Estimation of effective population size from the rate of coancestry in pedigreed populations

We introduce a simple method to estimate effective population size from increase in coancestry (Δc(jk)) for all pairs of individuals j and k in a reference subpopulation. An increase in pairwise coancestry for any pair of individuals j and k can be defined assuming that a hypothetical mating between them would give an individual with an inbreeding coefficient equal to c(jk), where c(jk) is the coancestry coefficient between the individuals j and k. The equivalent measure to discrete generations value (g(jk)) corresponding to the individual jk can be computed by averaging discrete equivalents generations of its parents (g(j) and g(k)). The mean increase in coancestry for all pairs of individuals in a reference subpopulation can be used to estimate a realized effective population size based on coancestries that would provide information on the effective size of a population under random mating. Performance of the new parameter was tested on simulated and empirical (horse) populations with different mating strategies and population structures. The routines needed to compute the introduced parameters have been included in a new version of the program ENDOG.     

不同群体规模下闭锁群体遗传漂变的模拟

为了研究在施行随机留种、随机交配、世代不重叠、群体间个体无迁移、整个保种过程中基因不发生突变的原位保种群体中遗传漂变的变化情况,试验采用计算机模拟方法针对不同群体规模下闭锁群体基因频率、基因型频率在50个世代中的变化进行研究。结果表明:群体规模越大,基因频率、基因型频率在世代间波动的幅度越小,因此世代间随机遗传漂变基因被固定或丢失的概率越小。     

The concept of effective population size loses its meaning in the context of optimal management of diversity using molecular markers

Effective population size is a key parameter in conservation genetics. In the management of conservation programs using pedigree information, there is a consensus that the optimal method for maximizing effective population size is to calculate the contribution of each potential parent (the number of offspring that each individual leaves to the next generation) by minimizing the global pedigree-based coancestry between potential parents weighted by their contributions. When using molecular data, the optimal method for managing genetic diversity will remain the same but now the molecular coancestry calculated from markers will replace the pedigree-based coancestry. However, in this situation, the concept of effective population size loses its meaning because with optimal molecular management, genetic diversity increases in early generations and therefore effective population size takes negative values. Furthermore, in the long term, the molecular effective population size does not attain an asymptotic value but it shows an unpredictable behaviour.     

Population Structure Among Progeny-tested Bulls of the Red Dairy Breeds in Finland,Norway and Sweden

Abstract

The Icelandic cattle breed is believed to have been brought to Iceland from Norway around 1100 years ago. Since then it is thought to have been almost completely isolated and to have gone through large fluctuations in population size. Here molecular markers were used to assess the breed's genetic diversity and the current within-population genetic structure using a randomly selected unbiased sample from the population as verified by calculations of the coefficient of relationship (R). Measures of genetic diversity suggest that there is considerable diversity within the breed despite long-term isolation and the effective population size is high considering the isolation and the breeding system used in recent years. No evidence of recent bottlenecks was found and analysis of population structure suggests that the population is uniform in structure.     

Application of individual increase in inbreeding to estimate realized effective sizes from real pedigrees

The objective of this study was to test the performance of a recently proposed methodology for the estimation of realized effective size (N(e)) based on individual increase in inbreeding (DeltaF(i)) on several real pedigrees: (a) an experimental mice population; (b) a closed pedigree of fighting bulls; (c) the Spanish Purebred (SPB, Andalusian) horse pedigree; (d) the Carthusian strain of SPB pedigree; (e) the Spanish Arab horse pedigree; and (f) the Spanish Anglo-Arab horse pedigree. Several reference subpopulations were defined on the basis of generation length in order to consider only animals in the last generation, to assess the influence of the pedigree content on the estimates of N(e). The estimates of realized N(e) computed from DeltaF(i) (Ne) tended to be higher than those obtained from regression on equivalent generations. The new parameter Ne remained approximately stable when pedigree depth achieved about five equivalent generations. Estimates of take into account the genetic history of the populations, the size of their founder population, and the mating policy or bottlenecks caused by poor use of reproducing individuals. The usefulness of the realized N(e) computed from individual increase in inbreeding in real pedigrees is also discussed.     

