現(xiàn)在，由于已經(jīng)有了四種靈長類（獼猴,、紅猩猩,、黑猩猩和人類）的基因組序列，我們便有可能來構(gòu)建四種靈長類基因組的一個重復(fù)片段對比圖,。這項工作現(xiàn)已完成,，所獲得的圖被用來重建人類基因組所有重復(fù)片段的演化史。導(dǎo)致人類和非洲類人猿的先祖分支,，在如單堿基對突變等其他突變過程減速時,，其重復(fù)片段的積累速度增加了四倍。（生物谷Bioon.com）
生物谷推薦原始出處：
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.
