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基于33个遗传多样性水稻材料的泛基因组分析揭示“隐藏”的基因组变异 被引量:25
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作者 钦鹏 陈薇兰 +1 位作者 王淏 李仕贵 《四川农业大学学报》 CSCD 北大核心 2021年第3期275-278,共4页
【目的】基因组结构变异(SV)和基因拷贝数变异(g CNV)是动植物中主要的遗传变异来源,全面准确地鉴定和分析SV和g CNV对挖掘优异等位基因、保障水稻粮食安全具有重要意义。【方法】利用长片段测序数据和基因组装方法(HERA),对31个具有遗... 【目的】基因组结构变异(SV)和基因拷贝数变异(g CNV)是动植物中主要的遗传变异来源,全面准确地鉴定和分析SV和g CNV对挖掘优异等位基因、保障水稻粮食安全具有重要意义。【方法】利用长片段测序数据和基因组装方法(HERA),对31个具有遗传多样性的水稻栽培稻进行了高质量基因组组装,结合日本晴和蜀恢498高质量基因组,进行了系统的基因组比较分析。【结果】共鉴定到171072个非冗余SVs和25549个g CNVs,其中82.8%的PAV未在先前基于短序列测序数据获得的PAV中鉴定到。利用非洲栽培稻CG14作为外群,对发生在亚洲栽培稻群体的SV(d SV)进行了推断,发现大多数d SV位于基因非编码区,以及泛基因组中50%(32668)基因上下游2 kbp区域在32个亚洲栽培稻种至少有一个d SV。进一步结合转录组数据分析发现SVs和g CNVs对调控基因表达量对具有重要作用。对SV形成机制分析发现,SV主要由TEI(转座子插入)和NHEJ(非同源末端连接)两种机制形成,但不同类型SV的主要形成机制有所不同。该研究还构建了水稻中首个图形基因组,结合674份材料的二代测序和叶片早衰数据,发现17.5%的SV与其附近SNP的连锁度非常低,GWAS分析发现一个与叶片早衰显著相关的位点只能被SV检测到。相关研究成果以"Pan-genome analysis of 33 genetically diverse rice accessions reveals hidden genomic variations"为题于2021年5月发表在国际期刊Cell。【结论】提供了一个高质量泛基因组水平的基因组变异资源,将促进水稻的功能基因组和进化生物学研究、优异基因资源发掘和水稻育种。 展开更多
关键词 水稻 泛基因组 高质量基因组 结构性变异 基因拷贝数变异 图形基因组
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Exploring and Exploiting Pan-genomics for Crop Improvement 被引量:18
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作者 Yongfu Tao Xianrong Zhao +2 位作者 Emma Mace Robert Henry David Jordan 《Molecular Plant》 SCIE CAS CSCD 2019年第2期156-169,共14页
Genetic variation ranging from single-nucleotide polymorphisms to large structural variants (SVs) can cause variation of gene content among individuals within the same species. There is an increasing appreciation that... Genetic variation ranging from single-nucleotide polymorphisms to large structural variants (SVs) can cause variation of gene content among individuals within the same species. There is an increasing appreciation that a single reference genome is insufficient to capture the full landscape of genetic diversity of a species. Pan-genome analysis offers a platform to evaluate the genetic diversity of a species via investigation of its entire genome repertoire. Although a recent wave of pan-genomic studies has shed new light on crop diversity and improvement using advanced sequencing technology, the potential applications of crop pan-genomics in crop improvement are yet to be fully exploited. In this review, we highlight the progress achieved in understanding crop pan?genomics, discuss biological activities that cause SVs, review important agronomical traits affected by SVs, and present our perspective on the application of pan-genomics in crop improvement. 展开更多
关键词 pan-genome dispensable GENES core GENES structural VARIATION CROP improvement agronomical TRAITS
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Plant pan-genomics and its applications 被引量:10
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作者 Junpeng Shi Zhixi Tian +1 位作者 Jinsheng Lai Xuehui Huang 《Molecular Plant》 SCIE CAS CSCD 2023年第1期168-186,共19页
Plant genomes are so highly diverse that a substantial proportion of genomic sequences are not shared among individuals.The variable DNA sequences,along with the conserved core sequences,compose the more sophisticated... Plant genomes are so highly diverse that a substantial proportion of genomic sequences are not shared among individuals.The variable DNA sequences,along with the conserved core sequences,compose the more sophisticated pan-genome that represents the collection of all non-redundant DNA in a species.With rapid progress in genome sequencing technologies,pan-genome research in plants is now accelerating.Here we review recent advances in plant pan-genomics,including major driving forces of structural variations that constitute the variable sequences,methodological innovations for representing the pan-genome,and major successes in constructing plant pan-genomes.We also summarize recent efforts toward decoding the remaining dark matter in telomere-to-telomere or gapless plant genomes.These new genome resources,which have remarkable advantages over numerous previously assembled less-than-perfect genomes,are expected to become new references for genetic studies and plant breeding. 展开更多
