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.g., , , and gene families) and additional lineage-specific genes are generated (e.g., , , , and paralogs), becoming targets of rapid chromosomal diversification and positive selection (e.g., gene family). High-fidelity long-read sequencing has made these dynamic regions of the genome accessible for sequence-level analyses within and between primate species.

中文翻译：

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灵长类基因组的结构分歧和经常突变的区域

我们使用多种长读长测序技术对黑猩猩、倭黑猩猩、大猩猩、猩猩、长臂猿、猕猴、鸮猴和狨猴的基因组进行了测序和组装。我们鉴定了 1,338,997 个谱系特异性固定结构变异 (SV)，破坏了 1,561 个蛋白质编码基因和 136,932 个调控元件，包括最完整的人类特异性固定差异集。我们估计，在灵长类动物的进化过程中，819.47 Mbp 或约 27% 的基因组受到 SV 的影响。我们鉴定了 1,607 个结构上不同的区域，其中反复出现的结构变异有助于产生 SV 热点，其中基因反复丢失（例如，、、和基因家族），并生成额外的谱系特异性基因（例如，、、、和旁系同源物），成为快速染色体多样化和正选择（例如基因家族）。高保真长读长测序使基因组的这些动态区域可用于灵长类动物物种内部和之间的序列水平分析。