鱼类特异的基因组复制

辐鳍鱼类是脊椎动物中种类最多、分布最广的类群，其基因组大小不等。过去的观点认为，在脊椎动物进化历程中曾发生了两次基因组复制。近期的系统基因组学研究资料进一步提出，在大约350百万年，辐鳍鱼还发生了第三次基因组复制，即鱼类特异的基因组复制(fishspecific genome duplication，FSGD)，且发生的时间正处在“物种极度丰富”的硬骨鱼谱系(真骨总目)和“物种贫乏”的谱系(辐鳍鱼纲基部的类群)出现分歧的时间点，表明FSGD与硬骨鱼物种和生物多样性的增加有关。进一步开展鱼类比较基因组学和功能基因组学研究将进一步验证FSGD这一假说。     

鱼类特异的基因组复制及鱼类多样性(英文)

过去的研究认为在脊椎动物的进化历程中曾发生了两次基因组复制.而最近的系统发生学和比较基因组学研究提出辐鳍鱼还发生了第3次基因组复制,即鱼类特异的基因组复制(The fish-specific genome dupli-cation).目前,基因组复制是生物进化研究中的热点问题.硬骨鱼是世界上现存鱼类中最多的一类,由多于现存脊椎动物半数的物种组成,在形态和生理适应类型上表现了明显的差异.硬骨鱼在进化上的成功和惊人的生物多样性可能与它们的基因组复杂性有关.     

脊椎动物从水生到陆生演化过程中的遗传创新

泥盆纪时期(4亿年前)脊椎动物登陆事件是脊椎动物演化史上的一次巨大飞跃,需要脊椎动物在呼吸系统、运动系统和神经系统等诸多方面进行系统革新[1,2],从而适应从水生到陆生环境的改变。长期的古生物学和系统分类学研究显示,现存四足动物最近的鱼类近亲是肺鱼,而肉鳍鱼亚纲(包含空棘鱼、肺鱼和四足动物)与辐鳍鱼亚纲(常见的各种鱼)被统称为硬骨鱼纲。长期以来,肺鱼和早期辐鳍鱼类这些“活化石”鱼类基因组一直缺乏系统研究,特别是肺鱼拥有已知脊椎动物中最大的基因组(40 Gb以上),分析难度极大,因而硬骨鱼祖先到肉鳍鱼祖先再到陆生脊椎动物演化历程中的遗传创新机制这一重大科学问题始终没有得到很好解答。     

基于基因家族大小的比较研究脊椎动物的适应性进化

同源基因家族的拷贝数在不同物种间普遍存在差异,这种差异是由不同的基因得失速率引起。众所周知,基因拷贝数变异是特定物种表型创新的可能原因。本研究选取具有代表性的脊椎动物主要类群并跨约6亿年进化时间的64个物种,鉴定了它们的同源基因家族,揭示了脊椎动物基因家族大小的进化模式。结果表明:在推断的存在于脊椎动物最近共同祖先的6857个基因家族中,有6712个都在至少一个种系中发生了大小的变化,而且基因家族在大多数种系中都是收缩的;其中,霍氏树懒(Choloepus hoffmanni)中有最高的基因家族收缩水平,而在斑马鱼(Danio rerio)中则相反。基于脊椎动物基因家族大小进化的高度动态性,本研究从基因家族大小变化的角度鉴定了一些可能与特定脊椎动物类群进化有关的基因组信号。结果观察到在现存真骨鱼类最近共同祖先基因组中出现了可能因全基因组复制所导致的高比例的基因家族扩增现象,随后在后裔物种中发生基因收缩事件。此外,本研究还发现了硬骨鱼特异性的orphan基因可能对这些鱼类在水生环境中的适应性进化有所贡献的证据,如在有些硬骨鱼中orphan基因与鳍、尾巴、肾脏等发育有关。本研究结果有助于深入了解脊椎动物基因家族大小的进化,同时为理解脊椎动物基因组进化与表型多样性的联系提供了理论证据。     

云南发现新的全骨鱼类化石

正据英国皇家学会《生物学报》报道,中国科学院古脊椎动物与古人类研究所、浙江自然博物馆和芝加哥大学组成的研究小组在云南省罗平县三叠纪地层中发现辐鳍鱼亚纲中一种新的全骨鱼类化石,命名为罗平强壮鱼(Robustichthys luopingensis)。该发现为研究全骨鱼类的早期演化和预言鱼目(Ionoscopiformes)的起源提供了关键性的证据。全骨鱼类是真骨鱼类(现生脊椎动物中最大的类群)的姐妹群,在研究辐鳍鱼亚纲新鳍鱼     

