现在，由于已经有了四种灵长类（猕猴、红猩猩、黑猩猩和人类）的基因组序列，我们便有可能来构建四种灵长类基因组的一个重复片段对比图。这项工作现已完成，所获得的图被用来重建人类基因组所有重复片段的演化史。导致人类和非洲类人猿的先祖分支，在如单碱基对突变等其他突变过程减速时，其重复片段的积累速度增加了四倍。（生物谷Bioon.com）
生物谷推荐原始出处：
Nature 457, 877-881 (12 February 2009) | doi:10.1038/nature07744
A burst of segmental duplications in the genome of the African great ape ancestor
Tomas Marques-Bonet1,2, Jeffrey M. Kidd1, Mario Ventura3, Tina A. Graves4, Ze Cheng1, LaDeana W. Hillier4, Zhaoshi Jiang1, Carl Baker1, Ray Malfavon-Borja1, Lucinda A. Fulton4, Can Alkan1, Gozde Aksay1, Santhosh Girirajan1, Priscillia Siswara1, Lin Chen1, Maria Francesca Cardone3, Arcadi Navarro2,5, Elaine R. Mardis4, Richard K. Wilson4 & Evan E. Eichler1
1 Department of Genome Sciences, University of Washington and the Howard Hughes Medical Institute, Seattle, Washington 98195, USA
2 Institut de Biologia Evolutiva (UPF-CSIC), 08003 Barcelona, Catalonia, Spain
3 Sezione di Genetica-Dipartimento di Anatomia Patologica e Genetica, University of Bari, 70125 Bari, Italy
4 Genome Sequencing Center, Washington University School of Medicine, St Louis, Missouri 63108, USA
5 Institució Catalana de Recerca i Estudis Avan?ats (ICREA) and Instituto Nacional de Bioinformática (INB), Dr. Aiguader 88, 08003 Barcelona, Spain
It is generally accepted that the extent of phenotypic change between human and great apes is dissonant with the rate of molecular change1. Between these two groups, proteins are virtually identical1, 2, cytogenetically there are few rearrangements that distinguish ape–human chromosomes3, and rates of single-base-pair change4, 5, 6, 7 and retrotransposon activity8, 9, 10 have slowed particularly within hominid lineages when compared to rodents or monkeys. Studies of gene family evolution indicate that gene loss and gain are enriched within the primate lineage11, 12. Here, we perform a systematic analysis of duplication content of four primate genomes (macaque, orang-utan, chimpanzee and human) in an effort to understand the pattern and rates of genomic duplication during hominid evolution. We find that the ancestral branch leading to human and African great apes shows the most significant increase in duplication activity both in terms of base pairs and in terms of events. This duplication acceleration within the ancestral species is significant when compared to lineage-specific rate estimates even after accounting for copy-number polymorphism and homoplasy. We discover striking examples of recurrent and independent gene-containing duplications within the gorilla and chimpanzee that are absent in the human lineage. Our results suggest that the evolutionary properties of copy-number mutation differ significantly from other forms of genetic mutation and, in contrast to the hominid slowdown of single-base-pair mutations, there has been a genomic burst of duplication activity at this period during human evolution.
