The role of agro-ecological factors and transboundary transhumance in shaping the genetic diversity in four indigenous cattle populations of Benin

The indigenous cattle population of Benin is a diverse mix of taurine and hybrid breeds shaped by diverse ecological and climatic conditions with eight agro-ecological zones (AEZ). Presumably, the taurine breeds face current endangerment due to ongoing indicine introgression following climate change and transboundary transhumance. The aim of the study was to investigate the genetic diversity and population structure of the indigenous breeds Lagune, Somba, Pabli and Borgou considering spatial agro-ecological and socio-economic factors (transhumance) based on 50k SNP and microsatellite data. Among the four sampled breeds, six genetic clusters were identified using model-free (discriminant analysis of principal components) and model-based (TESS and ADMIXTURE) methods separating taurine from hybrid breeds. Results based on an extension with publicly available historic SNP data sets from taurine and indicine West African cattle and additional outgroups provided additional insight into changes of genetic structure in the sampled breeds over time. Both taurine breeds, Somba and Lagune, showed a stable foundation but also spatially limited partial indicine introgression associated with transhumance leading to high genetic diversity. In addition, we found evidence for spatial diversity and changes in genetic structure over time in the Borgou breed in comparison of our samples with the historic samples which could be explained by potential continuous indicine introgression into the Borgou breed in two sample regions. Results for the Pabli breed do not conclusively point to full absorbance by the Borgou in comparison with all available Borgou samples. Further research is needed in this regard.     

Association of a single nucleotide polymorphism in SPP1 with growth traits and twinning in a cattle population selected for twinning rate

Continued validation of genetic markers for economically important traits is crucial to establishing marker-assisted selection as a tool in the cattle industry. The objective of the current study was to evaluate the association of a SNP (T(9)/T(10)) in the osteopontin gene (SPP1) with growth rate in a large cattle population spanning multiple generations and representing alleles from 12 founding breeds. This population has been maintained at the US Meat Animal Research Center since 1981 and subjected to selection for twinning rate. Phenotypic records for this population included twinning rate and ovulation rate, providing an opportunity to examine the potential effects of SPP1 genotype on reproductive traits. A set of 2,701 animals was geno-typed for the T(9)/T(10) polymorphism at SPP1. The geno-typic data, including previously genotyped markers on chromosome 6 (BTA6), were used in conjunction with pedigree information to estimate genotypic probabilities for all 14,714 animals with phenotypic records. The genotypic probabilities for females were used to calculate independent variables for regressions of additive, dominance, and imprinting effects. Genotypic regressions were fit as fixed effects in a mixed model analysis, in which each trait was analyzed in a 2-trait model where single births were treated as a separate trait from twin births. The association of the SPP1 marker with birth weight (P < 0.006), weaning weight (P < 0.007), and yearling weight (P < 0.003) was consistent with the previously reported effects of SPP1 genotype on yearling weight. Our data supports the conclusion that the SNP successfully tracks functional alleles affecting growth in cattle. The previously undetected effect of the SNP on birth and weaning weight suggests this particular SPP1 marker may explain a portion of the phenotypic variance explained by QTL for birth and HCW on BTA6.     

Identification of differential selection traces in two Polish cattle breeds

Genetic improvement of animals based on artificial selection is leading to changes in the frequency of genes related to desirable production traits. The changes are reflected by the neutral, intergenic single nucleotide polymorphims (SNPs) being in long‐range linkage disequilibrium with functional polymorphisms. Genome‐wide SNP analysis tools designed for cattle, allow for scanning divergences in allelic frequencies between distinct breeds and thus for identification of genomic regions which were divergently selected in breeds' histories. In this study, by using Bovine SNP50 assay, we attempted to identify genomic regions showing the highest differences in allele frequencies between two distinct cattle breeds – preserved, unselected Polish Red breed and highly selected Holstein cattle. Our study revealed 19 genomic regions encompassing 55 protein‐coding genes and numerous quantitative trait loci which potentially may underlie some of the phenotypic traits distinguishing the breeds.     