Efficient selection against categorically scored hip dysplasia in dogs is possible using best linear unbiased prediction and optimum contribution selection: a simulation study

Breeding to reduce the prevalence of categorically scored hip dysplasia (HD), based on phenotypic assessment of radiographic hip status, has had limited success. The aim of this study was to evaluate two selection strategies for improved hip status: truncation selection based on phenotypic record versus best linear unbiased prediction (BLUP), using stochastic simulation and selection scenarios resembling those in real dog populations. In addition, optimum contribution selection (OCS) was evaluated. Two traits were considered: HD (as a categorical trait with five classes and a heritability of 0.45 on the liability scale) and a continuous trait (with a heritability of 0.25) intended to represent other characteristics in the breeding goal. A population structure mimicking that in real dog populations was modelled. The categorical nature of HD caused a considerably lower genetic gain compared to simulating HD as a continuous trait. Genetic gain was larger for BLUP selection than for phenotypic selection in all scenarios. However, BLUP selection resulted in higher rates of inbreeding. By applying OCS, the rate of inbreeding was lowered to about the same level as phenotypic selection but with increased genetic improvement. For efficient selection against HD, use of BLUP breeding values should be prioritized. In small populations, BLUP should be used together with OCS or similar strategy to maintain genetic variation.     

Effective population size and inbreeding depression on litter size in rabbits. A case study

The purpose of this study is to use demographic and litter size data on four Spanish maternal lines of rabbits (A, V, H and LP), as a case study, in order to: (i) estimate the effective population size of the lines, as a measure of the rate of increase of inbreeding, and (ii) study whether the inbreeding effect on litter size traits depends on the pattern of its accumulation over time. The lines are being selected for litter size at weaning and are kept closed at the same selection nucleus under the same selection and management programme. The study considered 47 794 l and a pedigree of 14 622 animals. Some practices in mating and selection management allow an increase of the inbreeding coefficient lower than 0.01 per generation in these lines of around 25 males and 125 females. Their effective population size (Ne) was around 57.3, showing that the effect of selection, increasing the inbreeding, was counterbalanced by the management practices, intended to reduce the rate of inbreeding increase. The inbreeding of each individual was broken down into three components: old, intermediate and new inbreeding. The coefficients of regression of the old, intermediate and new inbreeding on total born (TB), number born alive (NBA) and number weaned (NW) per litter showed a decreasing trend from positive to negative values. Regression coefficients significantly different from zero were those for the old inbreeding on TB (6.79 ± 2.37) and NBA (5.92 ± 2.37). The contrast between the coefficients of regression between the old and new inbreeding were significant for the three litter size traits: 7.57 ± 1.72 for TB; 6.66 ± 1.73 for NBA and 5.13 ± 1.67 for NW. These results have been interpreted as the combined action of purging unfavourable genes and artificial selection favoured by the inbreeding throughout the generations of selection.     

Evaluation of inbreeding and genetic diversity in Japanese Shorthorn cattle by pedigree analysis

The Japanese Shorthorn is a Japanese Wagyu breed maintained at a small population size. We assessed the degree of inbreeding and genetic diversity among Japanese Shorthorn cattle using pedigree analysis. We analyzed the pedigree records of registered Japanese Shorthorn born between 1980 and 2018, after evaluating the pedigree completeness. The average of the actual inbreeding coefficients increased at the same rates annually from approximately 1.5% in 1980 to 4.2% in 2018 and was higher than the expected inbreeding coefficients over time. The effective population size based on the individual coancestry rate largely decreased from 127.8 in 1980 to 82.6 in 1999, and then remained almost constant at approximately 90. Three effective numbers of ancestors decreased over time until 1995, then remained almost constant. In particular, the effective number of founder genomes (N_ge) decreased from 43.8 in 1980 to 11.9 in 2018. The index of genetic diversity based on N_ge decreased from 0.99 in 1980 to 0.96 in 2018 due to genetic drift in non-founder generations. Changes in inbreeding and genetic diversity parameters were similar between Japanese Shorthorn and other Japanese Wagyu breeds, but the magnitude of the changes was lower in the Japanese Shorthorn.     

