生物多样性起源与进化研究进展
Advances on the origin and evolution of biodiversity
通讯作者: * E-mail:hzkong@ibcas.ac.cn
编委: 高连明
责任编辑: 李会丽
收稿日期: 2022-08-11 接受日期: 2022-09-22
基金资助: |
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Corresponding authors: * E-mail:hzkong@ibcas.ac.cn
Received: 2022-08-11 Accepted: 2022-09-22
生物多样性的起源与进化是生命科学领域最重要的科学问题之一。多组学数据的积累和相关分析技术的发展, 极大地推动了人们对生物多样性起源与进化的理解和研究, 使得阐明生物进化事件发生的过程与机制成为可能。值此《生物多样性》创刊30周年之际, 本文简要回顾生物多样性起源与进化相关研究在近年来取得的重要研究进展, 以期帮助读者了解该研究方向的发展现状。过去10年中, 生物多样性起源与进化相关研究在生命之树重建、生物多样性时空分布格局、物种概念、物种形成与适应性进化以及新性状起源与多样化等方面取得了许多重要进展, 并在此基础上厘清了许多分类单元间的系统发育关系、揭示了生物多样性分布格局的部分历史成因、提出了新的物种概念和物种形成模型、阐明了新性状和新功能发生的部分分子机制。我们认为, 更精准地重建生命之树、深入挖掘基因组数据以及多学科交叉融合将是今后生物多样性研究的主要趋势。
关键词:
Aims: The origin and evolution of biodiversity is one of the most important scientific questions in the field of life sciences. The accumulation of multi-omics data and the development of related analytical techniques have greatly promoted our understanding and research on the origin and evolution of biodiversity, thereby making it possible to clarify the processes and reveal the mechanisms of biological evolution events. On the occasion of the 30th Anniversary of the inaugural of Biodiversity Science, this paper briefly retrospects the important research progress of the origin and evolution of biodiversity in recent years, aiming to help the readers comprehend the present development on this topic.
Progresses: In the past decade, research on the origin and evolution of biodiversity has made many significant advancements, including the reconstruction of the tree of life, the spatiotemporal distribution pattern of biodiversity, the concepts of species, speciation, and adaptive evolution, and the origin and diversification of new characters. Based on these advancements, phylogenetic relationships among many taxa were clarified; some historical causes of biodiversity distribution patterns were revealed; some new species concepts and speciation models were proposed; and some molecular mechanisms of new characters and functions were revealed.
Prospect: We believe that the more accurate reconstruction of the tree of life, in-depth mining of genomic data, and the multidisciplinary integration would be the main trends in biodiversity research.
Keywords:
本文引用格式
薛成, 李波卡, 雷天宇, 山红艳, 孔宏智 (2022)
Cheng Xue, Boka Li, Tianyu Lei, Hongyan Shan, Hongzhi Kong (2022)
2021年, 我国作为主席国成功举办了《生物多样性公约》第十五次缔约方大会(COP15)第一阶段会议。国家主席习近平在会议中提出: “生物多样性使地球充满生机, 也是人类生存和发展的基础。保护生物多样性有助于维护地球家园, 促进人类可持续发展”。今年是我国作为主席国参与COP15第二阶段会议的关键一年, 也是《生物多样性》创刊30周年。在此, 我们应主编邀请, 重点回顾生物多样性起源与进化领域近10年来的重要进展, 展望未来的研究重点, 为今后生物多样性科学研究、保护与合理利用提供参考。
生物多样性是指生物组织在各个层面的变化, 通常包括3个组成部分, 即遗传多样性(genetic diversity)、物种多样性(species diversity)和生态系统多样性(ecosystem diversity), 是地球生命经历几十亿年进化的结果(Gaston & Spicer, 2004; Ge, 2017)。生物多样性的起源与进化一直是生物学家关注的重要基础科学问题, 对该问题的研究可以为生物多样性的保护和合理利用提供理论依据。过去10年, 生物多样性的起源与进化研究得到了突飞猛进的发展。随着测序技术和分析手段的不断进步, 传统学科借助大规模组学数据, 解析了地球生物多样性的格局和形成机制, 探究了重要生物学进化事件的过程与机制。同时, 多学科的交叉融合, 极大推动了与生物多样性研究相关学科(如分子系统学、生态与进化发育生物学、遗传学和基因组学等)的蓬勃发展, 从多方面提升了人们对生物多样性起源与进化的认识。
本文基于生物多样性起源与进化相关高水平研究成果, 简要回顾国内外近10年的研究进展。这些研究进展可概括为以下4个方面: (1)生命之树重建; (2)生物多样性时空分布格局; (3)物种概念与物种形成; (4)新性状起源与多样化。在此基础上, 我们展望了本领域未来的研究趋势。由于资料收集和篇幅所限, 难免存在疏漏, 敬请同行谅解。
1 生命之树重建
重建各个生物类群的生命之树是探究生物多样性起源和进化历史的基础。在以往的系统发育分析中, 由于所用分子片段数量较少、遗传变异信息分辨率较低以及取样不足等原因, 许多分类阶元之间的系统发育关系并未被研究清楚。近10年来, 二代、三代测序技术的爆发式发展, 降低了测序成本, 增加了测序序列的读长与准确度; 大量分析软件(如Trinity、IQtree和ASTRAL等)的开发与普及, 提升了科研人员的分析效率; 标本DNA的提取, 拓展了分类阶元的研究尺度。这些技术的进步使科研人员能够在广泛取样的基础上, 利用高质量、低成本的基因组序列以及准确、高效的分析技术, 厘清快速进化、已灭绝和分类困难类群的系统发育关系。
绿色植物约有50万种, 是地球生物多样性的重要组成部分。“千种植物转录组计划” (One Thousand Plant Transcriptomes Initiative)团队利用1,124个物种的转录组数据, 构建了绿色植物可靠的系统发育关系, 揭示了各大类群进化过程中基因家族发生的变化, 为探究绿色植物进化和理解植物多样性提供了非常重要的系统发育基因组框架(One Thousand Plant Transcriptomes Initiative, 2019)。作为绿色植物中生物多样性最为丰富的类群, 被子植物的系统发育关系受到众多研究组关注。例如, 被子植物系统发育研究组(angiosperm phylogeny group, APG)在APG III分类系统的基础上, 于2016年发布了APG IV分类系统。该分类系统将被子植物划分为63个目, 416个科(The Angiosperm Phylogeny Group, 2016), 但仍有一些目、科级之间的系统发育关系不明确。为此, 李德铢研究组利用2,881个质体基因组的80个基因构建了被子植物质体基因组系统发育树(plastid phylogenomic angiosperm tree, PPA tree) (Li et al, 2019)。其后, 该团队又在PPA tree的基础上, 利用4,792个质体基因组的80个基因构建了2,024属4,660个物种的被子植物质体基因组系统发育树II (PPA II tree) (Li et al, 2021), 使目级及以上和科级水平具有高支持率的分支节点比例分别达到了75%和78%。这些研究成果为植物的起源与进化研究提供了重要参考。
