基于高密度SNP标记重构猪多品种群体系谱

系谱是动物育种的重要信息来源,本研究旨在探究高密度SNP标记重构系谱在生产群体中的效果,填补使用高密度SNP信息重构多品种、大规模真实生产猪群的空白。本研究利用Illumina GeneSeek GGP Porcine 50K芯片对四川某猪场2017—2021年出生的1 471头曾祖代纯种杜洛克猪(n=986)和长白猪(n=485)进行分型,通过共祖片段法(common ancestor fragment method)分析上述两个品种群体内基因组亲缘关系,由此分别重构两品种群体系谱。同时选取有个体芯片分型信息及系谱记录的115头种猪,通过严格控制生产操作流程保证其系谱记录准确无误,用以评价准确性。结果表明,基于共祖片段法利用基因组信息可以同时推断多代次、品种混合的真实生产群体内个体对间的共祖片段分布情况及比例,且较状态相同片段(identical by state, IBS)能更准确的区分个体间亲缘关系,借此判断个体间亲缘关系并进一步推断家系结构。同时该方法在115头种猪的验证群体中共推断出702对亲缘关系,包括系谱记录的全部亲子关系对(n=184)、全同胞对(n=175)、半同胞关...     

利用基因组信息提高畜禽生产性能研究进展

为了满足人们对畜产品需求的快速增长,必须在加快畜禽产业发展的同时把对环境的影响降到最低,提高畜禽遗传特性有望促进这一问题的解决。进入21世纪以来,以基因组选择为核心的分子育种技术迎来了发展机遇,利用该技术可实现早期准确选择,从而大幅度缩短世代间隔,加快群体遗传进展,并显著降低育种成本。虽然在某些畜种中（如奶牛）,基因组选择取得了成功,群体也获得较大遗传进展,但仍无法满足快速增长的需求。因此,亟需寻找能够进一步加快遗传进展的方法。研究表明,在SNP标记数据中加入目标性状的已知功能基因信息,可以提高基因组育种值预测的准确性,进而加快遗传进展。而挖掘更多基因组信息的同时,开发更优化的分析方法可以更有助于目标的实现。文章总结了主要畜禽物种的可用基因组数据,包括牛、绵羊、山羊、猪和鸡以及这些数据是如何有助于鉴定影响重要性状的遗传标记和基因,从而进一步提高基因组选择的准确性。     

Accuracy of breeding values when using and ignoring the polygenic effect in genomic breeding value estimation with a marker density of one SNP per cM

Genomic selection is based on breeding values that are estimated using genome-wide dense marker maps. The objective of this paper was to investigate the effect of including or ignoring the polygenic effect on the accuracy of total genomic breeding values, when there is coverage of the genome with approximately one SNP per cM. The importance of the polygenic effect might differ for high and low heritability traits, and might depend on the design of the reference dataset. Hence, different scenarios were evaluated using stochastic simulation. Accuracies of the total breeding value of juvenile selection candidates depended on the number of animals included in the reference data. When excluding polygenic effects, those accuracies ranged from 0.38 to 0.55 and from 0.73 to 0.79 for traits with heritabilities of 10 and 50%, respectively. Accuracies were improved by including a polygenic effect in the model for the low heritability trait, when the LD-measure r2 between adjacent markers became smaller than approximately 0.10, while for the high heritability trait there was already a small improvement at r2 between adjacent markers of 0.14. In all situations, the estimated total genetic variance was underestimated, particularly when the polygenic effect was excluded from the model. The haplotype variance was less underestimated when more animals were added in the reference dataset.     