闭锁群体BLUP选择下遗传方差和近交系数的变化

采用计算机随机模拟方法模拟了在一个闭锁群体内连续对单个性状进行 1 5个世代选择的情况。选择过程中世代不重叠 ,每个世代的种畜根据动物模型最佳线性无偏预测 (BLUP)法估计的育种值进行选留 ,并在此基础上系统地比较了不同群体规模、公母比例和性状遗传力对群体遗传方差和近交系数变化的影响。结果表明 ,扩大育种群规模、增加公畜比例以及对低遗传力性状进行选择时 ,群体遗传方差降低的速度和近交系数上升的速度会更慢 ,在长期选择时可望获得更大的持续进展和适宜的近交增量     

Pedigree analysis in the Brazilian Zebu breeds

Zebu breeds play an important role in cattle production systems in Brazil. To assess the genetic variability from animals in the Herd Books of Nelore, Gir and Guzerat breeds, generation intervals, inbreeding, effective population size and parameters of gene origin (effective number of founders, ancestors and founder genomes) were calculated using pedigree records from 1938 to 1998. Breed subdivision was quantified by Wright's F -statistics. Calculations were separately carried out for consecutive 4-year intervals in the period 1979–98. Generation interval was around 8 years for the three breeds. Total inbreeding increased in all the breeds reaching values of 2.13%, 2.28% and 1.75%. Effective population size decreased from 85 to 68 in Nelore, from 70 to 45 in Gir and remained nearly constant around 104 in Guzerat. The quantities assessing the number of contributing ancestors decreased with time in all the breeds, and in the last analysed period the most important ancestor accounted for 14%, 3.1% and 4.1% in Nelore, Gir and Guzerat, respectively. Results indicate that the studied breeds are suffering from a loss of genetic variability which can result in negative effects on breeding and conservation purposes.     

大额牛的群体生存现状与保种措施

本文阐述了大额牛的品种特性、种群现状和保种措施.大额牛保种可采用原产地活体保种,迁地活体保种和现代生物技术保种.大额牛体型较大,产肉性能好、行动敏捷、结构紧凑、肌肉发达、肉质优良、耐粗饲、适应性、繁殖力和抗病力均较强等特点.种群体数量极小.大额牛是云南省一个地方品种,保种工作刻不容缓.     

恩施黑猪基因组群体遗传学参数的估计与选择信号研究

旨在调查恩施黑猪基因组群体遗传学参数与选择信号。本研究利用Porcine 80K SNP芯片,通过计算亲缘系数、近交系数、连锁不平衡程度与有效群体大小等群体遗传学层面的参数评估恩施黑猪种群结构关系,运用CLR和iHS方法检测恩施黑猪基因组选择信号,并通过生物信息学分析揭示其潜在受选择基因。亲缘系数计算发现,咸丰县恩施黑猪个体间平均亲缘系数为0.12;近交系数计算表明, 16%的样本近交系数大于0.125,存在明显近交累积。此外,本研究构建了恩施黑猪全基因组连锁不平衡图谱;利用连锁不平衡信息,恩施黑猪估计历史有效群体大小呈现逐代下降趋势,其中5世代前有效群体大小约为25头。基于CLR方法共检测到126个显著选择信号候选区域,总长约为51.6 Mb,占基因组总长的2.1%。利用iHS方法,共发现248个显著选择信号候选区域,长度约为78.78 Mb,约占基因组总长的3.2%。富集分析表明,与选择信号区域重叠的LPAR2、NDUFA13、MEF2B、AHR基因分别与胴体长度(滴水损失)、精子形成、骨骼肌分化和总产仔数相关。研究表明,现存恩施黑猪群体血统较窄,近交累积严重,有效群体大小较小,并呈现继续缩小的趋势。选择信号分析揭示的一系列潜在受选择基因能够为未来恩施黑猪的遗传改良提供一定的参考依据。     

