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Genome-wide investigation to assess copy number variants in the Italian local chicken population

Journal of Animal Science and Biotechnology 2024年第2期15卷 563-577页

作者： Filippo Cendron Martino Cassandro Mauro Penasa Department of Agronomy FoodNatural ResourcesAnimals and Environment(DAFNAE)University of PadovaViale Dell’Universita 1635020 LegnaroPDItaly Federazione Delle Associazioni Nazionali Di Razza E Specie Via XXIV Maggio 4300187 RomeItaly

Background Copy number variants(CNV)hold significant functional and evolutionary importance.Numerous ongoing CNV studies aim to elucidate the etiology of human diseases and gain insights into the population structure of livestock.High-density chips have enabled the detection of CNV with increased resolution,leading to the identification of even small CNV.This study aimed to identify CNV in local Italian chicken breeds and investigate their distribution across the genome.Results Copy number variants were mainly distributed across the first six chromosomes and primarily associated with loss type CNV.The majority of CNV in the investigated breeds were of types 0 and 1,and the minimum length of CNV was significantly larger than that reported in previous studies.Interestingly,a high proportion of the length of chromosome 16 was covered by copy number variation regions(CNVR),with the major histocompatibility complex being the likely cause.Among the genes identified within CNVR,only those present in at least five animals across breeds(n=95)were discussed to reduce the focus on redundant CNV.Some of these genes have been associated to functional traits in chickens.Notably,several CNVR on different chromosomes harbor genes related to muscle development,tissue-specific biological processes,heat stress resistance,and immune response.Quantitative trait loci(QTL)were also analyzed to investigate potential overlapping with the identified CNVR:54 out of the 95 gene-containing regions overlapped with 428 QTL associated to body weight and size,carcass characteristics,egg production,egg components,fat deposition,and feed intake.Conclusions The genomic phenomena reported in this study that can cause changes in the distribution of CNV within the genome over time and the comparison of these differences in CNVR of the local chicken breeds could help in preserving these genetic resources.

关键词： Chicken Copy number variant Conservation Local breed snp

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Combining genome-wide association study and transcriptome analysis to identify molecular markers and genetic basis of population-asynchronous ovarian development in Coilia nasus

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Zoological Research 2024年第3期45卷 491-505页

作者： Yue Yu Shi-Ming Wan Cheng-You Huang Shuang-Meng Zhang Ai-Li Sun Jun-Qi Liu Shun-Yao Li Yong-Fu Zhu Shu-Xin Gu Ze-Xia Gao College of Fisheries Hubei Hongshan Laboratory/Key Lab of Freshwater Animal BreedingMinistry of Agriculture and Rural Affairs/Engineering Research Center of Green Development for Conventional Aquatic Biological Industry in the Yangtze River Economic BeltMinistry of EducationHuazhong Agricultural UniversityWuhanHubei 430070China Laboratory for Marine Biology and Biotechnology Qingdao Marine Science and Technology CenterQingdaoShandong 266237China Wuhan Hengyuxin Technology Breeding Professional Cooperative WuhanHubei 430117China Hubei Provincial Aquatic Science Research Institute WuhanHubei 430208China Zhenjiang Jiangzhiyuan Fishery Technology Co. Ltd.ZhenjiangJiangsu 212213China

Coilia nasus,a migratory fish species found in the middle and lower reaches of the Yangtze River and along offshore areas of China,possesses considerable aquacultural and economic potential.However,the species faces challenges due to significant variation in the gonadal development rate among females,resulting in inconsistent ovarian maturation times at the population level,an extended reproductive period,and limitations on fish growth rate due to ovarian prematurity.In the present study,we combined genome-wide association study(GWAS)and comparative transcriptome analysis to investigate the potential single nucleotide polymorphisms(snps)and candidate genes associated with population-asynchronous ovarian development in C.nasus.Genotyping of the female population based on whole-genome resequencing yielded 2120695 high-quality snps,39 of which were suggestively associated with ovarian development.Of note,a significant snp peak on LG21 containing 30 suggestively associated snps was identified,with cpne5a determined as the causal gene of the peak.Therefore,single-marker and haplotype association analyses were performed on cpne5a,revealing four genetic markers(P0.9)significantly associated with the phenotype.Comparative transcriptome analysis of precociously and normally maturing individuals screened out 29 and 426 overlapping differentially expressed genes in the brain and ovary,respectively,between individuals of different body sizes.Integrating the GWAS and transcriptome analysis results,this study identified genes and pathways related to hypothalamic-pituitary-gonadal axis hormone secretion,extracellular matrix,angiogenesis,and gap junctions involved in population-asynchronous ovarian development.The insights gained from this study provide a basis for a deeper understanding of the molecular mechanisms underlying ovarian development in fish and may facilitate the genetic breeding of C.nasus strains exhibiting population-synchronous ovarian development in the future.

