Soybean seed isoflavones are a type of secondary metabolites that can provide health and nutrition benefits for humans. In our previous study, a stable quantitative trait locus(QTL) qIF05-1 controlling the seed isofla...Soybean seed isoflavones are a type of secondary metabolites that can provide health and nutrition benefits for humans. In our previous study, a stable quantitative trait locus(QTL) qIF05-1 controlling the seed isoflavone content in soybean was detected on chromosome(Chr.) 05 in a recombinant inbred line(RIL) population from a cross of Huachun 2×Wayao. In this study, the parental lines were re-sequenced using the Illumina Solexa System with deep coverage. A total of 63,099 polymorphic long insertions and deletions(InDels)(≥15 bp)were identified between the parents Huachun 2 and Wayao. The InDels were unevenly distributed on 20chromosomes of soybean, varying from 1,826 in Chr. 12 to 4,544 in Chr. 18. A total of 10,002 long InDels(15.85% of total) were located in genic regions, including 1,139 large-effect long InDels which resulted in truncated or elongated protein sequences. In the qIF05-1 region, 68 long InDels were detected between the two parents. Using a progeny recombination experiment and genotype analysis, the qIF05-1 locus was mapped into a 102.2 kb genomic region, and this region contained 12 genes. By RNA-seq data analysis, genome sequence comparison and functional validation through ectopic expression in Arabidopsis thaliana, Glyma.05G208300(described as GmEGL3), which is a basic helix-loop-helix(bHLH) transcription factor in plants, emerged as the most likely confirmed gene in qIF05-1. These long InDels can be used as a type of complementary genetic method for QTL fine mapping, and they can facilitate genetic studies and molecular-assisted selection breeding in soybean.展开更多
Somatic mutations accumulate with age in human tissues.Clonal amplifi-cation of some mutations causes cancers and other diseases.However,it is unclear if random mutation accumulation affects cellular function without ...Somatic mutations accumulate with age in human tissues.Clonal amplifi-cation of some mutations causes cancers and other diseases.However,it is unclear if random mutation accumulation affects cellular function without clonal amplification.We tested this in cell culture,avoiding the lim-itation that mutation accumulation in vivo leads to cancer.展开更多
Soybean(Glycine max L.)is a globally vital crop for oil production and food security.High-quality genomic resources are instrumental for both functional genomics and breeding.Here,we report a near-complete,high-qualit...Soybean(Glycine max L.)is a globally vital crop for oil production and food security.High-quality genomic resources are instrumental for both functional genomics and breeding.Here,we report a near-complete,high-quality genome assembly of the elite cultivar Tianlong 1(TL1),featuring fully resolved telomeres and centromeres,as well as a gap-free assembly of 14 of its 20 chromosomes.On the basis of the genome assembly,we generate an ethyl methanesulfonate(EMS)-mutagenized population comprising 2555 M7 plants.Whole-genome resequencing of 288 EMS mutants uncovers 1,163,869 high-confidence single-nucleotide polymorphisms(SNPs)and 542,709 insertions/deletions(InDels),achieving 91.89%coverage of predicted protein-coding genes.Phenotypic screening demonstrates robust genotype–phenotype associations,with two nonsynonymous mutants displaying pronounced defects in seed and leaf development.Collectively,the chromosome-scale TL1 genome assembly and the extensively characterized mutant population establish valuable resources for functional genomics and precision breeding in soybean and related legume species.展开更多