高通量的基因组和转录组数据在各大动物类群的系统发育研究中也得到了广泛应用。例如, 在鸟类生命之树重建过程中, Jarvis等(2014)利用48种鸟类全基因组数据, 解析了新鸟下纲的系统发育关系。后来, Prum等(2015)通过对鸟纲198种鸟类全基因组测序, 得到了一个更为全面的鸟纲系统发育树。Feng等(2020)在科级水平分析了363种鸟类基因组数据, 得到了更加完善的鸟类基因组进化图谱, 同时强调了高密度物种取样对生物多样性研究的重要性。此外, 还有一些其他动物类群的生命之树得到了重建。例如, Duchêne等(2018)利用基因组数据重建了有袋类动物18个科的系统发育关系。He等(2022)解析了凤蝶科11个代表物种的高质量参考基因组, 再结合之前发表的蝴蝶基因组数据, 重建了凤蝶科族水平可靠的系统发育树。Misof等(2014)利用昆虫纲144个物种转录组数据重建昆虫纲系统发育关系, 为昆虫的进化研究提供了全面可靠的依据。
病毒不同于动植物, 它的进化速度极快。自2019年新冠病毒爆发以来, 随着感染人数的增多, 新冠病毒快速分化出多种株系。Tang等(2021)通过对121,618个高质量病毒基因组分析, 将新冠病毒划分为130个亚谱系。他们发现这些谱系在不同地域的分布式样不同, 可为病例病原的分子溯源提供依据。Ruan等(2022)通过分析全球200多万个新冠病毒基因组数据, 鉴定出5个主要的毒株“突变群”, 并发现新冠病毒的进化速度会随着感染人数的增加显著加快。因此, 重建病毒进化树, 探明病毒谱系发生历史, 对揭示各个谱系的时空分布规律、理解病原体变异规律、预测病毒进化方向和指导病毒防疫工作具有重要意义。
对标本中遗传信息的挖掘有助于推衍物种进化过程以及重建祖先物种或已经灭绝类群的进化历史。例如, Ní Leathlobhair等(2018)利用9,000年前北美和西伯利亚犬科物种标本的71份线粒体和7份核基因组序列, 重建了北美地区狗的进化历史。研究发现北美地区的狗并非源于北美地区的狼, 而可能起源于西伯利亚地区的狗, 并随人类一起迁移到北美地区。Daly等(2018)通过对旧石器时代到中世纪时期近东地区(the Near East)山羊属(Capra)物种的83只古代野山羊基因组研究发现, 不同的古代野山羊分别被驯化, 它们在遗传和地理上存在差异, 这与同时期不同分布区的人类差异一致。de Manuel等(2020)通过对20个已灭绝或现存狮子(Panthera leo)的基因组数据解析, 揭示了狮子的系统发育关系以及现存狮子的种群动态历史, 为狮子的保护工作提供了重要参考。
此外, 研究人员近年来还对大量分类困难类群的系统发育关系进行了重建。例如, 植物类群的蔷薇科(Zhang et al, 2017)、毛茛科(Zhai et al, 2019)、豆科(Zhao et al, 2021)、菊科(Zhang et al, 2021)和早熟禾亚科(Zhang L et al, 2022); 动物类群的灵长目(Pozzi et al, 2014)、真蝶总科(Espeland et al, 2018)和果蝇属(Drosophila) (Li F et al, 2022)以及真菌的叶上衣属(Strigula) (Jiang SH et al, 2020)等。这些高质量生命之树的重建, 为准确探究生物多样性起源和进化历史, 以及生物多样性保护与合理利用奠定了坚实基础。
2 生物多样性时空分布格局
对生物多样性时空分布格局及其成因的探究是理解生物起源和多样化的关键。然而, 生物多样性的分布并不均一, 在时间和空间上差异分布(Pérez-Escobar et al, 2017)。例如, 在被子植物层面, 陈之端研究组通过重建我国26,978种被子植物的生命之树, 揭示了我国被子植物多样性进化的时空动态格局。研究发现, 我国66%的被子植物在中新世早期之后开始起源, 草本植物比木本植物的分化速度更快。同时, 我国东、西部被子植物的分布格局存在显著差异。东部地区为湿润、半湿润气候, 其谱系比西部更古老, 是植物区系的“博物馆”。其中, 华东地区同时是木本植物的“博物馆”和“摇篮”。而西部地区为干旱和半干旱气候, 其谱系相对年轻, 是草本植物进化的“摇篮” (Lu et al, 2018)。与大多数遵循纬度多样性梯度分布模式的物种不同, 松属(Pinus)植物大多分布于北半球的中纬度地区。为了探究这一独特分布模式的成因和机制, 汪小全研究组通过对全球112种松属植物的时空进化历史研究, 发现中纬度地区可能是松属植物进化的“博物馆”, 地形在其物种多样化过程中发挥了重要作用。同时, 历史上的火灾可能促进了松属植物的多样化和适应性进化(Jin et al, 2021)。
在动物相关研究中, Hu等(2021)基于3个遗传标记构建了我国2,461种陆生脊椎动物的系统发育树, 发现基于线粒体基因标记的陆生脊椎动物遗传多样性、物种多样性和系统发育多样性之间存在正相关关系。通过进一步研究系统发育多样性的空间分布格局, 他们发现南方部分区域具有较高的系统发育多样性和较早的物种分化时间, 是陆生脊椎动物多样性进化的“博物馆”; 而横断山脉区域具有较低的系统发育多样性和较晚的物种分化时间, 是陆生脊椎动物多样性进化的“摇篮”。以上研究不仅揭示了生物多样性分布格局的历史成因, 也为不同生境类型的生物多样性保护提供了重要理论基础。
地球上有35个生物多样性热点地区, 虽然它们的总面积仅占陆地面积的17.3%, 但是却拥有全球50%以上的植物和77%的陆地脊椎动物(Mittermeier et al, 2011; Marchese, 2015)。已有研究表明, 生物多样性热点地区的物种形成与造山运动和古气候变化有关, 它们是造就不均匀生物多样性格局的主要因素(Smith et al, 2014; Pérez-Escobar et al, 2017; Xing & Ree, 2017; Zhao et al, 2019)。例如, 南美洲安第斯山脉的多次快速隆升, 以及生物频繁迁移扩散, 推动了当地兰科植物的多样化(Pérez-Escobar et al, 2017)。在西藏-喜马拉雅-横断山地区, 造山运动以及印度洋季风、东亚季风推动了现存高山植物祖先类群在中新世早期到中期的多样化(Ding et al, 2020), 而喜马拉雅-横断山在中新世晚期至上新世早期的持续隆升, 以及同时期气温快速下降, 又促进了当地栎属(Quercus)植物的多样化(Meng et al, 2017)。
恶劣生境对于生物具有极强的选择压力。了解生物适应极端生境的过程与机制, 对于理解生物多样性的起源和进化至关重要。鸟类在进化过程中发生了3次大规模地扩张, 其多样性的产生主要与气候变化和白垩纪-古近纪灭绝事件有关(Yu et al, 2021)。例如, 企鹅作为在约6,000万年前失去飞行能力的鸟类, 随后演化出潜泳能力, 并适应了南极的极端环境。Cole等(2022)通过对27种近代灭绝和现存企鹅类群的基因组数据、47种地理数据以及企鹅化石和现存企鹅类群的形态数据分析发现, 企鹅在白垩纪生物大灭绝之后, 即约6,500万年前, 起源于Zealandia (西兰大陆); 受地质变迁和气候波动影响, 企鹅祖先类群随着洋流逐渐扩散到了南极洲和南半球其他主要大陆的南部海岸。这一过程中, 南极-南美大陆桥的断开、环南极洋流的形成以及第四纪冰期等地质事件促进了企鹅的物种分化, 奠定了现今企鹅的物种分布格局。
东亚亚热带的喀斯特地区具有丰富的洞穴系统, 孕育了大量特有生物类群。王伟研究组对绿色植物、动物和真菌等洞穴生物代表类群的系统发育和古环境变化动态的分析表明, 约88%的东亚亚热带洞穴生物定殖事件发生在渐新世-中新世边界之后, 来自洞穴附近的森林生物是洞穴生物多样性的主要来源。同时, 生物定殖并不是随机的过程, 而是与地质、古气候以及亚热带常绿阔叶林演变相关。该研究提出的“气候-植被-孑遗”模型有助于解释其他中纬度地区地下生物区系的起源, 同时为洞穴生物多样性保护提供了重要参考(Li XQ et al, 2022)。乌叶猴属(Trachypithecus)的石山叶猴(T. francoisi)种组物种在演化过程中获得了适应喀斯特特殊生境的能力。Liu Z等(2020)通过对乌叶猴属9种23个个体全基因组重测序分析, 揭示了乌叶猴属3个物种组的进化历史与种群动态历史, 发现石山叶猴种群数量减少与冰期有关。进一步研究表明, 石山叶猴的正选择基因富集于与钙离子信号代谢相关通路, 这可能与其对喀斯特生境的适应有关。该研究为人们理解灵长类动物在适应恶劣环境中的基因-环境相互作用以及生理-形态适应机制提供了新的认识。
