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Comparative and demographic analysis of orang-utan genomes
Authors:Locke Devin P  Hillier LaDeana W  Warren Wesley C  Worley Kim C  Nazareth Lynne V  Muzny Donna M  Yang Shiaw-Pyng  Wang Zhengyuan  Chinwalla Asif T  Minx Pat  Mitreva Makedonka  Cook Lisa  Delehaunty Kim D  Fronick Catrina  Schmidt Heather  Fulton Lucinda A  Fulton Robert S  Nelson Joanne O  Magrini Vincent  Pohl Craig  Graves Tina A  Markovic Chris  Cree Andy  Dinh Huyen H  Hume Jennifer  Kovar Christie L  Fowler Gerald R  Lunter Gerton  Meader Stephen  Heger Andreas  Ponting Chris P  Marques-Bonet Tomas  Alkan Can  Chen Lin  Cheng Ze  Kidd Jeffrey M  Eichler Evan E  White Simon  Searle Stephen  Vilella Albert J  Chen Yuan
Institution:The Genome Center at Washington University, Washington University School of Medicine, 4444 Forest Park Avenue, Saint Louis, Missouri 63108, USA. dlocke@wustl.edu
Abstract:'Orang-utan' is derived from a Malay term meaning 'man of the forest' and aptly describes the southeast Asian great apes native to Sumatra and Borneo. The orang-utan species, Pongo abelii (Sumatran) and Pongo pygmaeus (Bornean), are the most phylogenetically distant great apes from humans, thereby providing an informative perspective on hominid evolution. Here we present a Sumatran orang-utan draft genome assembly and short read sequence data from five Sumatran and five Bornean orang-utan genomes. Our analyses reveal that, compared to other primates, the orang-utan genome has many unique features. Structural evolution of the orang-utan genome has proceeded much more slowly than other great apes, evidenced by fewer rearrangements, less segmental duplication, a lower rate of gene family turnover and surprisingly quiescent Alu repeats, which have played a major role in restructuring other primate genomes. We also describe a primate polymorphic neocentromere, found in both Pongo species, emphasizing the gradual evolution of orang-utan genome structure. Orang-utans have extremely low energy usage for a eutherian mammal, far lower than their hominid relatives. Adding their genome to the repertoire of sequenced primates illuminates new signals of positive selection in several pathways including glycolipid metabolism. From the population perspective, both Pongo species are deeply diverse; however, Sumatran individuals possess greater diversity than their Bornean counterparts, and more species-specific variation. Our estimate of Bornean/Sumatran speciation time, 400,000?years ago, is more recent than most previous studies and underscores the complexity of the orang-utan speciation process. Despite a smaller modern census population size, the Sumatran effective population size (N(e)) expanded exponentially relative to the ancestral N(e) after the split, while Bornean N(e) declined over the same period. Overall, the resources and analyses presented here offer new opportunities in evolutionary genomics, insights into hominid biology, and an extensive database of variation for conservation efforts.
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