Dimension reduction and variable selection for genomic selection: application to predicting milk yield in Holsteins

Genome‐assisted prediction of genetic merit of individuals for a quantitative trait requires building statistical models that can handle data sets consisting of a massive number of markers and many fewer observations. Numerous regression models have been proposed in which marker effects are treated as random variables. Alternatively, multivariate dimension reduction techniques [such as principal component regression (PCR) and partial least‐squares regression (PLS)] model a small number of latent components which are linear combinations of original variables, thereby reducing dimensionality. Further, marker selection has drawn increasing attention in genomic selection. This study evaluated two dimension reduction methods, namely, supervised PCR and sparse PLS, for predicting genomic breeding values (BV) of dairy bulls for milk yield using single‐nucleotide polymorphisms (SNPs). These two methods perform variable selection in addition to reducing dimensionality. Supervised PCR preselects SNPs based on the strength of association of each SNP with the phenotype. Sparse PLS promotes sparsity by imposing some penalty on the coefficients of linear combinations of original SNP variables. Two types of supervised PCR (I and II) were examined. Method I was based on single‐SNP analyses, whereas method II was based on multiple‐SNP analyses. Supervised PCR II was clearly better than supervised PCR I in predictive ability when evaluated on SNP subsets of various sizes, and sparse PLS was in between. Supervised PCR II and sparse PLS attained similar predictive correlations when the size of the SNP subset was below 1000. Supervised PCR II with 300 and 500 SNPs achieved correlations of 0.54 and 0.59, respectively, corresponding to 80 and 87% of the correlation (0.68) obtained with all 32 518 SNPs in a PCR model. The predictive correlation of supervised PCR II reached a plateau of 0.68 when the number of SNPs increased to 3500. Our results demonstrate the potential of combining dimension reduction and variable selection for accurate and cost‐effective prediction of genomic BV.     

全基因组选择模型研究进展及展望

全基因组选择是一种利用覆盖全基因组的高密度标记进行选择育种的新方法,可通过早期选择缩短世代间隔,提高育种值估计准确性等加快遗传进展,尤其对低遗传力、难测定的复杂性状具有较好的预测效果,真正实现了基因组技术指导育种实践。随着芯片和测序技术日趋成熟,高密度标记芯片检测成本不断降低,全基因组选择模型的不断升级和优化,预测准确性不断提高,全基因组选择已成为动物遗传改良的重要手段和研究热点。目前,全基因组选择已经成为奶牛遗传评估的标准方法,并取得重要进展,在其它物种中的应用正在逐步开展。本文主要对全基因组选择的统计模型发展进行综述,总结全基因组选择在动物遗传育种中的应用现状,讨论当前存在的问题,并对全基因组选择模型的发展方向和应用前景进行展望。     

Comparison of genomic and traditional BLUP-estimated breeding value accuracy and selection response under alternative trait and genomic parameters

Accuracy of prediction of estimated breeding values based on genome-wide markers (GEBV) and selection based on GEBV as compared with traditional Best Linear Unbiased Prediction (BLUP) was examined for a number of alternatives, including low heritability, number of generations of training, marker density, initial distributions, and effective population size (Ne). Results show that the more the generations of data in which both genotypes and phenotypes were collected, termed training generations (TG), the better the accuracy and persistency of accuracy based on GEBV. GEBV excelled for traits of low heritability regardless of initial equilibrium conditions, as opposed to traditional marker-assisted selection, which is not useful for traits of low heritability. Effective population size is critical for populations starting in Hardy-Weinberg equilibrium but not for populations started from mutation-drift equilibrium. In comparison with traditional BLUP, GEBV can exceed the accuracy of BLUP provided enough TG are included. Unfortunately selection rapidly reduces the accuracy of GEBV. In all cases examined, classic BLUP selection exceeds what was possible for GEBV selection. Even still, GEBV could have an advantage over traditional BLUP in cases such as sex-limited traits, traits that are expensive to measure, or can only be measured on relatives. A combined approach, utilizing a mixed model with a second random effect to account for quantitative trait loci in linkage equilibrium (the polygenic effect) was suggested as a way to capitalize on both methodologies.     