Half of 23 Belgian dog breeds has a compromised genetic diversity,as revealed by genealogical and molecular data analysis

The genetic diversity in 23 dog breeds raised in Belgium was investigated using both genealogical analysis and microsatellite markers. Some of these breeds are native breeds, with only small populations maintained. Pedigree and molecular data, obtained from the Belgian kennel club, were used to calculate the inbreeding coefficients, realised effective population size as well as probabilities of gene origin and average observed heterozygosity. Inbreeding coefficients ranged from 0.8 to 44.7% and realised effective population size varied between 3.2 and 829.1, according to the used method and breed. Mean observed heterozygosity ranged from 0.47 to 0.73. Both pedigree and molecular methods reveal low genetic diversity and presence of bottlenecks, especially in native Belgian breeds with small population sizes. Furthermore, principal component analysis on the set of investigated diversity parameters revealed no groups of breeds that could be identified in which similar breeding strategies could be applied to maintain genetic diversity.     

Population genomics provides insights into the evolution and adaptation of tree shrews (Tupaia belangeri) in China

Physiological adaptation of tree shrews (Tupaia belangeri) to changing environmental temperature has been reported in detail. However, the T. belangeri origin (mainland or island), population history, and adaptation to historical climate change remain largely unknown or controversial. Here, for the first time, we sequenced the simplified genome of 134 T. belangeri individuals from 12 populations in China and further resequenced one individual from each population. Using population genomic approaches, we first observed considerable genetic variation in T. belangeri. Moreover, T. belangeri populations formed obvious genetic structure and reflected different demographic histories; they generally exhibited high genetic diversity, although the isolated populations had relatively low genetic diversity. The results presented in this study indicate that T. b. modesta and T. b. tonquinia were separated recently and with a similar population dynamics. Second, physical barriers rather than distance were the driving factors of divergence, and environmental heterogeneity may play an important role in genetic differentiation in T. belangeri. Moreover, our analyses highlight the role of historical global climates in the T. belangeri population dynamics and indicate that the decrease of the T. belangeri population size may be due to the low temperature. Finally, we identified the olfaction-associated adaptive genes between different altitude populations and found that olfactory-related genes of high-altitude populations were selectively eliminated. Our study provides demographic history knowledge of T. belangeri; their adaption history offers new insights into their evolution and adaptation, and provides valuable baseline information for conservation measures.     

Genetic description of a divergent selection experiment in Angora rabbits with overlapping generations

The chief aims of this paper were the following: (i) to describe the demography and genetic structure in two divergent selected lines for total fleece weight (TFW) of French Angora rabbits with overlapping generations; (ii) to describe the effects of inbreeding during an experiment of divergent selection. A study of longevity with the survival kit showed that there was no significant difference in the risk of death or culling between the low line (LL) and high line (HL). A significant effect of inbreeding (p < 0.05) was observed with a 30% higher risk factor in the highest class of inbreeding coefficient compared with the other classes. The means of generation interval were 562 and 601 days in LL and HL, respectively. The numbers of generations for LL and HL were 3.90 and 3.64, respectively. Generation intervals decreased significantly from 1995 to 2000 (p < 0.05). The number of daughters in HL was very variable. The number of animals per generation was higher in HL than in LL. Each buck left nearly three daughters to the next generation (2.52 in LL, 3.24 in HL). In both lines, the effective number of ancestor genomes still present in the genetic pool of the generation was around eight from the reference population of 1995 to that of 2001. Inbreeding in HL was always higher than in LL. The effect of inbreeding was also significant (p < 0.05) on TFW and live weight. The animals with the lowest inbreeding category produced a higher TFW (p < 0.05) than the others. The observed selection differentials were lower than that expected owing to the breeding animal management rules in order to control inbreeding increase.     

