山羊<em>PPP3CA</em>基因拷贝数变异及其与生长性状的关联分析

doi:10.3969/j.issn.1674-7968.2024.05.008

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摘要蛋白磷酸酶3催化亚基α (protein phosphatase 3 catalytic subunit alpha, PPP3CA)在动物生长发育过程中发挥着重要作用。本研究旨在探究PPP3CA基因在山羊(Capra hircus)不同组织中的表达、拷贝数变异及其对不同品种山羊生长性状的遗传效应。收集11只陕北白绒山羊的心、肝、脾、肺、肾、肌肉、大脑、卵巢、输卵管和睾丸组织,检测PPP3CA基因在不同组织中mRNA的表达水平。在306只陕北白绒山羊和110只贵州黑马羊群体中,利用qPCR技术,检测不同品种山羊PPP3CA基因存在的拷贝数变异(copy number variation, CNV),采用单因素方差分析PPP3CA基因CNV位点与山羊生长性状之间的关联性,并利用生物信息学对CNV位点进行连锁不平衡分析及转录因子预测。结果表明,PPP3CA基因mRNA在肺中表达量最高,脾、输卵管、睾丸、心、肝、肾、肌肉和大脑等组织中表达次之。PPP3CA基因中共检测到3个CNV位点。在陕北白绒山羊群体中CNV1和CNV2位点与山羊的胸围性状显著相关(P<0.05);CNV3位点与胸宽、胸深和胸围性状均显著相关(P<0.05)。在贵州黑马羊群体中,CNVI、CNV2和CNV3位点与山羊生长性状均无显著相关性。PPP3CA基因的CNV位点间不存在连锁不平衡(linkage disequilibrium, LD)单倍型区块,但可能存在SPT23、SIP4和YOX1转录因子的结合位点。综上所述,在陕北白绒山羊群体中,PPP3CA基因的CNV1、CNV2和CNV3位点可以作为分子标记用于山羊的生长性状选育。

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	白洋洋
	杜书增
	李信
	朱海鲸
	屈雷
	郭振刚
	杨青
	蓝贤勇

关键词 ：山羊, 蛋白磷酸酶3催化亚基&alpha, (PPP3CA), 生长性状, 拷贝数变异

Abstract：Protein phosphatase 3 catalytic subunit alpha (PPP3CA) plays an important role in animal growth and development. This study aims to explore PPP3CA gene expression in different tissues and the genetic effects of copy number variation on the growth traits of different breeds of goats (Capra hircus). First, a total of 11 Shaanbei white cashmere goats were chosen to identify the expression levels of PPP3CA mRNA in the heart, liver, spleen, lung, kidney, muscle, brain, ovary, testis tissues. Then, copy number variation (CNV) of PPP3CA gene was detected in 306 Shaanbei white cashmere goats and 110 Guizhou Heima goats by qPCR. The associations between PPP3CA gene CNV loci and growth traits in goats were analyzed using ANOVA. In addition, the linkage disequilibrium block in these regions and the potential transcription factors that could bind to the 3 CNVs were analyzed by using bioinformatics. The results showed that PPP3CA mRNA was highly expressed in the lung, followed by the spleen, fallopian tube, testis, heart, liver, kidney, muscle and brain. Three CNVs were detected in PPP3CA gene. In the Shaanbei white cashmere goats population, CNV1 and CNV2 significantly correlated with goat chest circumference (P<0.05); CNV3 was significantly correlated with goat chest width, chest depth and chest circumference (P<0.05). In the Guizhou Heima goat population, there was no significant relationship between 3 CNVs and goat growth traits. The linkage disequilibrium (LD) haplotype block analysis showed that there was no LD block for PPP3CA gene, but these CNVs might bind to SPT23, SIP4, and YOX1 transcription factors. In summary, these findings indicated that the CNV1, CNV2, and CNV3 loci of the PPP3CA gene could be used as molecular markers for the selection of growth traits in Shaanbei white cashmere goats.

Key words： Goat Protein phosphatase 3 catalytic subunit alpha (PPP3CA) Growth traits Copy number variation

收稿日期: 2023-07-07

中图分类号： S827.9,4

基金资助:十四五国家重点研发计划(2022YFF1000100)

通讯作者: *yangqing199506@163.com;lan342@126.com

引用本文:

白洋洋, 杜书增, 李信, 朱海鲸, 屈雷, 郭振刚, 杨青, 蓝贤勇. 山羊PPP3CA基因拷贝数变异及其与生长性状的关联分析[J]. 农业生物技术学报, 2024, 32(5): 1071-1080.
BAI Yang-Yang, DU Shu-Zeng, LI Xin, ZHU Hai-Jing, QU Lei, GUO Zhen-Gang, YANG Qing, LAN Xian-Yong. Analysis of Copy Number Variation of PPP3CA Gene and Its Association with Growth Traits in Goats (Capra hircus). 农业生物技术学报, 2024, 32(5): 1071-1080.

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https://journal05.magtech.org.cn/Jwk_ny/CN/10.3969/j.issn.1674-7968.2024.05.008 或 https://journal05.magtech.org.cn/Jwk_ny/CN/Y2024/V32/I5/1071

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