基于转录组数据揭示4种兜兰的全基因组复制历史

多倍化或全基因组复制(WGD)是物种多样性发生的重要驱动力。目前, 在蕨类、菊科以及豆科等类群丰富的植物中已多次报道全基因组复制事件, 而兰科(Orchidaceae)全基因组复制事件报道极少, 与其丰富的物种多样性存在矛盾, 推测与前期样本量小但类群跨度大的研究策略有关。选取染色体数目变异丰富且多样性较高的兜兰属(Paphiopedilum)为兰科植物代表类群, 基于共享数据库中4种兜兰的转录组数据, 采用同义替换率(K_s)、系统发生基因组学以及相对定年的方法分析兜兰属植物是否发生过全基因组复制事件。结果表明, 在4种兜兰中均检测到3次全基因组复制事件, 分别发生在110.17-119.77 Mya (WGD1)、60.95-74.19 Mya (WGD2)和38.19-45.85 Mya (WGD3)。其中, WGD3为新检测到的全基因组复制事件, 推测其发生在杓兰亚科(Cypripedioideae)与姐妹类群分化后, 兜兰属与姐妹类群分化之前。此外, 3次全基因组复制事件发生后优先保留的基因拷贝在功能上多与当时的环境胁迫响应相关, 推测全基因组复制提高了兜兰属植物祖先对当时极端环境变化的适应性。     

云南罗平中三叠世翼鳕属一新种及早期辐鳍鱼类系统发育关系（英文）

辐鳍鱼亚纲是现存脊椎动物中最大的类群,包括腕鳍鱼次亚纲、辐鳍鱼次亚纲(包括软骨硬鳞类和新鳍鱼类)和亲缘关系密切的化石类群。已灭绝的翼鳕属(Pteronisculus)是隶属于辐鳍鱼亚纲的一个干群,包括产于马达加斯加、欧洲和北美下三叠统的11个种和中国中三叠统的一个种。根据滇东罗平中三叠世(安尼期)海相地层中发现的5块保存完好的化石,命名翼鳕属一新种,张氏翼鳕(Pteronisculus changae sp. nov.)。这是翼鳕属在中三叠世的第二个确切种,最大体长达295 mm,代表了罗平生物群中已知体型最大的辐鳍鱼亚纲干群物种。新种具有翼鳕属的独特衍征,泪骨具有牙齿,但它又有明显区别于本属其他种的自近裔特征,如间颞骨中部有一个内突起,21根上神经骨,83列侧线鳞。分支分析结果为早期辐鳍鱼类系统发育关系提供了新的见解,认为翼鳕属是Cyranorhis的姐妹群。根据体型和口缘牙齿等特征推测张氏翼鳕是一个快速游动的捕食者,以浮游无脊椎动物和体型较小的鱼类或鱼类幼体为食。作为翼鳕属最年轻的成员之一,张氏翼鳕的发现进一步表明翼鳕的多样性比我们过去认识的要高,古特提斯洋东缘可能是该属在中三叠世早期的避难所。     

转录组测序揭示翼盖蕨(Didymochlaena trancatula)的全基因组复制历史

全基因组复制在动植物中普遍存在, 被认为是促进物种进化的重要动力之一。作为蕨类植物的单种科物种, 翼盖蕨(Didymochlaena trancatula)是真水龙骨类I的基部类群, 在蕨类中具有独特的演化地位。本研究基于高通量测序, 通过同义替换率(Ks)分析、相对定年分析揭示翼盖蕨的全基因组复制发生情况。Ks分析表明, 翼盖蕨至少经历了两次全基因组复制事件, 其中一次发生于59-62 million years ago (Mya), 另一次发生于90-94 Mya, 这两次全基因组复制事件分别和白垩纪第三纪的Cretaceous-Tertiary (C-T)大灭绝事件以及翼盖蕨的物种分化时间相吻合。进一步对两次全基因组复制保留的基因进行功能注释和富集分析, 结果显示与转录及代谢调控相关的基因优势被保留。翼盖蕨的全基因组复制事件可能促进了该物种的分化及其对极端环境的适应性。     

