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.     

Indicators of genetic erosion in an endangered population: the Alentejana cattle breed in Portugal

A study was conducted to characterize genetic diversity in the Alentejana breed of cattle based on its demographic trends and to investigate the major factors affecting genetic erosion in this breed. Herdbook information collected between 1940 and 2004, including pedigree records on 100,562 animals in 155 herds, was used to estimate demographic parameters. The mean generation intervals were 6.0 +/- 2.4 yr and 6.8 +/- 3.2 yr for sires and dams of calves, respectively. Average inbreeding increased steadily over the period analyzed, with an annual rate of inbreeding of 0.33 +/- 0.004% (P < 0.01) and an effective population size of 23.3. In the reference population (28,531 calves born between 2000 and 2003) the average inbreeding was 8.35 +/- 9.02% and nearly 80% of the calves were inbred, whereas the average relationship among all animals was 0.026 +/- 0.040. Nevertheless, the mean relationship was 0.328 +/- 0.264 and 0.022 +/- 0.026 for animals born in the same and in different herds, respectively. The computed genetic contributions to the reference population resulted in estimates for the effective number of founders, ancestors, founding herds, and herds supplying sires of 121.6, 55.0, 17.1, and 26.9, respectively, the 2 most influential herds and ancestors contributing 24.2 and 15.1%, respectively, of the current genetic pool. Of the 671 founding sires, only 24 Y-chromosomes are currently represented, but 1 sire alone contributes nearly 60% of this representation, such that the effective number of Y-chromosomes is only 2.73. The observed inbreeding per herd was, on average, 0.053 +/- 0.071 lower than expected from the relationship among the generation of parents of calves in the reference population, indicating that producers have followed breeding strategies that have kept inbreeding at lower levels than anticipated with random selection and mating. When compared with other cattle breeds, Alentejana has some of the highest levels of mean inbreeding and annual rate of inbreeding, and an effective population size that is nearly half of the minimum recommended for maintenance of genetic variability. These critical indicators demonstrate the need to adopt strategies aimed at minimizing inbreeding to avoid further losses of genetic diversity.     

The assessment of genetic diversity within and among the eight subpopulations of Japanese Black cattle using 52 microsatellite markers

Japanese Black cattle are at risk for genetic homogeneity due to intensive use of a few sires. Therefore, assessment of the actual genetic diversity of this breed is important for future breeding plans. In the present study, we investigated the genetic diversity within and among eight subpopulations of Japanese Black cattle using 52 microsatellite markers. The parameters for genetic diversity of Japanese Black cattle were comparable to those of other cattle breeds, suggesting that the relatively high genetic diversity of the breed. However, upon comparison among the eight subpopulations, the Hyogo subpopulation showed markedly low genetic diversity. The results of the pairwise F_ST values, phylogenetic network and structure analysis indicated that the Hyogo population has remarkably high level of genetic differentiation from other populations, while Yamagata, Niigata, Hiroshima and Kagawa populations have low levels of genetic differentiation. Furthermore, multidimensional scaling plots indicated that individuals in some subpopulations were separated from individuals in the other subpopulations. We conclude that while the overall genetic diversity of Japanese Black cattle is still maintained at a relatively high level, that of a particular subpopulation is significantly reduced, and therefore the effective population size of the breed needs to be controlled by correct mating strategies.     

Population structure of Reyna Creole cattle in Nicaragua

Reyna Creole cattle originated from Bos taurus cattle brought to Latin America during the Spanish colonization in the fifteenth century and are the only remaining local breed in Nicaragua. However, the current genetic status of this breed is unknown. Therefore, the population structure of three recorded Reyna Creole herds in Nicaragua was studied to estimate their level of inbreeding, effective population size, and generation intervals. Data from 2,609 animals born between 1958 and 2007 were analyzed. A pedigree completeness index higher than 0.8 was required to obtain reliable estimates of the level of inbreeding, and this criterion was met for 367 animals (14%) in two herds. The average level of inbreeding was 13.0%, with values ranging from 0% to 43.8% for individual animals. One of the herds had an average inbreeding level of 21.6%, primarily due to long periods in which the same bulls were used for mating, leading to excessive frequencies of matings between closely related animals. The effective population size differed between years and ranged from 28 to 46 animals, showing that the Reyna Creole cattle breed is endangered, close to critical status. The average generation interval was 6.9 years with values as high as 19.1 years for some sires that were used for artificial insemination over a long period of time. Due to the high level of inbreeding and small population size, urgent actions are required for the development of a breeding program to protect the breed and support its sustainable utilization.     

