Departamento de Engenharia e Ciências Exatas, Universidade Estadual Paulista, Jaboticabal, São Paulo, Brazil.
Centre for Genetic Improvement of Livestock, Department of Animal Biosciences, University of Guelph, Guelph, Ontario, Canada.
PLoS One. 2023 Apr 10;18(4):e0284085. doi: 10.1371/journal.pone.0284085. eCollection 2023.
Studying structural variants that can control complex traits is relevant for dairy cattle production, especially for animals that are tolerant to breeding conditions in the tropics, such as the Dairy Gir cattle. This study identified and characterized high confidence copy number variation regions (CNVR) in the Gir breed genome. A total of 38 animals were whole-genome sequenced, and 566 individuals were genotyped with a high-density SNP panel, among which 36 animals had both sequencing and SNP genotyping data available. Two sets of high confidence CNVR were established: one based on common CNV identified in the studied population (CNVR_POP), and another with CNV identified in sires with both sequence and SNP genotyping data available (CNVR_ANI). We found 10 CNVR_POP and 45 CNVR_ANI, which covered 1.05 Mb and 4.4 Mb of the bovine genome, respectively. Merging these CNV sets for functional analysis resulted in 48 unique high confidence CNVR. The overlapping genes were previously related to embryonic mortality, environmental adaptation, evolutionary process, immune response, longevity, mammary gland, resistance to gastrointestinal parasites, and stimuli recognition, among others. Our results contribute to a better understanding of the Gir breed genome. Moreover, the CNV identified in this study can potentially affect genes related to complex traits, such as production, health, and reproduction.
研究能够控制复杂性状的结构变异对于奶牛生产具有重要意义,特别是对于那些能够耐受热带繁殖条件的动物,如德克塞尔牛。本研究在 Gir 品种基因组中鉴定和描述了高可信度的拷贝数变异区域(CNVR)。总共对 38 头动物进行了全基因组测序,对 566 个个体进行了高密度 SNP 面板的基因分型,其中 36 个个体既有测序数据又有 SNP 基因分型数据。建立了两套高可信度的 CNVR:一套基于研究人群中常见的 CNV(CNVR_POP),另一套基于具有测序和 SNP 基因分型数据的种公牛中的 CNV(CNVR_ANI)。我们发现了 10 个 CNVR_POP 和 45 个 CNVR_ANI,分别覆盖了牛基因组的 1.05 Mb 和 4.4 Mb。将这些 CNV 集合并进行功能分析,得到了 48 个独特的高可信度 CNVR。重叠基因与胚胎死亡率、环境适应、进化过程、免疫反应、长寿、乳腺、抗胃肠道寄生虫和刺激识别等有关。我们的研究结果有助于更好地了解 Gir 品种的基因组。此外,本研究中鉴定的 CNV 可能会影响与生产、健康和繁殖等复杂性状相关的基因。