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位于山羊基因内的一个17碱基对插入缺失(rs668420586)与生长相关,影响体尺性状。

A 17-bp InDel (rs668420586) within goat gene located in growth-related affecting body measurement traits.

作者信息

Li Haixia, Wang Xinyu, Chen Hong, Qu Lei, Lan Xianyong

机构信息

College of Animal Science and Technology, Northwest A&F University, Yangling, 712100 Shaanxi People's Republic of China.

Shaanxi Provincial Engineering and Technology Research Center of Cashmere Goats, Yulin University, Yulin, 719000 Shaanxi People's Republic of China.

出版信息

3 Biotech. 2020 Oct;10(10):441. doi: 10.1007/s13205-020-02434-8. Epub 2020 Sep 18.

Abstract

The Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 7 () gene was located in a growth-related major QTL that participated in the process of bone cells metabolism in animals by regulating mitochondrial copper homeostasis and cytochrome C oxidase assembly. Therefore, we speculated that CHCHD7 gene might be involved in animal growth and body size. Herein, we discovered a 17-bp insertion/deletion (indel) within the goat gene. Then, we detected this variation in Shaanbei White Cashmere (SBWC, = 1055) goats and Inner Mongolia White Cashmere (IMWC, = 743) goats (Alathai type) using the mathematical expectation (ME) method. We then analyzed the correlation between these genotypes and goat body measurement traits. The results showed that the minor allelic frequency (MAF) was 0.011 in SBWC, and 0.048 in IMWC. In SBWC and IMWC, the reaction time by ME method was reduced by 36.78% and 27.59%, respectively, compared to the traditional method of screening samples one by one. Moreover, in SBWC goats, the 17-bp indel was significantly associated with body measurement traits (e.g. body height, and body length) in adults. In IMWC goats, the 17-bp indel was correlated with body measurement traits (e.g. body height) in weaners. In SBWC and IMWC goat populations, the body measurement traits of the individuals homozygous for 17-bp indel were higher than those in heterozygous individuals, except for the case of cannon circumference in IMWC weaners. These findings showed that the 17-bp insertion mutation within the goat gene significantly affected body morphometric traits, and could provide a basis for marker-assisted selection (MAS) breeding of cashmere goats.

摘要

含卷曲螺旋-螺旋-卷曲螺旋-螺旋结构域7(CHCHD7)基因位于一个与生长相关的主效数量性状位点(QTL),通过调节线粒体铜稳态和细胞色素C氧化酶组装参与动物骨细胞代谢过程。因此,我们推测CHCHD7基因可能参与动物生长和体型调控。在此,我们在山羊CHCHD7基因内发现了一个17 bp的插入/缺失(indel)。然后,我们使用数学期望(ME)方法在陕北白绒山羊(SBWC,n = 1055)和内蒙古白绒山羊(IMWC,n = 743,阿拉善型)群体中检测了该变异。随后,我们分析了这些基因型与山羊体尺性状之间的相关性。结果表明,SBWC群体中该变异的次要等位基因频率(MAF)为0.011,IMWC群体中为0.048。在SBWC和IMWC群体中,与逐一筛选样本的传统方法相比,ME方法的反应时间分别减少了36.78%和27.59%。此外,在SBWC成年山羊中,17 bp indel与体尺性状(如体高、体长)显著相关。在IMWC断奶羔羊中,17 bp indel与体尺性状(如体高)相关。在SBWC和IMWC山羊群体中,除IMWC断奶羔羊的管围外,17 bp indel纯合个体的体尺性状高于杂合个体。这些结果表明,山羊CHCHD7基因内17 bp的插入突变显著影响体尺性状,可为绒山羊的标记辅助选择(MAS)育种提供依据。

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