Large-scale copy number polymorphism in the human genome

Science

Volumn 305, Issue 5683, 2004, Pages 525-528

  Sebat, Jonathan ^a   Lakshmi, B ^a   Troge, Jennifer ^a   Alexander, Joan ^a   Young, Janet ^b   Lundin, Pär ^c   Månér, Susanne ^c   Massa, Hillary ^b   Walker, Megan ^b   Chi, Maoyen ^a   Navin, Nicholas ^a   Lucito, Robert ^a   Healy, John ^a   Hicks, James ^a   Ye, Kenny ^d   Reiner, Andrew ^a   Gilliam, T Conrad ^e   Trask, Barbara ^b   Patterson, Nick ^f   Zetterberg, Anders ^c   Wigler, Michael ^a   more..

^a Watson School of Biological Sciences   (United States)

^b Fred Hutchinson Cancer Research Center   (United States)

^c KAROLINSKA INSTITUTE   (Sweden)

^d Stony Brook   (United States)

^e The New York Presbyterian Hospital   (United States)

^f BROAD INSTITUTE OF MIT AND HARVARD   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIODIVERSITY; CELLS; DISEASES; GENES; GROWTH KINETICS; METABOLISM; NEUROLOGY;

CELL GROWTH; GENOMES; POLYMORPHISM;

GENETIC ENGINEERING;

BIOLOGY;

ARTICLE; CELL GROWTH; CONTROLLED STUDY; COPY NUMBER POLYMORPHISM; DNA MICROARRAY; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN GENOME; METABOLIC REGULATION; NERVOUS SYSTEM FUNCTION; PATHOGENESIS; PRIORITY JOURNAL;

ALLELES; BACTERIAL PROTEINS; CELL LINE, TRANSFORMED; CHROMOSOME ABERRATIONS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN; DEOXYRIBONUCLEASE HINDIII; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; FEMALE; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE FREQUENCY; GENOME, HUMAN; HUMANS; MALE; MARKOV CHAINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, GENETIC; VARIATION (GENETICS);

EID: 3242808027     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.1098918     Document Type: Article

References (29)

1. D. P. Locke et al., Genome Res. 13, 347 (2003).
2. K. A. Frazer et al., Genome Res. 13, 341 (2003).
3. G. Liu et al., Genome Res. 13, 358 (2003).
4. P. R. Buckland, Ann. Med. 35, 308 (2003).
5. R. Lucito et al., Genome Res. 13, 2291 (2003).
6. N. Lisitsyn, M. Wigler, Science 259, 946 (1993).
7. J. Healy, E. E. Thomas, J. T. Schwartz, M. Wigler, Genome Res. 13, 2306 (2003).
8. B. Materials and methods are available as supporting material on Science Online.
9. T. Blunt, F. Steers, G. Daniets, B. Carritt, Ann. Hum. Genet. 58, 19 (1994).
10. F. Gilles, A. Goy, Y. Remache, K. Manova, A. D. Zelenetz, Genomics 70, 364 (2000).
11. E. J. Hollox, J. A. Armour, J. C. Barber, Am. J. Hum. Genet. 73, 591 (2003).
12. J. K. Kulski, T. Shiina, T. Anzai, S. Kohara, H. Inoko, Immunol. Rev. 190, 9S (2002).
13. B. Riley, M. Williamson, D. Collier, H. Wilkie, A. Makoff, Genomics 79, 197 (2002).
14. J. R. Townson, L. F. Barcellos, R. J. Nibbs, Eur. J. Immunol. 32, 3016 (2002).
15. R. A. McLellan, M. Oscarson, J. Seidegard, D. A. Evans, M. Ingelman-Sundberg, Pharmacogenetics 7, 187 (1997).
16. Copy number gains are, by definition, recent segmental duplications. Not surprisingly, many of the duplications observed in this study overlap with regions that have been previously annotated as segmental duptications.
17. J. A. Bailey et al., Science 297, 1003 (2002).
18. C. J. Shaw, J. R. Lupski, Hum. Mol. Genet. 13 Spec, R57 (2004).
19. J. R. Lupski et al., Cell 66, 219 (1991).
20. P. F. Chance et al., Cell 72, 143 (1993).
21. J. Kolehmainen et al., Am. J. Hum. Genet. 72, 1359 (2003).
22. J. Shan et al., Gene 257, 67 (2000).
23. Y. Imai et al., Biochem. Biophys. Res. Commun. 252, 582 (1998).
24. A. Sainsbury et al., Genes Dev. 16, 1077 (2002).
25. N. Patterson, data not shown.
26. D. P. Locke et al., J. Med. Genet. 41, 175 (2004).
27. C. Shaw-Smith et al., J. Med. Genet. 41, 241 (2004).
28. A. S. Ishkanian et al., Nature Genet. 36, 299 (2004).
29. We thank E. Nuwaysir and T. Richmond (of Nimble-Gen Systems Inc.) and E. Thorolfsdottir and K. Olafsdottir (of LindGen Einkahlutafélag) for providing technical support; and E. Linardopoulou, L. lakoucheva, and J. Simons for helpful discussions. Supported by grants to M.W. from NIH and the National Cancer Institute (CA81674; CA078S44; HG02606), New York University/Defense Advanced Research Projects Agency (DARPA) F5239, Tularik Inc., 1 in 9: The Long Island Breast Cancer Action Coalition, Lillian Goldman and the Breast Cancer Research Foundation, Starr Foundation, Marks Family Foundation, The Miracle Foundation, and The Simons Foundation. M.W. is an American Cancer Society Research Professor. B.T. was supported by NIH grants (GM057070; DC004209). J.S. was supported by the NIH Training Grant (5T32; CA069311-25). A.Z. was supported by grants from the Swedish Cancer Society and Cancer-föreningen, Stockholm.