Complete sequencing of ape genomes

2025/04/09 by DongAhn Yoo, Arang Rhie, Prajna Hebbar +97 · 1 voice · 16 citations
Biochemistry, Genetics and Molecular Biology · Agricultural and Biological Sciences · Psychology · #Genomics and Phylogenetic Studies #Chromosomal and Genetic Variations #Primate Behavior and Ecology

paper · pdf · doi:10.1038/s41586-025-08816-3

Abstract

. Consequently, our understanding of the evolution of our species is incomplete. Here we present haplotype-resolved reference genomes and comparative analyses of six ape species: chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan and siamang. We achieve chromosome-level contiguity with substantial sequence accuracy (<1 error in 2.7 megabases) and completely sequence 215 gapless chromosomes telomere-to-telomere. We resolve challenging regions, such as the major histocompatibility complex and immunoglobulin loci, to provide in-depth evolutionary insights. Comparative analyses enabled investigations of the evolution and diversity of regions previously uncharacterized or incompletely studied without bias from mapping to the human reference genome. Such regions include newly minted gene families in lineage-specific segmental duplications, centromeric DNA, acrocentric chromosomes and subterminal heterochromatin. This resource serves as a comprehensive baseline for future evolutionary studies of humans and our closest living ape relatives.

Citations

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Discussions

• A project five years in the making, we've now published complete "T2T" genomes for six additional ape species! It turns out that finishing (and analyzing) six genomes is slightly more work than one... [bsky, 155 points, 5 comments]

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