Genetic diversity is essential for the sustainability and adaptability of populations, and is thus a central pillar of the agro-ecological transition. However, within a population, it is inevitable that some amount of genetic variability is lost, and efforts must be made to limit this as much as possible. A valuable tool in this endeavour could be the use of cryopreserved genetic resources in cryobanks, which could assist in the management of various animal populations in the contexts of both selection and conservation. We performed simulations that revealed that the most appropriate use of ex situ genetic resources depends on characteristics of the target population and its management objectives. For populations under conservation, the aim is to maintain genetic diversity, which was best achieved by the regular use of cryopreserved genetic resources at each generation. For populations under selection, instead, the concern is the addition of additive genetic variability, which benefited from the use of cryopreserved collections over only a few generations based primarily on the genetic values of donors. The use of cryopreserved semen had a beneficial effect when breeding objectives were changed. In both cases, the use of cryopreserved individuals in animal populations requires a large amount of reproductive material: for breeds under selection because the number of offspring is high, and for breeds under conservation because the frozen semen is used repeatedly over a long period. The use of cryopreserved material appears to be an effective means of managing the genetic variability of an animal population, either by slowing down the erosion of variability or by helping to redirect a selection objective. However, care must be taken with populations under selection to limit the disadvantages associated with the reintroduction of old genetic material, in particular the gap in breeding values for traits of interest. Finally, our study highlights the need for a sufficiently large stock of cryopreserved material in collections (e.g., number of doses, straws) to ensure the most efficient use.
{"title":"Optimising the Use of Cryopreserved Genetic Resources for the Selection and Conservation of Animal Populations","authors":"Alicia Jacques, Michèle Tixier-Boichard, Gwendal Restoux","doi":"10.1111/jbg.70000","DOIUrl":"10.1111/jbg.70000","url":null,"abstract":"<p>Genetic diversity is essential for the sustainability and adaptability of populations, and is thus a central pillar of the agro-ecological transition. However, within a population, it is inevitable that some amount of genetic variability is lost, and efforts must be made to limit this as much as possible. A valuable tool in this endeavour could be the use of cryopreserved genetic resources in cryobanks, which could assist in the management of various animal populations in the contexts of both selection and conservation. We performed simulations that revealed that the most appropriate use of <i>ex situ</i> genetic resources depends on characteristics of the target population and its management objectives. For populations under conservation, the aim is to maintain genetic diversity, which was best achieved by the regular use of cryopreserved genetic resources at each generation. For populations under selection, instead, the concern is the addition of additive genetic variability, which benefited from the use of cryopreserved collections over only a few generations based primarily on the genetic values of donors. The use of cryopreserved semen had a beneficial effect when breeding objectives were changed. In both cases, the use of cryopreserved individuals in animal populations requires a large amount of reproductive material: for breeds under selection because the number of offspring is high, and for breeds under conservation because the frozen semen is used repeatedly over a long period. The use of cryopreserved material appears to be an effective means of managing the genetic variability of an animal population, either by slowing down the erosion of variability or by helping to redirect a selection objective. However, care must be taken with populations under selection to limit the disadvantages associated with the reintroduction of old genetic material, in particular the gap in breeding values for traits of interest. Finally, our study highlights the need for a sufficiently large stock of cryopreserved material in collections (e.g., number of doses, straws) to ensure the most efficient use.</p>","PeriodicalId":54885,"journal":{"name":"Journal of Animal Breeding and Genetics","volume":"143 1","pages":"50-67"},"PeriodicalIF":1.9,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jbg.70000","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144327703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Evelyn Jade, Mathew D. Littlejohn, Katie Eketone, Richard J. Spelman, Jessica Stapley, Anna W. Santure
Meiotic recombination is an essential process for shuffling genetic diversity in sexually reproducing organisms, can vary within and between individuals in response to intrinsic and extrinsic factors, and can be heritable. Interestingly, recombination rate has been found to vary with age in some species, but to date, there have been no assessments of the heritability and genetic architecture of this age effect. Here, we leverage a large pedigree of SNP chip-genotyped Aotearoa New Zealand Holstein-Friesian and Jersey dairy cattle to test for an effect of age on male recombination rate, the heritability of recombination rate and of any such age effect on recombination, and the genetic architecture underlying these two phenotypes. We found a significant, albeit small, increase in the average number of male autosomal recombinations with age. Consistent with previous studies, we found moderate heritability (h2 ≈ 0.15) of sire recombination rate and detected association with several regions on chromosome 10 encompassing genes such as REC8, REC114, RNF212B and NEK9. Further, we found novel evidence of some heritability (h2 ≈ 0.05) in the rate of change in recombination with age in sires. Variation in the rate of change with age is likely also polygenic, but there is a region on chromosome 1 that is weakly associated with the rate of change. It is unclear whether the heritability of age-related recombination rate change is widespread across species, and we encourage studies in other taxa to assess its prevalence and evolutionary significance.