关键词： Coilia nasus GWAS Transcriptome Ovarian development snp

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Development of snp parentage assignment techniques in the yellowfin seabream Acanthopagrus latus

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Acta Oceanologica Sinica 2024年第2期43卷 151-155页

作者： Hongbo Zhao Liangmin Huang Jing Zhang Songyuan You Qingmin Zeng Xiande Liu Fisheries College of Jimei University Xiamen 361021China Key Laboratory of Healthy Mariculture for the East China Sea Ministry of Agriculture and Rural AffairsXiamen 361021China Bureau of Agriculture and Rural Affairs of Wudang District Guiyang CityGuizhou ProvinceGuiyang 550018China Fisheries Research Institute of Fujian Xiamen 361000China

Acanthopagrus latus is an essential aquaculture species on the south coast of China.However,there is a lack of systematic breeding of A.latus,which considerably limits the sustainable development of A.latus.As a result,genetic improvements are urgently needed to breed new strains of A.latus with rapid growth and strong resistance to disease.During selective breeding,it is necessary to estimate the genetic parameters of the target trait,which in turn depends on an accurate disentangled pedigree for the selective population.Therefore,it is necessary to establish the parentage assignment technique for A.latus.In this study,95 individuals selected from their parents and their 14 families were used as experimental material.snps were developed by genome resequencing,and highly polymorphic snps were screened on the basis of optimized filtering parameters.A total of 14392738 snps were discovered and 205 snps were selected for parentage assignment using the CERVUS software.In the model where the gender of the parents is known,the assignment success rate is 98.61%for the male parent,97.22%for the female parent,and 95.83%for the parent pair.In the model where the gender of the parents is unknown,the assignment success rate is 100%for a single parent and 90.28%for the parent pair.The results of this study were expected to serve as a reference for the breeding of new varieties of A.latus.

关键词： Acanthopagrus latus parentage assignment snp Genome re-sequencing

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New perspectives on the genetic structure of dotted gizzard shad(Konosirus punctatus)based on RAD-seq

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Marine Life Science & Technology 2024年第1期6卷 50-67页

作者： Ying Peng Yifan Liu Jiasheng Li Kun Zhang Xun Jin Sixu Zheng Yunpeng Wang Zhenming Lu Liqin Liu Li Gong Bingjian Liu National Engineering Laboratory of Marine Germplasm Resources Exploration and Utilization Zhejiang Ocean UniversityZhoushan 316022China National Engineering Research Center for Facilitated Marine Aquaculture Marine Science and Technology CollegeZhejiang Ocean UniversityZhoushan 316022China

To maintain,develop and rationally utilize marine organisms,understanding their genetic structure and habitat adaptation pattern is necessary.Konosirus punctatus,which is a commercial fish species inhabiting the Indo-west Pacific Ocean,has shown an obvious annual global capture and aquaculture production decline due to climate changes and human activities.In the present study,restriction-site associated DNA sequencing(RAD-seq)was used to describe its genome-wide single nucleotide polymorphisms panel(snps).Among 146 individuals collected at nine locations scattered in China,Korea and Japan,a set of 632,090 snps were identified.Population genetic analysis showed that K.punctatus individuals were divided into two significant genetic clusters.Meanwhile,potential genetic differentiation between northern and southern population of K.punctatus was found.Treemix results indicated that gene flow existed among sampling locations of K.punctatus,especially from southern Japan to others.Moreover,candidate genes associated with habitat adaptations of K.punctatus were identified,which are involved in diverse physiological processes of K.punctatus including growth and development(e.g.,KIDINS220,PAN3),substance metabolism(e.g.,PGM5)and immune response(e.g.,VAV3,CCT7,HSPA12B).Our findings may aid in understanding the possible mechanisms for the population genetic structure and local adaptation of K.punctatus,which is beneficial to establish the management and conservation units of K.punctatus,guiding the rational use of resources,with reference significance for a profound understanding of the adaptative mechanisms of other marine organisms to the environment.

