A burst of segmental duplications in the genome of the African great ape ancestor

Tomas Marques-Bonet, Jeffrey M. Kidd, Mario Ventura, Tina A. Graves, Ze Cheng, LaDeana W. Hillier, Zhaoshi Jiang, Carl Baker, Ray Malfavon-Borja, Lucinda A. Fulton, Can Alkan, Gozde Aksay, Santhosh Girirajan, Priscillia Siswara, Lin Chen, Maria Francesca Cardone, Arcadi Navarro, Elaine R. Mardis, Richard K. Wilson and Evan E. Eichler ()
Additional contact information
Tomas Marques-Bonet: University of Washington and the Howard Hughes Medical Institute, Seattle, Washington 98195, USA
Jeffrey M. Kidd: University of Washington and the Howard Hughes Medical Institute, Seattle, Washington 98195, USA
Mario Ventura: University of Bari
Tina A. Graves: Genome Sequencing Center, Washington University School of Medicine, St Louis, Missouri 63108, USA
Ze Cheng: University of Washington and the Howard Hughes Medical Institute, Seattle, Washington 98195, USA
LaDeana W. Hillier: Genome Sequencing Center, Washington University School of Medicine, St Louis, Missouri 63108, USA
Zhaoshi Jiang: University of Washington and the Howard Hughes Medical Institute, Seattle, Washington 98195, USA
Carl Baker: University of Washington and the Howard Hughes Medical Institute, Seattle, Washington 98195, USA
Ray Malfavon-Borja: University of Washington and the Howard Hughes Medical Institute, Seattle, Washington 98195, USA
Lucinda A. Fulton: Genome Sequencing Center, Washington University School of Medicine, St Louis, Missouri 63108, USA
Can Alkan: University of Washington and the Howard Hughes Medical Institute, Seattle, Washington 98195, USA
Gozde Aksay: University of Washington and the Howard Hughes Medical Institute, Seattle, Washington 98195, USA
Santhosh Girirajan: University of Washington and the Howard Hughes Medical Institute, Seattle, Washington 98195, USA
Priscillia Siswara: University of Washington and the Howard Hughes Medical Institute, Seattle, Washington 98195, USA
Lin Chen: University of Washington and the Howard Hughes Medical Institute, Seattle, Washington 98195, USA
Maria Francesca Cardone: University of Bari
Arcadi Navarro: Institut de Biologia Evolutiva (UPF-CSIC), 08003 Barcelona, Catalonia, Spain
Elaine R. Mardis: Genome Sequencing Center, Washington University School of Medicine, St Louis, Missouri 63108, USA
Richard K. Wilson: Genome Sequencing Center, Washington University School of Medicine, St Louis, Missouri 63108, USA
Evan E. Eichler: University of Washington and the Howard Hughes Medical Institute, Seattle, Washington 98195, USA

Nature, 2009, vol. 457, issue 7231, 877-881

Abstract: Primate genomes: going ape With four primate genome sequences now available — macaque, orang-utan, chimpanzee and human — it has become possible to construct a comparative segmental duplication map of four primate genomes. This has now been done, and the resulting map used to reconstruct the evolutionary history of all human segmental duplications. The ancestral branch leading to humans and the African great apes shows a fourfold acceleration of segmental duplication accumulation at a time when other mutational processes such as single-base-pair mutation were slowing. This apparent burst of activity may be the result of a change in the effective population size or generation time, or imply a period of genomic destabilization.

Date: 2009
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DOI: 10.1038/nature07744

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