Complete sequencing of ape genomes.


Journal

bioRxiv : the preprint server for biology
ISSN: 2692-8205
Titre abrégé: bioRxiv
Pays: United States
ID NLM: 101680187

Informations de publication

Date de publication:
31 Jul 2024
Historique:
medline: 12 8 2024
pubmed: 12 8 2024
entrez: 12 8 2024
Statut: epublish

Résumé

We present haplotype-resolved reference genomes and comparative analyses of six ape species, namely: chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan, and siamang. We achieve chromosome-level contiguity with unparalleled sequence accuracy (<1 error in 500,000 base pairs), completely sequencing 215 gapless chromosomes telomere-to-telomere. We resolve challenging regions, such as the major histocompatibility complex and immunoglobulin loci, providing more in-depth evolutionary insights. Comparative analyses, including human, allow us to investigate the evolution and diversity of regions previously uncharacterized or incompletely studied without bias from mapping to the human reference. This includes newly minted gene families within lineage-specific segmental duplications, centromeric DNA, acrocentric chromosomes, and subterminal heterochromatin. This resource should serve as a definitive baseline for all future evolutionary studies of humans and our closest living ape relatives.

Identifiants

pubmed: 39131277
doi: 10.1101/2024.07.31.605654
pmc: PMC11312596
pii:
doi:

Types de publication

Journal Article Preprint

Langues

eng

Auteurs

Classifications MeSH