Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Department of Biology, University of Bari, Bari, Italy.
Nature. 2021 Jun;594(7861):77-81. doi: 10.1038/s41586-021-03519-x. Epub 2021 May 5.
The divergence of chimpanzee and bonobo provides one of the few examples of recent hominid speciation. Here we describe a fully annotated, high-quality bonobo genome assembly, which was constructed without guidance from reference genomes by applying a multiplatform genomics approach. We generate a bonobo genome assembly in which more than 98% of genes are completely annotated and 99% of the gaps are closed, including the resolution of about half of the segmental duplications and almost all of the full-length mobile elements. We compare the bonobo genome to those of other great apes and identify more than 5,569 fixed structural variants that specifically distinguish the bonobo and chimpanzee lineages. We focus on genes that have been lost, changed in structure or expanded in the last few million years of bonobo evolution. We produce a high-resolution map of incomplete lineage sorting and estimate that around 5.1% of the human genome is genetically closer to chimpanzee or bonobo and that more than 36.5% of the genome shows incomplete lineage sorting if we consider a deeper phylogeny including gorilla and orangutan. We also show that 26% of the segments of incomplete lineage sorting between human and chimpanzee or human and bonobo are non-randomly distributed and that genes within these clustered segments show significant excess of amino acid replacement compared to the rest of the genome.
黑猩猩和倭黑猩猩的分化提供了少数近期人科物种形成的例子之一。在这里,我们描述了一个完全注释、高质量的倭黑猩猩基因组组装,该组装是通过应用多平台基因组学方法构建的,而没有参考基因组的指导。我们生成了一个倭黑猩猩基因组组装,其中超过 98%的基因完全注释,99%的缺口被封闭,包括大约一半的片段重复和几乎所有全长移动元件的分辨率。我们将倭黑猩猩基因组与其他大型猿类的基因组进行比较,确定了超过 5569 个固定的结构变异,这些变异专门区分了倭黑猩猩和黑猩猩谱系。我们关注的是在过去几百万年的倭黑猩猩进化中丢失、结构改变或扩增的基因。我们生成了一个不完全谱系分选的高分辨率图谱,并估计在人类基因组中,大约有 5.1%的基因在遗传上更接近黑猩猩或倭黑猩猩,如果我们考虑包括大猩猩和猩猩在内的更深的系统发育,那么超过 36.5%的基因组显示不完全谱系分选。我们还表明,人类与黑猩猩或人类与倭黑猩猩之间不完全谱系分选的 26%的片段是非随机分布的,并且这些聚类片段中的基因与基因组的其余部分相比,氨基酸替换的显著过剩。