基于侯选基因标记的四倍体马铃薯休眠QTL关联分析

休眠期是马铃薯(SolanumtuberosumL.)重要的块茎性状之一,寻找调控马铃薯块茎休眠的关键基因,揭示其分子机制以选育具有适宜休眠期长度的马铃薯品种,对于解决当前马铃薯产业中过长或过短休眠期带来的经济损失和食品安全隐患等问题十分关键。前期研究在二倍体马铃薯连锁群体中定位了6个加性休眠QTL,本研究拟在四倍体马铃薯育种材料中验证这些休眠QTL。基于休眠QTL连锁的候选基因标记,采用混合线性模型(MLM),模型中考虑群体结构和亲缘关系(Q+K),在四倍体马铃薯自然群体St-hzau中对马铃薯块茎休眠期进行了关联分析。5号染色体上休眠QTL DorB5.3连锁的候选基因标记S199_300和GWD (根据葡聚糖水双激酶α-glucan water dikinase基因设计)与马铃薯块茎休眠期具有显著的关联(P0.05),分别解释了休眠期表型变异的7.8%和3.2%,分别能增加休眠期7.1 d和4.5 d,即在二倍体马铃薯连锁群体中定位的稳定主效休眠QTL DorB5.3在四倍体马铃薯关联群体St-hzau中也表现显著, DorB5.3的稳定性在关联分析结果中得到了验证,表明候选基因标记策略在马铃薯块茎休眠QTL关联分析中是一种有效的策略。本研究所验证的主效休眠QTL DorB5.3及相应连锁标记可以直接用于马铃薯休眠育种。据此可以推测GWD可能在控制还原糖含量和块茎休眠2个方面均发挥作用,马铃薯块茎休眠机制与还原糖含量变化机制可能存在着部分交叉。     

滩羊毛色的全基因组关联分析

滩羊不仅肉质鲜美,其所产的二毛裘皮在国内外也享有盛誉,毛色是滩羊重要的经济性状。为检测影响滩羊毛色的基因组区域,利用美国Affymetrix绵羊600K基因分型芯片对宁夏盐池地区具有代表性毛色的96只滩羊个体(全白、白毛黑头、白毛褐或黄头)进行基因分型,并采用Logistic回归方法进行全基因组关联分析。通过Bonferroni校正,检测到5个与毛色显著关联的SNPs。这些SNPs分别位于或邻近2个已知基因(MC1R和TCF25)。其中MC1R基因参与调控黑色素的合成,研究表明其与绵羊毛色相关。而TCF25基因与MC1R基因距离很近,可能由于存在一定程度的连锁不平衡而被鉴定到。本研究进一步解析了滩羊毛色性状的遗传机理,为滩羊毛色性状的标记辅助选育提供科学依据。     

“Arte et Labore”—A Blackburn Rovers fan's legacy in human complex trait genetics

Through his own research contributions on the modelling and genetic analysis of quantitative traits and through his former students and postdocs, Robin Thompson has indirectly left a major legacy in human genetics. In this short note, we highlight examples of the long‐lasting relevance and impact of Robin's work in human genetics. A lone early study of marker‐assisted selection developed many of the tools and approaches later exploited (often after reinvention) by the human genetics community in GWAS studies and for prediction. Furthermore, a particularly clear example of the pervasive impact of Robin's work is that REML has become the default method to estimate variance components and that genetic predictions exploiting linkage disequilibrium in the population are starting to become used in precision medicine applications.     

全基因组关联分析在德国牧羊犬髋关节发育不良研究中的应用现状

犬髋关节发育不良(canine hip dysplasia,CHD)是犬常见的骨科疾病,传统放射学诊断对降低CHD发病率的作用有限,而基因诊断技术则可以有效促进CHD的育种改良。全基因组关联分析(genome wide association study,GWAS)是一种全基因组范围内的遗传标记的检测技术,对复杂性状功能基因的鉴定十分有效,已成为挖掘畜禽复杂疾病和性状遗传的重要方法。随着犬全基因组测序的完成以及犬不同密度SNP芯片的商业化,GWAS已经成为CHD致病基因筛选的一个重要手段。本文综述了GWAS的定义与影响因素,CHD在国外的育种现状及GWAS在德国牧羊犬中的研究进展。     

