大豆巢式关联作图群体蛋白质含量的遗传解析

【目的】大豆是重要的经济作物,是人类植物蛋白质和油脂的主要来源。蛋白质含量作为大豆育种的主要目标之一,属于多基因控制的复杂数量性状,并且受环境条件的影响。通过对大豆巢式关联作图群体的蛋白质含量进行全基因组关联分析,解析其遗传构成,为高蛋白质含量的大豆品种育种提供理论基础。【方法】以蒙8206为共同亲本,对临河×蒙8206、正阳×蒙8206、蒙8206×通山与蒙8206×WSB分别杂交,通过单粒传法自交7代衍生的4个重组自交系群体,共计623个家系,整合为一个大豆巢式关联作图群体,利用RAD-seq技术进行SNP标记基因分型,并于2012年至2014年将该群体种植在5个不同田间环境,在大豆完熟期R8时测定蛋白质含量,利用限制性两阶段多位点全基因组关联分析方法(RTM-GWAS)来解析蛋白质含量的遗传构成。【结果】试验群体的蛋白质含量变异较大,蛋白质含量性状遗传率较高,遗传变异可解释85.00%的表型变异。多环境联合方差分析表明,蛋白质含量的基因型、环境以及基因型×环境均达到差异极显著水平。全基因组关联分析共检测到90个蛋白质含量QTL,其中新检测到20个QTL,每个QTL的表型变异解释率...     

GsMAPK4, a positive regulator of soybean tolerance to salinity stress

Salt stress is one of the major factors affecting plant growth and yield in soybean under saline soil condition. Despite many studies on salinity tolerance of soybean during the past few decades, the detailed signaling pathways and the signaling molecules for salinity tolerance regulation have not been clarified. In this study, a proteomic technology based on two-dimensional gel electrophoresis (2-DE) and mass spectrometry (MS) were used to identify proteins responsible for salinity tolerance in soybean plant. Real-time quantitative PCR (qRT-PCR) and Western blotting (WB) were used to verify the results of 2-DE/MS. Based on the results of 2-DE and MS, we selected glucosyltransferase (GsGT4), 4-coumarate, coenzyme A ligase (Gs4CL1), mitogen-activated protein kinase 4 (GsMAPK4), dehydration responsive element binding protein (GsDREB1), and soybean cold-regulated gene (GsSRC1) in the salinity tolerant soybean variety, and GsMAPK4 for subsequent research. We transformed soybean plants with mitogen-activated-protein kinase 4 (GsMAPK4) and screened the resulting transgenics soybean plants using PCR and WB, which confirmed the expression of GsMAPK4 in transgenic soybean. GsMAPK4-overexpressed transgenic plants showed significantly increased tolerance to salt stress, suggesting that GsMAPK4 played a pivotal role in salinity tolerance. Our research will provide new insights for better understanding the salinity tolerance regulation at molecular level.     

Genome-wide association study for starch content and constitution in sorghum (Sorghum bicolor (L.) Moench)