Genetic improvement of meat production traits has always been the primary goal of pig breeding.Geographical isolation,natural and artificial selection led to significant differences in the phenotypes of meat productio...Genetic improvement of meat production traits has always been the primary goal of pig breeding.Geographical isolation,natural and artificial selection led to significant differences in the phenotypes of meat production traits between Chinese local pigs and Western commercial pigs.Comparative genomics and transcriptomics analysis provided powerful tools to identify genetic variants and genes associated with skeletal muscle growth.However,the number of available genetic variants and genes are still limited.In this study,a comprehensive comparison of transcriptomes showed that ribosomal protein S27-like(RPS27L)gene was highly expressed in skeletal muscle and up-regulated in Chinese local pigs when compared with Western commercial pigs.Functional analysis revealed that overexpression of RPS27L promoted myoblast proliferation and repressed differentiation in pig skeletal muscle cells.Conversely,the knockdown of RPS27L led to the inhibition of myoblast proliferation and the promotion of differentiation.Notably,a 13-bp insertion-deletion(InDel)mutation was identified within the RPS27L promoter,inserted in Chinese local breeds and predominantly deleted in Western commercial breeds.Luciferase reporter assay suggested this InDel modulated RPS27L expression by influencing transcription factor 3(TCF3)and myogenic differentiation antigen(MYOD)binding to the promoter.Furthermore,a positive correlation was observed between RPS27L expression and backfat thickness.Association studies demonstrated this InDel was significantly associated with the body weight of pigs at the age of 240 d.Together,our results suggested that RPS27L was a regulator of skeletal muscle development and growth,and was a candidate marker for improving meat production traits in pigs.This study not only provided a biomarker for animal breeding,but also was helpful for understanding skeletal muscle development and muscular disease in humans.展开更多
海南是我国中粒咖啡规模化种植的起源地和优势产区,然而由于种质资源遗传背景不清,制约了良种选育与产业竞争力提升。因此,明确中粒咖啡种质资源的遗传多样性,构建核心种质资源库,将为高效育种和海南咖啡品牌建设提供遗传基础。本研究...海南是我国中粒咖啡规模化种植的起源地和优势产区,然而由于种质资源遗传背景不清,制约了良种选育与产业竞争力提升。因此,明确中粒咖啡种质资源的遗传多样性,构建核心种质资源库,将为高效育种和海南咖啡品牌建设提供遗传基础。本研究基于项目组前期获得的二代重测序数据,经过序列比对和筛选共开发44对InDel分子标记,对51份中粒咖啡种质进行遗传多样性分析、群体结构分析和聚类分析,筛选核心种质并构建指纹图谱。结果表明:37对InDel分子标记具有多态性和适用性,91.89%的标记具有高或中等多态信息含量(polymorphic information content,PIC),有效等位基因数(effective number of alleles,Ne)、Nei’s基因多样性指数(H')和Shannon’s多样性指数(I)的数值均表明该群体在所选标记上具有较高的遗传多样性。该群体的个体间遗传背景差异显著,遗传相似系数范围较广(0.2632~0.7632),遗传距离较大(0.2364~1.3350)。通过Structure分析和聚类分析,均一致地将该群体划分为2个独立的遗传类群,表明该群体内存在明显的遗传分化。在该群体中筛选出10份核心种质,在主成分分析(principal component analysis,PCA)图中呈集中分布,代表性强,遗传冗余度低。优选InDel 12、InDel 18、InDel 31和InDel 33的4个高多态性标记构建51份种质的指纹图谱,实现种质资源的精准鉴别与数字化高效管理。本研究开发了一套适用于中粒咖啡的InDel标记体系,基于多态性分析构建核心种质库与高效指纹鉴别系统,为种质资源精准管理、品种定向改良及知识产权保护提供方法与资源基础。展开更多
