Kumar Harshit, Panigrahi Manjit, Saravanan K A, Rajawat Divya, Parida Subhashree, Bhushan Bharat, Gaur G K, Dutt Triveni, Mishra B P, Singh R K
Division of Animal Genetics, Indian Veterinary Research Institute, Bareilly, India.
Division of Pharmacology & Toxicology, ICAR-Indian Veterinary Research Institute, Bareilly, India.
Anim Biotechnol. 2023 Apr;34(2):448-455. doi: 10.1080/10495398.2021.1942027. Epub 2021 Jun 30.
Copy number variations (CNVs) are major forms of genetic variation with an increasing importance in animal genomics. This study used the Illumina BovineSNP 50 K BeadChip to detect the genome-wide CNVs in the Tharparkar cattle. With the aid of software, we noticed a total of 447 copy number variation regions (CNVRs) across the autosomal genome, occupying nearly 2.17% of the bovine genome. The average size of detected CNVRs was found to be 122.2 kb, the smallest CNVR being 50.02 kb in size, to the largest being 1,232.87 Kb. Enrichment analyses of the genes in these CNVRs gave significant associations with molecular adaptation-related Gene Ontology (GO) terms. Most CNVR genes were significantly enriched for specific biological functions; signaling pathways, sensory responses to stimuli, and various cellular processes. In addition, QTL analysis of CNVRs described them to be linked with economically essential traits in cattle. The findings here provide crucial information for constructing a more comprehensive CNVR map for the indigenous cattle genome.
拷贝数变异（CNV）是遗传变异的主要形式，在动物基因组学中的重要性日益增加。本研究使用Illumina BovineSNP 50 K芯片检测塔尔帕卡牛全基因组范围内的CNV。借助软件，我们在常染色体基因组中总共发现了447个拷贝数变异区域（CNVR），占牛基因组的近2.17%。检测到的CNVR的平均大小为122.2 kb，最小的CNVR大小为50.02 kb，最大的为1232.87 Kb。对这些CNVR中的基因进行富集分析，发现与分子适应相关的基因本体（GO）术语存在显著关联。大多数CNVR基因在特定生物学功能上显著富集；信号通路、对刺激的感觉反应以及各种细胞过程。此外，对CNVR的QTL分析表明它们与牛的经济重要性状相关。这里的研究结果为构建更全面的本土牛基因组CNVR图谱提供了关键信息。
