Structurally divergent and recurrently mutated regions of primate genomes.
Journal
bioRxiv : the preprint server for biology
Titre abrégé: bioRxiv
Pays: United States
ID NLM: 101680187
Informations de publication
Date de publication:
07 Mar 2023
07 Mar 2023
Historique:
pubmed:
23
3
2023
medline:
23
3
2023
entrez:
22
3
2023
Statut:
epublish
Résumé
To better understand the pattern of primate genome structural variation, we sequenced and assembled using multiple long-read sequencing technologies the genomes of eight nonhuman primate species, including New World monkeys (owl monkey and marmoset), Old World monkey (macaque), Asian apes (orangutan and gibbon), and African ape lineages (gorilla, bonobo, and chimpanzee). Compared to the human genome, we identified 1,338,997 lineage-specific fixed structural variants (SVs) disrupting 1,561 protein-coding genes and 136,932 regulatory elements, including the most complete set of human-specific fixed differences. Across 50 million years of primate evolution, we estimate that 819.47 Mbp or ~27% of the genome has been affected by SVs based on analysis of these primate lineages. We identify 1,607 structurally divergent regions (SDRs) wherein recurrent structural variation contributes to creating SV hotspots where genes are recurrently lost (
Identifiants
pubmed: 36945442
doi: 10.1101/2023.03.07.531415
pmc: PMC10028934
pii:
doi:
Types de publication
Preprint
Langues
eng
Subventions
Organisme : NHGRI NIH HHS
ID : U41 HG010972
Pays : United States
Organisme : NIAID NIH HHS
ID : R01 AI137011
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG010169
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG009081
Pays : United States
Organisme : NIGMS NIH HHS
ID : K99 GM147352
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG010485
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG002385
Pays : United States
Organisme : NIH HHS
ID : P51 OD011092
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010961
Pays : United States
Organisme : NIDA NIH HHS
ID : DP1 DA046108
Pays : United States
Déclaration de conflit d'intérêts
Competing interests E.E.E. is a scientific advisory board (SAB) member of Variant Bio, Inc. The other authors declare no competing interests.
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