Starch is the most important component in endosperm of sorghum grain. Usually, two types of starch are present: amylose (AM) and amylopectin (AP). The levels of AM and AP contents play a significant role in the appearance, structure, and quality of sorghum grains and in marketing applications. In the present study, a panel of 634 sorghum (Sorghum bicolor (L.) Moench) accessions were evaluated for starch, AM, and AP contents of grain, which included a mini core collection of 242 accessions from the International Crops Research Institute for the Semi-Arid Tropics (ICRISAT) in India, and 252 landraces and 140 cultivars from China. The average starch content was 67.64% and the average AM and AP contents were 20.19 and 79.81%, respectively. We developed a total of 260 000 high-confidence single nucleotide polymorphism (SNP) markers in the panel of 634 accessions of S. bicolor using specific locus amplified fragment sequencing (SLAF-seq). We performed genome-wide association studies (GWAS) of starch, AM, and AM/AP of grain and SNP markers based on a mixed linear model (MLM). In total, 70 significant association signals were detected for starch, AM, and AM/AP ratio of grain with P<4.452×10^–7, of which 10 SNPs were identified with significant starch, 51 SNPs were associated with AM, and nine SNPs were associated with the AM/AP ratio. The Gene Ontology (GO) analysis identified 12 candidate genes at five QTLs associated with starch metabolism within the 200-kb intervals, located on chromosomes 1, 5, 6, and 9. Of these genes, Sobic.006G036500.1 encodes peptidyl-prolyl cis-trans-isomerase CYP38 responsible for hexose monophosphate shunt (HMS) and Sobic.009G071800 encodes 6-phospho-fructokinase (PFK), which is involved in the embden-meyerhof pathway (EMP). Kompetitive allele specific PCR (KASP) markers were developed to validate the GWAS results. The C allele is correlated with a high starch content, while the T allele is linked with a low level of starch content, and provides reliable haplotypes for MAS in sorghum quality improvement.     

Linkage and association mapping of wild soybean (Glycine soja) seeds germinating under salt stress

Salinity threatens soybean germination,growth and production.The germination stage is a key period in the life of soybean.Wild soybean contains many genes related to stress resistance that are valuable resources for the genetic improvement of soybean.To identify the genetic loci of wild soybean that are active during seed germination under salt stress,two populations,a soybean interspecific hybrid population comprising 142 lines and a natural population comprising 121 wild soybean accessions,wer...     

葡萄果粒质量相关性状全基因组关联分析

【目的】果粒大小是葡萄外观和产量的重要构成因子之一,为受多基因调控的复杂数量性状,挖掘葡萄果粒大小相关性状的关键遗传调控位点和基因,将有助于葡萄产量的提高。【方法】本研究以150份葡萄品种资源为材料,分别于2019年和2020年对葡萄果实单粒重、种子数目和种子质量等进行测定,并结合重测序获得的高密度基因型数据进行全基因组关联分析（genome-wide association study,GWAS）,挖掘调控各性状的遗传位点和基因。【结果】各性状在关联群体中呈现广泛的连续变异,变异系数为39.55%—68.89%;在不同年份均服从正态分布,符合数量性状遗传特征;相关性分析表明葡萄果实单粒重、种子数目和种子质量呈显著正相关。全基因组关联分析共检测到150个与果实单粒重显著关联的SNP,在2019年检测到99个SNP,解释表型变异的14.48%—25.59%;在2020年检测到73个SNP,解释表型变异的16.08%—26.83%;其中24个SNP位点在两个年份均检测到,主要位于1号、5号、11号和16号染色体。相较于果实单粒重,检测到的与种子数目显著关联的SNP较少,2019年检测到1个...     

东北大豆种质群体百粒重QTL-等位变异的全基因组解析

【目的】对东北大豆种质群体百粒重性状进行全基因组关联分析,全面解析中国大豆主产区百粒重QTL-等位变异遗传构成,为东北地区大豆籽粒大小遗传改良提供理论基础。【方法】以东北地区育种和生产上常用的290份大豆材料作为试验群体,于2013和2014年在东北第二生态亚区的克山、牡丹江、佳木斯和长春4个地点进行百粒重表型鉴定试验。利用RAD-seq方法对试验群体进行基因组测序分析,对原始SNP数据进行过滤及填补缺失数据后,最终获得了82 966个高质量的SNP标记。根据限制性两阶段多位点全基因组关联分析(restricted two-stage multi-locus genome-wide association analysis,RTM-GWAS)方法,首先构建获得15 546个具有复等位变异的SNPLDB标记,然后使用两阶段多位点模型对百粒重性状进行全基因组关联分析。对检测到的百粒重关联SNPLDB标记位点附近(50 kb范围内)的基因进行分析,根据基因内SNP与SNPLDB标记位点之间关联性的卡方测验,筛选可能与百粒重性状相关的候选基因并进行功能注释。最后基于检测的百粒重QTL-等位变异...     