Effect of sire mating patterns on future genetic merit and inbreeding in a closed beef cattle population

Summary Alternative breeding strategies were simulated based on the population structure of the Tajima strain of Japanese Black cattle. An analysis of the population structure revealed that some sires up to 20 years of age have been used in Tajima. In addition, 95% of newborn calves were the progeny of only 20 sires, and their mating frequencies were significantly skewed. The current average inbreeding coefficient and founder genome equivalents of the strain were estimated to be 0.199 and 2.25, respectively. Average inbreeding coefficient is expected to reach 0.394 within 27 years. Thus, different breeding strategies were assessed for their effect on the level of inbreeding and average genetic merit. We compared strategies that (1) halve the sire service period, (2) double the number of mating sires and (3) lower the skewed sire mating frequency and optimize the frequency for weighted genetic merit and diversity. Reducing the service period yielded a 7.0–12.0% reduction in the rate of inbreeding while maintaining almost the same genetic gain. Increasing the number of sires resulted in a 19.3–21.3% reduction in inbreeding with a corresponding 1.6–8.4% reduction in gain. The rates of inbreeding from the optimized strategies decreased as the weight on genetic diversity increased. However, a strategy that emphasized only genetic gain yielded lower gain than other strategies because the strategy allowed only one sire to mate, resulting in reduced genetic variance and low accuracy of genetic evaluation. In contrast, a strategy with no emphasis on genetic gain when determining mating frequency resulted in reductions of 16.0% and 63.2% in genetic gain and inbreeding, respectively. The strategies examined here are easily applicable and can be expected to reduce immediate loss of genetic diversity.     

Approaches to the management of inbreeding and relationship in the German Holstein dairy cattle population

The aim of this study was to estimate the current level of inbreeding in the German cow population and for bull dams born in Germany, to find out sires most related to different subsets of their breed and to demonstrate the negative effect of homozygosity in the case of complex vertebral malformation (CVM). Further on, the application of optimum genetic contribution (OGC) theory for the selection of bull dams and bull sires in different breeding scenarios was investigated. Levels of inbreeding for the cow population were in a low range from 0.97% to 1.70% evaluating birth years from 1996 to 1999 in a total dataset of 244,427 registered Holstein cows. The inbreeding coefficient of 8030 bull dams was much higher, i.e. 3.71%, for the birth year 1999. Increases in inbreeding of 0.19% per year indicated an effective population size of only 52 animals. Individual sires like R.O.R.A. Elevation and Hannoverhill Starbuck were highly related to potential bull dams with coefficients of relationship of 13.4% and 12.9%, respectively, whereas P.F. Arlinda Chief (16.3%) and Carlin-M Ivanhoe Bell (16.1%) were highest related to the best available AI sires. Coefficients of relationship were calculated by classes of estimated breeding values (EBV) for production traits showing highest values above 7% in the two highest EBV-classes. The optimum genetic contribution theory using official EBVs and approximative, for zero inbreeding corrected EBVs, was applied for elite matings in a breeding program embracing 30 young bulls per year to find the optimal allocations of bull sires and bull dams. Compared with the actual breeding program applied in practice, OGC-theory has the potential to increase genetic gain under the same constraint for the increase of average relationship by 13.1%. A more relaxed constraint on increase in inbreeding allowed even higher expected genetic gain whereas a more severe constraint resulted in more equal contributions of selected bull sires. Contributions from 21 selected bull sires and 30 selected bull dams for a scenario at 5% constrained relationship were used to develop a specific mating plan to minimise inbreeding in the short term in the following generation applying a simulated annealing algorithm. The expected coefficient of inbreeding of progeny was 66.3% less then the one resulting from random mating. Mating programs can address inbreeding concerns on the farm, at least in the short term, but long-term control of inbreeding in a dairy population requires consideration of relationships between young bulls entering AI progeny test programs. Significantly better EBVs of CVM-free bulls compared with CVM-carriers for the paternal fertility justify the application of OGC for elite matings.     