陕北白绒山羊是我国特色绒肉兼用型山羊品种,其生长性状遗传改良进程相对滞后且表型稳定性不足,亟待筛选与生长性状关联的高效分子标记以加速陕北白绒山羊高效选育。成纤维细胞生长因子受体1(FGFR1)作为调控细胞增殖与分化的关键基因,...陕北白绒山羊是我国特色绒肉兼用型山羊品种,其生长性状遗传改良进程相对滞后且表型稳定性不足,亟待筛选与生长性状关联的高效分子标记以加速陕北白绒山羊高效选育。成纤维细胞生长因子受体1(FGFR1)作为调控细胞增殖与分化的关键基因,其遗传变异可能影响山羊生长性能。因此,本研究旨在探究FGFR1在陕北白绒山羊各组织中的表达水平,分析FGFR1 Indel变异与陕北白绒山羊生长性状的相关性。以1332只成年陕北白绒山羊为对象,采集耳组织与14种组织样本,通过PCR扩增和琼脂糖凝胶电泳检测FGFR1基因InDel分型,利用qRT-PCR分析组织表达谱,并通过一般线性模型分析基因型与生长性状的关联性。结果显示,FGFR1基因在各组织中广泛表达,其中睾丸和大脑表达水平显著高于其它组织(P<0.05);群体遗传变异检测到P5位点存在22 bp InDel多态性,形成纯合插入型(Ⅱ,220 bp)、杂合型(ID,220/198 bp)及纯合缺失型(DD,198 bp)三种基因型,等位基因频率分别为0.822(I)和0.178(D),群体多态信息含量(PIC)为0.25,属中度多态(0.25≤PIC≤0.5);关联分析结果显示,II和ID基因型个体的胸围显著大于DD型(P<0.05),而ID型绒细度显著低于其他基因型(P<0.05)。综上所述,FGFR1基因22 bp InDel变异可作为陕北白绒山羊胸围与绒细度的候选分子标记。本研究为山羊分子标记辅助选择提供了理论依据,对加快绒山羊遗传改良进程具有重要意义。展开更多
Optimizing plant architecture is essential for improving mechanized harvesting and yield potential in peanut(Arachis hypogaea L.),yet its genetic basis remains unclear.This study aimed to identify stable major-effect ...Optimizing plant architecture is essential for improving mechanized harvesting and yield potential in peanut(Arachis hypogaea L.),yet its genetic basis remains unclear.This study aimed to identify stable major-effect QTL associated with main stem length,basal branch length,and the main stem length to basal branch length ratio,and to predict candidate genes using gene expression data and genome sequencing.A previously constructed population of recombinant inbred lines(RIL)derived from a cross between erect-type JH5 and bunch-type KX01-6 was evaluated across three field environments.Statistical analysis identified six QTL with LOD scores ranging from 3.27 to 9.77,explaining 6.14%-24.14%of the phenotypic variation.Among them,qMSL_B09,qBBL_B09,qBBL_B05,and qMBR_B05 were identified in at least two environments.By integrating QTL analysis based on Best Linear Unbiased Prediction(BLUP)values,we narrowed these four stable QTL to two loci,Rpa1(Regulating plant architecture 1)and Rph1(Regulating plant height 1)that were delimited to a~6.840 Mb region(B05:154.040 Mb to the end)and a~400 kb physical interval(B09:158.05-158.45 Mb),respectively.Phenotypic validation using near-isogenic lines(NILs)demonstrated that Rpa1 increased basal branch length by 27.22%and branch angle by 140.08%,while reducing the main stem-to-branch ratio by 22.91%.In contrast,Rph1 decreased main stem length by 42.31%and basal branch length by 46.84%.Map-based cloning of Rph1 identified an 1816-bp deletion in parental line JH5 that influenced the expression of two candidate genes:Ah19g561300(encoding a bifunctional inhibitor/lipid-transfer protein)and Ah19g561500(encoding a proteasome subunit).A diagnostic InDel marker to facilitate marker-assisted selection for ideal plant height in breeding programs was developed to track the deletion.Haplotype analysis of 241 accessions confirmed the association of Rph1 with plant architecture,and accessions carrying Hap~(rph1)exhibited significantly higher main stem and basal branch lengths(by~10%;P<0.01).These findings provide novel genetic insights and molecular tools for improving plant architecture and enhancing yield potential in peanut.展开更多
基金supported by the China Agriculture Research System of MOF and MARA(CARS-04-PS12)the Research and Development Program in the Key-Areas of Guangdong Province,China(2020B020220008)the Guangdong Agricultural Research System,China(2023KJ136-03).