利用基因组重测序技术鉴定黑安格斯牛的纯度

【目的】基于10头黑安格斯牛和60头对照组牛的全基因组重测序数据,分析黑安格斯牛的纯度、遗传多样性及群体结构。【方法】全基因组重测序技术和生物信息学方法。【结果】通过对10头黑安格斯牛全基因组数据进行分析,共检测到15,064,459个SNP位点,其核苷酸多样性（pi）为0.0015,观测杂合度（Ho）为0.2381,期望杂合度（He）为0.2430,表明黑安格斯牛的遗传多样性较低;主成分分析和群体遗传结构分析发现,黑安格斯牛与欧洲普通牛聚为一类,其中有4头黑安格斯牛存在偏离情况,表明这4头牛主要与中国瘤牛与东亚普通牛韩牛之间存在杂交。【结论】10头黑安格斯牛中,6头为纯种黑安格斯牛,4头为杂种牛。     

Performance of using opposing homozygotes for paternity testing in Japanese Black cattle

Genome-wide single nucleotide polymorphism (SNP) markers in Japanese Black cattle enable genomic prediction and verifying parent–offspring relationships. We assessed the performance of opposing homozygotes (OH) for paternity testing in Japanese Black cattle, using SNP genotype information of 50 sires and 3,420 fattened animals, 1,945 of which were fathered by the 50 genotyped sires. The number of OH was counted for each sire–progeny pair in 28,764 SNPs with minor allele frequencies of ≥0.05 in this population. Across all pairs of animals, the number of OH tended to increase as the pedigree-based coefficient of relationship decreased. With a threshold of 288 (1% of SNPs) for paternity testing, most sire–progeny pairs were detected as true relationships. The frequency of Mendelian inconsistencies was 2.4%, reflecting the high accuracy of pedigree information in Japanese Black cattle population. The results indicate the utility of OH for paternity testing in Japanese Black cattle.     

Partial-genome evaluation of postweaning feed intake and efficiency of crossbred beef cattle

The effects of individual SNP and the variation explained by sets of SNP associated with DMI, metabolic midtest BW, BW gain, and feed efficiency, expressed as phenotypic and genetic residual feed intake, were estimated from BW and the individual feed intake of 1,159 steers on dry lot offered a 3.0 Mcal/kg ration for at least 119 d before slaughter. Parents of these F(1) × F(1) (F(1)(2)) steers were AI-sired F(1) progeny of Angus, Charolais, Gelbvieh, Hereford, Limousin, Red Angus, and Simmental bulls mated to US Meat Animal Research Center Angus, Hereford, and MARC III composite females. Steers were genotyped with the BovineSNP50 BeadChip assay (Illumina Inc., San Diego, CA). Effects of 44,163 SNP having minor allele frequencies >0.05 in the F(1)(2) generation were estimated with a mixed model that included genotype, breed composition, heterosis, age of dam, and slaughter date contemporary groups as fixed effects, and a random additive genetic effect with recorded pedigree relationships among animals. Variance in this population attributable to sets of SNP was estimated with models that partitioned the additive genetic effect into a polygenic component attributable to pedigree relationships and a genotypic component attributable to genotypic relationships. The sets of SNP evaluated were the full set of 44,163 SNP and subsets containing 6 to 40,000 SNP selected according to association with phenotype. Ninety SNP were strongly associated (P < 0.0001) with at least 1 efficiency or component trait; these 90 accounted for 28 to 46% of the total additive genetic variance of each trait. Trait-specific sets containing 96 SNP having the strongest associations with each trait explained 50 to 87% of additive variance for that trait. Expected accuracy of steer breeding values predicted with pedigree and genotypic relationships exceeded the accuracy of their sires predicted without genotypic information, although gains in accuracy were not sufficient to encourage that performance testing be replaced by genotyping and genomic evaluations.     

Estimation of variance components for carcass traits in Japanese Black cattle using 50K SNP genotype data

Genomic selection using high‐density single nucleotide polymorphism (SNP) genotype data may accelerate genetic improvements in livestock animals. In this study, we attempted to estimate the variance components of six carcass traits in fattened Japanese Black steers using SNP genotype data. Six hundred and seventy‐three steers were genotyped using an Illumina Bovine SNP50 BeadChip and phenotyped for cold carcass weight, ribeye area, rib thickness, subcutaneous fat thickness, estimated yield percent and marbling score. Additive polygenic variance and the variance attributable to a set of SNPs that had statistically significant effects on the trait were estimated via Gibbs sampling with two models: (i) a model with the chosen SNPs and the additive polygenic effects; and (ii) a model with the polygenic effects alone. The proportion of the estimated variance attributable to the SNPs became higher as the number of SNP effects that fit increased. High correlations between breeding values estimated with the model containing the polygenic effect alone and those estimated by chosen SNPs were obtained. No fraction of the total genetic variance was explained by SNPs associated with the trait at P ≥ 0.1. Our results suggest that for the carcass traits of Japanese Black cattle, a maximum of half of the total additive genetic variance may be explained by SNPs between 100 several tens to several 100s.     