冰川作为地球极端寒冷生境的代表, 蕴藏了具有很高遗传和代谢多样性的低温微生物。Liu Q等(2021)通过对中国4个冰川中47株黄杆菌属 (Flavobacterium)物种的色素鉴定、基因组和转录组分析、遗传和生理分析, 发现光照能够促进大多数菌株在缺氧或营养缺乏条件下生长; 其促进作用与玉米黄质等色素的合成有关, 而色素可以为其提供光保护、维持低温下细胞膜功能等作用。该研究不仅强调了色素在黄杆菌属物种适应冰川表层环境以及种群扩散的重要意义, 而且揭示了光照在冰川表层生态系统中的重要作用, 为研究恶劣环境中生物多样性维持机制提供了范例。
3 物种概念、物种形成与适应性进化
合理的物种划分对生物多样性的评估、保护和可持续利用至关重要。然而, 传统的物种概念或在实践中难以操作、或带有主观因素、或概念本身过于抽象, 并不利于物种的划分(Hong, 2020)。近年来, 国内外学者在大量分类学研究的基础上, 提出了一系列新的、更科学的、更具有可操作性的物种划分标准或者定义, 如由刘建全提出的整合物种概念(The Integrative Species Concept) (刘建全, 2016)、由洪德元提出的基因-形态物种概念(The Gen-Morph Species Concept) (Hong, 2020)以及由Seifert提出的基因和基因表达物种概念(The Gene and Gene Expression (GAGE) Species Concept) (Seifert, 2020)。特别值得一提的是, 基因-形态物种概念在吸收传统物种概念精髓的基础上, 强调综合使用多种证据(如分子、形态和地理证据)进行物种分类, 并提出了物种划分的具体形态学标准。这些新物种概念的提出为科学、简便地划分物种提供了依据, 也为真正认识、有效保护和可持续利用生物多样性提供了理论指导。
物种形成是物种多样性的首要来源(Schluter & Pennell, 2017)。物种形成过程中所涉及的大量遗传变异和性状的获得与丢失, 是连接宏观(高阶元分类群)进化和微观(种群内部和种群之间)进化的桥梁(Ge, 2017)。研究物种形成的过程和机制能够揭示地球上生物多样性的进化过程, 以及由此产生的式样(Coyne & Orr, 2004)。平行物种形成是一种特殊的物种形成模式。为了探究该现象背后的机制, 葛颂研究组通过对野生稻的两个近缘种Oryza nivara和O. rufipogon进行物种形成研究。他们发现, 不同分布区的O. nivara多次独立起源于O. rufipogon的不同居群; 祖先群体在歧化选择(divergent selection)作用下平行进化出了相似的表型; 其开花时间的改变是种间生殖隔离的关键, 同时也促进了O. nivara祖先类群对干旱环境的适应(Cai et al, 2019)。该研究为理解生物适应新环境、深入探讨物种形成机制提供了典型案例。
杂交在植物和动物的物种形成过程中扮演了重要角色。在植物中, 由杂交引起的异源多倍化可以直接导致物种形成, 并提高植物适应恶劣气候环境的潜力(Hu et al, 2021; Wu et al, 2022)。刘建全研究组通过比较沙漠分布的沙芥属(Pugionium)植物沙芥(P. cornutum)和斧翅沙芥(P. dolabratum)的基因组, 发现该属最近共同祖先是由两个染色体数量和结构均不同的祖先谱系在经历一次异源多倍化事件后形成的。进一步的群体遗传研究表明, 虽然基因流在两个种的进化过程中持续发生, 但重组染色体中的基因却快速进化,从而导致了两个种的分化(Hu et al, 2021)。该研究强调了多倍体驱动的染色体结构变异在物种分化过程中的重要意义。
在动物中, 杂交可以在种间转移有益性状, 帮助其适应不同环境。例如, 袖蝶属(Heliconius)蝴蝶通过杂交所形成的式样丰富的翅膀颜色, 促进了该属的物种形成和适应性辐射进化。通过对该属物种基因组测序分析, 研究人员发现控制拟态模式的基因组区域在3个共拟态物种间发生交换, 推测袖蝶属混居地的近缘种间会交换保护性颜色式样的基因, 说明了杂交在袖蝶属物种适应性辐射进化过程中的重要作用(Heliconius Genome Consortium, 2012)。
近年来, 大量研究发现基因流广泛存在于物种形成过程中。气候的周期性波动可能会影响地理屏障的周期性消失与出现, 进而引起生物居群间基因流的产生与中断(Xue et al, 2021; Wu et al, 2022)。例如, 施苏华和吴仲义研究团队通过对马六甲海峡红树林进行群体遗传学研究, 发现气候周期性波动会导致马六甲海峡周期性的开放或关闭, 进而导致红树在进化过程中经历多次的地理隔离与混合, 但每次混合不会消弭原有的物种分化。在多次的隔离-混合循环中, 物种的分化程度逐渐积累, 最终完成物种形成。他们据此提出了新的物种形成模型: 混合-隔离-混合循环(Mixing-Isolation-Mixing Cycles, MIM) (He et al, 2019)。该模型为理解伴随基因流的物种形成与多样化过程提供了新的视角, 也证明间断的基因流并不一定会阻碍物种形成过程中的物种分化。
微生物的物种形成过程受多种因素及其相互作用的影响。其中, 地理和生态是2个比较重要的外部因素, 但它们在驱动微生物物种形成过程中的相对重要性尚不清楚。链霉菌属(Streptomyces)是一种广泛分布的细菌, 其生境类型丰富, 可以产生多种抗生素, 具有很高的应用价值。为探究该属在全球范围地理和生态尺度上的物种形成原因, Wang等(2022)通过对不同大洲/大洋不同生境类型(土壤、海洋和昆虫)的橄榄色链霉菌(Streptomyces olivaceus)菌株基因组展开研究, 发现这些菌株可以分为2个与生境和地理相关的进化谱系, 谱系间基因流存在障碍; 基因组上存在多个与生境显著相关的谱系特异性基因或基因簇, 而且谱系间的适合度差异与相关功能基因分布高度吻合。该研究推测生境障碍是导致谱系分化的主要原因, 并最终促进了新物种的形成。
适应性进化是物种分化的重要机制之一。在植物和动物适应性进化过程中, 相似的选择压力可能会导致近缘类群在基因组上发生平行或趋同的响应。例如, 在植物进化研究中, 施苏华研究组通过对16种红树物种全基因组水平趋同进化分析, 鉴定到73个趋同进化的基因, 部分基因与耐盐功能相关; 进一步研究发现, 相比于陆生植物, 红树植物趋同地改变了9种氨基酸的使用频率, 这有助于其适应高盐、动荡且营养贫瘠的海岸潮间带环境(He et al, 2020)。
飞行赋予了鸟类极大的生存优势, 但飞行能力的退化在现存鸟类中多次发生。前人研究发现飞行退化鸟类在形态和生理上存在差异, 但它们对现存鸟类多次发生飞行退化事件的贡献和潜在的遗传机制尚不清楚。Pan等(2019)通过对40种飞行鸟类和8种飞行退化鸟类的基因组进行比较分析, 发现2个与能量代谢相关基因位点在飞行退化鸟类中趋同进化。模型模拟表明, 飞行退化鸟类的主要能量来源于由脂质转换而来的碳水化合物, 而碳水化合物能更快产生能量, 可能更适合飞行退化鸟类的短时奔跑或短时爆发性飞行。该研究认为生理趋同而非形态趋同在鸟类飞行退化中起着重要作用, 为鸟类趋同进化研究提供了新的思路。
生物适应性进化过程可以是连续的, 祖先类群在获得适应性性状后, 其后代进一步将其完善。雪雀(snowfinches)复合体起源于青藏高原地区, 包含在形态、生态位和行为方面存在特异分化的3个属。Qu等(2021)通过整合表型、基因组和功能试验数据, 发现雪雀复合体的祖先类群在迁移到高海拔地区后, 进化出较大体型这一适应性表型, 并在其3个后代物种分化过程中进一步进化出物种特异的体型。通过对受到强烈选择的功能基因DTL (该基因功能为修复紫外线导致的DNA损伤)进行功能验证, 作者发现雪雀复合体的DNA损伤修复活性明显提升, 但祖先与后代的DNA损伤活性存在差异。这进一步表明雪雀复合体经历了共同祖先的初始适应后, 其后代物种又经历了不同的适应性过程。该研究揭示了祖先适应对后代物种适应性进化的影响, 为探讨生物适应性进化过程提供了新案例和新见解。
生物适应性进化过程也可以是极快发生的。普通小麦(Triticum aestivum)起源于新月沃地(The Fertile Crescent)核心区域, 在极短时间(约一万年)内便扩散到全球, 并成功适应了自然环境和人类粮食方面的需求, 但其遗传机制尚不清楚。Zhou等(2020)通过小麦属(Triticum)和山羊草属(Aegilops) 25个亚种的全基因组测序分析, 发现小麦野生群体的混合渐渗对普通小麦基因组的贡献极大。这增加了普通小麦的遗传多样性, 使其具有更广泛的适应能力。同时, 人工选择使小麦属物种在全基因组水平产生趋同进化特征, 例如控制穗轴性状的Btr1基因被反复选择。该研究为小麦适应性进化背后的遗传驱动力提供了新的见解。
