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
To broaden our understanding of human neurodevelopment, we profiled transcriptomic and epigenomic landscapes across brain regions and/or cell types for the entire span of prenatal and postnatal development. Integrative analysis revealed temporal, regional, sex, and cell type–specific dynamics. We observed a global transcriptomic cup-shaped pattern, characterized by a late fetal transition associated with sharply decreased regional differences and changes in cellular composition and maturation, followed by a reversal in childhood-adolescence, and accompanied by epigenomic reorganizations. Analysis of gene coexpression modules revealed relationships with epigenomic regulation and neurodevelopmental processes. Genes with genetic associations to brain-based traits and neuropsychiatric disorders (including MEF2C, SATB2, SOX5, TCF4, and TSHZ3) converged in a small number of modules and distinct cell types, revealing insights into neurodevelopment and the genomic basis of neuropsychiatric risks.
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