谱系特有基因研究进展

谱系特有基因(Lineage-specific genes,LSGs)是指在一个谱系中特有并与其他物种谱系所有基因没有明显序列相似性的基因,约为物种基因组全部基因数量的10%~20%,于1996年首次在完成全基因组测序的酵母基因组中大量发现。大规模测序技术的发展使谱系特有基因研究成为比较基因组学的研究热点,已在微生物、海洋低等生物、植物(如拟南芥、水稻、杨树)、昆虫及高等灵长类动物等多个物种或类群中展开,其生物功能对于阐明物种进化历程和生物适应性具有重要意义。文章介绍了谱系特有基因的研究背景和现状,从谱系特有基因获取、基因结构分析、进化起源、生物功能、表达特性分析等方面阐述谱系特有基因的研究进展,分析了存在的问题和后续研究方向,以期为相关研究提供参考。     

乌龟线粒体全基因组序列和结构分析

龟鳖类同其它类群脊椎动物的系统进化关系一直存在争论。为进一步从分子水平上探讨这一问题,本文参照近源物种的线粒体基因组,设计了16对特异引物,采用PCR产物直接测序法测得了乌龟线粒体基因组全序列。结果表明:乌龟线粒体基因组序列全长16576bp,包括2个rRNA基因、22个tRNA基因、13个蛋白质编码基因和1个非编码控制区。乌龟线粒体基因组结构和基因排列顺序与其它龟鳖类相同,在“WANCY区”包含一个“stemloop”结构,ND3基因174位点存在一个额外插入的腺苷酸(A)。本文通过比较分析结构基因在主要脊椎动物类群中的排列顺序,探讨了龟鳖类与其它主要脊椎动物类群的系统进化关系     

From 2R to 3R: evidence for a fish-specific genome duplication (FSGD)

An important mechanism for the evolution of phenotypic complexity, diversity and innovation, and the origin of novel gene functions is the duplication of genes and entire genomes. Recent phylogenomic studies suggest that, during the evolution of vertebrates, the entire genome was duplicated in two rounds (2R) of duplication. Later, approximately 350 mya, in the stem lineage of ray-finned (actinopterygian) fishes, but not in that of the land vertebrates, a third genome duplication occurred-the fish-specific genome duplication (FSGD or 3R), leading, at least initially, to up to eight copies of the ancestral deuterostome genome. Therefore, the sarcopterygian (lobe-finned fishes and tetrapods) genome possessed originally only half as many genes compared to the derived fishes, just like the most-basal and species-poor lineages of extant fishes that diverged from the fish stem lineage before the 3R duplication. Most duplicated genes were secondarily lost, yet some evolved new functions. The genomic complexity of the teleosts might be the reason for their evolutionary success and astounding biological diversity.     

Asymmetric evolution in two fish-specifically duplicated receptor tyrosine kinase paralogons involved in teleost coloration

The occurrence of a fish-specific genome duplication (FSGD) in the lineage leading to teleost fishes is widely accepted, but the consequences of this event remain elusive. Teleosts, and the cichlid fishes from the species flocks in the East African Great Lakes in particular, evolved a unique complexity and diversity of body coloration and color patterning. Several genes involved in pigment cell development have been retained in duplicate copies in the teleost genome after the FSGD. Here we investigate the evolutionary fate of one of these genes, the type III receptor tyrosine kinase (RTK) colony-stimulating factor 1 receptor (csf1r). We isolated and shotgun sequenced two paralogous csf1r genes from a bacterial artificial chromosome library of the cichlid fish Astatotilapia burtoni that are both linked to paralogs of the pdgfr beta gene, another type III RTK. Two pdgfr beta-csf1r paralogons were also identified in the genomes of pufferfishes and medaka, and our phylogenetic analyses suggest that the pdgfr beta-csf1r locus was duplicated during the course of the FSGD. Comparisons of teleosts and tetrapods suggest asymmetrical divergence at different levels of genomic organization between the teleost-specific pdgfr beta-csf1r paralogons, which seem to have evolved as coevolutionary units. The high-evolutionary rate in the teleost B-paralogon, consisting of csf1rb and pdgfr betab, further suggests neofunctionalization by functional divergence of the extracellular, ligand-binding region of these cell-surface receptors. Finally, we hypothesize that genome duplications and the associated expansion of the RTK family might be causally linked to the evolution of coloration in vertebrates and teleost fishes in particular.     