Application of imputation methods to genomic selection in Chinese Holstein cattle

Missing genotypes are a common feature of high density SNP datasets obtained using SNP chip technology and this is likely to decrease the accuracy of genomic selection. This problem can be circumvented by imputing the missing genotypes with estimated genotypes. When implementing imputation, the criteria used for SNP data quality control and whether to perform imputation before or after data quality control need to consider. In this paper, we compared six strategies of imputation and quality control using different imputation methods, different quality control criteria and by changing the order of imputation and quality control, against a real dataset of milk production traits in Chinese Holstein cattle. The results demonstrated that, no matter what imputation method and quality control criteria were used, strategies with imputation before quality control performed better than strategies with imputation after quality control in terms of accuracy of genomic selection. The different imputation methods and quality control criteria did not significantly influence the accuracy of genomic selection. We concluded that performing imputation before quality control could increase the accuracy of genomic selection, especially when the rate of missing genotypes is high and the reference population is small.     

基因组选择在家畜改良上的研究进展

基因组选择（GS）是全基因组范围内的分子标记辅助选择,目前被证明是利用DNA标记信息改善复杂性状最有效的方法。本文简要概述了基因辅助选择以及标记辅助选择;重点介绍了GS,包括GS的实施策略与育种值估计方法,GS的准确性获得以及对GS方法的比较,总结了当前家畜上利用GS加速遗传改良的应用进展;并对家畜在GS上的应用前景进行展望。     

Evaluation of a multi-line broiler chicken population using a single-step genomic evaluation procedure

Effects on prediction of analysing a multi-line chicken population as one line were evaluated. Body weight records were provided by Cobb-Vantress for two lines of broiler chickens. Phenotypic records for 183 695 and 164 149 broilers and genotypic records for 3195 and 3001 broilers were available for each line. Lines were combined to create a multi-line population and analysed using a single-step procedure combining the additive relationship matrix and the genomic relationship matrix (G). G was scaled using allele frequencies from each line, the multi-line population, or 0.5. When allele frequencies were calculated from each line, distributions of diagonal elements were bimodal. When allele frequencies were calculated from the multi-line population, the distribution of diagonal elements had one peak. When allele frequency 0.5 was used, the distribution was bimodal. Genomic estimated breeding values (GEBVs) were predicted using each allele frequency. GEBVs differed with allele frequency but had ≥ 0.99 correlations with GEBVs predicted with correct allele frequencies. Means of each line and differences in mean between the lines differed based on allele frequencies. Assumed allele frequencies have little impact on ranking within line but larger impact on ranking across lines. G may be used to evaluate multiple populations simultaneously but must be adjusted to obtain properly scaled estimates when population structure is unknown.     

基于基因组和系谱信息的不同选配方案效果模拟研究

基因组选配（genomic mating,GM）是利用基因组信息进行优化的选种选配,可以有效控制群体近交水平的同时实现最大化的遗传进展。但基因组选配是对群体中所有个体进行选配,这与实际的育种工作有点相悖。本研究模拟了遗传力为0.5的9 000头个体的基础群数据,每个世代根据GEBV选择30头公畜、900头母畜作为种用个体,而后使用基因组选配、同质选配、异质选配、随机交配4种不同的选配方案。其中基因组选配中分别选取遗传进展最大的解、家系间方差最大的解、近交最小的解所对应的交配方案进行选育。每种方案选育5个世代,比较其后代群体的平均GEBV、每世代的遗传进展、近交系数、遗传方差,并重复5次取平均值。结果表明,3种基因组选配方案的ΔG均显著高于随机交配和异质选配（P<0.01）,而且,选取遗传进展最大的基因组选配方案的ΔG比同质选配还高出4.3%。3种基因组选配的方案的ΔF比同质选配低22.2%~94.1%,而且选取近交最小的基因组选配方案ΔF比异质选配低11.8%。同质选配的遗传方差迅速降低,在第5世代显著低于除基因组选配中选择遗传进展最大的方案以外的所有方案（P<0.05）,3种基因组选配方案的遗传方差比同质选配高10.8%~32.2%。这表明基因组选配不仅可以获得比同质选配更高的遗传进展,同时有效的降低了近交水平,并且减缓了遗传方差降低速度,保证了一定的遗传变异。基因组选配作为一种有效的可持续育种方法,在畜禽育种中开展十分有必要。