دورية أكاديمية

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

التفاصيل البيبلوغرافية
العنوان: A burst of segmental duplications in the genome of the African great ape ancestor
المؤلفون: Marqués-Bonet, Tomàs, Kidd, Jeffrey M., Ventura, Mario, Graves, Tina A., Cheng, Ze, Hillier, LaDeana W., Jiang, Zhaoshi, Baker, Carl, Malfavon-Borja, Ray, Fulton, Lucinda A., Alkan, Can, Aksay, Gozde, Girirajan, Santhosh, Siswara, Priscillia, Chen, Lin, Cardone, Maria Francesca, Navarro, Arcadi, Mardis, Elaine R., Wilson, Richard K., Eichler, Evan E.
بيانات النشر: Nature Publishing Group
سنة النشر: 2009
المجموعة: Digital.CSIC (Consejo Superior de Investigaciones Científicas / Spanish National Research Council)
الوصف: 5 pages, 4 figures.-- Supplementary information (3 files) available at: http://www.nature.com/nature/journal/v457/n7231/suppinfo/nature07744.htmlTest ; It is generally accepted that the extent of phenotypic change between human and great apes is dissonant with the rate of molecular change. Between these two groups, proteins are virtually identical, cytogenetically there are few rearrangements that distinguish ape–human chromosomes, and rates of single-base-pair change and retrotransposon activity 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 lineage. Here, we perform a systematic analysis of duplication content of four primate genomes (macaque, orangutan, 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. ; This work was supported, in part, by an NIH grant HG002385 to E.E.E. and NIH grant U54 HG003079 to R.K.W. and E.R.M. INB is a platform of Genoma España. T.M.-B. is supported by a Marie Curie fellowship and by Departament d'Educació i Universitats de la Generalitat de Catalunya. E.E.E. is an ...
نوع الوثيقة: article in journal/newspaper
وصف الملف: 751182 bytes; application/pdf
اللغة: English
تدمد: 0028-0836
1476-4687
العلاقة: http://dx.doi.org/10.1038/nature07744Test; Nature 457(7231): 877-881 (2009); http://hdl.handle.net/10261/10644Test
DOI: 10.1038/nature07744
الإتاحة: https://doi.org/10.1038/nature07744Test
http://hdl.handle.net/10261/10644Test
حقوق: none
رقم الانضمام: edsbas.FBCE016E
قاعدة البيانات: BASE
الوصف
تدمد:00280836
14764687
DOI:10.1038/nature07744