隆林牛与郏县红牛线粒体DNA全基因组遗传多样性比较研究

摘　要：［目的］本研究旨在从基因组水平探究隆林牛和郏县红牛的线粒体DNA（mtDNA）全基因组遗传多样性与母系起源,并对2个黄牛品种的mtDNA全基因组遗传多样性进行比较分析。［方法］采用全基因组重测序及生物信息学方法。［结果］在15头隆林牛和28头郏县红牛mtDNA全基因组序列中,共检测到36种单倍型,其中郏县红牛有26种单倍型,隆林牛仅有8种单倍型,2个黄牛品种共享2种单倍型。郏县红牛和隆林牛的平均单倍型多样度（Hd）分别为1.000和0.943,平均核苷酸多样度（Pi）分别为0.0080和0.0053,表明其遗传多样性丰富。构建的系统发育树表明,隆林牛和郏县红牛具有瘤牛和普通牛两个母系支系。［结论］隆林牛以瘤牛起源为主,郏县红牛为普通牛与瘤牛的混合起源,这2个地方黄牛品种具有独特的母系遗传信息,表现出明显的母系遗传差异。     

Power of a genome scan to detect and locate quantitative trait loci in cattle using dense single nucleotide polymorphisms

There is increasing use of dense single nucleotide polymorphisms (SNPs) for whole‐genome association studies (WGAS) in livestock to map and identify quantitative trait loci (QTL). These studies rely on linkage disequilibrium (LD) to detect an association between SNP genotypes and phenotypes. The power and precision of these WGAS are unknown, and will depend on the extent of LD in the experimental population. One complication for WGAS in livestock populations is that they typically consist of many paternal half‐sib families, and in some cases full‐sib families; unless this subtle population stratification is accounted for, many spurious associations may be reported. Our aim was to investigate the power, precision and false discovery rates of WGAS for QTL discovery, with a commercial SNP array, given existing patterns of LD in cattle. We also tested the efficiency of selective genotyping animals. A total of 365 cattle were genotyped for 9232 SNPs. We simulated a QTL effect as well as polygenic and environmental effects for all animals. One QTL was simulated on a randomly chosen SNP and accounted for 5%, 10% or 18% of the total variance. The power to detect a moderate‐sized additive QTL (5% of the phenotypic variance) with 365 animals genotyped was 37% (p < 0.001). Most importantly, if pedigree structure was not accounted for, the number of false positives significantly increased above those expected by chance alone. Selective genotyping also resulted in a significant increase in false positives, even when pedigree structure was accounted for.     

深县猪mtDNA CytB基因的遗传多样性与母系起源研究

 研究过氧化物酶体增殖激活受体α (PPARα) 基因第7外显子SNP位点与牛的部分胴体、肉质性状的相关性。以6个牛品种(秦川牛、南阳牛、郏县红牛、鲁西牛、安格斯、夏南牛) 共计717个个体为研究对象,采用PCR SSCP结合DNA测序方法对PPARα基因第7外显子进行SNP检测,并该SNP位点与108头秦川牛的部分胴体、肉质性状的相关性进行分析。结果发现在PPARα基因第7外显子的184位检测到C→T突变,在南阳牛、秦川牛、郏县红牛、安格斯、鲁西牛、夏南牛这6个群体中等位基因E/F的频率分别是0.225/0.775,0.151/0.849,0.125/0.875,0.123/0.877,0.070/0.930, 0.157/0.783;遗传学指标结果显示：秦川牛、郏县红牛、安格斯、鲁西牛和夏南牛这5个群体属于低度多态(PIC<0.25),南阳牛为中度多态（PIC=0.288）;相关分析结果显示：该位点与秦川牛的背膘厚和胴体长两个性状显著相关,表现为FF基因型个体在背膘厚性状方面显著高于EE和EF基因型个体(P<0.05),FF基因型个体的胴体长显著高于EE基因型个体(P<0.05)。这一位点可能是影响牛背膘厚和胴体长的主效QTN或与之紧密连锁,可做为肉牛选育的候选分子标记。     