关键词 plant pan-genome genome assembly structural variations graph genome T-2-T genome
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Building a sequence map of the pig pan-genome from multiple de novo assemblies and Hi-C data 被引量:12
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作者 Xiaomeng Tian Ran Li +10 位作者 Weiwei Fu Yan Li Xihong Wang Ming Li Duo Du Qianzi Tang Yudong Cai Yiming Long Yue Zhao Mingzhou Li Yu Jiang 《Science China(Life Sciences)》 SCIE CAS CSCD 2020年第5期750-763,共14页
Pigs were domesticated independently in the Near East and China,indicating that a single reference genome from one individual is unable to represent the full spectrum of divergent sequences in pigs worldwide.Therefore... Pigs were domesticated independently in the Near East and China,indicating that a single reference genome from one individual is unable to represent the full spectrum of divergent sequences in pigs worldwide.Therefore,12 de novo pig assemblies from Eurasia were compared in this study to identify the missing sequences from the reference genome.As a result,72.5 Mb of nonredundant sequences(~3% of the genome)were found to be absent from the reference genome(Sscrofa11.1)and were defined as pan-sequences.Of the pan-sequences,9.0 Mb were dominant in Chinese pigs,in contrast with their low frequency in European pigs.One sequence dominant in Chinese pigs contained the complete genic region of the tazarotene-induced gene 3(TIG3)gene which is involved in fatty acid metabolism.Using flanking sequences and Hi-C based methods,27.7% of the sequences could be anchored to the reference genome.The supplementation of these sequences could contribute to the accurate interpretation of the 3D chromatin structure.A web-based pan-genome database was further provided to serve as a primary resource for exploration of genetic diversity and promote pig breeding and biomedical research. 展开更多
关键词 pan-genome PIG reference genome 3D chromatin structure presence-absence variation
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30株大肠杆菌的泛基因组学特征分析 被引量:9
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作者 付静 秦启伟 《遗传》 CAS CSCD 北大核心 2012年第6期765-772,共8页
泛基因组(Pan-genome)是某一物种全部基因的总称,其中包括核心基因组(该物种所有个体中都存在的基因)和非必须基因组(只在部分个体中存在的基因,以及某个体特有的基因)。文章从泛基因组学角度比较分析了30株已经完成测序的大肠杆菌的基... 泛基因组(Pan-genome)是某一物种全部基因的总称,其中包括核心基因组(该物种所有个体中都存在的基因)和非必须基因组(只在部分个体中存在的基因,以及某个体特有的基因)。文章从泛基因组学角度比较分析了30株已经完成测序的大肠杆菌的基因、基因组成及其进化特征,结果表明核心基因只占据每株大肠杆菌全部基因数目的 50%左右,而平均每个菌株有146个特有基因,结果表明随着更多大肠杆菌菌株的基因组被测序,将会不断有新基因被发现。通过比较分析大肠杆菌不同菌株之间基因的保守性与基因的GC含量以及选择压力之间的关系,发现越保守的基因其GC含量变化范围越窄,同时在进化中受到的选择压力也越大。这些结果将有助于深入了解大肠杆菌基因组的进化特征及其基因组成的动态变化,并为预防和控制由致病性大肠杆菌引发的流行疾病提供理论依据,同时也为大规模病原菌基因组数据的分析方法提供借鉴。 展开更多
关键词 泛基因组 大肠杆菌 GC含量 选择压力
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The role of genomic structural variation in the genetic improvement of polyploid crops 被引量:5
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作者 Sarah-Veronica Schiessl Elvis Katche +2 位作者 Elizabeth Ihien Harmeet Singh Chawla Annaliese S.Mason 《The Crop Journal》 SCIE CAS CSCD 2019年第2期127-140,共14页