More genes in fish?

Certain species of fish have recently become important model systems in comparative genomics and in developmental biology, in certain instances because of their small genome sizes (e.g., in the pufferfish) and, in other cases, because of the opportunity they provide to combine an easily accessible and experimentally manipulable embryology with the power of genetic approaches (e.g., in the zebrafish). The resulting accumulation of genomic information indicates that, surprisingly, many gene families of fish consist of more members than in mammals. Most modern fish, including the zebrafish and medakka, are diploid organisms; however, the greater number of genes in fish was possibly caused by additional ancient genome duplications which happened in the lineage leading to modern ray-finned fishes but not along the lineage leading to tetrapods. Since these two lineages shared their last common ancestor (in the Devonian about 360 million years ago) individual duplicated members of gene families were later lost in fish. Interestingly, comparative data indicate that, in some cases, genes in mammals even serve somewhat different functions than their homologues in fish, highlighting that the degree of evolutionary relatedness of genes is not always a reliable predictor of their evolutionary conservation and their similarity of function. Since fish are phenotypically probably not more complex than mammals, it is possible that evolution took alternative paths to the “economics of genomics” through alternative solutions to gene regulation. It is suggested that the more complex genomic architecture of fish permitted them to adapt and speciate quickly in response to changing selective regimes. BioEssays 20 :511–515, 1998. © 1998 John Wiley & Sons, Inc.     

The nucleotypic effects of cellular DNA content in cartilaginous and ray-finned fishes.

Cytological and organismal characteristics associated with cellular DNA content underpin most adaptionist interpretations of genome size variation. Since fishes are the only group of vertebrate for which relationships between genome size and key cellular parameters are uncertain, the cytological correlates of genome size were examined in this group. The cell and nuclear areas of erythrocytes showed a highly significant positive correlation with each other and with genome size across 22 cartilaginous and 201 ray-finned fishes. Regressions remained significant at all taxonomic levels, as well as among different fish lineages. However, the results revealed that cartilaginous fishes possess higher cytogenomic ratios than ray-finned fishes, as do cold-water fishes relative to their warm-water counterparts. Increases in genome size owing to ploidy shifts were found to influence cell and nucleus size in an immediate and causative manner, an effect that persists in ancient polyploid lineages. These correlations with cytological parameters known to have important influences on organismal phenotypes support an adaptive interpretation for genome size variation in fishes.     

Fugu genome analysis provides evidence for a whole-genome duplication early during the evolution of ray-finned fishes

With about 24,000 extant species, teleosts are the largest group of vertebrates. They constitute more than 99% of the ray-finned fishes (Actinopterygii) that diverged from the lobe-finned fish lineage (Sarcopterygii) about 450 MYA. Although the role of genome duplication in the evolution of vertebrates is now established, its role in structuring the teleost genomes has been controversial. At least two hypotheses have been proposed: a whole-genome duplication in an ancient ray-finned fish and independent gene duplications in different lineages. These hypotheses are, however, based on small data sets and lack adequate statistical and phylogenetic support. In this study, we have made a systematic comparison of the draft genome sequences of Fugu and humans to identify paralogous chromosomal regions ("paralogons") in the Fugu that arose in the ray-finned fish lineage ("fish-specific"). We identified duplicate genes in the Fugu by phylogenetic analyses of the Fugu, human, and invertebrate sequences. Our analyses provide evidence for 425 fish-specific duplicate genes in the Fugu and show that at least 6.6% of the genome is represented by fish-specific paralogons. We estimated the ages of Fugu duplicate genes and paralogons using the molecular clock. Remarkably, the ages of duplicate genes and paralogons are clustered, with a peak around 350 MYA. These data strongly suggest a whole-genome duplication event early during the evolution of ray-finned fishes, probably before the origin of teleosts.     

A compact cartilaginous fish model genome

The genomes of several vertebrates, including six mammals, the chicken, Xenopus and four ray-finned fishes have been sequenced or are currently being sequenced to provide a better understanding of the human genome through comparative analysis. However, this list does not include cartilaginous fishes, which are the most basal living jawed vertebrates [1]. The genomes of the current ‘popular’ cartilaginous fishes such as the nurse shark, dogfish, and horn shark are larger than the human genome (∼3800 Mb to 7000 Mb) [2], and are not attractive for whole-genome sequencing. Here, we report the characterization of the relatively small genome (1200 Mb) of a cartilaginous fish, the elephant fish (Callorhinchus milii), and propose it as a model for whole-genome sequencing.     

