Jonathan A. ;
Tabernero, Josep ;
Baselga, Jose ;
Tsao, Ming-Sound ;
Demichelis, Francesca ;
Rubin, Mark A. ;
Janne, Pasi A. ;
Daly, Mark J. ;
Nucera, Carmelo ;
Levine, Ross L. ;
Ebert, Benjamin L. ;
Gabriel, Stacey ;
Rustgi, Anil K. ;
Antonescu, Cristina R. ;
Ladanyi, Marc ;
Letai, Anthony .
NATURE, 2010, 463 (7283) :899-905
[5]
Comprehensive genomic characterization defines human glioblastoma genes and core pathways [J].
Chin, L. ;
Meyerson, M. ;
Aldape, K. ;
Bigner, D. ;
Mikkelsen, T. ;
VandenBerg, S. ;
Kahn, A. ;
Penny, R. ;
Ferguson, M. L. ;
Gerhard, D. S. ;
Getz, G. ;
Brennan, C. ;
Taylor, B. S. ;
Winckler, W. ;
Park, P. ;
Ladanyi, M. ;
Hoadley, K. A. ;
Verhaak, R. G. W. ;
Hayes, D. N. ;
Spellman, Paul T. ;
Absher, D. ;
Weir, B. A. ;
Ding, L. ;
Wheeler, D. ;
Lawrence, M. S. ;
Cibulskis, K. ;
Mardis, E. ;
Zhang, Jinghui ;
Wilson, R. K. ;
Donehower, L. ;
Wheeler, D. A. ;
Purdom, E. ;
Wallis, J. ;
Laird, P. W. ;
Herman, J. G. ;
Schuebel, K. E. ;
Weisenberger, D. J. ;
Baylin, S. B. ;
Schultz, N. ;
Yao, Jun ;
Wiedemeyer, R. ;
Weinstein, J. ;
Sander, C. ;
Gibbs, R. A. ;
Gray, J. ;
Kucherlapati, R. ;
Lander, E. S. ;
Myers, R. M. ;
Perou, C. M. ;
McLendon, Roger .
NATURE, 2008, 455 (7216) :1061-1068
[6]
DNA secondary structures and epigenetic determinants of cancer genome evolution [J].
De, Subhajyoti ;
Michor, Franziska .
NATURE STRUCTURAL & MOLECULAR BIOLOGY, 2011, 18 (08) :950-U115
[7]
A census of human cancer genes [J].
Futreal, PA ;
Coin, L ;
Marshall, M ;
Down, T ;
Hubbard, T ;
Wooster, R ;
Rahman, N ;
Stratton, MR .
NATURE REVIEWS CANCER, 2004, 4 (03) :177-183
[8]
Evaluating genome-scale approaches to eukaryotic DNA replication [J].
Gilbert, David M. .
NATURE REVIEWS GENETICS, 2010, 11 (10) :673-684
[9]
Sequencing newly replicated DNA reveals widespread plasticity in human replication timing [J].
Hansen, R. Scott ;
Thomas, Sean ;
Sandstrom, Richard ;
Canfield, Theresa K. ;
Thurman, Robert E. ;
Weaver, Molly ;
Dorschner, Michael O. ;
Gartler, Stanley M. ;
Stamatoyannopoulos, John A. .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2010, 107 (01) :139-144
[10]
Mechanisms of change in gene copy number [J].
Hastings, P. J. ;
Lupski, James R. ;
Rosenberg, Susan M. ;
Ira, Grzegorz .
NATURE REVIEWS GENETICS, 2009, 10 (08) :551-564