Prediction of inbreeding in commercial females maintained by rotational mating with partially isolated sire lines

The solution to the inbreeding problem for livestock breeds in commercial use is often complicated by hierarchical population structure, in which favourable genes are accumulated in the upper level of the hierarchy (breeding population) by artificial selection and the genetic progress achieved is transferred to the lower level through migration of males. When the breeding population is subdivided into several isolated lines, rotational mating with the lines has been shown to be quite an effective system to reduce the short‐ and long‐term inbreeding of commercial females in the lower level. In practice, however, some amount of migration should be allowed among the lines to reduce the rate of inbreeding in each line. In this study, we developed the recurrence equation for the inbreeding coefficient of the commercial females maintained by the rotational mating with partially isolated lines. Numerical computations were carried out to evaluate the effect of the migration on the efficiency of the rotational mating. It was shown that even with a small amount of migration among the lines, the inbreeding of commercial females is substantially inflated. However, when four or five lines are available, the inbreeding coefficient of commercial females can be suppressed to an acceptable level, irrespective of the effective size of line and the migration rate. Application of the mating system to the population of Japanese Black cattle was also examined.     

Inbreeding trend and inbreeding depression in the Danish populations of Texel, Shropshire, and Oxford Down

The objective of this study was to analyze the development of inbreeding and estimate inbreeding depression in the Danish populations of 3 major meat type sheep breeds. The pedigrees contained 29,336 Texel, 22,838 Shropshire, and 11,487 Oxford Down. The rate of inbreeding was approximately 1% per generation for all breeds, but the rate of increase in co-ancestry was somewhat lower (0.45 to 0.71), indicating that more inbreeding has been accumulating than would be expected if mating was at random. Inbreeding depression for birth weight, ADG from birth until 2 mo, and litter size was estimated for all 3 breeds using a minimum of 15,000 records per trait and breed. All traits showed depression due to inbreeding of the animal itself. For most combinations of trait and breed, there was also a significant reduction of the phenotype due to inbreeding in the dam. The size of inbreeding depression was 1.2 to 2.6% of the mean, resulting in an increase in the inbreeding coefficient of the individual of 0.10, and estimates were similar for similar increases in maternal inbreeding. The rate of inbreeding in these breeds needs to be reduced in the future to avoid a further decline in birth weight, ADG, and litter size.     

Investigation of genetic diversity and inbreeding in a Japanese native horse breed for suggestions on its conservation

Because native breeds can serve as genetic resources for adapting to environment changes, their conservation is important for future agroecosystems. Using pedigree analysis, we investigated genetic diversity and inbreeding in Japanese Hokkaido native horses, which have adapted to a cold climate and roughage diet. Genetic diversity was measured as the number of founders and the effective number of founders, ancestors and genomes. All metrics imply a decrease in genetic diversity. A comparison of these metrics suggested that pedigree bottlenecks contributed more than did random gene losses to the reduction of genetic diversity. Estimates of marginal contributions of ancestors suggest that the bottlenecks arose mainly because related stallions had been used for breeding. A tendency for an increase in inbreeding coefficients was observed. F‐statistics revealed that a small effective population size majorly contributed to this increase, although non‐random mating in particular regions also contributed. Because the bottlenecks are thought to have reduced the effective population size, our results imply that mitigation of bottlenecks is important for conservation. To this end, breeding should involve genetically diverse stallions. In addition, to prevent non‐random mating observed in particular regions, efforts should be made to plan mating with consideration of kinships.     

