Teodoro Miller, Maiorano Amanda Marchi, Campos Gabriel Soares, de Albuquerque Lúcia Galvão, de Oliveira Henrique Nunes
Department of Animal Science, São Paulo State University, Jaboticabal, Brazil.
Department of Animal Science, Federal University of Uberlandia, Uberlandia, Brazil.
J Anim Breed Genet. 2025 Mar;142(2):184-199. doi: 10.1111/jbg.12895. Epub 2024 Aug 27.
This study aimed to investigate functional variants in chromosome 14 (BTA14) and its impact in genomic selection for birth weight (BW), weaning weight (WW), and yearling weight (YW) in Nellore cattle. Genetic parameter estimation and the weighted single-step genomic best linear unbiased prediction (WssGBLUP) analyses were performed. Direct additive heritability estimates were high for WW and YW, and moderate for BW. Trait-associated variants distributed across multiple regions on BTA14 were observed in the weighted single-step genome-wide association studies (WssGWAS) results, implying a polygenic genetic architecture for weight in different ages. Several genes have been found in association with the weight traits, including the CUB And Sushi multiple domains 3 (CSMD3), thyroglobulin (TG), and diacylglycerol O-acyltransferase 1 (DGAT1) genes. The variance explained per SNP was higher in six functional classes of gene regulatory regions (5UTR, CpG islands, downstream, upstream, long non-coding RNA, and transcription factor binding sites (TFBS)), highlighting their importance for weight traits in Nellore cattle. A marginal increase in accuracy was observed when the selected functional variants (SV) information was considered in the WssGBLUP method, probably because of the small number of SV available on BTA14. The identified genes, pathways, and functions contribute to a better understanding of the genetic and physiological mechanisms regulating weight traits in the Nellore breed.
本研究旨在调查14号染色体（BTA14）中的功能变异及其对内洛尔牛出生体重（BW）、断奶体重（WW）和周岁体重（YW）基因组选择的影响。进行了遗传参数估计和加权单步基因组最佳线性无偏预测（WssGBLUP）分析。WW和YW的直接加性遗传力估计值较高，BW的估计值中等。在加权单步全基因组关联研究（WssGWAS）结果中，观察到分布在BTA14多个区域的性状相关变异，这意味着不同年龄体重的多基因遗传结构。已发现几个与体重性状相关的基因，包括CUB和寿司多结构域3（CSMD3）、甲状腺球蛋白（TG）和二酰基甘油O-酰基转移酶1（DGAT1）基因。在基因调控区域的六个功能类别（5UTR、CpG岛、下游、上游、长链非编码RNA和转录因子结合位点（TFBS））中，每个单核苷酸多态性（SNP）解释的方差更高，突出了它们对内洛尔牛体重性状的重要性。当在WssGBLUP方法中考虑所选功能变异（SV）信息时，准确性略有提高，这可能是因为BTA14上可用的SV数量较少。所鉴定的基因、途径和功能有助于更好地理解内洛尔品种中调节体重性状的遗传和生理机制。
