Yafei Mao, William T Harvey, David Porubsky, Katherine M Munson, Kendra Hoekzema, Alexandra P Lewis, Peter A Audano, Allison Rozanski, Xiangyu Yang, Shilong Zhang, DongAhn Yoo, David S Gordon, Tyler Fair, Xiaoxi Wei, Glennis A Logsdon, Marina Haukness, Philip C Dishuck, Hyeonsoo Jeong, Ricardo Del Rosario, Vanessa L Bauer, Will T Fattor, Gregory K Wilkerson, Yuxiang Mao, Yongyong Shi, Qiang Sun, Qing Lu, Benedict Paten, Trygve E Bakken, Alex A Pollen, Guoping Feng, Sara L Sawyer, Wesley C Warren, Lucia Carbone, Evan E Eichler
We sequenced and assembled using multiple long-read sequencing technologies the genomes of chimpanzee, bonobo, gorilla, orangutan, gibbon, macaque, owl monkey, and marmoset. 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. We estimate that 819.47 Mbp or ∼27% of the genome has been affected by SVs across primate evolution. We identify 1,607 structurally divergent regions wherein recurrent structural variation contributes to creating SV hotspots where genes are recurrently lost (e...
February 23, 2024: Cell