Wang Xiaofei, Byers Shannon
Department of Biological Sciences, Tennessee State University, 3500 John A. Merritt Blvd., Nashville, TN 37209, USA.
Microarrays (Basel). 2014 Feb 5;3(1):24-38. doi: 10.3390/microarrays3010024.
DNA sequence variations include nucleotide substitution, deletion, insertion, translocation and inversion. Deletion or insertion of a large DNA segment in the genome, referred to as copy number variation (CNV), has caught the attention of many researchers recently. It is believed that CNVs contribute significantly to genome variability, and thus contribute to phenotypic variability. In chickens, genome-wide surveys with array comparative genome hybridization (aCGH), SNP chip detection or whole genome sequencing have revealed a large number of CNVs. A large portion of chicken CNVs involves protein coding or regulatory sequences. A few CNVs have been demonstrated to be the determinant factors for single gene traits, such as late-feathering, pea-comb and dermal hyperpigmentation. The phenotypic effects of the majority of chicken CNVs are to be delineated.
DNA序列变异包括核苷酸替换、缺失、插入、易位和倒位。基因组中大片段DNA的缺失或插入,称为拷贝数变异(CNV),最近引起了许多研究人员的关注。据信,CNV对基因组变异性有重大贡献,从而导致表型变异性。在鸡中,通过阵列比较基因组杂交(aCGH)、SNP芯片检测或全基因组测序进行的全基因组调查已经揭示了大量的CNV。鸡的CNV很大一部分涉及蛋白质编码或调控序列。一些CNV已被证明是单基因性状的决定性因素,如迟羽、豌豆冠和皮肤色素沉着。大多数鸡CNV的表型效应尚待阐明。