摘要Soybean seed isoflavones are a type of secondary metabolites that can provide health and nutrition benefits for humans. In our previous study, a stable quantitative trait locus(QTL) qIF05-1 controlling the seed isoflavone content in soybean was detected on chromosome(Chr.) 05 in a recombinant inbred line(RIL) population from a cross of Huachun 2×Wayao. In this study, the parental lines were re-sequenced using the Illumina Solexa System with deep coverage. A total of 63,099 polymorphic long insertions and deletions(InDels)(≥15 bp)were identified between the parents Huachun 2 and Wayao. The InDels were unevenly distributed on 20chromosomes of soybean, varying from 1,826 in Chr. 12 to 4,544 in Chr. 18. A total of 10,002 long InDels(15.85% of total) were located in genic regions, including 1,139 large-effect long InDels which resulted in truncated or elongated protein sequences. In the qIF05-1 region, 68 long InDels were detected between the two parents. Using a progeny recombination experiment and genotype analysis, the qIF05-1 locus was mapped into a 102.2 kb genomic region, and this region contained 12 genes. By RNA-seq data analysis, genome sequence comparison and functional validation through ectopic expression in Arabidopsis thaliana, Glyma.05G208300(described as GmEGL3), which is a basic helix-loop-helix(bHLH) transcription factor in plants, emerged as the most likely confirmed gene in qIF05-1. These long InDels can be used as a type of complementary genetic method for QTL fine mapping, and they can facilitate genetic studies and molecular-assisted selection breeding in soybean.
基金supported by the American Federation for Aging Research(the Sagol Network GerOmic Award for Junior Faculty)the US National Institutes of Health(P01AG017242,P01 AG047200,P01 AI172501,P01HL132825,P01 HL160476,P30 AG038072,R00 AG056656,U01 ES029519,U01 HL145560,and U19 AG056278)+2 种基金the University of Minnesota(Fesler-Lampert Chair for Aging Studies)the Veteran’s Affairs Medical Center of Boston(36C24122N0769)the European Union’s Horizon 2020 Research and Innovation Programme(810115-DYNASNET).
摘要Somatic mutations accumulate with age in human tissues.Clonal amplifi-cation of some mutations causes cancers and other diseases.However,it is unclear if random mutation accumulation affects cellular function without clonal amplification.We tested this in cell culture,avoiding the lim-itation that mutation accumulation in vivo leads to cancer.
基金supported by the National Natural Science Foundation of China(31970344)Joint Funds of the Natural Science Foundation of Hainan Province,China(2021JJLH0065).
摘要Soybean(Glycine max L.)is a globally vital crop for oil production and food security.High-quality genomic resources are instrumental for both functional genomics and breeding.Here,we report a near-complete,high-quality genome assembly of the elite cultivar Tianlong 1(TL1),featuring fully resolved telomeres and centromeres,as well as a gap-free assembly of 14 of its 20 chromosomes.On the basis of the genome assembly,we generate an ethyl methanesulfonate(EMS)-mutagenized population comprising 2555 M7 plants.Whole-genome resequencing of 288 EMS mutants uncovers 1,163,869 high-confidence single-nucleotide polymorphisms(SNPs)and 542,709 insertions/deletions(InDels),achieving 91.89%coverage of predicted protein-coding genes.Phenotypic screening demonstrates robust genotype–phenotype associations,with two nonsynonymous mutants displaying pronounced defects in seed and leaf development.Collectively,the chromosome-scale TL1 genome assembly and the extensively characterized mutant population establish valuable resources for functional genomics and precision breeding in soybean and related legume species.
