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遗传 ›› 2022Vol. 44 ›› Issue (8): 635-654.doi: 10.16288/j.yczz.22-108

• 优博专栏 • 上一篇    下一篇

适应性演化的分子遗传机制：以高海拔适应为例

郝艳1雷富民1,2,3()   

  1. 1. 中国科学院动物研究所动物进化与系统学重点实验室,北京 100101
    2. 中国科学院大学生命科学学院,北京 100049
    3. 中国科学院动物进化与遗传前沿交叉卓越创新中心,昆明 650223
  • 收稿日期:2022-04-13 修回日期:2022-06-25 出版日期:2022-08-20 发布日期:2022-07-19
  • 通讯作者: 雷富民 E-mail:[email protected]
  • 作者简介:郝艳,博士,研究方向：鸟类适应性进化。E-mail: [email protected],2014—2020年就读于中国科学院动物研究所,在鸟类学研究组攻读博士学位,导师是雷富民研究员。目前在中国科学院动物研究所接受博士后训练,主要研究方向为鸟类对极端环境适应的分子机制。博士期间,在不同的鸟类演化体系中,采用比较基因组学、比较转录组学等研究方法,结合形态学等表型数据及功能实验验证,从位点、基因、基因家族、生物功能通路、基因表达等角度检测了鸟类对青藏高原极端环境适应的趋同和趋异信号,并探讨了鸟类适应演化的可能机制。已获得中国博士后科学基金一等面上资助项目、中国科学院特别研究助理资助项目、国家自然科学基金委青年科学基金项目及第七届中国科协青年人才托举工程项目。博士论文《三对近缘高低海拔雀形目鸟类的比较转录组学研究》获得2021年中国科学院优秀博士生论文。
  • 基金资助:
    国家自然科学基金项目编号(321003323213000355);第二次青藏高原综合科学考察研究项目编号(2019QZKK0304);青年人才托举工程项目编号(2021QNRC001);中国博士后科学基金资助编号(2021M700144)

Genetic mechanism of adaptive evolution: the example of adaptation to high altitudes

Yan Hao1Fumin Lei1,2,3()   

  1. 1. Key Laboratory of Zoological Systematics and EvolutionInstitute of ZoologyChinese Academy of SciencesBeijing 100101China
    2. College of Life SciencesUniversity of Chinese Academy of SciencesBeijing 100049China
    3. Center for Excellence in Animal Evolution and GeneticsChinese Academy of SciencesKunming 650223China
  • Received:2022-04-13 Revised:2022-06-25 Online:2022-08-20 Published:2022-07-19
  • Contact: Lei Fumin E-mail:[email protected]
  • Supported by:
    Supported by the National Natural Science Foundation of China Nos(321003323213000355);the Second Tibetan Plateau Scientific Expedition and Research (STEP) Program No(2019QZKK0304);the Young Elite Scientists Sponsorship Program by CAST No(2021QNRC001);the China Postdoctoral Science Foundation No(2021M700144)

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摘要：

自达尔文时代起,解析适应性演化的机制一直是进化生物学和生态学领域研究最重要的科学问题之一。适应性演化通常指在自然选择驱动下,物种为提高适合度而演化出特定的表型。表型的适应表现在形态、生理生化、组织学、行为学等多个层级。随着分子生物学和测序技术的发展,越来越多的研究揭示了适应性复杂性状的遗传基础。研究适应性演化的分子遗传机制有助于理解塑造生物多样性的进化驱动力以及阐明基因型、表型和环境之间的关联关系。目前已有主效基因、超基因、多基因遗传、非编码区调控、重复序列调控、基因渐渗等多种假说可以解释适应性演化的遗传机制。高海拔极端环境的强选择压力极大地促进了物种表型和遗传适应的发生,对多组学数据的剖析为物种适应性演化提供了新的见解。本文对适应性演化的遗传机制、高海拔极端环境适应研究进展以及目前面临的主要挑战进行了综述,并对未来的发展趋势进行了展望,以期为该领域的科研人员提供参考。

关键词: 表型 非编码区 多组学 调控 高海拔

Abstract:

Since Darwin’s timeelucidating the mechanism of adaptive evolution has been one of the most important scientific issues in evolutionary biology and ecology. Adaptive evolution usually means that species evolve special phenotypic traits to increase fitness under selective pressures. Phenotypic adaptation can be observed at different hierarchical levels of morphologyphysiologybiochemistryhistologyand behavior. With the breakthroughs of molecular biology and next-generation sequencing technologiesmounting evidence has uncovered the genetic architecture driving adaptive complex phenotypes. Studying the molecular genetic mechanisms of evolutionary adaption will enable us to understand the forces shaping biodiversity and set up genotype-phenotype-environment interactions. Genetic bases of adaptive evolution have been explained by multiple hypothesesincluding major-effect genessupergenespolygenicitynoncoding regionsrepeated regionsand introgression. The strong selection pressure exerted by high-altitude extreme environments greatly promotes the occurrence of phenotypic and genetic adaptation in species. Studies on multi-omics data provide new insights into adaptive evolution. In this reviewwe systematically summarize the genetic mechanism of adaptive evolutionresearch progress in adaptation to high-altitude environmental conditionsand existing challenges and discuss the future perspectivesthereby providing guidance for researchers in this field.