Many of our major crop species are polyploids, containing more than one genome or set of chromosomes. Polyploid crops present unique challenges, including difficulties in genome assembly, in discriminating between mul... Many of our major crop species are polyploids, containing more than one genome or set of chromosomes. Polyploid crops present unique challenges, including difficulties in genome assembly, in discriminating between multiple gene and sequence copies, and in genetic mapping, hindering use of genomic data for genetics and breeding. Polyploid genomes may also be more prone to containing structural variation, such as loss of gene copies or sequences(presence–absence variation) and the presence of genes or sequences in multiple copies(copynumber variation). Although the two main types of genomic structural variation commonly identified are presence–absence variation and copy-number variation, we propose that homeologous exchanges constitute a third major form of genomic structural variation in polyploids. Homeologous exchanges involve the replacement of one genomic segment by a similar copy from another genome or ancestrally duplicated region, and are known to be extremely common in polyploids. Detecting all kinds of genomic structural variation is challenging, but recent advances such as optical mapping and long-read sequencing offer potential strategies to help identify structural variants even in complex polyploid genomes. All three major types of genomic structural variation(presence–absence, copy-number, and homeologous exchange) are now known to influence phenotypes in crop plants, with examples of flowering time, frost tolerance, and adaptive and agronomic traits. In this review,we summarize the challenges of genome analysis in polyploid crops, describe the various types of genomic structural variation and the genomics technologies and data that can be used to detect them, and collate information produced to date related to the impact of genomic structural variation on crop phenotypes. We highlight the importance of genomic structural variation for the future genetic improvement of polyploid crops. 展开更多
关键词 Presence–absence VARIATION COPY-NUMBER VARIATION Homeologous exchanges genome structure pan-genome
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泛基因组:高质量参考基因组的新标准 被引量:6
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作者 边培培 张禹 姜雨 《遗传》 CAS CSCD 北大核心 2021年第11期1023-1037,共15页
随着三代测序组装的高质量参考基因组的陆续发布,以及大规模重测序和群体遗传学分析的广泛进行,研究人员发现来自单一个体的参考基因组远不能涵盖整个物种的所有遗传序列,大量缺失序列导致群体遗传变异图谱不完整,而构建来自多个个体的... 随着三代测序组装的高质量参考基因组的陆续发布,以及大规模重测序和群体遗传学分析的广泛进行,研究人员发现来自单一个体的参考基因组远不能涵盖整个物种的所有遗传序列,大量缺失序列导致群体遗传变异图谱不完整,而构建来自多个个体的泛基因组能很好地解决这一缺陷,其研究内容包括负责基本生物学功能及该物种主要表型特征的核心基因组以及与物种的遗传多样性和个体独特性相关的可变基因组。根据核心和可变基因组所占比例的不同,泛基因组存在开放型和闭合型两种类型。本文主要综述了细菌、真菌和动植物的泛基因组学研究进展,讨论了其在各生物类群中的特征,其中哺乳动物泛基因组是相对闭合的,而目前已知的微生物、被子植物和部分低等动物的泛基因组倾向于开放,通过泛基因组的构建可以完善现有参考基因组并获取整个物种的完整变异信息,将有助于深入研究遗传多样性和表型变异产生的分子机制。 展开更多
关键词 泛基因组 存在/缺失变异 核心基因组 可变基因组
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Phased,chromosome-scale genome assemblies of tetraploid potato reveal a complex genome,transcriptome,and predicted proteome landscape underpinning genetic diversity 被引量:7
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作者 Genevieve Hoopes Xiaoxi Meng +45 位作者 John P.Hamilton Sai Reddy Achakkagari Fernanda de Alves Freitas Guesdes Marie E.Bolger Joseph J.Coombs Danny Esselink Natalie R.Kaiser Linda Kodde Maria Kyriakidou Brian Lavrijssen Natascha van Lieshout Rachel Shereda Heather K.Tuttle Brieanne Vaillancourt Joshua C.Wood Jan Mde Boer Nolan Bornowski Peter Bourke David Douches Herman Jvan Eck Dave Ellis Max J.Feldman Kyle M.Gardner Johannes C.P.Hopman Jiming Jiang Walter S.De Jong Joseph C.Kuhl Richard G.Novy Stan Oome Vidyasagar Sathuvalli Ek Han Tan Remco A.Ursum M.Isabel Vales Kelly Vining Richard G.F.Visser Jack Vossen G.Craig Yencho Noelle L.Anglin Christian W.B.Bachem Jeffrey B.Endelman Laura M.Shannon Martina V.Stromvik Helen H.Tai Bjorn Usadel C.Robin Buell Richard Finkers 《Molecular Plant》 SCIE CAS CSCD 2022年第3期520-536,共17页