杜洛克猪生长性状全基因组关联分析

对猪全基因组高密度SNP基因型数据及生长性状表型数据进行全基因组关联分析,以期找到影响这些性状的候选基因,更准确地了解这些生长性状的遗传基础。利用Illumina猪60KSNP芯片对191头杜洛克猪进行基因型检测,使用R语言环境下GenABEL 软件包提供的单标记回归分析模型,对体重达100 kg 日龄(D100)、活体背膘厚(BFT)和活体眼肌面积(LMA)3个生长性状的表型分别进行全基因组关联分析。在D100和LMA2个性状中分别检测到1个基因组水平和6个染色体水平显著关联的SNP,均位于5号染色体;没有检测到与BFT显著相关的SNP。生物信息学分析表明,BTG1和EFCAB6可能是影响生长性状的重要候选基因,但其功能有待进一步研究确认。关键词猪;全基因组关联分析;候选基因;生产性状。     

小麦粒重形成的分子调控机制研究综述

粒重是小麦Triticum aestivum产量构成的三大要素之一,是由多基因控制的数量性状,极易受环境因素的影响。国内外学者围绕粒重形成的遗传特征和分子调控机制进行了大量研究,也取得了一些研究进展。如何高效地利用前人的研究成果进行不断创新以提高小麦单产是育种工作者重要的研究课题。围绕小麦粒重形成的构成要素、遗传特征、QTLs（quantitative trait loci,QTLs）遗传定位、籽粒质量形成候选基因的克隆与分子调控机制解析等方面的最新研究展开综述;同时总结了以往研究过程中存在的问题,并结合自身研究对研究前景进行分析后指出:为了从分子水平上全面阐明小麦粒重形成的调控机制,后续研究首先应在小麦粒重形成的关键时期对籽粒激素的变化特征进行全面分析;其次要利用全基因组关联分析和高通量测序技术进一步开发与性状密切相关联的SNP标记（single nucleotide polymorphism,SNP）;最后结合作图群体进行表型与SNP分析技术为基础的基因型关联性分析,对粒重形成候选主效基因进行精细定位、图位克隆和功能解析。表1参52     

陆地棉吐絮率的限制性两阶段多位点全基因组关联分析及候选基因预测

[目的]吐絮率是反映陆地棉(Gossypium hirsutum L.)早熟性状的重要指标之一,利用全基因组关联分析(genome-wide association study,GWAS)解析吐絮率的QTL(quantitative trait locus)及其遗传效应,为陆地棉早熟性状的分子育种提供理论基础.[方法]...     

Identification of candidate genes related to soluble sugar contents in soybean seeds using multiple genetic analyses

Soluble sugar content in seeds is an important quality trait of soybean. In this study, 57 quantitative trait loci(QTLs) related to soluble sugar contents in soybean seeds were collected from databases and published papers. After meta-overview-collinearity integrated analysis to refine QTL intervals, eight consensus QTLs were identified. To further verify the consensus QTLs, a population of chromosome segment substitution lines(CSSLs) was analyzed. Two lines containing fragments covering the reg...     