Integrating cytogenetics and genomics in comparative evolutionary studies of cichlid fish

ABSTRACT: BACKGROUND: The availability of a large number of recently sequenced vertebrate genomes opens new avenues to integrate cytogenetics and genomics in comparative and evolutionary studies. Cytogenetic mapping can offer alternative means to identify conserved synteny shared by distinct genomes and also to define genome regions that are still not fine characterized even after wide-ranging nucleotide sequence efforts. An efficient way to perform comparative cytogenetic mapping is based on BAC clones mapping by fluorescence in situ hybridization. In this report, to address the knowledge gap on the genome evolution in cichlid fishes, BAC clones of an Oreochromis niloticus library covering the linkage groups (LG) 1, 3, 5, and 7 were mapped onto the chromosomes of 9 African cichlid species. The cytogenetic mapping data were also integrated with BAC-end sequences information of O. niloticus and comparatively analyzed against the genome of other fish species and vertebrates. RESULTS: The location of BACs from LG1, 3, 5, and 7 revealed a strong chromosomal conservation among the analyzed cichlid species genomes, which evidenced a synteny of the markers of each LG. Comparative in silico analysis also identified large genomic blocks that were conserved in distantly related fish groups and also in other vertebrates. CONCLUSIONS: Although it has been suggested that fishes contain plastic genomes with high rates of chromosomal rearrangements and probably low rates of synteny conservation, our results evidence that large syntenic chromosome segments have been maintained conserved during evolution, at least for the considered markers. Additionally, our current cytogenetic mapping efforts integrated with genomic approaches conduct to a new perspective to address important questions involving chromosome evolution in fishes.     

Evolutionary implication of the absence of atrial natriuretic peptide (ANP) in euryhaline Oryzias fishes

The genus Oryzias contains nearly 20 species, including the Japanese medaka (Oryzias latipes). Because each species exhibits different adaptability to environmental salinity, Oryzias fishes offer unique opportunities for comparative studies. To understand the mechanisms of osmotic adaptation, we are studying the functional evolution of the natriuretic peptide (NP) family??a group of small peptide hormones involved in body fluid regulation??by using Oryzias fishes. Analysis of the Japanese medaka genome revealed that 7 NP subtypes, namely, Atrial NP (ANP), B-type NP (BNP), Ventricular NP (VNP), and 4?C-type NPs (CNP-1 through CNP-4) were generated from a CNP-4-like ancestral gene discovered in the cyclostomes before the ray-finned fish/lobe-finned fish divergence. This evolutionary history has been confirmed by the discovery of hidden NP genes in tetrapods. Through analyses of phylogenetic distribution of NP subtypes, we also found that specific losses of subtypes have occurred in each vertebrate lineage. For example, ANP is absent in the Japanese and Indian medaka and the flying fish, suggesting that loss of the ANP gene occurred after the divergence of Beloniformes from Cyprinodontiformes. This fact also supports the inclusion of Oryzias into Beloniformes as suggested by phylogenetic analysis using whole mitochondrial genome sequences. How Oryzias fishes have retained their euryhalinity with a reduced number of NPs is an interesting question. CNP-3, which is functionally flexible, may be a substitute for the lost cardiac NPs.     

Are all fishes ancient polyploids?

Euteleost fishes seem to have more copies of many genes than their tetrapod relatives. Three different mechanisms could explain the origin of these 'extra' fish genes. The duplicates may have been produced during a fish-specific genome duplication event. A second explanation is an increased rate of independent gene duplications in fish. A third possibility is that after gene or genome duplication events in the common ancestor of fish and tetrapods, the latter lost more genes. These three hypotheses have been tested by phylogenetic tree reconstruction. Phylogenetic analyses of sequences from human, mouse, chicken, frog (Xenopus laevis), zebrafish (Danio rerio) and pufferfish (Takifugu rubripes) suggest that ray-finned fishes are likely to have undergone a whole genome duplication event between 200 and 450 million years ago. We also comment here on the evolutionary consequences of this ancient genome duplication.