Cultivated potato is a clonally propagated autotetraploid species with a highly heterogeneous genome.Phased assemblies of six cultivars including two chromosome-scale phased genome assemblies revealed extensive alleli... Cultivated potato is a clonally propagated autotetraploid species with a highly heterogeneous genome.Phased assemblies of six cultivars including two chromosome-scale phased genome assemblies revealed extensive allelic diversity,including altered coding and transcript sequences,preferential allele expression,and structural variation that collectively result in a highly complex transcriptome and predicted proteome,which are distributed across the homologous chromosomes.Wild species contribute to the extensive allelic diversity in tetraploid cultivars,demonstrating ancestral introgressions predating modern breeding efforts.As a clonally propagated autotetraploid that undergoes limited meiosis,dysfunctional and deleterious alleles are not purged in tetraploid potato.Nearly a quarter of the loci bore mutations are predicted to have a high negative impact on protein function,complicating breeder’s efforts to reduce genetic load.The StCDF1 locus controls maturity,and analysis of six tetraploid genomes revealed that 12 allelic variants of StCDF1 are correlated with maturity in a dosage-dependent manner.Knowledge of the complexity of the tetraploid potato genome with its rampant structural variation and embedded deleterious and dysfunctional alleles will be key not only to implementing precision breeding of tetraploid cultivars but also to the construction of homozygous,diploid potato germplasm containing favorable alleles to capitalize on heterosis in F1 hybrids. 展开更多
关键词 POTATO allele diversity phased assembly POLYPLOID pan-genome wild introgressions
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细菌泛基因组学的研究 被引量:5
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作者 庄绪冉 朱泳璋 《上海交通大学学报(医学版)》 CAS CSCD 北大核心 2012年第11期1440-1443,共4页
细菌是自然界中最古老的生物种群之一,不同菌种之间甚至是同一种菌的不同株系之间也具有丰富的遗传多样性,在表型特征上具有明显分化,这些分化的遗传基础主要源自菌株之间的基因组遗传信息的差异。为了更全面地在基因组水平上揭示细菌... 细菌是自然界中最古老的生物种群之一,不同菌种之间甚至是同一种菌的不同株系之间也具有丰富的遗传多样性,在表型特征上具有明显分化,这些分化的遗传基础主要源自菌株之间的基因组遗传信息的差异。为了更全面地在基因组水平上揭示细菌种内个体间的遗传多样性,进一步探寻个体间的系统发生关系和个体间表型差异的遗传基础,科学家提出了细菌泛基因组学的概念,该文对细菌菌种遗传多样性的形成机制、泛基因组的研究策略及其在细菌研究中的应用和进展等作一综述。 展开更多
关键词 泛基因组 多菌株测序 遗传多样性 核心基因组 附属基因组
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34株假单胞菌的泛基因组分析 被引量:5
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作者 方源 谢柏盛 +3 位作者 黄婷 郑鑫 许子牧 汪家权 《应用与环境生物学报》 CAS CSCD 北大核心 2021年第4期1031-1038,共8页
假单胞菌属在各种环境广泛分布且具有重要的生态应用价值,然而当前研究对其环境适应性遗传基础的解析尚不充分.选择33株有效发表且具有全基因组序列以及一株新分离的假单胞菌的全基因组进行泛基因组学分析.结果表明,选择的假单胞菌属菌... 假单胞菌属在各种环境广泛分布且具有重要的生态应用价值,然而当前研究对其环境适应性遗传基础的解析尚不充分.选择33株有效发表且具有全基因组序列以及一株新分离的假单胞菌的全基因组进行泛基因组学分析.结果表明,选择的假单胞菌属菌株泛基因组含有173271条蛋白序列,共有30847个同源基因家族,包括1505个核心基因,基因组呈开放型.通过分析不同基因组的基因组演化特征,发现通过基因水平转移获得的基因占整个基因组的比例为32%-48%,其平均基因岛数量为53个.发现假单胞菌属泛基因组的开发性与其频繁的基因水平转移事件和快速的基因进化有关.进一步分析表明,不同基因组中的功能基因家族按照菌株的环境分布进行聚类,表明对特殊环境的适应决定了假单胞菌的遗传特征.本研究初步揭示了假单胞菌属细菌遗传特征的共性与特性,结果可为解析假单胞菌属环境适应性的遗传基础与功能多样性的演化发生机制提供研究线索. 展开更多
关键词 假单胞菌属 泛基因组 核心基因组 环境适应
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Structural variation(SV)-based pan-genome and GWAS reveal the impacts of SVs on the speciation and diversification of allotetraploid cottons 被引量:4