Analyses of genetic diversity in five Canadian dairy breeds using pedigree data

The issue of loss of animal genetic diversity, worldwide in general and in Canada in particular, has become noteworthy. The objective of this study was to analyze the trend in within‐breed genetic diversity and identify the major causes of loss of genetic diversity in five Canadian dairy breeds. Pedigrees were analyzed using the software EVA (evolutionary algorithm) and CFC (contribution, inbreeding, coancestry), and a FORTRAN package for pedigree analysis suited for large populations (PEDIG). The average rate of inbreeding in the last generation analyzed (2003 to 2007) was 0.93, 1.07, 1.26, 1.09 and 0.80% for Ayrshire, Brown Swiss, Canadienne, Guernsey and Milking Shorthorn, respectively, and the corresponding estimated effective population sizes were 54, 47, 40, 46 and 66, respectively. Based on coancestry coefficients, the estimated effective population sizes in the last generation were 62, 76, 43, 61 and 76, respectively. The estimated percentage of genetic diversity lost within each breed over the last four decades was 6, 7, 11, 8 and 5%, respectively. The relative proportion of genetic diversity lost due to random genetic drift in the five breeds ranged between 59.3% and 89.7%. The results indicate that each breed has lost genetic diversity over time and that the loss is gaining momentum due to increasing rates of inbreeding and reduced effective population sizes. Therefore, strategies to decrease rate of inbreeding and increase the effective population size are advised.     

Developments in prediction theories of the effective size of populations under selection

The effective population size is a key parameter in the definition of selection programs, because the magnitude of this parameter determines both the rate of inbreeding and the amount of genetic drift in the population. Prediction of the effective size of selected populations is complicated by the fact that selection has a cumulative effect on the effective size. In the present article, two basic approaches to predict the effective size of populations under selection were summarized, and the interrelation among them was clarified. Several extensions to practical situations relevant to animal breeding, such as non‐random mating, index selection and marker‐assisted selection, were also reviewed.     

Pedigree analysis of the Hungarian Thoroughbred population

The aim of the study was to analyse the pedigree information of Thoroughbred horses which were participating in gallop races between 1998 and 2010 in Hungary. Among the 3043 individuals of the reference population there were imported animals from foreign countries (e.g. Germany, England or Ireland) and horses that were born in Hungary. The number of complete generations was 15.64 (varied between 0 for the founders and 25.20), the mean number of full generations was 6.69, and the mean maximum generations were 28.96. The number of founders was 1062, and the effective number of founders was 42. Two hundred and thirty-two founders were born before 1793 (when the stud book of the Thoroughbred breed was closed), therefore these founders are considered as true founders of the breed. These 232 founders were responsible for 88.58% of the gene pool in the reference genome. The significant difference between the number of founders and effective number of founders indicate that the genetic diversity decreased greatly from the founders to the reference population. The number of ancestors was 908 and only 6 of them were responsible for 50% of the genetic diversity in the examined population. The effective number of ancestors was 15.32. From the ratio of the effective number of founders and effective number of ancestors we concluded to a bottleneck effect that characterizes the pedigree under study. Generation interval was more than a year longer for stallions (12.17) than it was for mares (10.64). More than 94% of the individuals in the pedigree were inbred, and the average inbreeding of the population was 9.58%. Considering the changes of the inbreeding status of the examined population 4 large time periods were appointed. The first lasted until 1780, the second period was from 1780 until 1952, the third period was between 1946 and 1998 and the last one was from 1998 until 2008. Rate of inbreeding in the last generation was 0.3%, which forecasts further increase in inbreeding. The effective population size was above 100 in the last 30 generations, proving the genetic diversity did not decrease by a level that would make long-term selection impossible.     

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。     

基于表型和基因组信息评价北京油鸡保种群保种情况

旨在利用表型和基因组信息对北京油鸡随机交配保种群体近交系数、有效群体大小进行研究,评价北京油鸡保种群体保种情况。本研究以国家级北京油鸡保种场北京油鸡2019年随机交配保种群体40只鸡为研究对象,对表型记录进行整理,同时利用基因组SNP信息,使用PLINK软件分别计算基于ROH的近交系数（F_ROH）、基于纯合基因型的近交系数（F_HOM）、基于联合配子之间相关性的近交系数（F_UNI）;使用GCTA和R软件计算基于基因组关系G矩阵的近交系数（F_GRM）;使用SNeP软件估计北京油鸡历史世代的有效群体大小;使用NeEstimator软件估计基于连锁不平衡方法的当前世代的有效群体大小;使用R软件的PerformanceAnalytics包对F_ROH、F_HOM、F_GRM和F_UNI等不同算法所得近交系数进行相关性分析,评价北京油鸡的保种情况。结果显示,1979—2019年以来,北京油鸡保种群体凤冠、胫羽、五趾等典型的外貌特征明显且百分比稳定;保种群有效群体大小从98世代前的595逐渐降至13世代前的176;2019年北京油鸡随机交配保种群体F_ROH为0.079 8,与F_GRM显著相关（P<0.01）,且相关系数为0.45;除此之外,F_HOM与F_GRM,F_HOM与F_UNI以及F_GRM与F_UNI之间也存在较高的线性相关。北京油鸡1979—2019年以来近交系数增长缓慢,国家级北京油鸡保种场随机交配保种群体的保种工作是十分有效的。基于目前情况,本研究建议每年随机选取一定数量的北京油鸡随机交配保种群体的个体,进行全基因组二代重测序检测,有利于对保种状况进行动态监控,以便随时调整保种工作方案。     