Single nucleotide polymorphism association study for backfat and intramuscular fat content in the region between SW2098 and SW1881 on pig chromosome 6

This study was carried out to identify SNP associated with fatness traits on pig chromosome 6. In total, 11,067 putative genomic variations were detected in 125 complete bacterial artificial chromosome sequences corresponding to the region between SW2098 and SW1881, which harbors multiple QTL affecting intramuscular fat content (IMF) and backfat thickness (BFT). Among 173 putative SNP validated by MassArray, 120 SNP were used in an association study on 541 offspring produced by a cross of Korean native pig and Landrace breeds. The significance level of each SNP was determined using single marker regression analysis. Further, significant threshold values were determined using a false discovery rate. Nine out of 120 SNP showed significant effects on BFT or IMF or both. Of the 9 significant SNP, 4 were significantly associated with IMF, 7 were significantly related to BFT, and 2 SNP (Kps8172 and Kps6413) showed significant effects on both traits. Moreover, multiple regression analysis considering all significant SNP was used to correct spurious false positives due to linkage disequilibrium. Consequently, only 1 SNP (Kps6413) was significant for IMF, whereas 4 SNP including Kps6413 showed significant effects on BFT. The significant SNP had generally additive effects and on average explained 1.72% of the genetic variation for IMF and 3.92% for BFT, respectively. These markers can potentially be applied in pig breeding programs for improving IMF and BFT traits after validation in other populations.     

Purebred-crossbred performance and genetic evaluation of postweaning growth and carcass traits in Bos indicus x Bos taurus crosses in Australia

Growth and carcass data on 7,154 cattle from a purebred project and 1,241 cattle from a crossbred project, comprising 916 first-crosses and 325 purebred Brahman controls, were analyzed to estimate genetic parameters, including the genetic correlations between purebred and crossbred performance (rpc). The data also allowed the estimation of sire breed means for various growth and carcass traits. Crossbred calves were produced using 9 Angus, 8 Hereford, 7 Shorthorn, 14 Belmont Red, and 8 Santa Gertrudis sires bred to Brahman dams. These same sires produced 1,568 progeny in a separate purebreeding project. Cattle in both projects were managed under two finishing regimens (pasture and feedlot) to representative market live weights of 400 (domestic), 520 (Korean), and 600 kg (Japanese). The traits studied included live weight at around 400 d of age (400W), hot carcass weight (CWT), retail beef yield percentage (RBY), intramuscular fat percentage (IMF), rump fat depth (P8), and preslaughter ultrasound scanned eye muscle area (SEMA). Estimated breeding values (EBV) of sires from their BREEDPLAN genetic evaluations were used to assess their value in predicting crossbred performance. Regressions of actual crossbred calf performance on sire EBV for each of the traits differed little from their expectation of 0.5. Angus sires produced crossbred carcasses with the highest P8 and lowest RBY but highest IMF. In contrast, crossbred progeny from Belmont Red sires had the lightest 400W and CWT, lowest P8, and highest RBY. Estimates of rpc were 0.48, 0.48, 0.83, 0.95, 1.00, and 0.78 for 400W, CWT, RBY, IMF, P8, and SEMA, respectively. Commercial breeders selecting sires for crossbreeding programs with Brahman females, based on EBV computed from purebred data, might encounter some reranking of sire's performance for weight-related traits, with little expected change in carcass traits.     