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作者 Shangkun Jin Zegang Han +8 位作者 Yan Hu Zhanfeng Si Fan Dai Lu He Yu Cheng Yiqjan Li Ting Zhao Lei Fang Tianzhen Zhang 《Molecular Plant》 SCIE CSCD 2023年第4期678-693,共16页
Structural variations(SVs)have long been described as being involved in the origin,adaption,and domes-tication of species.However,the underlying genetic and genomic mechanisms are poorly understood.Here,we report a hi... Structural variations(SVs)have long been described as being involved in the origin,adaption,and domes-tication of species.However,the underlying genetic and genomic mechanisms are poorly understood.Here,we report a high-quality genome assembly of Gossypium barbadense acc.Tanguis,a landrace that is closely related to formation of extra-long-staple(ELS)cultivated cotton.An SV-based pan-genome(Pan-SV)was then constructed using a total of 182593 non-redundant SVs,including 2236 inversions,97398 insertions,and 82959 deletions from 11 assembled genomes of allopolyploid cotton.The utility of this Pan-sV was then demonstrated through population structure analysis and genome-wide association studies(GWASs).Using segregation mapping populations produced through crossing ELS cotton and the landrace along with an Sv-based GWAs,certain SVs responsible for speciation,domestication,and improvement in tetraploid cottons were identified.Importantly,some of the SVs presently identified as associated with the yield and fiber quality improvement had not been identified in previous SNP-based GWAS.In particular,a 9-bp insertion or deletion was found to associate with elimination of the interspecific reproductive isolation between Gossypium hirsutum and G.barbadense.Collectively,this study provides new insights into genome-wide,gene-scale SVs linked to important agronomic traits in a major crop spe-cies and highlights the importance of sVs during the speciation,domestication,and improvement of culti-vated crop species. 展开更多
关键词 genome assembly structural variations SV-based pan-genome GWAS INTROGRESSION QTL mapping
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食源性单增李斯特菌与英诺克李斯特菌基因组特征比较 被引量:1
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作者 张璟 兰光 +4 位作者 申艳琴 闫静 刘小菊 王伟 肖晶 《中国食品卫生杂志》 CSCD 北大核心 2024年第2期113-119,共7页
目的通过全基因组测序对甘肃省市售食品中分离的单增李斯特菌和英诺克李斯特菌基因组特征进行比较分析。方法收集2021—2022年甘肃省市售食品中分离的25株单增李斯特菌和7株英诺克李斯特菌作为研究对象,对菌株进行全基因组测序,分析其... 目的通过全基因组测序对甘肃省市售食品中分离的单增李斯特菌和英诺克李斯特菌基因组特征进行比较分析。方法收集2021—2022年甘肃省市售食品中分离的25株单增李斯特菌和7株英诺克李斯特菌作为研究对象,对菌株进行全基因组测序,分析其系统发育谱系、克隆复合群(CC)、序列型(ST)、毒力基因、抗性基因及泛基因组。结果32株李斯特菌分属单增李斯特菌谱系Ⅰ和Ⅱ及英诺克李斯特菌3个群,单增李斯特菌分为10个亚群,英诺克李斯特菌分为5个亚群,与CC型保持一致,核心基因组多位点序列分型能将各谱系中不同CC型的菌株明显分开,谱系Ⅰ与英诺克李斯特菌的进化关系更近。25株单增李斯特菌均携带李斯特菌毒力岛LIPI-1和内化素基因,不携带LIPI-3,有2株ST87型菌株携带LIPI-4;7株英诺克李斯特菌均不携带LIPI-1和内化素基因,均携带LIPI-4,有5株菌携带LIPI-3。单增李斯特菌有16株携带SSI-1、3株携带SSI-2,7株英诺克李斯特菌均不携带SSI-1,有6株携带SSI-2。李斯特菌的泛基因组大小随着测序基因组数目的增加呈现线性增多,25株单增李斯特菌当菌株数量达到15后核心基因数目稳定在2272个,占泛基因组基因数目的46.2%,25株单增李斯特菌和7株英诺克李斯特菌共同的核心基因1487个,当菌株数量达到10后数目趋于稳定。结论核心基因组多位点序列分型可将不同谱系不同克隆复合群的李斯特菌进行区分,英诺克李斯特菌与单增李斯特菌生化特性相似与其亲缘关系相近有关,致病性差异与英诺克李斯特菌缺失单增李斯特菌特有的毒力基因相关。 展开更多
关键词 单增李斯特菌 英诺克李斯特菌 全基因组测序 毒力基因 泛基因组
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2008-2022年福建省O1群霍乱弧菌人源株基因组特征研究
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作者 柯自立 张小玄 +5 位作者 徐海滨 高亚东 罗朝晨 黄梦颖 邱玉锋 杨劲松 《中国人兽共患病学报》 CAS CSCD 北大核心 2024年第8期708-715,共8页
目的了解福建省O1群霍乱弧菌人源株基因组特征,为深入开展霍乱分子流行病学研究提供依据。方法收集2008-2022年福建省霍乱病例和带菌者来源O1群霍乱弧菌16株,肉汤稀释法检测抗生素最小抑菌浓度(MIC)。运用二代测序技术得到全基因组序列... 目的了解福建省O1群霍乱弧菌人源株基因组特征,为深入开展霍乱分子流行病学研究提供依据。方法收集2008-2022年福建省霍乱病例和带菌者来源O1群霍乱弧菌16株,肉汤稀释法检测抗生素最小抑菌浓度(MIC)。运用二代测序技术得到全基因组序列;利用snippy、Roary、Prokka等开源软件及NCBI、BacWGSTdb等在线分析网站进行核心基因组多位点序列分型(cgMLST)、核心基因组单核苷酸多态性分析(cgSNP)、毒力基因和耐药基因预测、泛基因组多样性的分析。结果福建省霍乱弧菌分为5个ST(sequence type)型别,其中新发现的ST182和ST1480型是当前我国优势克隆群ST75型的进化分支,并与2010年和2013年的台湾株高度同源。产毒株和非产毒株均不同程度地携带各种毒力因子并发生变异;预测出7大类13个耐药基因,其中黏菌素类、四环素类耐药基因携带情况与耐药表型一致。泛基因组学分析发现霍乱弧菌拥有1个开放的泛基因组,Roary聚类分析表现出比cgMLST更高的分辨率。结论福建省O1群霍乱弧菌人源株的基因组结构和功能具有多态性,新发的ST1480型克隆群具有流行潜力,需加强对此类菌株的监测。 展开更多
