美国华盛顿大学Evan E. Eichler等研究人员合作报道改进后的猕猴基因组。这一研究成果于2020年12月18日发表在国际学术期刊《科学》上。

研究人员报道了一个更新的参考基因组装配（Mmul_10，contig N50 = 46 Mbp），该序列组可将序列连续性提高120倍，并使用650万个全长转录本对其进行注释，从而提高了人们对基因含量、同工型多样性和重复组织的理解。随着片段重复的装配改进，研究人员发现了新的谱系特异性基因和扩展的基因家族，这些基因可能在进化和疾病易感性研究中提供有用的信息。

来自853只猕猴的全基因组测序（WGS）数据确定了8570万个单核苷酸变体（SNV）和1,050万个插入缺失变体，包括与人类自闭症和发育迟缓相关的潜在破坏性变体，为开发非侵入性非人类灵长类动物（NHP）人类疾病模型提供了框架。

据介绍，猕猴（Macaca mulatta）是生物医学研究中研究最广泛的NHP。

附：英文原文

Title: Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility

Author: Wesley C. Warren, R. Alan Harris, Marina Haukness, Ian T. Fiddes, Shwetha C. Murali, Jason Fernandes, Philip C. Dishuck, Jessica M. Storer, Muthuswamy Raveendran, LaDeana W. Hillier, David Porubsky, Yafei Mao, David Gordon, Mitchell R. Vollger, Alexandra P. Lewis, Katherine M. Munson, Elizabeth DeVogelaere, Joel Armstrong, Mark Diekhans, Jerilyn A. Walker, Chad Tomlinson, Tina A. Graves-Lindsay, Milinn Kremitzki, Sofie R. Salama, Peter A. Audano, Merly Escalona, Nicholas W. Maurer, Francesca Antonacci, Ludovica Mercuri, Flavia A. M. Maggiolini, Claudia Rita Catacchio, Jason G. Underwood, David H. O’Connor, Ashley D. Sanders, Jan O. Korbel, Betsy Ferguson, H. Michael Kubisch, Louis Picker, Ned H. Kalin, Douglas Rosene, Jon Levine, David H. Abbott, Stanton B. Gray, Mar M. Sanchez, Zsofia A. Kovacs-Balint, Joseph W. Kemnitz, Sara M. Thomasy, Jeffrey A. Roberts, Erin L. Kinnally, John P. Capitanio

Issue&Volume: 2020/12/18

Abstract: The rhesus macaque (Macaca mulatta) is the most widely studied nonhuman primate (NHP) in biomedical research. We present an updated reference genome assembly (Mmul_10, contig N50 = 46 Mbp) that increases the sequence contiguity 120-fold and annotate it using 6.5 million full-length transcripts, thus improving our understanding of gene content, isoform diversity, and repeat organization. With the improved assembly of segmental duplications, we discovered new lineage-specific genes and expanded gene families that are potentially informative in studies of evolution and disease susceptibility. Whole-genome sequencing (WGS) data from 853 rhesus macaques identified 85.7 million single-nucleotide variants (SNVs) and 10.5 million indel variants, including potentially damaging variants in genes associated with human autism and developmental delay, providing a framework for developing noninvasive NHP models of human disease.

DOI: 10.1126/science.abc6617

Source: https://science.sciencemag.org/content/370/6523/eabc6617