关键词： Population structure Konosirus punctatus snp RAD-seq Local adaptation

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Genome wide association analysis identifies candidate genes for fruit quality and yield in Actinidia eriantha

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Journal of Integrative Agriculture 2024年第6期23卷 1929-1939页

作者： Yingzhen Wang Ying Wu Xinlei Wang Wangmei Ren Qinyao Chen Sijia Zhang Feng Zhang Yunzhi Lin Junyang Yue Yongsheng Liu School of Horticulture Anhui Agricultural UniversityHefei 230036China School of Forestry Science and Technology Lishui Vocational and Technical CollegeLishui 323000China College of Life Science Sichuan UniversityChengdu 610064China

Quality and yield are the primary concerns in kiwifruit breeding,but research on the genetic mechanisms of fruit size,shape,and ascorbic acid(ASA)content is currently very limited,which restricts the development of kiwifruit molecular breeding.In this study,we obtained a total of 8.88 million highly reliable single nucleotide polymorphism(snp)markers from 140 individuals from the natural hybrid offspring of Actinidia eriantha cv.‘White’using whole genome resequencing technology.A genome-wide association study was conducted on eight key agronomic traits,including single fruit weight,fruit shape,ASA content,and the number of inflorescences per branch.A total of 59 genetic loci containing potential functional genes were located,and candidate genes related to single fruit weight,fruit length,ASA content,number of inflorescences per branch and other traits were identified within the candidate interval,such as AeWUSCHEL,AeCDK1(cell cycle dependent kinase),AeAO1(ascorbic oxidase)and AeCO1(CONSTANS-like 4).After constructing an RNAi vector for AeAO1 and injecting it into the fruit of cv.‘Midao 31’to interfere with the expression of the AeAO1 gene,the results showed that the activity of ascorbic oxidase in the fruit of‘Midao 31’significantly decreased,while the content of ASA significantly increased.This study provides valuable insights into the genetic basis of variation in A.eriantha fruit traits,which may benefit molecular marker-assisted breeding efforts.

关键词： Actinidia eriantha GWAS snp QTLs fruit quality

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Comparative Study of Genetic Structure and Genetic Diversity betweenWild and Cultivated Populations of Taxus cuspidata,Northeast China

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Phyton-International Journal of Experimental Botany 2024年第2期93卷 355-369页

作者： Dandan Wang Xiaohong Li Yanwen Zhang School of Science Liaodong UniversityDandong118003China

Taxus cuspidata is a rare plant with important medicinal and ornamental value.Aiming at the obvious differences between wild and cultivated populations of T.cuspidata from Northeast China,a total of 61 samples,that is,33 wild yews and 28 cultivated yews were used to analyze the differences and correlations of the kinship,genetic diversity,and genetic structure between them by specific length amplified fragment sequencing(SLAF-seq).Finally,470725 polymorphic SLAF tags and 58622 valid snp markers were obtained.Phylogenetic analysis showed that 61 samples were classified into 2 clusters:wild populations and cultivated populations,and some wild yews were categorized into the cultivated populations;the genetic diversity analysis showed that the Nei diversity index of wild populations(0.4068)was smaller than that of cultivated populations(0.4414),and the polymorphic information content(PIC)of wild populations(0.2861)was smaller than that of cultivated populations(0.3309).The genetic differentiation analysis showed that the total populations of gene diversity(H_(t))of cultivated and wild populations were respectively 0.8159 and 0.5685,the coefficient of gene differentiation(G_(st))of cultivated and wild populations was respectively 0.3021 and 0.1068,and the gene flow(N_(m))(2.4967)of wild populations was larger than cultivated populations(0.8199).The molecular variance(AMOVA)revealed that inter-population variation accounted for 29.57%of the total genetic variation,while intra-population variation accounted for 70.42% of the total genetic variation(p<0.001),this suggested that the genetic variation in the T.cuspidata is mainly attributed to within-population factors.In conclusion,the genetic distance between geographical ecological groups of wild populations was generally smaller than that of cultivated populations,and the degree of genetic diversity and genetic differentiation was smaller than that of cultivated populations.As evident,the utilization of SLAF-seq technology enables efficient and accurate development of