西北地区和尚头小麦遗传多样性及农艺性状的关联分析

为了解西北地区和尚头小麦种质资源的遗传特性及主要农艺性状特征,采用43份不同来源的和尚头小麦种质材料,在均匀分布于小麦21条染色体上的150个SSR(simple sequence repeats)位点上检测遗传多样性,同时对19个农艺性状在两个试验点进行表型鉴定,并采用GLM(general linear model)模型进行分子标记与表型性状的关联分析。结果表明,19个农艺性状中数量性状遗传多样性明显高于质量性状,除壳色外,其他性状之间均存在不同程度的相关性。利用45对具有多态性的SSR标记共检测出151个等位变异,各标记等位位点变化范围为2～6,平均为3.36个,PIC(polymorphism information content)值变异范围为0.044～0.771。群体遗传结构分析将43份材料划分为8个亚群。关联分析发现11个SSR标记与农艺性状显著关联,单个标记对表型变异的解释率为8.89%～24.74%,这些标记可为特色小麦分子标记辅助选择育种提供理论参考。     

Genomewide association study of immune traits in chicken F2 resource population

Immune traits play pivotal roles in animal immune capacity development and disease resistance. Single nucleotide polymorphisms (SNPs) are common forms of genetic variations among individuals, which are thought to account for the majority of inherited phenotypic variations. In this study, we performed genomewide association, using the Illumina 60K SNP BeadChip studies to detect molecular markers and candidate genes associated with immune traits in an F2 population. Sixteen immune traits were measured. We identified 85 significant SNPs (p < 2.98 × 10^?6) with 5% as the genomewide significance threshold, 380 SNPs of suggestive significance (p < 5.96 × 10^?5) from simple model (general linear model, GLM) and 15 SNPs of suggestive significance (p < 5.96 × 10^?5) from the compressed mixed linear model (MLM), which were also found in GLM (six significant SNPs and seven suggestive SNPs). Three significant SNPs (GGaluGA151406, Gga_rs14554319 and Gga_rs13593979) and candidate genes (LYRM4 and KTN1) were found to be associated with avian influenza antibody titres, and the first two SNPs are from the results of two‐model analysis. For the immune organs, through the analysis of GLM, 19 SNPs were found to be significantly associated with the thymus weight, 61 SNPs were significantly associated with the bursa of Fabricius weight, six of which were located within a 34‐Mb region (125 846 474–159 649 698 bp) on chicken chromosome 1 (GGA1). A candidate region relevant to haematological traits from GLM was found in GGA4 and 9 loci were located on it. Three loci (GGaluGA348521, Gga_rs16098446 and GGaluGA348518) within 179 kb (16 286 868–16 466 134 bp) on GGAZ from GLM provided evidence that this genomic segment may be relevant to red blood cell volume distribution width (RDW). Our study provides a list of significant SNPs and candidate genes that will be valuable information for unveiling the underlying molecular mechanism of immune regulation.     

Fine mapping of a calving QTL on Bos taurus autosome 18 in Holstein cattle

Decreased calving performance not only directly impacts the economic efficiency of dairy cattle farming but also influences public concern for animal welfare. Previous studies have revealed a QTL on Bos taurus autosome (BTA) 18 that has a large effect on calving traits in Holstein cattle. In this study, fine mapping of this QTL was performed using imputed high‐density SNP chip (HD) genotypes followed by imputed next‐generation sequencing (NGS) variants. BTA18 was scanned for seven direct calving traits in 6113 bulls with imputed HD genotypes. SNP rs136283363 (BTA18: 57 548 213) was consistently the most significantly associated SNP across all seven traits [e.g. p‐value = 2.04 × 10^?59 for birth index (BI)]. To finely map the QTL region and to explore pleiotropic effects, we studied NGS variants within the targeted region (BTA18: 57 321 450–57 625 355) for associations with direct calving traits and with three conformation traits. Significant variants were prioritized, and their biological relevance to the traits was interpreted. Considering their functional relationships with direct calving traits, SIGLEC12, CD33 and CEACAM18 were proposed as candidate genes. In addition, pleiotropic effects of this QTL region on direct calving traits and conformation traits were observed. However, the extent of linkage disequilibrium combined with the lack of complete annotation and potential errors in the Bos taurus genome assembly hampered our efforts to pinpoint the causal mutation.