High-resolution comparative analysis of great ape genomes.

Science 2018 06;360(6393)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.

Genetic studies of human evolution require high-quality contiguous ape genome assemblies that are not guided by the human reference. We coupled long-read sequence assembly and full-length complementary DNA sequencing with a multiplatform scaffolding approach to produce ab initio chimpanzee and orangutan genome assemblies. By comparing these with two long-read de novo human genome assemblies and a gorilla genome assembly, we characterized lineage-specific and shared great ape genetic variation ranging from single- to mega-base pair-sized variants. We identified ~17,000 fixed human-specific structural variants identifying genic and putative regulatory changes that have emerged in humans since divergence from nonhuman apes. Interestingly, these variants are enriched near genes that are down-regulated in human compared to chimpanzee cerebral organoids, particularly in cells analogous to radial glial neural progenitors.

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Source
http://www.sciencemag.org/lookup/doi/10.1126/science.aar6343
Publisher Site
http://dx.doi.org/10.1126/science.aar6343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6178954PMC
June 2018
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