{"title":"An Increase in Male Recombination Rate With Age in Dairy Cattle Is Heritable and Polygenic","authors":"Evelyn Jade, Mathew D. Littlejohn, Katie Eketone, Richard J. Spelman, Jessica Stapley, Anna W. Santure","doi":"10.1111/jbg.12948","DOIUrl":"10.1111/jbg.12948","url":null,"abstract":"<p>Meiotic recombination is an essential process for shuffling genetic diversity in sexually reproducing organisms, can vary within and between individuals in response to intrinsic and extrinsic factors, and can be heritable. Interestingly, recombination rate has been found to vary with age in some species, but to date, there have been no assessments of the heritability and genetic architecture of this age effect. Here, we leverage a large pedigree of SNP chip-genotyped Aotearoa New Zealand Holstein-Friesian and Jersey dairy cattle to test for an effect of age on male recombination rate, the heritability of recombination rate and of any such age effect on recombination, and the genetic architecture underlying these two phenotypes. We found a significant, albeit small, increase in the average number of male autosomal recombinations with age. Consistent with previous studies, we found moderate heritability (<i>h</i><sup>2</sup> ≈ 0.15) of sire recombination rate and detected association with several regions on chromosome 10 encompassing genes such as <i>REC8</i>, <i>REC114</i>, <i>RNF212B</i> and <i>NEK9</i>. Further, we found novel evidence of some heritability (<i>h</i><sup>2</sup> ≈ 0.05) in the rate of change in recombination with age in sires. Variation in the rate of change with age is likely also polygenic, but there is a region on chromosome 1 that is weakly associated with the rate of change. It is unclear whether the heritability of age-related recombination rate change is widespread across species, and we encourage studies in other taxa to assess its prevalence and evolutionary significance.</p>","PeriodicalId":54885,"journal":{"name":"Journal of Animal Breeding and Genetics","volume":"143 1","pages":"35-49"},"PeriodicalIF":1.9,"publicationDate":"2025-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jbg.12948","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144295388","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
<p>Genetic progress of breeding programs is highly dependent on the size of reference populations and the relatedness between reference populations and selection candidates. Many reasons can lead a population to split into several subpopulations (sanitary, physiological, political reasons, etc.). More specifically, alternative (e.g., organic) farming may lead to farms breaking away from the conventional scheme to form a distinct breeding scheme, especially in organic sheep farming where the ban on hormones makes the use of artificial insemination (AI) difficult. However, these potential splits of the population into several smaller subpopulations could decrease genetic progress. The aim of our study was to investigate, using stochastic simulations, the impact of separation of the population into two subpopulations while still applying the same breeding objective and methods. We simulated a breeding program inspired by a dairy program but applicable to different species. We simulated two different initial population sizes with 5400 (10,800) females mated to 90 (180) males and a trait of heritability 0.30. This population was under selection for several discrete generations (G-9 to G-1) as a single population. Then, for the last 11 cycles of selection, the population was either maintained as a unique population (scenario “NoSep”, which was the reference scenario) or split into two subpopulations with different ratios: 50/50, 60/40, 70/30, 80/20, and 90/10. We studied three scenarios in which the population was split: CE (separation and Common Evaluation), in which the evaluation remained common between both subpopulations; SE (separation and separate evaluation), in which the subpopulations were evaluated individually; and NoSel (Separation and No Selection), in which the breeding males were randomly selected, as opposed to the two previous scenarios in which we selected the males based on their GEBVs. We studied the evolution of differentiation of populations (<i>F</i><sub>st</sub>), accuracy of predictions, genetic progress, and rate of inbreeding over generations. We observed a faster genetic divergence in the case of an unbalanced split and separate evaluation (<i>F</i><sub>st</sub> in G11 equal to 0.134 for the ratio 90/10 scenario SE). The separate evaluation had a significant, negative effect on both the accuracy and genetic gain of the smallest population (minimal accuracy of 0.53 and maximal loss of 16.6% for ratio 90/10 with 5400 females), whereas the accuracy and genetic gain of the largest population were not impacted. Combining the evaluations led to smaller but still significant deterioration of the genetic gain of the smallest population when the ratio was very unbalanced (loss of genetic gain of 14.3% for a ratio of 90/10 with 5400 females). In conclusion, population separation has a negative impact on genetic gain, particularly for small populations. Although it does help in alleviating divergence and loss of genetic gain, joint ev
育种计划的遗传进展高度依赖于参考群体的大小以及参考群体与选择候选者之间的亲缘关系。许多原因可以导致一个种群分裂成几个亚种群(卫生、生理、政治等原因)。更具体地说,替代农业(例如有机农业)可能导致农场脱离传统方案,形成独特的育种方案,特别是在有机羊养殖中,激素的禁令使得人工授精(AI)的使用变得困难。然而,这些潜在的种群分裂成几个较小的亚种群可能会减少遗传进展。本研究的目的是利用随机模拟的方法,在保持相同的育种目标和方法的情况下,研究种群分离为两个亚种群的影响。我们模拟了一个受乳制品计划启发的育种计划,但适用于不同的物种。我们模拟了两种不同的初始种群规模,5400(10,800)只雌性交配,90(180)只雄性交配,遗传率为0.30。该种群作为一个单一种群被选择了几个离散代(G-9至G-1)。然后,在最后11个周期的选择中,种群要么保持为一个独特的种群(情景“NoSep”,即参考情景),要么分成两个不同比例的亚种群:50/50、60/40、70/30、80/20和90/10。我们研究了种群分裂的三种情况:CE(分离和共同评估),在这种情况下,两个亚种群之间的评估保持共同;SE (separation and separate evaluation),分别对亚种群进行评价;另一种是NoSel(分离和不选择),在这种情况下,繁殖雄性是随机选择的,而不是之前的两种情况,我们根据它们的gebv选择雄性。我们研究了种群分化(Fst)的进化、预测的准确性、遗传进展和近交率。我们观察到,在不平衡分裂和单独评估的情况下,遗传分化速度更快(对于比率为90/10的情景SE, G11中的Fst等于0.134)。单独评估对最小群体的准确性和遗传增益都有显著的负面影响(在比例为90/10、雌性为5400的情况下,最小准确性为0.53,最大损失为16.6%),而最大群体的准确性和遗传增益不受影响。综合这些评价,当比例非常不平衡时,最小种群的遗传增益下降幅度较小,但仍显着(在5400只雌性的90/10比例下,遗传增益损失14.3%)。总之,种群分离对遗传增益有负面影响,特别是对小种群。虽然联合评价有助于减轻遗传增益的差异和损失,但不能完全弥补种群的分裂。
{"title":"Study of Genetic Progress in the Context of Disconnection Between Two Originally Connected Populations","authors":"M. Wicki, A. Legarra, J. Raoul","doi":"10.1111/jbg.12946","DOIUrl":"10.1111/jbg.12946","url":null,"abstract":"<p>Genetic progress of breeding programs is highly dependent on the size of reference populations and the relatedness between reference populations and selection candidates. Many reasons can lead a population to split into several subpopulations (sanitary, physiological, political reasons, etc.). More specifically, alternative (e.g., organic) farming may lead to farms breaking away from the conventional scheme to form a distinct breeding scheme, especially in organic sheep farming where the ban on hormones makes the use of artificial insemination (AI) difficult. However, these potential splits of the population into several smaller subpopulations could decrease genetic progress. The aim of our study was to investigate, using stochastic simulations, the impact of