RTM-GWAS方法应用于大豆RIL群体百粒重QTL检测的功效

【目的】为全面解析大豆重组自交系群体中调控百粒重性状的QTL体系,将限制性两阶段多位点全基因组关联分析方法(RTM-GWAS)和不同定位方法进行比较、优选,为后续候选基因体系探索及分子标记辅助育种设计提供依据。【方法】利用以科丰1号和南农1138-2为亲本衍生的重组自交系群体NJRIKY的427个家系,通过由全基因组39 353个SNP构建的3 683个SNPLDB标记及3个环境下的百粒重表型数据,选用复合区间作图法(CIM)、基于混合线性模型的全基因组关联分析方法(MLM-GWAS)和RTM-GWAS 3种方法检测百粒重QTL,通过QTL数目和总的表型变异解释率比较检测功效,挑选最佳定位结果进行NJRIKY群体中的百粒重遗传体系解析。通过候选基因体系的功能注释,挖掘调控大豆百粒重的生物学途径。【结果】科丰1号与南农1138-2的百粒重差异较大,多环境平均数分别为9.0和17.9 g,遗传变异系数为12.4%,遗传率为85.4%,适用于百粒重性状的遗传解析。比较3种方法定位结果表明RTM-GWAS方法表现最佳,检测QTL数目最多(57个),解释表型变异最多(70.78%)。而CIM仅检...     

棉花产量构成因素性状的全基因组关联分析

【目的】 对铃重、衣分、单株铃数和籽指等棉花产量构成因素性状进行全基因组关联分析（genome-wide association study,GWAS）,发掘与其关联的标记位点、优异等位变异及候选基因,为棉花产量的分子育种提供理论依据。【方法】 以408份陆地棉品种（系）资源为材料,利用Cotton SNP 80K芯片,对6个环境的铃重、衣分、单株铃数和籽指4个产量构成因素性状进行基于混合线性模型（mixed linear model,MLM）的全基因组关联分析,检测与产量构成因素性状显著关联的位点、优异等位变异;进一步依据转录组数据的基因表达量,在显著关联的位点侧翼序列1 Mb区间挖掘可能的候选基因。【结果】 4个产量构成因素性状在不同环境下均表现出广泛的表型变异,其中,单株铃数变异系数最大为16.67%—22.66%,各性状的遗传率为48.4%—92.2%;除铃重与衣分间相关性不显著外,其他性状间均呈显著或极显著相关性;基于6个环境各性状表型数据的最佳线性无偏预测值（best linear unbiased prediction,BLUP）,GWAS共检测到分布于基因组的7个区间内23个与目标性状关联的SNP位点,其中,与铃重关联的位点5个,与衣分关联的位点1个,与单株铃数关联的位点9个,与籽指关联的位点8个,有3个位点（TM21094、TM21102和TM57382）同时与多个目标性状关联;鉴定到7个最优SNP位点的优异等位变异,分别为TM21099（TT）、TM57382（GG）、TM78920（CC）、TM53448（TT）、TM59015（AA）、TM43412（GG）和TM69770（AA）;利用转录组数据分析,在基因组的7个区间筛选到158个与产量形成可能的候选基因,GO富集分析和KEGG代谢途径分析发现,候选基因功能类别多样并参与了多种代谢途径。【结论】 在陆地棉品种（系）群体中共鉴定到23个与产量构成因素性状关联的SNP位点,筛选到158个可能与产量性状相关的候选基因。     

Identification of quantitative trait loci and candidate genes controlling seed pigments of rapeseed

Rapeseed (Brassica napus L.) is an important source of edible vegetable oil and feed protein; however, seed pigments affect the quality of rapeseed oil and the feed value of the residue from oil pressing. Here, we used a population of rapeseed recombinant inbred lines (RILs) derived from the black-seeded male parent cultivar Zhongyou 821 and the yellow-seeded female parent line GH06 to map candidate genes controlling seed pigments in embryos and the seed coat. We detected 94 quantitative trait loci (QTLs) for seed pigments (44 for embryos and 50 for seed coat), distributed over 15 of the 19 rapeseed chromosomes. These included 28 QTLs for anthocyanidin content, explaining 2.41–44.66% of phenotypic variation; 24 QTLs for flavonoid content, explaining 2.41–20.26% of phenotypic variation; 16 QTLs for total phenol content, accounting for 2.74–23.68% of phenotypic variation; and 26 QTLs for melanin content, accounting for 2.37–24.82% of phenotypic variation, indicating that these traits are under multigenic control. Consensus regions on chromosomes A06, A09 and C08 were associated with multiple seed pigment traits, including 15, 19 and 10 QTLs, respectively, most of which were major QTLs explaining >10% of the phenotypic variation. Based on the annotation of the B. napus “Darmor-bzh” reference genome, 67 candidate genes were predicted from these consensus QTLs regions, and 12 candidate genes were identified as potentially involved in pigment accumulation by RNA-seq and qRT-PCR analysis. These preliminary results provide insight into the genetic architecture of pigment biosynthesis and lay a foundation for exploring the molecular mechanisms underlying seed coat color in B. napus.     

