Bovine Functional Genomics Laboratory, USDA-ARS, ANRI, Beltsville, MD 20705, USA.
Funct Integr Genomics. 2012 Nov;12(4):609-24. doi: 10.1007/s10142-012-0289-9. Epub 2012 Jul 13.
Copy number variations (CNVs) are gains and losses of genomic sequence greater than 50 bp between two individuals of a species. While single nucleotide polymorphisms (SNPs) are more frequent, CNVs impact a higher percentage of genomic sequence and have potentially greater effects, including the changing of gene structure and dosage, altering gene regulation and exposing recessive alleles. In particular, segmental duplications (SDs) were shown to be one of the catalysts and hotspots for CNV formation. Substantial progress has been made in understanding CNVs in mammals, especially in humans and rodents. CNVs have been shown to be important in both normal phenotypic variability and disease susceptibility. Recently, interest in CNV study has extended into domesticated animals, including cattle. Multiple genome-wide cattle CNV studies have been carried out using both microarray and next generation sequencing technologies. Integration of SD and CNV results with SNP and other datasets are beginning to reveal impacts of CNVs on cattle domestication, health, and production traits.
拷贝数变异 (CNVs) 是指在一个物种的两个个体之间，基因组序列的增益和损失大于 50 个碱基对。虽然单核苷酸多态性 (SNPs) 更为常见，但 CNVs 影响的基因组序列比例更高，潜在影响也更大，包括基因结构和剂量的改变、基因调控的改变和隐性等位基因的暴露。特别是，片段重复 (SDs) 被证明是 CNV 形成的催化剂和热点之一。在理解哺乳动物中的 CNVs 方面，特别是在人类和啮齿动物中，已经取得了实质性的进展。CNVs 被证明在正常表型变异性和疾病易感性方面都很重要。最近，对 CNV 研究的兴趣已经扩展到了包括牛在内的家养动物。已经使用微阵列和下一代测序技术对多种全基因组牛 CNV 进行了研究。将 SD 和 CNV 的结果与 SNP 和其他数据集进行整合，开始揭示 CNVs 对牛的驯化、健康和生产性状的影响。