Genetic diversity and genomic inbreeding in Japanese Black cows in the islands of Okinawa Prefecture evaluated using single-nucleotide polymorphism array

Maintaining genetic diversity and inbreeding control are important in Japanese Black cattle production, especially in remote areas such as the islands of Okinawa Prefecture. Using a single-nucleotide polymorphism (SNP) array, we evaluated the genetic diversity and genomic inbreeding in Japanese Black cows from the islands of Okinawa Prefecture and compared them to those from other locations across Japan. Linkage disequilibrium decay was slower in cows in the islands of Okinawa Prefecture. The estimated effective population size declined over time in both populations. The genomic inbreeding coefficient (F_ROH) was estimated using long stretches of consecutive homozygous SNPs (runs of homozygosity; ROH). F_ROH was higher in the cows on the islands of Okinawa Prefecture than on other locations. In total, 818 ROH fragments, including those containing NCAPG and PLAG1, which are major quantitative trait loci for carcass weight in Japanese Black cattle, were present at significantly higher frequencies in cows in the islands of Okinawa Prefecture. This suggests that the ROH fragments are under strong selection and that cows in the islands of Okinawa Prefecture have low genetic diversity and high genomic inbreeding relative to those at other locations. SNP arrays are useful tools for evaluating genetic diversity and genomic inbreeding in cattle.     

Application of highly differentiated SNPs between Japanese Black and Holstein to a breed assignment test between Japanese Black and F1 (Japanese Black x Holstein) and Holstein

Two taurine breeds, Japanese Black and Holstein, established from geographically distant origins and selected for different uses, beef and dairy, were extensively genotyped using a genome‐wide single nucleotide polymorphism (SNP) chip with more than 1000 animals of each breed. The genetic structure was examined by principal component analysis, in which the first principal component clearly separated the two breeds and explained more than 15% of the variance. Highly differentiated SNPs were detected throughout the genome, some of which were clustered within small regions on BTA4 (79.2–79.7 Mb, Btau4.0) and BTA26 (22.2–23.6 Mb). A breed assignment test was developed using 18 highly differentiated SNPs to distinguish Japanese Black from F₁ (Japanese Black × Holstein) and Holstein. The error rate that an F₁ or Holstein animal is misjudged as Japanese Black was expected to be < 0.8%, while the error rate that a Japanese Black animal is misjudged as F₁ or Holstein was expected to be < 0.001%. This test provides a reliable and powerful method to detect breed label falsification in retail beef.     

Monitoring of genetic diversity in the endangered Martina Franca donkey population

The Martina Franca (MF) donkey, an ancient native breed of Apulia, was mostly famous for mule production. The breed was at serious risk of extinction in the 1980s following the decrease in demand for draft animals because they were increasingly replaced by agricultural machinery. Much has been done in the last few decades to safeguard the existing donkey breeds, but the situation remains critical. Successful implementation of conservation measures includes an evaluation of the present degree of breed endangerment, so the aim of this work was to analyze the demographic and genetic parameters of this breed to suggest effective conservation strategies. With a current breed register counting less than 500 recorded animals, the pedigree data set included 1,658 MF donkeys born between 1929 and 2006. Analyses were carried out on the whole data set as well as on a smaller one consisting of 422 living animals. Demographic and genetic variability parameters were evaluated using the ENDOG (v4.6) software. The pedigree completeness level was evaluated as well as the generation length, which was calculated for each of the 4 gametic pathways. This information was obtained from animal birth date records together with those of their fathers and mothers. The effective number of founders (f(e)), the effective number of ancestors (f(a)), the founder genome (f(g)), individual inbreeding (F), average relatedness (AR), and the rate of inbreeding per generation were analyzed to describe the genetic variability of the population. Because pedigree depth and completeness were appropriate, especially regarding the current population, the parameters defining genetic variability, namely, f(e), f(a), f(g), F, and AR, could be reliably estimated. Analysis of these parameters highlighted the endangerment status of the MF donkey. Our special concern was with the increased percentage of males and females exhibiting increased AR values. Moreover, the effective size of the current population, 48.08, is slightly less than the range of the minimum effective size, and the rates of inbreeding per generation found in the current MF population exceed the maximum recommended level of 1%. Such a scenario heightens concerns over the endangered status of the MF breed and calls for proper conservation measures and breeding strategies, such as selecting individuals for mating when relationships are below 12.5%.     