Mining of candidate genes for grape berry cracking using a genome-wide association study

Fruit cracking is a common phenomenon during the growth and development of horticultural crops that seriously affects fruit yield and quality. However, there are few studies on the mining of candidate genes related to berry cracking. To better understand the genetic basis of grape berry cracking, we conducted a genome-wide association study(GWAS)of grape varieties. Based on the mixed linear model(MLM), we detected five single nucleotide polymorphism(SNP)loci associated with berry-cracking index ...     

多环境下玉米保绿相关性状遗传位点的挖掘

【目的】功能性保绿通常被认为是包括玉米在内的主要作物品种的理想性状。挖掘新的控制玉米保绿相关位点和候选基因,为玉米保绿遗传研究提供理论基础。【方法】以150份由许178和K12组配的重组自交系（recombinant inbred lines,RIL）群体为材料,通过Windows QTL Cartographer V2.5的复合区间作图法（composite interval mapping,CIM）对3个保绿相关性状（保绿度（visual stay green,VSG）、吐丝期绿叶数（green leaf number at silking stage,GLNS）和成熟期绿叶数（green leaf number at mature stage,GLNM））进行QTL定位。同时,以139份自然材料组成的关联群体为材料,基于混合线性模型（mixed linear model,MLM）,结合50 790个高质量SNP标记,对这3个性状进行全基因组关联分析（genome-wide association study,GWAS）。【结果】基于CIM,利用单环境下的表型值和最佳线性无偏估计值（best linear unbiased prediction,BLUP）对GLNM、GLNS和VSG进行定位,共检测到37个QTL,分布在除第10染色体以外的其他染色体上,LOD范围为2.58—11.36,表型贡献率为4.34%—22.40%。GLNM、GLNS和VSG性状分别检测到14、12和11个位点。其中,4个遗传稳定的QTL（qGLNS2-1、qVSG1-1、qVSG1-2和qVSG7-1）,在3个及以上不同单环境中同时被检测到。利用MLM对保绿相关性状进行全基因组关联分析,共检测到44个超过阈值线的显著SNP,根据SNP标记在B73参考基因组的物理位置,发现共有15个位点落在连锁分析定位到的QTL区间内。【结论】通过QTL定位和全基因组关联分析共同检测到4个遗传稳定的共定位遗传区段（对应的B73参考基因组V4版物理位置区间为第1染色体6.2—8.2 Mb、第2染色体209.1—221.4 Mb、第6染色体96.8—102.1 Mb、第7染色体4.9—11.4 Mb）,并挖掘到4个与光合作用和抗逆相关的候选基因（Zm00001d006119、Zm00001d018975、Zm00001d006535和Zm00001d036763）。     

Inheritance of steroidal glycoalkaloids in potato tuber flesh

Potato(Solanum tuberosum L.) is the third most important food crop worldwide after wheat and rice in terms of human consumption. A critical domestication trait for potato was the decrease of toxic steroidal glycoalkaloids(SGAs) in tuber flesh. Here, we used a diploid F_2 segregating population derived from a cross between S. tuberosum and the wild potato species Solanum chacoense to map the quantitative trait loci(QTLs) associated with the regulation of SGAs content in tuber flesh. In a three-year study, we identified two QTLs on chromosomes 2 and 8 affecting SGAs content in tuber flesh. The QTL on chromosome 8 harbors 38 genes that are co-expressed with the GLYCOALKALOID METABOLISM genes. These findings lay the foundation for exploiting the genes controlling SGAs content in tuber flesh and they provide a theoretical basis for the use of wild germplasm in potato breeding.     