Inbreeding in genome-wide selection

Traditional selection methods, such as sib and best linear unbiased prediction (BLUP) selection, which increased genetic gain by increasing accuracy of evaluation have also led to an increased rate of inbreeding per generation (DeltaFG). This is not necessarily the case with genome-wide selection, which also increases genetic gain by increasing accuracy. This paper explains why genome-wide selection reduces DeltaFG when compared with sib and BLUP selection. Genome-wide selection achieves high accuracies of estimated breeding values through better prediction of the Mendelian sampling term component of breeding values. This increases differentiation between sibs and reduces coselection of sibs and DeltaFG. The high accuracy of genome-wide selection is expected to reduce the between family variance and reweigh the emphasis of estimated breeding values of individuals towards the Mendelian sampling term. Moreover, estimation induced intraclass correlations of sibs are expected to be lower in genome-wide selection leading to a further decrease of coselection of sibs when compared with BLUP. Genome-wide prediction of breeding values, therefore, enables increased genetic gain while at the same time reducing DeltaFG when compared with sib and BLUP selection.     

Prediction of response to marker-assisted and genomic selection using selection index theory

Selection index methods can be used for deterministic assessment of the potential benefit of including marker information in genetic improvement programmes using marker-assisted selection (MAS). By specifying estimates of breeding values derived from marker information (M-EBV) as a correlated trait with heritability equal to 1, it was demonstrated that marker information can be incorporated in standard software for selection index predictions of response and rates of inbreeding, which requires specifying phenotypic traits and their genetic parameters. Path coefficient methods were used to derive genetic and phenotypic correlations between M-EBV and the phenotypic data. Methods were extended to multi-trait selection and to the case when M-EBV are based on high-density marker genotype data, as in genomic selection. Methods were applied to several example scenarios, which confirmed previous results that MAS substantially increases response to selection but also demonstrated that MAS can result in substantial reductions in the rates of inbreeding. Although further validation by stochastic simulation is required, the developed methodology provides an easy means of deterministically evaluating the potential benefits of MAS and to optimize selection strategies with availability of marker data.     

Comparison of genetic improvement for litter size at birth by direct and indirect selection in swine herd

Responses to selection for number of piglets born alive (NBA) by the total number of piglets born (TNB), the NBA, and the NBA plus number of piglets born dead (NBD) were compared using the accuracy of selection and expected genetic gain calculated from the selection index with family information and the real response to selection, using data generated by Monte Carlo computer simulation. The accuracy of selection for NBA selected by TNB was higher than that by NBA only if the genetic correlation between TNB and NBA was close to 1.0, or the value of heritability for the TNB was much larger than that for the NBA. The accuracy of selection for the NBA selected by the combination of the TNB and the NBA was generally highest in the three selection methods in each family structure. Selection by the TNB resulted in the greatest expected genetic gain for the TNB among the selection methods. In the best linear unbiased prediction (BLUP) selection, the genetic gain for the NBA accumulated by the NBA tended to be similar to that accumulated by the combination of the NBA and the NBD, and both genetic gains at generation 10 were significantly larger than that by the TNB (P < 0.001). The accumulated responses selected by the two‐trait animal model BLUP estimated from genetic parameters with errors were similar to those estimated from the true parameters, and there was no significant difference between them. These results indicate that selection by the NBA or by the NBA and the NBD gives more genetic improvement in the NBA than that by the TNB.     

Genetic characterization of a small closed island population of Norwegian coastal goat

ABSTRACT

The Norwegian coastal goat is a national and endangered breed. Coastal goat populations are mainly divided with a large mainland and two small island populations. The objective of this study is to describe genetic diversity in the feral Skorpa island population and its relationship to the mainland coastal goat population (Selje) using the Norwegian milk goat population as a reference. Analyses were based on 96 samples genotyped by the CaprineSNP50 Beadchip from three populations; 7 Skorpa (SK), 37 Selje (SE) and 52 Norwegian milk goats (MG). The SK population had significantly less genetic variation and higher levels of inbreeding than the two other populations. It was more distant from the two mainland populations than they were from each other. The marginal contribution of the SK population to genetic diversity was small. Means of introducing genetic diversity into the SK population should be considered if the population is prioritized for conservation.