水平基因转移(horizontal gene transfer, HGT)在生物适应性进化过程中扮演了重要角色。Cheng等(2019)解析了2种双星藻纲藻类的全基因组, 并通过对细菌、真菌、动物、原生生物、藻类和有胚植物的基因组数据比较分析, 发现部分基因仅由这2种双星藻纲植物和土壤细菌共享。进一步研究确认2个关键基因GRAS和PYL是绿色植物祖先基因组通过HGT从土壤细菌中获得的。这2个基因与植物的生长、发育、抗逆、固氮等重要生理过程有关, 表明HGT可能促进了陆地植物的登陆。Li Y等(2022)通过对218种昆虫基因组水平的比较分析, 发现它们之间存在大量、多次的功能基因水平转移。此外, 他们发现越早获得的HGT基因, 其基因结构与昆虫本身的基因结构越相似, 更可能在昆虫基因组上保留。最后, 基因功能研究发现通过HGT获得的基因加强了鳞翅目昆虫雄性求偶行为。该研究表明, HGT可能是昆虫适应的主要贡献者。这些研究揭示了HGT在生物适应性进化过程中扮演的重要角色, 为探究物种起源提供了新的思路和实际案例。
4 新性状起源与多样化
新性状起源是生物进化的标志, 也是生物从简单到复杂进化的基础和形态结构多样化形成的关键。纵观生物进化历史, 生物演化出了一系列的新性状或新功能, 如被子植物的花、比目鱼的扁平体型、动物的回声定位系统和呼吸系统等等。这些性状的产生极大提升了生物的适应能力。近年来, 随着遗传学、分子生物学、进化发育生物学和基因组学的不断发展, 人们对生物进化的过程和机制有了更加深入的认识, 揭示了一系列重要性状起源和进化的分子机制。
花是被子植物的关键创新性状。它的起源和多样化不仅促进了被子植物的起源和繁盛, 而且深刻改变了陆地生态系统的格局。近年来, 国际上对花起源和基本结构多样化机制的研究主要可以概况为3个方面。首先, 通过解析被子植物最基部物种无油樟(Amborella trichopoda)的基因组和深入的基因组进化研究, 研究人员发现, 现存被子植物在起源之前发生过一次全基因组加倍事件, 且大量与开花有关的重要基因谱系在此之前就已经形成, 表明花的起源与已有基因家族成员的招募有关(Amborella Genome Project, 2013)。其次, 前人通过对花发育MADS-box基因进化历史和蛋白互作关系的进化研究发现, 在被子植物起源前后, 参与花器官身份决定的MADS-box基因在数目和类型上显著增加, 它们所编码蛋白之间的互作关系呈现先增后减的进化式样(Li et al, 2015; Ruelens et al, 2017)。最后, 研究人员通过对多样性极为丰富的毛茛科植物进行研究发现, 毛茛科大多数无花瓣分支中花瓣的丢失是由雄蕊身份基因AGAMOUS1 (AG1)的表达外扩造成的, 而花瓣身份基因APETALA3-3 (AP3-3)的丢失、沉默或表达下调是结果而非原因(Zhang et al, 2013; Duan et al, 2020); 花器官螺旋状排列时器官数目不固定则与花器官发生过程的时空动态、花器官身份基因表达边界的可塑性和花器官身份基因间复杂的调控关系有关(Wang et al, 2016)。特别值得一提的是, 在已有研究基础上, Shan等(2019)首次从发育程序改变的角度系统阐释了花在器官数目、类型、排列方式、形状、结构、颜色和气味等方面多样化的原因和机制, 提出“四个主要发育程序的改变导致花的多样化”的观点, 为未来开展花的发育和进化研究提供了重要指导。
花瓣是花中最吸引人的部分, 具有复杂多样的形态和结构, 在动-植物相互作用中扮演了重要角色(Fu et al, 2022)。近年来, 我们研究组聚焦毛茛科黑种草属(Nigella)植物, 已将其发展成研究复杂花瓣的模式体系。基于形态和发育研究, 我们发现花瓣的复杂化是逐步发生的, 既涉及新性状(如假蜜腺、二唇形花瓣、柄、上唇和二裂下唇等)的从头起源, 也涉及对已有性状的修饰和改造(Yao et al, 2019)。通过比较转录组-表达谱分析及表达和功能研究, 我们鉴定出复杂花瓣必需的基因程序, 发现对已有基因和程序的重新招募是复杂花瓣形成和相关新性状起源的关键(Liao et al, 2020; Zhang et al, 2020)。此外, 毛茛科耧斗菜属(Aquilegia)植物也是研究复杂花瓣的理想体系。近年来, 国际上多个团队围绕该属植物的新性状(花瓣蜜距)发生和发育的分子机制进行了研究, 不仅鉴定出一批与距发生和发育相关的候选基因(如POP、ARF6和ARF8等), 而且发现在花瓣身份基因AqAP3-3靶基因中, 与花瓣身份决定直接相关的基因在进化上高度保守, 而参与特有性状(如距、蜜腺、表皮毛和花瓣颜色)形成的基因则在进化上不保守(Ballerini et al, 2020; Jiang Y et al, 2020; Zhang et al 2020)。这些研究提升了人们对花瓣新性状起源与复杂化过程和机制的认识。
四足动物的四肢具有支撑、奔跑、攀爬和自卫等功能。Hox基因在四足动物四肢的起源过程中具有关键作用, 缺乏Hoxa13和Hoxd13的小鼠会丢失手腕和手指(Fromental-Ramain et al, 1996)。而对模式生物斑马鱼(Danio rerio)的研究发现, 敲除Hox13的斑马鱼鳍条发育受到影响, 鳍条缩短, 软骨增多(Nakamura et al, 2016)。这些研究表明指骨和鳍条共享部分发育过程, 四足动物的四肢起源于远端细胞命运的转变。类似地, Armisén等(2015)发现半翅目水黾科昆虫足的发育过程中, Hox基因家族Ubx基因的表达与gilt基因的表达呈负相关。水黾的中足和后足形态差异是Ubx基因通过调节gilt基因的差异表达形成的。这最终导致了水黾长中足的起源, 研究人员进一步研究发现该性状有助于水黾躲避捕食者。
在海洋动物中, 鲽形目鱼类具有扁平、不对称的体型, 从而适应了海底生存。Lü等(2021)通过对其基因组比较分析发现, 基因组中许多与缺氧耐受性、抗肌肉萎缩、视觉感知和心脏功能相关的基因发生了显著变异, 进而导致与鲽形目鱼类适应海底生存环境相关性状的转变。同时, 他们进一步研究发现, 在涉及动物体型不对称发育的信号通路中, 鲽形目鱼类基因组WNT (Wingless-Type MMTV Integration Site Family)和RA (retinoic acid)信号通路的多个基因序列上发生了显著的改变。同时, 两个信号通路中的一些基因在多个器官的发育过程中左右不对称表达。这些都共同表明WNT和RA信号通路相关基因的变异推动了鲽形目鱼类不对称体型的进化(Lü et al, 2021)。
反刍亚目动物进化出了瘤胃、网胃、瓣胃和皱胃, 这些发达的消化器官赋予其更高的食物利用率与更复杂的食物结构。王文研究团队通过对44种反刍动物比较基因组分析, 发现多室胃起源于食道, 皱胃相关基因的表达式样与小肠更为相似。此外, 他们还探究了鹿科动物一系列新性状起源的分子机制。例如, 驯鹿(Rangifer tarandus)生物节律的改变可能与PER2基因突变有关, 该性状有助于适应北极与亚北极地区极长的光周期; 长颈鹿FGFRL1基因存在独特变异, 利用小鼠对该基因进行功能验证, 经过基因编辑的小鼠表现出抗高血压的能力和高的骨密度, 这两个性状都与长颈鹿对高身高的适应紧密相关(Chen et al, 2019; Lin et al, 2019; Wang et al, 2019; Liu Q et al, 2021)。
回声定位是动物(如蝙蝠、鲸鱼)进行导航、觅食等活动的一种定向行为。这一适应性特征赋予相关物种黑暗条件下识别物体和定向导航的能力。有意思的是, 一项最近的研究发现回声定位能力可能也存在于猪尾鼠属(Typhlomys)动物中。He等(2021)对该属物种开展行为学、解剖学、基因组学以及功能实验研究发现, 它们具有在黑暗中躲避障碍物的行为、具有与蝙蝠相似的解剖学特征、具有与其他具备回声定位能力的哺乳动物趋同的听力相关基因(如Prestin)。这些发现证实了该属物种的确具有回声定位能力, 表明复杂的适应性表型背后可能具有相似的分子机制。
人类在不同生境中逐渐进化出多样的适应性表型。东南亚土著居民是生活在热带雨林中的狩猎-采集者, 具有矮身高、深肤色、卷曲头发和宽扁鼻翼等特点。Zhang X等(2022)通过对柬埔寨81名土著居民进行全基因组深度测序, 并与其他人类基因组比较发现, 柬埔寨土著居民基因组中有1,187个受选择的基因组区域, 其中就包括与卷发(TCHH和TCHHL1)、鼻子形态(PAX3)以及身高(如ENTPD1-AS1)相关的基因。这些基因的变异可能最终导致了柬埔寨土著居民适应性表型的产生。进一步研究发现, 东南亚土著居民的受选择位点与具有相似表型的非洲狩猎-采集人群不同, 表明东南亚土著的适应性表型可能是独立起源的。该项研究为探索人类表型多样化的进化模式和遗传机制提供了全新思路。