玉米杂交种穗部性状的全基因组关联分析

【目的】玉米穗部性状是产量的重要构成因子,利用全基因组关联分析（genome-wide association study,GWAS）方法解析玉米杂交种穗部性状的遗传基础、挖掘与穗部性状相关的位点,为功能基因克隆和高产玉米品种培育提供参考。【方法】选用115份来源于陕A群和陕B群的优良玉米自交系和4份国内骨干作为亲本,以基于NCⅡ遗传交配设计获得的442份玉米杂交种为材料构建关联群体,调查2个环境中群体材料的穗长、穗粗、穗行数等8个穗部性状;利用tGBS技术检测亲本基因型,推测出F₁杂交种的19 461个高质量SNP,结合杂交种表型和基因型开展基于加性、显性及上位性模型的穗部性状的全基因组关联分析,并利用公共数据库中玉米穗发育相关组织的转录组数据和基因的注释信息预测候选基因。【结果】表型数据分析结果显示,试验群体的8个穗部性状均符合正态分布,表型变异为3.78%—45.25%。方差分析表明,8个穗部性状的环境效应和基因型效应均呈现极显著水平（P<0.001）,广义遗传力为54.15%—68.89%。同时玉米杂交种穗部性状间呈现显著正相关或显著负相关。利用加性和显性模型分别检测到16个和3个显著SNP,上位性模型检测到79个上位性位点。3种模型检测的显著位点累积解释各性状38.21%—60.69%的表型变异,其中,加性模型检测到的显著SNP累积解释的表型变异为0.00—41.26%,上位性模型检测到的位点累积解释的表型变异为15.18%—45.36%。基于加性和显性模型检测的显著SNP的效应分析发现多数位点呈现加性和部分显性效应,仅2个为超显性。进一步分析发现,7个单SNP和5个上位性位点能够解释5%以上的表型变异。根据SNP的位置以及基因的表达信息预测了17个候选基因。【结论】玉米杂交种穗部性状主要受加性、上位性效应影响,显性效应影响较小;加性和显性模型检测的SNP主要表现为加性和部分显性效应,可通过聚合有利等位基因改良目标性状。     

玉米叶绿素含量的全基因组关联分析

目的 叶绿素含量与作物产量呈正相关。通过提高叶绿素含量来提高作物产量是作物育种的方向之一。因此,利用全基因组关联分析（genome-wide association study, GWAS）解析玉米叶绿素含量的遗传基础,可为玉米高光效理想株型设计育种提供理论指导。方法 以538份玉米自交系构成的关联群体为研究对象,在5个环境下,通过对其授粉后5 d的棒三叶（穗位叶、穗上叶、穗下叶）叶绿素含量进行测定,并借助覆盖玉米全基因组的558 629个单核苷酸多态性标记（SNPs）,利用3种模型（Q、K和Q+K）对叶绿素含量进行全基因组关联分析,随后选择最优模型的GWAS结果并结合eQTL（expression quantitative trait loci）分析对叶绿素含量的自然变异进行解析。结果 5个环境下,棒三叶叶绿素含量均遵从正态分布且叶绿素含量间呈正相关;方差分析表明棒三叶叶绿素含量的环境效应、基因型效应、基因型与环境互作效应均达到了极显著水平;此外,穗上叶、穗位叶和穗下叶叶绿素含量的遗传力分别为0.66、0.66和0.67。比较3种模型发现K模型对假阳性（I型错误）控制最好,在此模型下共检测到29个与棒三叶叶绿素含量显著关联的SNP（P≤3.99×10^-6）,涉及到18个位点,共有76个候选基因落在这18个位点内,其中85.5%（65/76）的候选基因具有eQTL,11.8%（9/76）的候选基因与对应表型显著相关（P＜0.05）,说明这9个基因可能是通过表达量变化来调控表型变异。在这76个基因中,60个候选基因有功能注释,功能涉及到能量代谢、物质输送代谢途径和生物合成调节等过程。此外还发现2个可以在不同环境或不同叶片共定位的位点,其中,共定位位点内的基因GRMZM2G074759编码一种与AAE3高度相似的酰基活化酶,该基因通过提高α-酮戊二酸（ALA）和草酰乙酸含量进而影响氨基酸生物合成,提高籽粒赖氨酸含量,改善玉米品质。此外,ALA的合成会促使叶绿素含量升高,进而提高作物产量,推测该基因为最可能的候选基因。结论 K模型对假阳性的控制效果最好,基于K模型,共检测到18个玉米叶绿素含量显著关联位点,发现多个参与叶绿素合成途径相关基因。     