关键词 霍乱弧菌 全基因组测序 生物信息学分析 核心基因组多位点序列分型 泛基因组
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Insights into genetic diversity and phenotypic variations in domestic geese through comprehensive population and pan-genome analysis 被引量:1
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作者 Guangliang Gao Hongmei Zhang +5 位作者 Jiangping Ni Xianzhi Zhao Keshan Zhang Jian Wang Xiangdong Kong Qigui Wang 《Journal of Animal Science and Biotechnology》 SCIE CAS CSCD 2024年第1期88-107,共20页
Background Domestic goose breeds are descended from either the Swan goose(Anser cygnoides)or the Greylag goose(Anser anser),exhibiting variations in body size,reproductive performance,egg production,feather color,and ... Background Domestic goose breeds are descended from either the Swan goose(Anser cygnoides)or the Greylag goose(Anser anser),exhibiting variations in body size,reproductive performance,egg production,feather color,and other phenotypic traits.Constructing a pan-genome facilitates a thorough identification of genetic variations,thereby deepening our comprehension of the molecular mechanisms underlying genetic diversity and phenotypic variability.Results To comprehensively facilitate population genomic and pan-genomic analyses in geese,we embarked on the task of 659 geese whole genome resequencing data and compiling a database of 155 RNA-seq samples.By constructing the pan-genome for geese,we generated non-reference contigs totaling 612 Mb,unveiling a collection of 2,813 novel genes and pinpointing 15,567 core genes,1,324 softcore genes,2,734 shell genes,and 878 cloud genes in goose genomes.Furthermore,we detected an 81.97 Mb genomic region showing signs of genome selection,encompassing the TGFBR2 gene correlated with variations in body weight among geese.Genome-wide association studies utilizing single nucleotide polymorphisms(SNPs)and presence-absence variation revealed significant genomic associations with various goose meat quality,reproductive,and body composition traits.For instance,a gene encoding the SVEP1 protein was linked to carcass oblique length,and a distinct gene-CDS haplotype of the SVEP1 gene exhibited an association with carcass oblique length.Notably,the pan-genome analysis revealed enrichment of variable genes in the“hair follicle maturation”Gene Ontology term,potentially linked to the selection of feather-related traits in geese.A gene presence-absence variation analysis suggested a reduced frequency of genes associated with“regulation of heart contraction”in domesticated geese compared to their wild counterparts.Our study provided novel insights into gene expression features and functions by integrating gene expression patterns across multiple organs and tissues in geese and analyzing po 展开更多
关键词 Gene-CDS haplotype Goose GWAS pan-genome Presence-absence variation Selection signal
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A graph-based pan-genome of Brassica oleracea provides new insights into its domestication and morphotype diversification 被引量:1
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作者 Ning Guo Shenyun Wang +13 位作者 Tianyi Wang Mengmeng Duan Mei Zong Liming Miao Shuo Han Guixiang Wang Xin Liu Deshuang Zhang Chengzhi Jiao Hongwei Xu Liyang Chen Zhangjun Fei Jianbin Li Fan Liu 《Plant Communications》 SCIE CSCD 2024年第2期261-278,共18页
