牦牛基因组结构变异研究进展  

Research Progress on Structural Variation of Yak Genome

作　　者：刘瑞林 徐东辉 李瑞哲 陈生梅[1,2,3] 马志杰 LIU Ruilin;XU Donghui;LI Ruizhe;CHEN Shengmei;MA Zhijie(Academy of Animal Science and Veterinary Medicine,Qinghai University,Xining 810016,China;Key Laboratory of Animal Genetics and Breeding on Tibetan Plateau,Ministry of Agriculture and Rural Affairs,Xining 810016,China;Plateau Livestock Genetic Resources Protection and Innovative Utilization Key Laboratory of Qinghai Province,Xining 810016,China)

机构地区：[1]青海大学畜牧兽医科学院,西宁810016 [2]农业农村部青藏高原畜禽遗传育种重点实验室,西宁810016 [3]青海省高原家畜遗传资源保护与创新利用重点实验室,西宁810016

出　　处：《中国草食动物科学》2024年第5期64-70,共7页China Herbivore Science

基　　金：青海省“昆仑英才·高端创新创业人才”计划(领军人才)项目。

摘　　要：基因组结构变异(Structural variation,SV)通常是指基因组内影响DNA序列长度或方向导致其发生变化的变异形式,包括缺失、插入、重复、易位和倒位。SV通过基因剂量效应和位置效应直接或间接影响基因的表达,进而导致物种发生表型变异。近10年来,随着全基因组重测序技术和高密度芯片技术的快速发展,牦牛基因组SV研究也取得了重要进展。本文就基因组SV类型、形成机制和检测方法进行阐释,并将近10年来牦牛基因组SV的研究现状进行了综述,以期为牦牛组学的深入研究、加快牦牛分子育种进程提供参考。Genomic structural variation(SV)typically refers to the forms of variation within the genome that affect the direction or length of DNA sequences,including deletions,insertions,duplications,translocations,and inversions.SV directly or indirectly affects gene expression through gene dose and position effects,leading to phenotypic variation in species.In the past decade,with the rapid development of whole genome resequencing technology and high-density chip technology,significant progress has been made in the research of yak genome SV.This article elaborated on the types,formation mechanisms,and detection methods of genomic SV,and reviewed the research status of yak genomic SV in the past 10 years,with the aim of providing reference for in-depth research on yak genomics and accelerating the molecular breeding process of yaks.

关 键 词：牦牛 基因组 结构变异 

分 类 号：S823.85[农业科学—畜牧学]