小柯机器人

美国华盛顿大学医学院教授Evan E. Eichler和意大利巴里巴里大学Mario Ventura合作取得最新进展。他们利用高质量的黑猩猩基因组完善了人类进化的分析。该研究于2021年5月5日发表于国际一流学术期刊《自然》杂志上。

他们描述了一个完全注释的高质量黑猩猩基因组组装体，该组装体无需参考基因组的指导即可通过应用多平台基因组学方法来构建。他们生成了一个黑猩猩基因组装配体，其中98％以上的基因被完全注释，99％的缺口被闭合，包括大约一半的节段重复的分辨率和几乎所有的全长移动元件。他们将黑猩猩的基因组与其他大猿猴的基因组进行比较，并鉴定出超过5569个固定的结构变异，这些变异专门区分了黑猩猩和大猿猴的血统。他们关注黑猩猩进化的最后几百万年中丢失、结构改变或扩展的基因。

他们生成了不完整谱系排序的高分辨率图，并估计人类基因组中约5.1％的基因在遗传上更接近于大猿猴或黑猩猩，如果考虑到更深的系统发育，包括大猩猩和黑猩猩，则超过36.5％的基因组显示不完整谱系排序。他们还显示，人与大猿猴或人与黑猩猩之间不完整谱系排序的片段中有26％是非随机分布的，与这些基因组的其余部分相比，这些群集片段中的基因显示出大量的氨基酸替代。

研究人员表示，黑猩猩和大猿猴的差异提供了近来人类原始物种的少数几个例子之一。

附：英文原文

Title: A high-quality bonobo genome refines the analysis of hominid evolution

Author: Yafei Mao, Claudia R. Catacchio, LaDeana W. Hillier, David Porubsky, Ruiyang Li, Arvis Sulovari, Jason D. Fernandes, Francesco Montinaro, David S. Gordon, Jessica M. Storer, Marina Haukness, Ian T. Fiddes, Shwetha Canchi Murali, Philip C. Dishuck, PingHsun Hsieh, William T. Harvey, Peter A. Audano, Ludovica Mercuri, Ilaria Piccolo, Francesca Antonacci, Katherine M. Munson, Alexandra P. Lewis, Carl Baker, Jason G. Underwood, Kendra Hoekzema, Tzu-Hsueh Huang, Melanie Sorensen, Jerilyn A. Walker, Jinna Hoffman, Franoise Thibaud-Nissen, Sofie R. Salama, Andy W. C. Pang, Joyce Lee, Alex R. Hastie, Benedict Paten, Mark A. Batzer, Mark Diekhans, Mario Ventura, Evan E. Eichler

Issue&Volume: 2021-05-05

Abstract: The divergence of chimpanzee and bonobo provides one of the few examples of recent hominid speciation1,2. 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 apes1,3,4,5 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.

DOI: 10.1038/s41586-021-03519-x

Source: https://www.nature.com/articles/s41586-021-03519-x

Nature：《自然》，创刊于1869年。隶属于施普林格·自然出版集团，最新IF：69.504
官方网址：http://www.nature.com/
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