The domestication of Brassica oleracea has resulted in diverse morphological types with distinct patterns of organ development.Here we report a graph-based pan-genome of B.oleracea constructed from high-quality genome... The domestication of Brassica oleracea has resulted in diverse morphological types with distinct patterns of organ development.Here we report a graph-based pan-genome of B.oleracea constructed from high-quality genome assemblies of different morphotypes.The pan-genome harbors over 200 structural variant hotspot regions enriched in auxin-andflowering-related genes.Population genomic analyses revealed that early domestication of B.oleracea focused on leaf or stem development.Geneflows resulting from agricultural practices and variety improvement were detected among different morphotypes.Selective-sweep and pan-genome analyses identified an auxin-responsive small auxin up-regulated RNA gene and a CLAV-ATA3/ESR-RELATED family gene as crucial players in leaf–stem differentiation during the early stage of B.oleracea domestication and the BoKAN1 gene as instrumental in shaping the leafy heads of cabbage and Brussels sprouts.Our pan-genome and functional analyses further revealed that variations in the BoFLC2 gene play key roles in the divergence of vernalization andflowering characteristics among different morphotypes,and variations in thefirst intron of BoFLC3 are involved infine-tuning theflowering process in cauliflower.This study provides a comprehensive understanding of the pan-genome of B.oleracea and sheds light on the domestication and differential organ development of this globally important crop species. 展开更多
关键词 Brassica oleracea graph-based pan-genome structural variants SV DOMESTICATION morphotype diversification
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A centromere map based on super pan-genome highlights the structure and function of rice centromeres 被引量:1
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作者 Yang Lv Congcong Liu +32 位作者 Xiaoxia Li Yueying Wang Huiying He Wenchuang He Wu Chen Longbo Yang Xiaofan Dai Xinglan Cao Xiaoman Yu Jiajia Liu Bin Zhang Hua Wei Hong Zhang Hongge Qian Chuanlin Shi Yue Leng Xiangpei Liu Mingliang Guo Xianmeng Wang Zhipeng Zhang Tianyi Wang Bintao Zhang Qiang Xu Yan Cui Qianqian Zhang Qiaoling Yuan Noushin Jahan Jie Ma Xiaoming Zheng Yongfeng Zhou Qian Qian Longbiao Guo Lianguang Shang 《Journal of Integrative Plant Biology》 SCIE CAS CSCD 2024年第2期196-207,共12页
Rice(Oryza sativa)is a significant crop worldwide with a genome shaped by various evolutionary factors.Rice centromeres are crucial for chromosome segregation,and contain some unreported genes.Due to the diverse and c... Rice(Oryza sativa)is a significant crop worldwide with a genome shaped by various evolutionary factors.Rice centromeres are crucial for chromosome segregation,and contain some unreported genes.Due to the diverse and complex centromere region,a comprehensive understanding of rice centromere structure and function at the population level is needed.We constructed a high-quality centromere map based on the rice super pangenome consisting of a 251-accession panel comprising both cultivated and wild species of Asian and African rice.We showed that rice centromeres have diverse satellite repeat CentO,which vary across chromosomes and subpopulations,reflecting their distinct evolutionary patterns.We also revealed that long terminal repeats(LTRs),especially young Gypsy-type LTRs,are abundant in the peripheral CentO-enriched regions and drive rice centromere expansion and evolution.Furthermore,high-quality genome assembly and complete telomere-to-telomere(T2T)reference genome enable us to obtain more centromeric genome information despite mapping and cloning of centromere genes being challenging.We investigated the association between structural variations and gene expression in the rice centromere.A centromere gene,OsMAB,which positively regulates rice tiller number,was further confirmed by expression quantitative trait loci,haplotype analysis and clustered regularly interspaced palindromic repeats(CRISPR)/CRISPR-associated protein9 methods.By revealing the new insights into the evolutionary patterns and biological roles of rice centromeres,our finding will facilitate future research on centromere biology and crop improvement. 展开更多