大豆重组自交系群体异黄酮含量QTL连锁定位与关联定位的比较研究

【目的】异黄酮是大豆等豆类植物中富含的一类次生代谢产物,对食品和保健产业有重要作用。大豆籽粒可分离出12种异黄酮组分,可归为三大类:大豆苷类异黄酮、染料木苷类异黄酮和黄豆苷类异黄酮。通过鉴定大豆籽粒异黄酮总含量及3个组分含量性状的加性及上位性QTL,进而全面解析其复杂的遗传构成。【方法】利用先进2号和赶泰2-2双亲衍生的大豆重组自交系群体NJRSXG,在5个环境下测定4个异黄酮含量性状:异黄酮总含量(total isoflavone content,SIFC)、大豆苷类异黄酮总含量(total daidzin group content,TDC)、染料木苷类异黄酮总含量(total genistin group content,TGC)和黄豆苷类异黄酮总含量(total glycitin group content,TGLC)。选用混合模型复合区间作图法(mixed-model-based composite interval mapping,MCIM)和限制性两阶段多位点全基因组关联分析方法(restricted two-stage multi-locus genome-wide a...     

Quantitative trait loci for the number of vertebrae on Sus scrofa chromosomes 1 and 7 independently influence the numbers of thoracic and lumbar vertebrae in pigs

Although quantitative trait loci(QTLs) for number of thoracic-lumbar vertebrae have been identified on Sus scrofa chromosomes(SSCs) 1 and 7, the influence of these QTLs on the thoracic and lumbar vertebrae is not clear. The aim of this study was to identify single nucleotide polymorphisms(SNPs) associated with total number of thoracic-lumbar vertebrae and for each trait(number of thoracic and lumbar vertebrae) separately. A total of 581 individuals from an F2 Large White×Minzhu population were genotyped using an SNP60 K chip. Performing a genome-wide association study(GWAS) for total number of thoracic-lumbar vertebrae, 38 significant SNPs were identified in two QTL regions located on SSC1 and SSC7. Performing a GWAS for number of thoracic vertebrae only, 72 significant SNPs were located on SSC7. While performing a GWAS for number of lumbar vertebrae only, 17 significant SNPs were identified on SSC1. Gene mining suggested that the gene encoding orphan nuclear receptor, germ cell nuclear factor(NR6A1) on SSC1 was a strong candidate affecting the number of lumbar vertebrae in pigs. Additionally, genes encoding vertnin(VRTN), prospero homeobox 2(PROX2), Finkel-Biskis-Jinkins murine osteosarcoma viral oncogene homolog(FOS), and transforming growth factor beta 3(TGFB3) may be important candidates affecting the number of thoracic vertebrae in pigs. QTLs on SSC1 and SSC7 independently influenced the numbers of thoracic and lumbar vertebrae. These results shed light on the complex genetic background of vertebrae development in pigs.