Genome-wide association studies for feedlot and growth traits in cattle

A genome wide-association study for production traits in cattle was carried out using genotype data from the 10K Affymetrix (Santa Clara, CA) and the 50K Illumina (San Diego, CA) SNP chips. The results for residual feed intake (RFI), BW, and hip height in 3 beef breed types (Bos indicus, Bos taurus, and B. indicus × B. taurus), and for stature in dairy cattle, are presented. The aims were to discover SNP associated with all traits studied, but especially RFI, and further to test the consistency of SNP effects across different cattle populations and breed types. The data were analyzed within data sets and within breed types by using a mixed model and fitting 1 SNP at a time. In each case, the number of significant SNP was more than expected by chance alone. A total of 75 SNP from the reference population with 50K chip data were significant (P < 0.001) for RFI, with a false discovery rate of 68%. These 75 SNP were mapped on 24 different BTA. Of the 75 SNP, the 9 most significant SNP were detected on BTA 3, 5, 7, and 8, with P ≤ 6.0 × 10(-5). In a population of Angus cattle divergently selected for high and low RFI and 10K chip data, 111 SNP were significantly (P < 0.001) associated with RFI, with a false discovery rate of 7%. Approximately 103 of these SNP were therefore likely to represent true positives. Because of the small number of SNP common to both the 10K and 50K SNP chips, only 27 SNP were significantly (P < 0.05) associated with RFI in the 2 populations. However, other chromosome regions were found that contained SNP significantly associated with RFI in both data sets, although no SNP within the region showed a consistent effect on RFI. The SNP effects were consistent between data sets only when estimated within the same breed type.     

Improving accuracy of genomic prediction in Brangus cattle by adding animals with imputed low‐density SNP genotypes

Reliable genomic prediction of breeding values for quantitative traits requires the availability of sufficient number of animals with genotypes and phenotypes in the training set. As of 31 October 2016, there were 3,797 Brangus animals with genotypes and phenotypes. These Brangus animals were genotyped using different commercial SNP chips. Of them, the largest group consisted of 1,535 animals genotyped by the GGP‐LDV4 SNP chip. The remaining 2,262 genotypes were imputed to the SNP content of the GGP‐LDV4 chip, so that the number of animals available for training the genomic prediction models was more than doubled. The present study showed that the pooling of animals with both original or imputed 40K SNP genotypes substantially increased genomic prediction accuracies on the ten traits. By supplementing imputed genotypes, the relative gains in genomic prediction accuracies on estimated breeding values (EBV) were from 12.60% to 31.27%, and the relative gain in genomic prediction accuracies on de‐regressed EBV was slightly small (i.e. 0.87%–18.75%). The present study also compared the performance of five genomic prediction models and two cross‐validation methods. The five genomic models predicted EBV and de‐regressed EBV of the ten traits similarly well. Of the two cross‐validation methods, leave‐one‐out cross‐validation maximized the number of animals at the stage of training for genomic prediction. Genomic prediction accuracy (GPA) on the ten quantitative traits was validated in 1,106 newly genotyped Brangus animals based on the SNP effects estimated in the previous set of 3,797 Brangus animals, and they were slightly lower than GPA in the original data. The present study was the first to leverage currently available genotype and phenotype resources in order to harness genomic prediction in Brangus beef cattle.     

Confirmation of quantitative trait loci using a low-density single nucleotide polymorphism map for twinning and ovulation rate on bovine chromosome 5

Traditional genetic selection in cattle for traits with low heritability, such as reproduction, has had very little success. With the addition of DNA technologies to the genetic selection toolbox for livestock, the opportunity may exist to improve reproductive efficiency more rapidly in cattle. The US Meat Animal Research Center Production Efficiency Population has 9,186 twinning and 29,571 ovulation rate records for multiple generations of animals, but a significant number of these animals do not have tissue samples available for DNA genotyping. The objectives of this study were to confirm QTL for twinning and ovulation rate previously found on BTA5 and to evaluate the ability of GenoProb to predict genotypic information in a pedigree containing 16,035 animals when using genotypes for 24 SNP from 3 data sets containing 48, 724, or 2,900 animals. Marker data for 21 microsatellites on BTA5 with 297 to 3,395 animals per marker were used in conjunction with each data set of genotyped animals. Genotypic probabilities for females were used to calculate independent variables for regressions of additive, dominance, and imprinting effects. Genotypic regressions were fitted as fixed effects in a 2-trait mixed model analysis by using multiple-trait derivative-free REML. Each SNP was analyzed individually, followed by backward selection fitting all individually significant SNP simultaneously and then removing the least significant SNP until only significant SNP were left. Five significant SNP associations were detected for twinning rate and 3 were detected for ovulation rate. Two of these SNP, 1 for each trait, were significant for imprinting. Additional modeling of paternal and maternal allelic effects confirmed the initial results of imprinting done by contrasting heterozygotes. These results are supported by comparative mapping of mouse and human imprinted genes to this region of bovine chromosome 5.     