关键词 CENTROMERE super pan-genome CentoO satellite repeat RICE
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大豆泛基因组研究进展 被引量:1
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作者 刘羽诚 申妍婷 田志喜 《遗传》 CAS CSCD 北大核心 2024年第3期183-198,共16页
人工驯化为农业发展提供了原始驱动力,也深刻地改变了许多动植物的遗传背景。伴随组学大数据理论和技术体系的发展,作物基因组研究已迈入泛基因组时代。借助泛基因组的研究思路,通过多基因组间的比较和整合,能够评估物种遗传信息上界和... 人工驯化为农业发展提供了原始驱动力,也深刻地改变了许多动植物的遗传背景。伴随组学大数据理论和技术体系的发展,作物基因组研究已迈入泛基因组时代。借助泛基因组的研究思路,通过多基因组间的比较和整合,能够评估物种遗传信息上界和下界,认知物种的遗传多样性全貌。此外,将泛基因组与染色体大尺度结构变异、群体高通量测序及多层次组学数据相结合,可以进行更为深入的性状-遗传机制解析。大豆(Glycine max(L.)Merr.)是重要的粮油经济作物,大豆产能关乎国家粮食安全。对大豆遗传背景形成、重要农艺性状关键位点的解析,是实现更高效的大豆育种改良的前提。本文首先对泛基因组学的核心问题进行了阐述,解释了从头组装/比对组装、迭代式组装和图基因组等泛基因组研究策略的演变历程和各自特征;接着对作物泛基因组研究的热点问题进行了概括,并且以大豆为例详细阐释了包括类群选择、泛基因组构建、数据挖掘等方面在内的泛基因组研究的开展思路,着重说明染色体结构变异在大豆演化/驯化历程中的贡献及其在农艺性状遗传基础挖掘上的价值;最后讨论了图泛基因组在数据整合、结构变异计算方面的应用前景。本文对作物泛基因组未来的发展趋势进行了展望,以期为作物基因组学及数据科学研究提供参考。 展开更多
关键词 大豆 泛基因组 结构变异 演化 驯化
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360度群体遗传变异扫描——大豆泛基因组研究 被引量:4
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作者 祝光涛 黄三文 《植物学报》 CAS CSCD 北大核心 2020年第4期403-406,共4页
大豆(Glycinemax)是重要的油料和蛋白作物,其丰富的遗传变异为生物学性状挖掘和育种改良提供了重要的资源基础。然而,单个基因组信息无法全面揭示种质资源的遗传变异,泛基因组研究为解决这一不足提供了新方案。近日,中国科学院遗传与发... 大豆(Glycinemax)是重要的油料和蛋白作物,其丰富的遗传变异为生物学性状挖掘和育种改良提供了重要的资源基础。然而,单个基因组信息无法全面揭示种质资源的遗传变异,泛基因组研究为解决这一不足提供了新方案。近日,中国科学院遗传与发育生物学研究所田志喜和梁承志研究团队从2898份大豆种质中选取26份代表性材料,并整合已有的3个基因组,构建了包含野生和栽培大豆的泛基因组和图基因组(graph-basedgenome),鉴定了整个群体的绝大多数结构变异数据集,确定了大豆种质的核心、非必需和个体特异的基因集。利用这些数据系统地揭示了生育期位点E3的等位基因变异和基因融合事件、种皮颜色基因I的单体型和演化关系以及结构变异对铁离子转运基因表达和地区适应性选择的影响。该研究为作物基因组学研究提供了一个新的模式,同时将加速推动大豆遗传变异的鉴定、性状解析和种质创新。 展开更多
关键词 大豆 泛基因组 图基因组 遗传变异 农艺性状
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人类参考基因组的过去和将来
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作者 汪洋 张咪 黄杰 《分子诊断与治疗杂志》 2024年第10期1815-1818,共4页
人类基因组计划得益于Sanger DNA测序技术的出现,使得人类参考基因组的草图得以产生。随着测序技术的发展和改进,人类参考基因组不断升级和完善,最新版本为GRCh38.p14。端粒到端粒(Telomere-to-Telomere,T2T)联盟使用大规模并行测序和... 人类基因组计划得益于Sanger DNA测序技术的出现,使得人类参考基因组的草图得以产生。随着测序技术的发展和改进,人类参考基因组不断升级和完善,最新版本为GRCh38.p14。端粒到端粒(Telomere-to-Telomere,T2T)联盟使用大规模并行测序和单分子长读长测序技术完成了人类单倍体染色体的测序,这一成果可以作为新的参考依据。中国人完整二倍体基因组(CN1、YAO)的公布标志着参考基因组的进展。本文主要讨论人类参考基因组发展的历史过程、各个参考基因组版本情况与分析比较,并对其未来的发展趋势进行展望。 展开更多
关键词 参考基因组 GRCh38 CHM13 CN1 T2T-YAO 泛基因组
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铜绿假单胞菌降解烃类污染物的泛基因组分析 被引量:3
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作者 潘金程 李艳冰 +1 位作者 李晶 马艳玲 《应用与环境生物学报》 CAS CSCD 北大核心 2021年第5期1281-1288,共8页
铜绿假单胞菌是一种常见的烃类降解菌,在环境污染治理中具有广阔的应用前景.利用泛基因组对10株铜绿假单胞菌进行分析以深入了解其泛基因组特征、生物降解潜力及芳香族化合物降解中心途径.结果显示,铜绿假单胞菌的核心基因组大约包含492... 铜绿假单胞菌是一种常见的烃类降解菌,在环境污染治理中具有广阔的应用前景.利用泛基因组对10株铜绿假单胞菌进行分析以深入了解其泛基因组特征、生物降解潜力及芳香族化合物降解中心途径.结果显示,铜绿假单胞菌的核心基因组大约包含4923个基因,占泛基因组的56.2%.泛基因组分析表明其泛基因组即将闭合,说明分析的铜绿假单胞菌通过HGT获得新基因的能力较弱.核心基因组包含了大量ABC转运蛋白和双组分调节系统相关基因,氨基酸代谢(合成和降解)、鞭毛组装和生物膜相关基因也是核心基因组的一部分.核心基因的KEGG注释表明,铜绿假单胞菌主要通过4条中心途径来降解芳香族化合物:β-酮己二酸酯、高儿茶酸、尿黑酸和龙胆酸途径,同时还具有相对完整的烷烃羟化酶系统.根据GC含量及侧翼转座酶和整合酶可以得出结论,铜绿假单胞菌可通过HGT获得芳香族化合物降解相关因.本文对10株菌的泛基因组分析表明铜绿假单胞菌虽然通过横向转移获得新基因的频率较低,但是已拥有完整的烃类降解系统.该分析结果有助于了解铜绿假单胞菌群体的基因组成及基因组分特征,提供对其生物修复潜力及降解机制更进一步的认识. 展开更多
关键词 铜绿假单胞菌 泛基因组 核心基因 独特基因 生物降解
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