农作物的农艺性状往往是一系列与生产有关的特征性状, 具有重要经济价值。泛基因组图谱的应用为许多农艺性状分子机制的挖掘提供了新工具(Liu Y et al, 2020; Qin et al, 2021; Zhou et al, 2022)。例如, 黄三文研究团队在解析二倍体马铃薯泛基因组图谱的基础上, 通过多组学比较分析, 鉴定到一个与薯块发育相关的TCP转录因子Identity of Tuber 1 (IT1)及其互作基因, 并通过CRISPR/Cas9实验证实了该基因的功能。同时, 基于大片段倒位图谱的构建, 发现马铃薯3号染色体5.8 Mb倒位事件与控制块茎中类胡萝卜素积累的基因紧密连锁, 并且在自交后代中该区域重组率显著降低。该研究为二倍体马铃薯的育种改良提供了重要见解(Tang et al, 2022)。
在物种大爆发过程中, 祖先基因多态性被随机分选到不同物种中, 从而造成非近缘种间具有相同的基因型, 但不完全谱系分选(incomplete lineage sorting, ILS)是否会影响性状的起源与进化尚不清楚。Feng等(2022)通过对南美有袋类哺乳动物南猊(Dromiciops gliroides)及其他有袋类动物的基因组解析, 发现这些有袋类物种存在大量的ILS。进一步对有强ILS信号的基因筛选和CRISPR/Cas9实验验证发现, ILS可以在南猊及其非姐妹类群间产生相似的形态表型。该研究表明不同类群间相似性状的产生可能是祖先多态性随机遗传的结果。
新性状形成过程往往涉及一系列基因的创新和招募, 尤其是一些保守基因多次参与生物的进化过程, 并发挥了重要作用(Müller, 2007)。例如, 在动物登陆过程中涉及了一系列新性状和新功能的起源, 从原始的辐鳍鱼类到肺鱼再到四足动物, 它们在登陆过程中逐步获得和招募了一系列与陆地适应特征(肺表面活性物质、抗焦虑能力、五指肢和咽部重塑等)相关的基因, 如新基因Sftpc和招募的基因Slc34a2促进了四足动物呼吸能力的进化, 帮助其适应陆生环境(Meyer et al, 2021; Wang et al, 2021)。再比如, Nagel等(2020)通过对法老蚁(Pharaoh ant)行为、大脑结构以及基因表达调控研究, 找到了蚁后角色转变过程中可能起推动作用的关键基因。进一步研究发现, 蚁后的生殖角色转变相关基因模块同样参与了生殖工蚁角色转变的调控, 表明这些基因模块在进化过程中被重新应用于生殖工蚁的形成。相似的研究还有很多。这一系列令人振奋的成果体现出基因组数据对于新性状起源与多样化研究的巨大推动作用, 也为进一步深入探究生物适应性进化的过程与机制提供了新的观点和研究模式。
5 展望
过去10年, 国内外学者在生物多样性起源与进化研究领域取得了极大的进展。利用新思想和新方法, 科研人员重建了各个分类阶元的生命之树, 厘清了许多分类困难类群的亲缘关系; 探究了生物多样性的时空分布格局, 揭示了生物对环境的适应机制; 提出了物种分类的新概念, 探索了物种形成的过程与机制; 解析了新性状起源与重要进化事件发生的过程和机制。这些研究成果既是现今科学领域的前沿, 又是未来研究的突破方向和发展基石。然而, 要真正认识生物多样性起源与进化的过程和机制, 仍需要更深入细致的研究进行探索。综合近10年来的研究发展, 我们认为将来生物多样性研究可以聚焦在以下几个方面:
(1)更精准地重建生命之树。基因流广泛存在于物种形成过程中, 只有通过更全面的取样、更多的基因序列分析, 才能获得更精准的生命之树, 为性状演化和生物多样性时空格局研究提供支撑。
(2)深入挖掘基因组数据。利用大量已发表和将要发表的基因组数据, 深度挖掘生物多样性起源和进化的奥秘。特别值得一提的是, 近年来启动的众多国际合作计划为全球生物基因组的解析提供了助力。其中, 最大的项目地球生物基因组计划(Earth BioGenome Project)旨在10年内对约150万种真核生物进行基因组测序注释(Lewin et al, 2018)。该计划包含多个子项目, 如万狗基因组计划(Dog 10K Genomes Project) (Ostrander et al, 2019)、万种鸟基因组计划(Bird 10,000 Genomes Project) (Zhang, 2015)以及万种鱼类基因组计划(10,000 Fish Genomes Project) (Fan et al, 2020)等等。这些计划的实施将为一系列重大问题的探究提供基因组基础, 加深和增强人们对全球生物多样性的理解和资源管理。这些基因组数据的获得和深度挖掘, 将为一系列重大生物学问题的解决提供基础, 为生物多样性的保护提供理论依据和指导。
(3)多学科交叉融合。生物的进化过程非常复杂, 如前文所述, 物种形成的过程和机制极其复杂和多样, 难以用单一的技术手段和理论框架加以解释。我们认为多学科(如综合形态学、分子系统学、生态与进化发育生物学、遗传学和基因组学等)交叉融合,共同解决生物多样性进化问题将是未来生物多样性研究的大趋势。
随着生命之树更精准地重建、研究技术的进步与普及和研究内容的精细与深入, 科学家们将会在不久的将来描绘出一幅更加详实、准确的生物多样性进化历史“画卷”。
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什么决定了物种的多样性?
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DOI:10.17520/biods.2016222
[本文引用: 1]
已有的各个物种概念对物种的认识类似盲人摸象, 只包含了物种的某一个方面; 而一个分化后期的成熟物种应涵盖了所有的物种概念。但是, 尚未到达分化后期的物种往往又已开始新一轮的物种分化; 自然中存在的多数“物种”处于分化路上。这种循环往复连续分化产生的物种, 存在种间生殖隔离不彻底、基因流频繁发生、网状进化突出等现象。此外, 对于不同的物种对, 最早开始分化的基因以及不同物种概念所要求的条件的分化顺序不是统一的, 而是随机的。定义一个适合所有“分化路上的物种”概念存在较大困难。但是, 应采用尽可能多的物种概念来界定分化路上的物种、发表新种和进行分类处理; 也应承认种间可能广泛存在不完全的生殖隔离和有限的基因流, 即有不属于两个物种群体的杂交或回交个体的存在。这样划分的物种比只依据一个物种概念认定的物种具有更高的客观性和科学性。
Light stimulates anoxic and oligotrophic growth of glacial Flavobacterium strains that produce zeaxanthin
DOI:10.1038/s41396-020-00891-w URL [本文引用: 1]
Pan-genome of wild and cultivated soybeans
DOI:S0092-8674(20)30618-8
PMID:32553274
[本文引用: 1]
Soybean is one of the most important vegetable oil and protein feed crops. To capture the entire genomic diversity, it is needed to construct a complete high-quality pan-genome from diverse soybean accessions. In this study, we performed individual de novo genome assemblies for 26 representative soybeans that were selected from 2,898 deeply sequenced accessions. Using these assembled genomes together with three previously reported genomes, we constructed a graph-based genome and performed pan-genome analysis, which identified numerous genetic variations that cannot be detected by direct mapping of short sequence reads onto a single reference genome. The structural variations from the 2,898 accessions that were genotyped based on the graph-based genome and the RNA sequencing (RNA-seq) data from the representative 26 accessions helped to link genetic variations to candidate genes that are responsible for important traits. This pan-genome resource will promote evolutionary and functional genomics studies in soybean.Copyright © 2020 Elsevier Inc. All rights reserved.