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.     

Limits to genetic rescue by outcross in pedigree dogs

Outcrossing should reduce inbreeding levels and associated negative effects in highly inbred populations. In this study, we investigated the effectiveness of different outcrossing schemes using computer simulations. The inbreeding rate estimated for a 25‐year period of 2.1% per generation in a highly inbred dog breed reduced to 1.8% when a single litter was produced by an outcross without backcrosses. To reduce the inbreeding rate below 1%, more than eight of the 14 litters born yearly in the recipient breed had to be outcrossed. However, outcrossing in pedigree dogs is usually followed by backcrossing and generally involves one or a few litters. Backcrossing reduced the effect of outcrossing considerably. When two litters were produced by an outcross followed by one generation of backcross, the inbreeding rate was 2.0% per generation. Continuously outcrossing was more effective than a single or a few outcrosses. When each newborn litter during 25 years had a 5% chance of being produced by an outcross, the inbreeding rate reduced to ?0.2%. To investigate the possibility that new alleles were introduced from the donor population into the recipient population, the fate of different type of alleles (varying from completely lethal to beneficial) before and after an outcross was investigated by first simulating 80 years of natural selection prior to the outcross and then different types of outcross. Because natural selection reduced the frequency of lethal alleles before outcrossing, the introduction of a lethal allele that was segregating in the donor breed but not in the recipient breed occurred rarely. Introduction of slightly detrimental alleles or neutral alleles occurred more frequently. In conclusion, outcrossing only had a limited short‐term effect unless repeated continuously. Nevertheless, it may help to buy time in which the population structure can be changed so that the effective population size increases.     

Population structure and genetic variability in the Murrah dairy breed of water buffalo in Brazil accessed via pedigree analysis

The objective of this study was to use pedigree analysis to evaluate the population structure and genetic variability in the Murrah dairy breed of water buffalo (Bubalus bubalis) in Brazil. Pedigree analysis was performed on 5,061 animals born between 1972 and 2002. The effective number of founders (fe) was 60, representing 6.32?% of the potential number of founders. The effective number of ancestors (fa) was 36 and the genetic contribution of the 17 most influent ancestors explained 50?% of the genetic variability in the population. The ratio fe/fa (effective number of founders/effective number of ancestors), which expresses the effect of population bottlenecks, was 1.66. Completeness level for the whole pedigree was 76.8, 49.2, 27.7, and 12.8?% for, respectively, the first, second, third, and fourth known parental generations. The average inbreeding values for the whole analyzed pedigree and for inbreed animals were, respectively, 1.28 and 7.64?%. The average relatedness coefficient between individuals of the population was estimated to be 2.05?%??the highest individual coefficient was 10.31?%. The actual inbreeding and average relatedness coefficient are probably higher than estimated due to low levels of pedigree completeness. Moreover, the inbreeding coefficient increased with the addition of each generation to the pedigree, indicating that incomplete pedigrees tend to underestimate the level of inbreeding. Introduction of new sires with the lowest possible average relatedness coefficient and the use of appropriate mating strategies are recommended to keep inbreeding at acceptable levels and increase the genetic variability in this economically important species, which has relatively low numbers compared to other commercial cattle breeds. The inclusion of additional parameters, such as effective number of founders, effective number of ancestors, and fe/fa ratio, provides better resolution as compared to the inclusion of inbreeding coefficient and may help breeders and farmers adopt better precautionary measures against inbreeding depression and other deleterious genetic effects.