separation of the population into two subpopulations while still applying the same breeding objective and methods. We simulated a breeding program inspired by a dairy program but applicable to different species. We simulated two different initial population sizes with 5400 (10,800) females mated to 90 (180) males and a trait of heritability 0.30. This population was under selection for several discrete generations (G-9 to G-1) as a single population. Then, for the last 11 cycles of selection, the population was either maintained as a unique population (scenario “NoSep”, which was the reference scenario) or split into two subpopulations with different ratios: 50/50, 60/40, 70/30, 80/20, and 90/10. We studied three scenarios in which the population was split: CE (separation and Common Evaluation), in which the evaluation remained common between both subpopulations; SE (separation and separate evaluation), in which the subpopulations were evaluated individually; and NoSel (Separation and No Selection), in which the breeding males were randomly selected, as opposed to the two previous scenarios in which we selected the males based on their GEBVs. We studied the evolution of differentiation of populations (<i>F</i><sub>st</sub>), accuracy of predictions, genetic progress, and rate of inbreeding over generations. We observed a faster genetic divergence in the case of an unbalanced split and separate evaluation (<i>F</i><sub>st</sub> in G11 equal to 0.134 for the ratio 90/10 scenario SE). The separate evaluation had a significant, negative effect on both the accuracy and genetic gain of the smallest population (minimal accuracy of 0.53 and maximal loss of 16.6% for ratio 90/10 with 5400 females), whereas the accuracy and genetic gain of the largest population were not impacted. Combining the evaluations led to smaller but still significant deterioration of the genetic gain of the smallest population when the ratio was very unbalanced (loss of genetic gain of 14.3% for a ratio of 90/10 with 5400 females). In conclusion, population separation has a negative impact on genetic gain, particularly for small populations. Although it does help in alleviating divergence and loss of genetic gain, joint ev","PeriodicalId":54885,"journal":{"name":"Journal of Animal Breeding and Genetics","volume":"143 1","pages":"24-34"},"PeriodicalIF":1.9,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jbg.12946","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144259350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Larissa Temp, Gabriel Gubiani, Ludmilla Brunes, Claudio Magnabosco, Fernando Bussiman, Jorge Hidalgo, Daniela Lourenco, Fernando Baldi
Missing pedigrees are a common problem in most populations. Animals with unknown ancestors are usually treated as founders; however, this can underestimate inbreeding, not properly account for different base populations, and bias breeding values. We aimed to assess the use of unknown parent groups (UPG) or metafounders (MF) to model missing pedigrees in a beef cattle population. Phenotypic and genotypic data from the Nellore improvement programme of the Brazilian Breeders and Researchers Association were used. The pedigree contained 3.8 M animals born between 1970 and 2022, of which 51,752 were genotyped. Records for scrotal circumference at 365 days old (SC365, N = 239,806), age at first calving (AFC, N = 560,785) and accumulated cow productivity (ACP, N = 269,330) were used. Four models were implemented: single-step GBLUP without explicitly dealing with missing pedigree (G0), with UPG (G1), with MF (G2) and with