Distribution and association study in copy number variation of KCNJ12 gene across four Chinese cattle populations
Distribution and association study in copy number variation of KCNJ12 gene across four Chinese cattle populations
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KCNJ12基因拷贝数变异在中国四个牛群体中的分布及关联研究
DOI：
10.1016/j.gene.2018.12.019
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发表时间：
2019
期刊：
影响因子：
3.5
通讯作者：
Huang Yong Zhen
中科院分区：
文献类型：
--
作者：
Zheng Li;Xu Jia Wei;Li Ji Chao;Wang Da Hui;An Qing Ming;Xu Lin Na;Ma Yi Lei;Wang Jian;Peng Shu Jun;Lei Chu Zhao;Lan Xian Yong;Chen Hong;Huo Li Jun;Huang Yong Zhen
拷贝数变异是一种大的基因组变异，通常发生在非编码区，它可能发生在与功能基因相关的基因座上，从而进一步影响表型。钾内向整流通道(KCNJ12)基因在心肌细胞和神经元中广泛表达，在肿瘤治疗和肌肉运动调节中发挥重要作用。本研究对中国四个黄牛品种(NY、JX、JA和GF)的404个个体的KCNJ12基因的CNV进行了检测。我们还研究了KCNJ12基因在JX牛不同组织中的表达。此外，我们还研究了两个CNV区域(CNV1：1,600 bp，内含子1；CNV2：4,800 bp，基因间)与生长性状的关系。统计分析表明，JX牛CNV1与体长、臀长、体重相关(P<； )，与体长、胸围、体重相关显著(P<； )，对体长、体重影响显著(P<； )，对体长、胸围、臀长、体重影响显著(P<； ； )。KCNJ12基因的拷贝数与骨骼肌中基因的转录水平呈负相关(P<； )。结果表明，KCNJ12中的CNV1和CNV2与两个黄牛群体的生长性状相关，可作为标记辅助选择和育种管理的候选基因。
Copy number variation is a large genome variation which usually happens in the noncoding-region, and it may occur at the locus associated with the functional gene to further influence the phenotype. Potassium inwardly-rectifying channel, subfamily J 12 (KCNJ12) gene expressed widely in cardiomyocytes and neurons, plays an important role in tumor therapy and muscle movement regulation. In this study, we detected the distribution of CNVs forKCNJ12gene in 404 individuals belonging to four Chinese cattle breeds (NY, JX, JA and GF). We also investigated theKCNJ12gene expression in different tissues of JX cattle. Additionally, we examined the association of two CNV regions (CNV1: 1,600 bp, intron 1; CNV2: 4,800 bp, intergenic) with growth traits. The statistical analyses indicated that the CNV1 is associated with the body length, rump length and weight in JX cattle population (P< 0.05); and there has a significant association with the body length, chest circumference, and body weight in GF cattle (P< 0.05).The CNV2 had a significant effect on the body length and body weight in JX cattle (P< 0.05); the body length, chest circumference, rump length and body weight in GF cattle (P< 0.01 orP< 0.05). The copy numbers ofKCNJ12gene presented the negative correlations with the transcript level of gene in skeletal muscles (P< 0.05). Our results provide evidence that CNV1 and CNV 2 inKCNJ12are associated with growth traits in two cattle populations and may be used as candidates for marker-assisted selection and breeding management in cattle.