Genomic mechanisms of physiological and morphological adaptations of limestone langurs to karst habitats
DOI:10.1093/molbev/msz301
PMID:31846031
[本文引用: 1]
Knowledge of the physiological and morphological evolution and adaptation of nonhuman primates is critical to understand hominin origins, physiological ecology, morphological evolution, and applications in biomedicine. Particularly, limestone langurs represent a direct example of adaptations to the challenges of exploiting a high calcium and harsh environment. Here, we report a de novo genome assembly (Tfra_2.0) of a male François's langur (Trachypithecus francoisi) with contig N50 of 16.3 Mb and resequencing data of 23 individuals representing five limestone and four forest langur species. Comparative genomics reveals evidence for functional evolution in genes and gene families related to calcium signaling in the limestone langur genome, probably as an adaptation to naturally occurring high calcium levels present in water and plant resources in karst habitats. The genomic and functional analyses suggest that a single point mutation (Lys1905Arg) in the α1c subunit of the L-type voltage-gated calcium channel Cav1.2 (CACNA1C) attenuates the inward calcium current into the cells in vitro. Population genomic analyses and RNA-sequencing indicate that EDNRB is less expressed in white tail hair follicles of the white-headed langur (T. leucocephalus) compared with the black-colored François's langur and hence might be responsible for species-specific differences in body coloration. Our findings contribute to a new understanding of gene-environment interactions and physiomorphological adaptative mechanisms in ecologically specialized primate taxa.© The Author(s) 2019. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
Evolutionary history of the angiosperm flora of China
DOI:10.1038/nature25485 URL [本文引用: 1]
Large-scale sequencing of flatfish genomes provides insights into the polyphyletic origin of their specialized body plan
DOI:10.1038/s41588-021-00836-9
PMID:33875864
[本文引用: 2]
The evolutionary and genetic origins of the specialized body plan of flatfish are largely unclear. We analyzed the genomes of 11 flatfish species representing 9 of the 14 Pleuronectiforme families and conclude that Pleuronectoidei and Psettodoidei do not form a monophyletic group, suggesting independent origins from different percoid ancestors. Genomic and transcriptomic data indicate that genes related to WNT and retinoic acid pathways, hampered musculature and reduced lipids might have functioned in the evolution of the specialized body plan of Pleuronectoidei. Evolution of Psettodoidei involved similar but not identical genes. Our work provides valuable resources and insights for understanding the genetic origins of the unusual body plan of flatfishes.
Biodiversity hotspots: A shortcut for a more complicated concept
DOI:10.1016/j.gecco.2014.12.008 URL [本文引用: 1]
Warm-cold colonization: Response of oaks to uplift of the Himalaya-Hengduan Mountains
DOI:10.1111/mec.14092 URL [本文引用: 1]
Giant lungfish genome elucidates the conquest of land by vertebrates
DOI:10.1038/s41586-021-03198-8 URL [本文引用: 1]
Phylogenomics resolves the timing and pattern of insect evolution
DOI:10.1126/science.1257570
PMID:25378627
[本文引用: 1]
Insects are the most speciose group of animals, but the phylogenetic relationships of many major lineages remain unresolved. We inferred the phylogeny of insects from 1478 protein-coding genes. Phylogenomic analyses of nucleotide and amino acid sequences, with site-specific nucleotide or domain-specific amino acid substitution models, produced statistically robust and congruent results resolving previously controversial phylogenetic relations hips. We dated the origin of insects to the Early Ordovician [~479 million years ago (Ma)], of insect flight to the Early Devonian (~406 Ma), of major extant lineages to the Mississippian (~345 Ma), and the major diversification of holometabolous insects to the Early Cretaceous. Our phylogenomic study provides a comprehensive reliable scaffold for future comparative analyses of evolutionary innovations among insects.Copyright © 2014, American Association for the Advancement of Science.
Evo-devo: Extending the evolutionary synthesis
The gene expression network regulating queen brain remodeling after insemination and its parallel use in ants with reproductive workers
DOI:10.1126/sciadv.aaz5772 URL [本文引用: 1]
Digits and fin rays share common developmental histories
DOI:10.1038/nature19322 URL [本文引用: 1]
The evolutionary history of dogs in the Americas
One thousand plant transcriptomes and the phylogenomics of green plants
DOI:10.1038/s41586-019-1693-2 URL [本文引用: 1]
Dog10K: An international sequencing effort to advance studies of canine domestication, phenotypes and health
DOI:10.1093/nsr/nwz049
PMID:31598383
[本文引用: 1]
Dogs are the most phenotypically diverse mammalian species, and they possess more known heritable disorders than any other non-human mammal. Efforts to catalog and characterize genetic variation across well-chosen populations of canines are necessary to advance our understanding of their evolutionary history and genetic architecture. To date, no organized effort has been undertaken to sequence the world's canid populations. The Dog10K Consortium (http://www.dog10kgenomes.org) is an international collaboration of researchers from across the globe who will generate 20× whole genomes from 10 000 canids in 5 years. This effort will capture the genetic diversity that underlies the phenotypic and geographical variability of modern canids worldwide. Breeds, village dogs, niche populations and extended pedigrees are currently being sequenced, and assemblies of multiple canids are being constructed. This unprecedented dataset will address the genetic underpinnings of domestication, breed formation, aging, behavior and morphological variation. More generally, this effort will advance our understanding of human and canine health.© The Author(s) 2019. Published by Oxford University Press on behalf of China Science Publishing & Media Ltd.
Convergent genomic signatures of flight loss in birds suggest a switch of main fuel
DOI:10.1038/s41467-019-10682-3
PMID:31227702
[本文引用: 1]
Flight loss in birds is as characteristic of the class Aves as flight itself. Although morphological and physiological differences are recognized in flight-degenerate bird species, their contributions to recurrent flight degeneration events across modern birds and underlying genetic mechanisms remain unclear. Here, in an analysis of 295 million nucleotides from 48 bird genomes, we identify two convergent sites causing amino acid changes in ATGL and ACOT7 in flight-degenerate birds, which to our knowledge have not previously been implicated in loss of flight. Functional assays suggest that Ser321Gly reduces lipid hydrolytic ability of ATGL, and Ala197Val enhances acyl-CoA hydrolytic activity of ACOT7. Modeling simulations suggest a switch of main energy sources from lipids to carbohydrates in flight-degenerate birds. Our results thus suggest that physiological convergence plays an important role in flight degeneration, and anatomical convergence often invoked may not.
Recent origin and rapid speciation of Neotropical orchids in the world’s richest plant biodiversity hotspot
DOI:10.1111/nph.14629
PMID:28631324
[本文引用: 3]
The Andean mountains of South America are the most species-rich biodiversity hotspot worldwide with c. 15% of the world's plant species, in only 1% of the world's land surface. Orchids are a key element of the Andean flora, and one of the most prominent components of the Neotropical epiphyte diversity, yet very little is known about their origin and diversification. We address this knowledge gap by inferring the biogeographical history and diversification dynamics of the two largest Neotropical orchid groups (Cymbidieae and Pleurothallidinae), using two unparalleled, densely sampled orchid phylogenies (including more than 400 newly generated DNA sequences), comparative phylogenetic methods, geological and biological datasets. We find that the majority of Andean orchid lineages only originated in the last 20-15 million yr. Andean lineages are derived from lowland Amazonian ancestors, with additional contributions from Central America and the Antilles. Species diversification is correlated with Andean orogeny, and multiple migrations and recolonizations across the Andes indicate that mountains do not constrain orchid dispersal over long timescales. Our study sheds new light on the timing and geography of a major Neotropical diversification, and suggests that mountain uplift promotes species diversification across all elevational zones.© 2017 The Authors. New Phytologist © 2017 New Phytologist Trust.
Primate phylogenetic relationships and divergence dates inferred from complete mitochondrial genomes
DOI:10.1016/j.ympev.2014.02.023
PMID:24583291
[本文引用: 1]
The origins and the divergence times of the most basal lineages within primates have been difficult to resolve mainly due to the incomplete sampling of early fossil taxa. The main source of contention is related to the discordance between molecular and fossil estimates: while there are no crown primate fossils older than 56Ma, most molecule-based estimates extend the origins of crown primates into the Cretaceous. Here we present a comprehensive mitogenomic study of primates. We assembled 87 mammalian mitochondrial genomes, including 62 primate species representing all the families of the order. We newly sequenced eleven mitochondrial genomes, including eight Old World monkeys and three strepsirrhines. Phylogenetic analyses support a strong topology, confirming the monophyly for all the major primate clades. In contrast to previous mitogenomic studies, the positions of tarsiers and colugos relative to strepsirrhines and anthropoids are well resolved. In order to improve our understanding of how fossil calibrations affect age estimates within primates, we explore the effect of seventeen fossil calibrations across primates and other mammalian groups and we select a subset of calibrations to date our mitogenomic tree. The divergence date estimates of the Strepsirrhine/Haplorhine split support an origin of crown primates in the Late Cretaceous, at around 74Ma. This result supports a short-fuse model of primate origins, whereby relatively little time passed between the origin of the order and the diversification of its major clades. It also suggests that the early primate fossil record is likely poorly sampled. Copyright © 2014 Elsevier Inc. All rights reserved.