Key words: phenotype noncoding region multi-omics regulation high altitudes

图1

适应性演化遗传机制 A：主效基因假说;B：超基因假说;C：多基因遗传假说;D：非编码区调控假说;E：重复序列调控假说;F：基因渐渗假说。CRE：cis-regulatory element;TE：transposable element。"

表1

高海拔适应研究的典型实例汇总"

类群 物种 测序技术 主要支持的假说 参考文献
人类 藏人(Homo sapiens) Affymetrix 6.0 SNP Array 主效基因假说 [92,95]
藏人(Homo sapiens) Illumina 610-Quad Genotyping Array 主效基因假说 [93]
藏人(Homo sapiens) Affymetrix 6.0 SNP Array和Illumina HiSeq (resequencing和RNA-seq) 主效基因假说 [94]
藏人(Homo sapiens) Illumina CoreExome Array 主效基因假说 [96]
藏人(Homo sapiens) Illumina HiSeq (RNA-seq、ATAC-seq、Resequencing和Hi-C) 非编码区调控假说 [53]
藏人(Homo sapiens) Illumina HiSeq (resequencing) 基因渐渗假说 [116]
哺乳类 高原鼢鼠(Myospalax baileyi)和高原鼠兔(Ochotona curzoniae) Illumina HiSeq (whole-genome sequencing) 主效基因假说 [79]
牦牛(Bos grunniens) Illumina HiSeq (whole-genome sequencing) 多基因遗传假说 [97]
滇金丝猴(Rhinopithecus bieti)、怒江金丝猴(Rhinopithecus strykeri )和川金丝猴(Rhinopithecus roxellana) Illumina HiSeq (whole-genome sequencing、RNA-seq和resequencing) 多基因遗传假说 [98]
藏灰狼(Canis lupus chanco) Illumina HiSeq (resequencing) 多基因遗传假说 [99]
高原鼢鼠(Myospalax baileyi) Pacific Biosciences (PacBio) RS II (whole- genome sequencing)和Illumina HiSeq (whole- genome sequencing和resequencing) 多基因遗传假说 [80]
藏獒(Canis lupus familiaris) Illumina HiSeq (whole-genome sequencing) 基因渐渗假说 [117]
鸟类 地山雀(Pseudopodoces humilis) Illumina HiSeq (whole-genome sequencing) 多基因遗传假说 [100]
地山雀(Pseudopodoces humilis)、白眉山雀(Poecile superciliosus)、褐冠山雀(Lophophanes dichrous)和黑冠山雀(Periparus rubidiventris) Illumina HiSeq (resequencing) 多基因遗传假说 [101]
褐冠山雀(Lophophanes dichrous)、黑冠山雀(Periparus rubidiventris)和棕额长尾山雀(Aegithalos iouschistos) Illumina HiSeq (RNA-seq) 非编码区调控假说 [115]
白腰雪雀(Onychostruthus taczanowskii)、棕颈雪雀(Pyrgilauda ruficollis)和褐翅雪雀(Montifringilla adamsi) Illumina HiSeq (whole-genome sequencing) 多基因遗传假说 [85]
树麻雀(Passer montanus) Illumina HiSeq (whole-genome sequencing和resequencing) 多基因遗传假说 [43]
绿尾虹雉(Lophophorus lhuysii) Illumina HiSeq (whole-genome sequencing) 多基因遗传假说 [102]
黑颈鹤(Grus nigricollis) Oxford Nanopore Technologies (ONT) PromethION (whole-genome sequencing)和Illumina HiSeq (whole-genome sequencing) 多基因遗传假说 [103]
四川雉鹑(Tetraophasis szechenyii) Illumina HiSeq (whole-genome sequencing) 多基因遗传假说 [104]
鱼类 厚唇裸重唇鱼
(Gymnodiptychus pachycheilus)		 Illumina HiSeq (RNA-seq) 多基因遗传假说 [105]
达里湖高原鳅(Triplophysa dalaica)、拟鲶高原鳅(Triplophysa siluroides)和硬刺高原鳅(Triplophysa scleroptera) Illumina HiSeq (RNA-seq) 多基因遗传假说 [106,107]
两栖类 高山倭蛙(Nanorana parkeri) Illumina HiSeq (whole-genome sequencing) 多基因遗传假说 [108]
高山倭蛙(Nanorana parkeri)、棘臂蛙(Nanorana liebigii)和双团棘胸蛙(Nanorana phrynoides) Illumina HiSeq (RNA-seq) 多基因遗传假说 [109]
爬行类 青海沙蜥(Phrynocephalus vlangalii)、红尾沙蜥(Phrynocephalus erythrurus)和贵德沙蜥(Phrynocephalus putjatia) Illumina HiSeq (RNA-seq) 多基因遗传假说 [109]
温泉蛇(Thermophis baileyi)、四川温泉蛇(Thermophis zhaoermii)和香格里拉温泉蛇(Thermophis shangrila) Illumina HiSeq (whole-genome sequencing和resequencing) 多基因遗传假说 [110]
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