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
Affected mutation carriers with CTLA-4 insufficiency can present in any medical specialty. Family members should be counseled because disease manifestation can occur as late as 50 years of age. EBV- and cytomegalovirus-associated complications must be closely monitored. Treatment interventions should be coordinated in clinical trials.
Our closest living relatives, chimpanzees and bonobos, have a complex demographic history. We have analyzed the high-coverage whole genomes of 75 wild-born chimpanzees and bonobos from ten countries in Africa. We find that chimpanzee population sub-structure makes genetic information a good predictor of geographic origin at country and regional scales. Most strikingly, multiple lines of evidence suggest that gene flow occurred from bonobos into the ancestors of central and eastern chimpanzees between 200 and 550 thousand years ago (Kya), probably with subsequent spread into Nigeria-Cameroon chimpanzees. Together with another possibly more recent contact (after 200 Kya), bonobos contributed less than 1% to the central chimpanzee genomes. Admixture thus appears to have been widespread during hominid evolution.
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