基金supported by the Sustainable Development Special Project from Shenzhen,China(KCXFZ20201221173213037)the National Natural Science Foundation of China(32172697 and U23A20229)+1 种基金the Guangdong Provincial Natural Science Foundation(2021A1515011336)the Agricultural Science and Technology Innovation Program,China(CAASZDRW202406)。
摘要Genetic improvement of meat production traits has always been the primary goal of pig breeding.Geographical isolation,natural and artificial selection led to significant differences in the phenotypes of meat production traits between Chinese local pigs and Western commercial pigs.Comparative genomics and transcriptomics analysis provided powerful tools to identify genetic variants and genes associated with skeletal muscle growth.However,the number of available genetic variants and genes are still limited.In this study,a comprehensive comparison of transcriptomes showed that ribosomal protein S27-like(RPS27L)gene was highly expressed in skeletal muscle and up-regulated in Chinese local pigs when compared with Western commercial pigs.Functional analysis revealed that overexpression of RPS27L promoted myoblast proliferation and repressed differentiation in pig skeletal muscle cells.Conversely,the knockdown of RPS27L led to the inhibition of myoblast proliferation and the promotion of differentiation.Notably,a 13-bp insertion-deletion(InDel)mutation was identified within the RPS27L promoter,inserted in Chinese local breeds and predominantly deleted in Western commercial breeds.Luciferase reporter assay suggested this InDel modulated RPS27L expression by influencing transcription factor 3(TCF3)and myogenic differentiation antigen(MYOD)binding to the promoter.Furthermore,a positive correlation was observed between RPS27L expression and backfat thickness.Association studies demonstrated this InDel was significantly associated with the body weight of pigs at the age of 240 d.Together,our results suggested that RPS27L was a regulator of skeletal muscle development and growth,and was a candidate marker for improving meat production traits in pigs.This study not only provided a biomarker for animal breeding,but also was helpful for understanding skeletal muscle development and muscular disease in humans.
摘要海南是我国中粒咖啡规模化种植的起源地和优势产区,然而由于种质资源遗传背景不清,制约了良种选育与产业竞争力提升。因此,明确中粒咖啡种质资源的遗传多样性,构建核心种质资源库,将为高效育种和海南咖啡品牌建设提供遗传基础。本研究基于项目组前期获得的二代重测序数据,经过序列比对和筛选共开发44对InDel分子标记,对51份中粒咖啡种质进行遗传多样性分析、群体结构分析和聚类分析,筛选核心种质并构建指纹图谱。结果表明:37对InDel分子标记具有多态性和适用性,91.89%的标记具有高或中等多态信息含量(polymorphic information content,PIC),有效等位基因数(effective number of alleles,Ne)、Nei’s基因多样性指数(H')和Shannon’s多样性指数(I)的数值均表明该群体在所选标记上具有较高的遗传多样性。该群体的个体间遗传背景差异显著,遗传相似系数范围较广(0.2632~0.7632),遗传距离较大(0.2364~1.3350)。通过Structure分析和聚类分析,均一致地将该群体划分为2个独立的遗传类群,表明该群体内存在明显的遗传分化。在该群体中筛选出10份核心种质,在主成分分析(principal component analysis,PCA)图中呈集中分布,代表性强,遗传冗余度低。优选InDel 12、InDel 18、InDel 31和InDel 33的4个高多态性标记构建51份种质的指纹图谱,实现种质资源的精准鉴别与数字化高效管理。本研究开发了一套适用于中粒咖啡的InDel标记体系,基于多态性分析构建核心种质库与高效指纹鉴别系统,为种质资源精准管理、品种定向改良及知识产权保护提供方法与资源基础。