郏县红牛TAFA1基因多态性及其与生长性状的关联分析

本研究旨在探讨TAFA趋化素样家族成员1（TAFA1）基因多态性与郏县红牛生长的关联性。试验共采集了79头郏县红牛成年母牛的血样并提取基因组DNA,利用直接测序法对TAFA1基因上的错义突变SNP rs137516577进行基因型分型,并与郏县红牛体高、体长、胸围、腰角宽、坐骨端宽、尻长、十字部高、荐高、胸深、胸宽、体重等11个生长和体尺性状进行关联分析。同时根据“Animal Omics Datebase”数据库对TAFA1基因的组织表达情况进行分析。结果发现该SNP与体长、腰角宽、坐骨端宽、尻长和体重等性状显著相关（P<0.05）,且GC型个体体长、腰角宽、坐骨端宽、尻长和体重均显著高于GG型（P<0.05）。TAFA1基因在牛大脑组织中表达量最高。结果表明,TAFA1基因上错义突变SNP rs137516577与郏县红牛生长性状相关,可作为郏县红牛生长性状的分子标记。     

Mapping the quantitative trait loci (QTL) for body shape and conformation measurements on BTA1 in Japanese Black cattle

The detection and mapping of segregating quantitative trait loci (QTL) that influence withers height, hip height, hip width, body length, chest width, chest depth, shoulder width, lumbar width, thurl width, pin bone width, rump length, cannon circumference, chest girth, abdominal width and abdominal girth at weaning was conducted on chromosomal regions of bovine chromosome one. The QTL analysis was performed by genotyping half‐sib progeny of five Japanese Black sires using microsatellite DNA markers. Probability coefficients of inheriting allele 1 or 2 from the sire at specific chromosomal locations were computed. The phenotypic data of progeny were regressed on these probability coefficients in a within‐common‐parent regression analysis using a linear model that included fixed effects of sex, parity and season of birth, as well as age as a covariate. F‐statistics were calculated every 1 cM on a linkage map. Permutation tests of 10 000 iterations were conducted to obtain chromosome‐wide significance thresholds. A significant QTL for chest width was detected at 91 cM in family 3. The detection of this QTL boosts the prospects of implementing marker‐assisted selection for body conformation traits in Japanese Black beef cattle.     

西门塔尔牛与我国地方黄牛的杂种优势预测分析

旨在利用覆盖全基因组和与性状相关的SNPs标记分析西门塔尔牛和地方黄牛两个亲本群体的遗传结构,通过亲本种群之间的遗传距离预测不同杂交组合在生长、胴体和肉质性状上的杂种优势.本研究选择来自内蒙古锡林郭勒盟乌拉盖管理区牧场的1 222头西门塔尔牛和8个地方黄牛品种190头共组成8个杂交组合,对亲本群体进行遗传结构分析.利用...     

Detection of chromosome segments of zebu and taurine origin and their effect on beef production and growth

Cattle in breeds formed by recent crossing of Bos taurus (Bt) and Bos indicus (Bi) subspecies should contain chromosomes that are a composite of Bt and Bt segments. Using data from a 50K SNP chip, we were able to identify whether a chromosome segment of 11 SNP in a composite animal descended from a Bt or a Bi ancestor. When the method was tested in purebred Bt or Brahman cattle, about 94% of segments were assigned correctly. About 10% of the genome in Australian Brahman cattle appears to be of Bt origin, as might be expected from their history. We then examined the effect of the origin of each chromosome segment on BW in a population of 515 Bt × Bi composite cattle and found 67 chromosome segments with a significant (P<0.01) effect. We confirmed these effects by examining these 67 segments in a population of Brahman cattle and in a population of mixed breeds including composite breeds such as Santa Gertrudis and Brahman cattle. About 66% of the 67 segments had an effect in the same direction in the confirmation analyses as in the discovery population. However, the effect on BW and other traits of chromosome segment origin is small, indicating that we had low power to detect these effects with the number of animals available. Consequently, when chromosome segment origin was used in genomic selection to predict BW, the accuracy was low (0.08). Chromosome segments that had a positive effect on BW tend to be at greater frequency in composite breeds than chromosome segments with a negative effect on BW.