A comprehensive phylogeny of birds (Aves) using targeted next-generation DNA sequencing
DOI:10.1038/nature15697 URL [本文引用: 1]
Pan-genome analysis of 33 genetically diverse rice accessions reveals hidden genomic variations
DOI:10.1016/j.cell.2021.04.046
PMID:34051138
[本文引用: 1]
Structural variations (SVs) and gene copy number variations (gCNVs) have contributed to crop evolution, domestication, and improvement. Here, we assembled 31 high-quality genomes of genetically diverse rice accessions. Coupling with two existing assemblies, we developed pan-genome-scale genomic resources including a graph-based genome, providing access to rice genomic variations. Specifically, we discovered 171,072 SVs and 25,549 gCNVs and used an Oryza glaberrima assembly to infer the derived states of SVs in the Oryza sativa population. Our analyses of SV formation mechanisms, impacts on gene expression, and distributions among subpopulations illustrate the utility of these resources for understanding how SVs and gCNVs shaped rice environmental adaptation and domestication. Our graph-based genome enabled genome-wide association study (GWAS)-based identification of phenotype-associated genetic variations undetectable when using only SNPs and a single reference assembly. Our work provides rich population-scale resources paired with easy-to-access tools to facilitate rice breeding as well as plant functional genomics and evolutionary biology research.Copyright © 2021 Elsevier Inc. All rights reserved.
The evolution of ancestral and species-specific adaptations in snowfinches at the Qinghai- Tibet Plateau
Ground tit genome reveals avian adaptation to living at high altitudes in the Tibetan Plateau
DOI:10.1038/ncomms3071
PMID:23817352
[本文引用: 1]
The ground tit (Parus humilis) is endemic to the Tibetan plateau. It is a member of family Paridae but it was long thought to be related to the ground jays because of their morphological similarities. Here we present the ground tit's genome and re-sequence two tits and one ground jay, to clarify this controversially taxonomic status and uncover its genetic adaptations to the Tibetan plateau. Our results show that ground tit groups with two tits and it diverges from them between 7.7 and 9.9 Mya. Compared with other avian genomes, ground tit shows expansion in genes linked to energy metabolism and contractions in genes involved in immune and olfactory perception. We also found positively selected and rapidly evolving genes in hypoxia response and skeletal development. These results indicated that ground tit evolves basic strategies and 'tit-to-jay' change for coping with the life in an extreme environment.
The runaway evolution of SARS-CoV-2 leading to the highly evolved delta strain
DOI:10.1093/molbev/msac046 URL [本文引用: 1]
The origin of floral organ identity quartets
DOI:10.1105/tpc.16.00366 URL [本文引用: 1]
Speciation gradients and the distribution of biodiversity
DOI:10.1038/nature22897 URL [本文引用: 1]
The gene and gene expression (GAGE) species concept: An universal approach for all eukaryotic organisms
DOI:10.1093/sysbio/syaa032
PMID:32298447
[本文引用: 1]
The Gene and Gene Expression (GAGE) species concept, a new version of the Pragmatic Species Concept of Seifert (2014), is proposed as a concept applicable to any described recent or fossil eukaryotic organism independent from its mode of reproduction or evolutionary history. In addition to presenting the concept as such, the article also provides practical recommendations for taxonomists when delimiting species and describing taxa. The wording of the new concept contains a heading core sentence plus five attached sentences addressing essential conditions for its translation into a sound taxonomic practice: "Species are separable clusters that have passed a threshold of evolutionary divergence and are exclusively defined by nuclear DNA sequences and/or their expression products. Nuclear DNA sequences and their expression products are different character systems but have a highly correlated indicative function. Character systems with the least risk of epigenetic or ontogenetic modification have superior indicative value when conflicts between character systems of integrative studies arise. All character systems have to be described by an adequate numerics allowing cluster formation and determination of thresholds. Thresholds for each character system should be fixed by consensus among the experts under the principle of avoiding oversplitting or lumping. Clusters must not be the expression of intraspecific polymorphism." Recognizing the distortions and conflicts caused to taxonomy through barcoding or through assessment on the basis of association with other organisms, the GAGE species concept strongly downgrades the use of cytoplasmic DNA of endosymbiotic origin (mtDNA, cpDNA) or DNA of closely associated microbes (e.g., Wolbachia bacteria) for final taxonomic decision-making. Recognizing the distortion of phylogenies by the high frequency of reticulate evolution, it is argued that delimiting and naming species has to be separated from constructing bifurcating phylogenetic trees. [Cytoplasmic DNA; lumping; nuclear DNA; numeric taxonomy; oversplitting; reticulate evolution.].© The Author(s) 2020. Published by Oxford University Press, on behalf of Society of Systematic Biologists. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
Developmental mechanisms involved in the diversification of flowers
DOI:10.1038/s41477-019-0498-5
PMID:31477891
[本文引用: 1]
We all appreciate the fantastic diversity of flowers. How flowers diversified, however, remains largely enigmatic. The mechanisms underlying the diversification of flowers are complex because the overall appearance of a flower is determined by many factors, such as the shape and size of its receptacle, and the arrangement, number, type, shape and colour of floral organs. Modifications of the developmental trajectories of a flower and its components, therefore, can lead to the generation of new floral types. In this Review, by summarizing the recent progress in studying the initiation, identity determination, morphogenesis and maturation of floral organs, we present our current understanding of the mechanisms underlying the diversification of flowers.
The drivers of tropical speciation
Genome evolution and diversity of wild and cultivated potatoes
DOI:10.1038/s41586-022-04822-x URL [本文引用: 1]
Evolutionary analysis and lineage designation of SARS-CoV-2 genomes
DOI:10.1016/j.scib.2021.02.012 URL [本文引用: 1]
An update of the Angiosperm Phylogeny Group classification for the orders and families of flowering plants: APG IV
DOI:10.1111/boj.12385 URL [本文引用: 1]
Habitat adaptation drives speciation of a Streptomyces species with distinct habitats and disparate geographic origins
African lungfish genome sheds light on the vertebrate water-to-land transition
DOI:10.1016/j.cell.2021.01.047
PMID:33545087
[本文引用: 1]
Lungfishes are the closest extant relatives of tetrapods and preserve ancestral traits linked with the water-to-land transition. However, their huge genome sizes have hindered understanding of this key transition in evolution. Here, we report a 40-Gb chromosome-level assembly of the African lungfish (Protopterus annectens) genome, which is the largest genome assembly ever reported and has a contig and chromosome N50 of 1.60 Mb and 2.81 Gb, respectively. The large size of the lungfish genome is due mainly to retrotransposons. Genes with ultra-long length show similar expression levels to other genes, indicating that lungfishes have evolved high transcription efficacy to keep gene expression balanced. Together with transcriptome and experimental data, we identified potential genes and regulatory elements related to such terrestrial adaptation traits as pulmonary surfactant, anxiolytic ability, pentadactyl limbs, and pharyngeal remodeling. Our results provide insights and key resources for understanding the evolutionary pathway leading from fishes to humans.Copyright © 2021 Elsevier Inc. All rights reserved.
Flexibility in the structure of spiral flowers and its underlying mechanisms
DOI:10.1038/nplants.2015.188 URL [本文引用: 1]
Genetic basis of ruminant headgear and rapid antler regeneration
DOI:10.1126/science.aav6335 URL [本文引用: 1]
Species divergence with gene flow and hybrid speciation on the Qinghai-Tibet Plateau
DOI:10.1111/nph.17956
PMID:35020198
[本文引用: 2]
The Qinghai-Tibet Plateau (QTP) sensu lato (sl), comprising the platform, the Himalaya and the Hengduan Mountains, is characterized by a large number of endemic plant species. This evolutionary cradle may have arisen from explosive species diversification because of geographic isolation. However, gene flow has been widely detected during the speciation processes of all groups examined, suggesting that natural selection may have also played an important role during species divergence in this region. In addition, natural hybrids have been recovered in almost all species-rich genera. This suggests that numerous species in this region are still 'on the speciation pathway to complete reproductive isolation (RI)'. Such hybrids could directly develop into new species through hybrid polyploidization and homoploid hybrid speciation (HHS). HHS may take place more easily than previously thought through alternate inheritance of alleles of parents at multiple RI loci. Therefore, isolation, selection and hybridization could together have promoted species diversification of numerous plant genera on the QTP sl. We emphasize the need for identification and functional analysis of alleles of major genes for speciation, and especially encourage investigations of parallel adaptive divergence causing RI across different lineages within similar but specific habitats in this region.© 2022 The Authors. New Phytologist © 2022 New Phytologist Foundation.