关键词： T.cuspidata SLAF-seq snp wild population cultivated population genetic structure

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基于RAD-seq的大口黑鲈选育群体快长snp挖掘及其与生长性状的关联分析

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中国水产科学 2024年第3期31卷 241-256页

作者：华吉祥陶易凡李岩王庆春陈文华诸葛燕张茂友董亚伦路思琪姜冰洁强俊南京农业大学无锡渔业学院中国水产科学研究院淡水渔业研究中心农业农村部淡水渔业与种质资源利用重点实验室苏州市水产技术推广站

大口黑鲈(Micropterussalmoides)生长性状是衡量品质与产量的重要标准,开发快长snp标记与挖掘优势基因型及生长主效基因,有助于进一步解析其生长发育遗传机制,为选育优质高产新品系奠定基础。基于简化基因组测序技术(restriction-site a... 详细信息

大口黑鲈(Micropterussalmoides)生长性状是衡量品质与产量的重要标准,开发快长snp标记与挖掘优势基因型及生长主效基因,有助于进一步解析其生长发育遗传机制,为选育优质高产新品系奠定基础。基于简化基因组测序技术(restriction-site associated DNA sequencing, RAD-seq),在大口黑鲈美国北方亚种F0生长性状极端群体(体重极大前1%和极小后1%)中,筛选了与生长性状存在潜在关联的snp位点,利用一般线性模型(generalizedlinear model, GLM)将snp位点基因型与230尾F0个体的体重、体长、体高和体厚进行相关性分析,此外通过基因注释信息预测生长候选基因,并结合优势基因型加性效应分析优势基因型聚合效果。在大口黑鲈23条染色体上发现了4196486个高质量snps,基于种群特异基因型频率阈值0.7,初步筛选出100个与生长性状潜在相关的snp位点。关联性分析显示,有12个snp标记存在显著关联,包括5个标记与体重显著关联, 10个与体长显著关联, 4个与体高显著关联, 5个与体厚显著关联。其中标记snp19140160、snp24406191、snp3355498和snp9244620分别定位至生长候选基因fam174b、diaph2、kiaa1549lb和ppip5k1b上。富集6～10个优势基因型的群体较富集0～5个优势基因型的群体在平均体重、体长、体高和体厚上分别提高了32.07%、9.63%、9.96%和10.58%。本研究所鉴定的12个快长snp标记和4个生长候选基因可助力大口黑鲈生长性状改良。

关键词：大口黑鲈简化基因组测序 snp 生长性状优势基因型

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吉林省玉米种质资源SSR和snp分子身份证的构建及应用

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中国农业科学 2024年第2期57卷 236-249页

作者：张茗起王蕊张春宵孙擘任洁李淑芳王璐朱少喜张江斌施昕晨王海杰张云龙田红丽赵怡锟匡猛王元东易红梅李晓辉王凤格北京市农林科学院玉米研究所/农业农村部农作物DNA指纹创新利用重点实验室(部省共建)/玉米DNA指纹及分子育种北京市重点实验室中国农业科学院棉花研究所/棉花生物学国家重点实验室吉林省农业科学院玉米研究所吉林省农业科学院作物资源研究所

【目的】农作物种质资源具有重要的战略地位。吉林省玉米种质资源库主要存储具有北方春玉米区特色的种质资源。鉴于在传统农作物种质资源管理过程中难以获取真实身份信息的现状，利用分子标记技术构建种质资源分子身份证可以有效鉴定种... 详细信息