摘要陕北白绒山羊是我国特色绒肉兼用型山羊品种,其生长性状遗传改良进程相对滞后且表型稳定性不足,亟待筛选与生长性状关联的高效分子标记以加速陕北白绒山羊高效选育。成纤维细胞生长因子受体1(FGFR1)作为调控细胞增殖与分化的关键基因,其遗传变异可能影响山羊生长性能。因此,本研究旨在探究FGFR1在陕北白绒山羊各组织中的表达水平,分析FGFR1 Indel变异与陕北白绒山羊生长性状的相关性。以1332只成年陕北白绒山羊为对象,采集耳组织与14种组织样本,通过PCR扩增和琼脂糖凝胶电泳检测FGFR1基因InDel分型,利用qRT-PCR分析组织表达谱,并通过一般线性模型分析基因型与生长性状的关联性。结果显示,FGFR1基因在各组织中广泛表达,其中睾丸和大脑表达水平显著高于其它组织(P<0.05);群体遗传变异检测到P5位点存在22 bp InDel多态性,形成纯合插入型(Ⅱ,220 bp)、杂合型(ID,220/198 bp)及纯合缺失型(DD,198 bp)三种基因型,等位基因频率分别为0.822(I)和0.178(D),群体多态信息含量(PIC)为0.25,属中度多态(0.25≤PIC≤0.5);关联分析结果显示,II和ID基因型个体的胸围显著大于DD型(P<0.05),而ID型绒细度显著低于其他基因型(P<0.05)。综上所述,FGFR1基因22 bp InDel变异可作为陕北白绒山羊胸围与绒细度的候选分子标记。本研究为山羊分子标记辅助选择提供了理论依据,对加快绒山羊遗传改良进程具有重要意义。
基金jointly supported by Basic Research Funds of Hebei Academy of Agriculture and Forestry Sciences(2024060206)Hebei Provincial Natural Science Foundation(C2024301053)+1 种基金the Earmarked Fund for CARS-13the Modern Agricultural Industrial Technology System of Hebei Province(HBCT2024040101,HBCTHBCT2024040204)。
摘要Optimizing plant architecture is essential for improving mechanized harvesting and yield potential in peanut(Arachis hypogaea L.),yet its genetic basis remains unclear.This study aimed to identify stable major-effect QTL associated with main stem length,basal branch length,and the main stem length to basal branch length ratio,and to predict candidate genes using gene expression data and genome sequencing.A previously constructed population of recombinant inbred lines(RIL)derived from a cross between erect-type JH5 and bunch-type KX01-6 was evaluated across three field environments.Statistical analysis identified six QTL with LOD scores ranging from 3.27 to 9.77,explaining 6.14%-24.14%of the phenotypic variation.Among them,qMSL_B09,qBBL_B09,qBBL_B05,and qMBR_B05 were identified in at least two environments.By integrating QTL analysis based on Best Linear Unbiased Prediction(BLUP)values,we narrowed these four stable QTL to two loci,Rpa1(Regulating plant architecture 1)and Rph1(Regulating plant height 1)that were delimited to a~6.840 Mb region(B05:154.040 Mb to the end)and a~400 kb physical interval(B09:158.05-158.45 Mb),respectively.Phenotypic validation using near-isogenic lines(NILs)demonstrated that Rpa1 increased basal branch length by 27.22%and branch angle by 140.08%,while reducing the main stem-to-branch ratio by 22.91%.In contrast,Rph1 decreased main stem length by 42.31%and basal branch length by 46.84%.Map-based cloning of Rph1 identified an 1816-bp deletion in parental line JH5 that influenced the expression of two candidate genes:Ah19g561300(encoding a bifunctional inhibitor/lipid-transfer protein)and Ah19g561500(encoding a proteasome subunit).A diagnostic InDel marker to facilitate marker-assisted selection for ideal plant height in breeding programs was developed to track the deletion.Haplotype analysis of 241 accessions confirmed the association of Rph1 with plant architecture,and accessions carrying Hap~(rph1)exhibited significantly higher main stem and basal branch lengths(by~10%;P<0.01).These findings provide novel genetic insights and molecular tools for improving plant architecture and enhancing yield potential in peanut.