Reverter Antonio, Samaraweera Malshani, Alexandre Pâmela A, Duff Christian, Porto-Neto Laercio
CSIRO Agriculture and Food, Brisbane, QLD, Australia.
Angus Australia, Armidale, NSW, Australia.
J Anim Sci. 2025 Jan 4;103. doi: 10.1093/jas/skaf207.
Using molecular genotypes to check for Mendelian inconsistencies allows the identification of animals for which pedigree and genotype information disagree. A further use of molecular data is to understand and manage genetic diversity in a population. We sourced from the Angus Australia database a selected population of 11,224 animals, including 10,309 progeny born between 2013 and 2023 from 269 sires and 646 dams with at least 100 and 10 progeny, respectively. All animals had imputed genotypes for 61,105 autosomal markers. The additive and dominance genomic relationship (GR), as well as the number of opposing homozygotes (OH) were examined for pedigree-based relationship pairs including parent-offspring (PO; 21,307 pairs), full-sibs (FS; 35,486), half-sibs (HS; 677,421), grandparent-grandoffspring (16,308) and unrelated (62,232,954 pairs). Theoretical expectations for means and variances were compared against empirical observations. Consistent with expectations, the variance of additive GR among FS pairs was higher than the variance among HS, and the number of OH among FS was half the number of OH among HS. Expected to be 0.5, the observed additive GR among FS pairs and PO pairs was 0.483 (SD = 0.054) and 0.488 (SD = 0.037), respectively. The correlation (± SE) between additive and dominance GR was near unity for self-relationships (r = 0.935 ± 0.003) and zero for unrelated pairs (r = -0.001 ± 0.000). Expected to be zero, the number of OH among PO pairs averaged 11.6 and 77.5% of all PO pairs had an OH ≤ 12. Among FS pairs, the observed OH averaged 1,162.45 (expected = 1,150.17), and this average was surpassed by only 14 PO pairs, which was attributed to pedigree errors. Crucially, the anticipated negative correlation between additive GR and OH was affected by the degree of kindship being strongest negative among unrelated pairs (r = -0.762 ± 0.001). A principal components analysis and a network-based pipeline revealed the genetic diversity of the population with a focus on the role of the most influential parents. We conclude that, in our selected population of Australian Angus cattle, observed GRs were close to expectations, while Mendelian inconsistencies were very rare and likely attributed to either errors in pedigree recording, mislabeling of samples, or error in genotypes and genotype imputation. Finally, our study reveals the genetic diversity and breeding management decisions occurring in modern Australian Angus breeding programs.
利用分子基因型检查孟德尔不一致性,可以识别出系谱信息与基因型信息不符的动物。分子数据的另一个用途是了解和管理群体中的遗传多样性。我们从澳大利亚安格斯数据库中选取了11224只动物,其中包括2013年至2023年间出生的10309只后代,它们分别来自269头种公牛和646头母牛,种公牛至少有100头后代,母牛至少有10头后代。所有动物都有61105个常染色体标记的推算基因型。我们检查了基于系谱的关系对的加性和显性基因组关系(GR),以及对立纯合子(OH)的数量,这些关系对包括亲子对(PO;21307对)、全同胞对(FS;35486对)、半同胞对(HS;677421对)、祖孙对(16308对)和无亲缘关系对(62232954对)。将均值和方差的理论预期与实证观察结果进行了比较。与预期一致,FS对之间的加性GR方差高于HS对之间的方差,FS对中的OH数量是HS对中OH数量的一半。FS对和PO对之间观察到的加性GR预期为0.5,分别为0.483(标准差=0.054)和0.488(标准差=0.037)。加性和显性GR之间的相关性(±标准误)对于自交关系接近1(r=0.935±0.003),对于无亲缘关系对为0(r=-0.001±0.000)。预期为0,PO对中的OH数量平均为11.6,77.5%的PO对的OH≤12。在FS对中观察到的OH平均为1162.45(预期=1150.17),只有14个PO对超过了这个平均值,这归因于系谱错误。至关重要的是,加性GR和OH之间预期的负相关受到亲缘关系程度的影响,在无亲缘关系对中负相关最强(r=-0.762±0.001)。主成分分析和基于网络的流程揭示了群体的遗传多样性,重点关注最有影响力的亲本的作用。我们得出结论,在我们选定的澳大利亚安格斯牛群体中,观察到的GR接近预期,而孟德尔不一致性非常罕见,可能归因于系谱记录错误、样本标记错误或基因型及基因型推算错误。最后,我们的研究揭示了现代澳大利亚安格斯育种计划中的遗传多样性和育种管理决策。