【目的】农作物种质资源具有重要的战略地位。吉林省玉米种质资源库主要存储具有北方春玉米区特色的种质资源。鉴于在传统农作物种质资源管理过程中难以获取真实身份信息的现状，利用分子标记技术构建种质资源分子身份证可以有效鉴定种质资源真实身份，强化种质资源的分类管理。通过深度发掘吉林省玉米种质资源库的优异资源，推动共享利用。【方法】以吉林省玉米种质资源库中的2 918份玉米种质资源为研究对象，采用玉米品种鉴定检测标准中推荐的40对SSR标记，以及61 214个snp标记来构建其分子身份证。根据获得的分子身份证信息将种质资源划分为核心、同近源、异质和群体等类进行管理，并进一步针对核心种质进行遗传多样性分析。【结果】为2 918份种质资源构建了SSR分子身份证，为除异质性种质外的2 502份种质资源构建了snp分子身份证。分别制定了玉米种质资源SSR和snp分子身份证的建设规范。其中，SSR分子身份证由40个SSR位点指纹转化为三位数字和一位字母的编码组合构成，并以二维码形式存储；snp分子身份证由61 214个snp位点指纹转化为可视化的条形码。根据样品纯合度和指纹特异性等特征，将样品划分为1 561份核心类、705份同近源类、416份异质类及236份群体类种质资源。遗传多样性分析表明，以旅大红骨群、黄改群为代表的国内种质资源是该库的主要种质资源，占全部核心种质资源的64.38%。【结论】提出了玉米种质资源分子身份证构建流程，为吉林省玉米种质资源库2 918份种质资源构建了全部的SSR分子身份证和2 502份snp分子身份证；建立了核心、同近源、异质、群体四类种质资源筛选方案，实现了种质资源的分类管理。

关键词：玉米种质资源吉林 SSR snp 分子身份证

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茶树春梢萌发早晚关联基因CsAL1的CAPS分子标记开发

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茶叶科学 2024年第2期44卷 207-218页

作者：黄梦迪陈兰苏芹胡锦瑜刘桂芝谭月萍刘硕谦田娜茶学教育部重点实验室湖南长沙410128 湖南农业大学园艺学院茶学系湖南长沙410128 湖南省茶业集团股份有限公司湖南长沙410126

茶树(Camelliasinensis)作为一种叶用型经济植物,春梢萌发时间是关系茶叶经济价值的重要生物学性状。因此,选育茶树早生品种,对提升茶叶品质和经济效益具有重要的现实意义。以铁观音为参考基因组,通过全基因组关联分析,筛选到一个与茶... 详细信息

茶树(Camelliasinensis)作为一种叶用型经济植物,春梢萌发时间是关系茶叶经济价值的重要生物学性状。因此,选育茶树早生品种,对提升茶叶品质和经济效益具有重要的现实意义。以铁观音为参考基因组,通过全基因组关联分析,筛选到一个与茶树春梢萌发早晚高度相关的基因CsAL1(Auxilin-like 1,TGY040711)。运用snp calling获得CsAL1各样本的snps,将snps与其春梢萌发表型进行关联分析,获得与早生性状显著相关的snp位点。分析各snps的酶切位点,选择合适位点开发茶树早生性状相关CAPS分子标记。利用标记对12份茶树材料基因组DNA进行PCR扩增和酶切检测,随后在72份茶树材料中进一步验证,以期借助CAPS分子标记技术为探究CsAL1中单碱基位点突变与茶树早生性状的联系提供参考,为茶树早生品种的选育提供理论支撑。

关键词：茶树 snp CAPS分子标记早生分子标记育种

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利用PCR产物混池重测序检测梨褐皮关联SLAF标签多态性

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园艺学报 2024年第4期51卷 707-714页

作者：蒋爽王晓庆施春晖李水根骆军上海市农业科学院林木果树研究所上海市园艺重点实验室上海201403

在已知梨褐皮关联的SLAF标签(Marker286117)序列上存在4个snp位点,共有4个基因型(a~d)的基础上,使用PCR加混池重测序技术鉴定该SLAF标签在64个梨品种中的多态性。共获得7.1 Gb原始数据,通过编译的snp-rseq和Calculate程序对数据进行处理... 详细信息

在已知梨褐皮关联的SLAF标签(Marker286117)序列上存在4个snp位点,共有4个基因型(a~d)的基础上,使用PCR加混池重测序技术鉴定该SLAF标签在64个梨品种中的多态性。共获得7.1 Gb原始数据,通过编译的snp-rseq和Calculate程序对数据进行处理,64个梨样品获得的平均read数量为117642条,满足分析需求。在该SLAF标签上新发现2个基因型(e和f)。6个基因型中c为原始类型,在栽培种砂梨和白梨中鉴定到b、d和e基因型;a和f基因型则出现在拥有西方梨血统的样品中。对基因型和表型统计后发现,c基因型存在时,梨果皮为褐色,不含c基因型时为绿色。该规律不仅适用于东方梨,在西方梨的一些样品中也适用。混池重测序技术降低了测序成本,相关技术手段能够应用于简化重测序后续的验证和标记辅助育种。

关键词：梨 SLAF标签 snp 多态性重测序

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建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

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