Most great ape genetic variation remains uncharacterized; however,\ud
its study is critical for understanding population history, recombination,\ud
selection and susceptibility to disease.Herewe sequence\ud
to high coverage a total of 79 wild- and captive-born individuals\ud
representing all six great ape species and seven subspecies and report\ud
88.8 million single nucleotide polymorphisms. Our analysis provides\ud
support for genetically distinct populations within each species,\ud
signals of gene flow, and the split of common chimpanzees\ud
into two distinct groups: Nigeria–Cameroon/western and central/\ud
eastern populations.We find extensive inbreeding in almost all wild\ud
populations, with eastern gorillas being the most extreme. Inferred\ud
effective population sizes have varied radically over timein different\ud
lineages and this appears to have a profound effect on the genetic\ud
diversity at, or close to, genes in almost all species. We discover and\ud
assign 1,982 loss-of-function variants throughout the human and\ud
great ape lineages, determining that the rate of gene loss has not\ud
been different in the human branch compared to other internal\ud
branches in the great ape phylogeny. This comprehensive catalogue\ud
of great ape genomediversity provides a framework for understanding\ud
evolution and a resource for more effective management of wild\ud
and captive great ape populations
The IMGT/HLA database (http://www.ebi.ac.uk/imgt/hla) has provided a centralized repository for the sequences of the alleles named by the WHO Nomenclature Committee for Factors of the HLA System for the past four years. Since its initial release the database has grown and is the primary source of information for the study of sequences of the human major histocompatibilty complex. The initial release of the database contained a limited number of tools. As a result of feedback from our users and developments in HLA we have been able to provide new tools and facilities. The HLA sequences have also been extended to include intron sequences and the 3' and 5' untranslated regions in the alignments and also the inclusion of new genes such as MICA. The IMGT/MHC database (http://www.ebi.ac.uk/imgt/mhc) was released in March 2002 to provide a similar resource for other species. The first release of IMGT/MHC contains the sequences of non-human primates (apes, new and old world monkeys), canines and feline sequences. Further species will be added shortly and the database aims to become the primary source of MHC data for non-human sequences.
Although present in both humans and chimpanzees, recombination hotspots, at which meiotic crossover events cluster, differ markedly in their genomic location between the species. We report that a 13-base pair sequence motif previously associated with the activity of 40% of human hotspots does not function in chimpanzees and is being removed by self-destructive drive in the human lineage. Multiple lines of evidence suggest that the rapidly evolving zinc-finger protein PRDM9 binds to this motif and that sequence changes in the protein may be responsible for hotspot differences between species. The involvement of PRDM9, which causes histone H3 lysine 4 trimethylation, implies that there is a common mechanism for recombination hotspots in eukaryotes but raises questions about what forces have driven such rapid change.
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