Uplift-driven diversification in the Hengduan Mountains, a temperate biodiversity hotspot
Divergence in the Aquilegia ecalcarata complex is correlated with geography and climate oscillations: Evidence from plastid genome data
DOI:10.1111/mec.16151 URL [本文引用: 1]
The making of elaborate petals in Nigella through developmental repatterning
DOI:10.1111/nph.15799
PMID:30889278
[本文引用: 1]
Elaborate petals are present in many flowering plants lineages and have greatly promoted the success and evolutionary radiation of these groups. How elaborate petals are made, however, remains largely unclear. Petals of Nigella (Ranunculaceae) have long been recognized as elaborate and can thus be an excellent model for the study of petal elaboration. Here, by conducting detailed morphological, micromorphological, anatomical, developmental and evolutionary studies on the petals of Nigella species, we explored the processes, general patterns and underlying mechanisms of petal elaboration. We found that petals of Nigella are highly complex, and the complexity can be reflected at various levels. We also found that evolutionary elaboration of the Nigella petals is a gradual process, involving not only modifications of pre-existing structures but also de novo origination of new characters. Further investigations indicated that the elaboration and diversification of Nigella petals were accomplished by modifying the ancestral trajectory of petal development, a process known as developmental repatterning. Our results not only provide new insights into the development and evolution of elaborate petals, but also highlight the necessity of conducting multiple-level investigations for understanding the processes, patterns and underlying mechanisms of plant evolution.© 2019 The Authors. New Phytologist © 2019 New Phytologist Trust.
Deep time diversity and the early radiations of birds
Chloroplast genomic data provide new and robust insights into the phylogeny and evolution of the Ranunculaceae
DOI:S1055-7903(18)30448-2
PMID:30826488
[本文引用: 1]
The family Ranunculaceae, a member of early-diverging eudicots that is increasingly being used as a model for the study of plant developmental evolution, has been the focus of systematic studies for centuries. Recent studies showed that the family can be divided into 14 tribes, with Glaucideae, Hydrastideae, and Coptideae being the successive basal-most lineages. The relationships among the remaining 11 tribes, however, remain controversial, so that a clear picture of character evolution within the family is still lacking. In this study, by sequencing, assembling and analyzing the chloroplast (cp) genomes of 35 species representing 31 genera of the 14 tribes, we resolved the relationships among the tribes and genera of the Ranunculaceae and clarified several long-standing controversies. We found that many of the characters that were once widely used for taxonomic and systematic considerations were actually results of parallel, convergent or even reversal evolution, suggestive of unreliability. We also found that the family has likely experienced two waves of radiative evolution, through which most of the extant tribes and genera were generated. Notably, both waves of radiation were correlated with the increase in the temperature of the earth, suggesting that global warming may have been the driving force of the radiation events. Based on these observations, we hypothesize that global warming and the associated decrease in the type and number of animal pollinators may have been the main reason why taxa with highly elaborate petals as well as those without petal were generated during each of the two waves of radiation.Copyright © 2019 Elsevier Inc. All rights reserved.
Phylotranscriptomic insights into Asteraceae diversity, polyploidy, and morphological innovation
DOI:10.1111/jipb.13078
[本文引用: 1]
Biodiversity is not evenly distributed among related groups, raising questions about the factors contributing to such disparities. The sunflower family (Asteraceae, >26,000 species) is among the largest and most diverse plant families, but its species diversity is concentrated in a few subfamilies, providing an opportunity to study the factors affecting biodiversity. Phylotranscriptomic analyses here of 244 transcriptomes and genomes produced a phylogeny with strong support for the monophyly of Asteraceae and the monophyly of most subfamilies and tribes. This phylogeny provides a reference for detecting changes in diversification rates and possible factors affecting Asteraceae diversity, which include global climate shifts, whole-genome duplications (WGDs), and morphological evolution. The origin of Asteraceae was estimated at ~83 Mya, with most subfamilies having diverged before the Cretaceous–Paleocene boundary. Phylotranscriptomic analyses supported the existence of 41 WGDs in Asteraceae. Changes to herbaceousness and capitulescence with multiple flower-like capitula, often with distinct florets and scaly pappus/receptacular bracts, are associated with multiple upshifts in diversification rate. WGDs might have contributed to the survival of early Asteraceae by providing new genetic materials to support morphological transitions. The resulting competitive advantage for adapting to different niches would have increased biodiversity in Asteraceae.
Phylotranscriptomics resolves the phylogeny of Pooideae and uncovers factors for their adaptive evolution
DOI:10.1093/molbev/msac026 URL [本文引用: 1]
Identification of the key regulatory genes involved in elaborate petal development and specialized character formation in Nigella damascena (Ranunculaceae)
DOI:10.1105/tpc.20.00330 URL [本文引用: 2]
Disruption of the petal identity gene APETALA3-3 is highly correlated with loss of petals within the buttercup family (Ranunculaceae)
Diversification of Rosaceae since the Late Cretaceous based on plastid phylogenomics
DOI:10.1111/nph.14461 URL [本文引用: 1]
The distinct morphological phenotypes of Southeast Asian aborigines are shaped by novel mechanisms for adaptation to tropical rainforests
DOI:10.1093/nsr/nwab072 URL [本文引用: 1]
Nuclear phylotranscriptomics and phylogenomics support numerous polyploidization events and hypotheses for the evolution of rhizobial nitrogen-fixing symbiosis in Fabaceae
DOI:10.1016/j.molp.2021.02.006
PMID:33631421
[本文引用: 1]
Fabaceae are the third largest angiosperm family, with 765 genera and ∼19 500 species. They are important both economically and ecologically, and global Fabaceae crops are intensively studied in part for their nitrogen-fixing ability. However, resolution of the intrasubfamilial Fabaceae phylogeny and divergence times has remained elusive, precluding a reconstruction of the evolutionary history of symbiotic nitrogen fixation in Fabaceae. Here, we report a highly resolved phylogeny using >1500 nuclear genes from newly sequenced transcriptomes and genomes of 391 species, along with other datasets, for a total of 463 legumes spanning all 6 subfamilies and 333 of 765 genera. The subfamilies are maximally supported as monophyletic. The clade comprising subfamilies Cercidoideae and Detarioideae is sister to the remaining legumes, and Duparquetioideae and Dialioideae are successive sisters to the clade of Papilionoideae and Caesalpinioideae. Molecular clock estimation revealed an early radiation of subfamilies near the K/Pg boundary, marked by mass extinction, and subsequent divergence of most tribe-level clades within ∼15 million years. Phylogenomic analyses of thousands of gene families support 28 proposed putative whole-genome duplication/whole-genome triplication events across Fabaceae, including those at the ancestors of Fabaceae and five of the subfamilies, and further analyses supported the Fabaceae ancestral polyploidy. The evolution of rhizobial nitrogen-fixing nodulation in Fabaceae was probed by ancestral character reconstruction and phylogenetic analyses of related gene families and the results support the hypotheses of one or two switch(es) to rhizobial nodulation followed by multiple losses. Collectively, these results provide a foundation for further morphological and functional evolutionary analyses across Fabaceae.Copyright © 2021 The Author. Published by Elsevier Inc. All rights reserved.
Resequencing 545 ginkgo genomes across the world reveals the evolutionary history of the living fossil
DOI:10.1038/s41467-019-12133-5 URL [本文引用: 1]
Graph pangenome captures missing heritability and empowers tomato breeding
DOI:10.1038/s41586-022-04808-9 URL [本文引用: 1]
Triticum population sequencing provides insights into wheat adaptation
DOI:10.1038/s41588-020-00722-w
PMID:33106631
[本文引用: 1]
Bread wheat expanded its habitat from a core area of the Fertile Crescent to global environments within ~10,000 years. The genetic mechanisms of this remarkable evolutionary success are not well understood. By whole-genome sequencing of populations from 25 subspecies within the genera Triticum and Aegilops, we identified composite introgression from wild populations contributing to a substantial portion (4-32%) of the bread wheat genome, which increased the genetic diversity of bread wheat and allowed its divergent adaptation. Meanwhile, convergent adaptation to human selection showed 2- to 16-fold enrichment relative to random expectation-a certain set of genes were repeatedly selected in Triticum species despite their drastic differences in ploidy levels and growing zones, indicating the important role of evolutionary constraints in shaping the adaptive landscape of bread wheat. These results showed the genetic necessities of wheat as a global crop and provided new perspectives on transferring adaptive success across species for crop improvement.
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