INCENP基因功能性单倍型可调控启动子活性并影响公牛精液品质

doi:10.16288/j.yczz.15-230

遗传 ›› 2016, Vol. 38 ›› Issue (1): 62-71.doi: 10.16288/j.yczz.15-230

INCENP基因功能性单倍型可调控启动子活性并影响公牛精液品质

刘娟^{1, 2}, 孙艳², 姜强², 杨春红², 黄金明², 李建斌², 侯明海², 仲跻峰², 王长法², 刘保申¹

1. 山东农业大学农学院,泰安 271000;
2. 山东省农业科学院奶牛研究中心,济南 250131

收稿日期:2015-05-26 修回日期:2015-09-08 出版日期:2016-01-20 发布日期:2016-01-20
通讯作者: 王长法,博士,研究员,研究方向：动物遗传育种与繁殖。E-mail: wangcf1967@163.com E-mail:liujuanid@163.com
作者简介:刘娟,硕士,专业方向：动物遗传与生物技术。
基金资助:
国家自然科学基金项目(编号：31401049, 31401050),山东省农业良种工程种质创新应用项目(编号：2014LZ),现代农业产业技术体系奶牛岗位科学家项目(编号：CARS-37)和山东省农业产业技术体系牛产业创新团队项目(编号：SDAIT-12-011-02)资助

Functional haplotypes of INCENP affect promoter activity and bovine semen quality

Juan Liu^{1, 2}, Yan Sun², Qiang Jiang², Chunhong Yang², Jinming Huang², Jianbin Li², Minghai Hou², Jifeng Zhong², Changfa Wang², Baoshen Liu¹

1. College of Agronomic Sciences in Shandong Agricultural University, Taian 271000, China;
2. Dairy Cattle Research Center, Shandong Academy of Agricultural Science, Jinan 250131, China

Received:2015-05-26 Revised:2015-09-08 Online:2016-01-20 Published:2016-01-20
Supported by:
[Supported by the National Natural Science Foundation of China (No; 31401049, 31401050),the Well-Bred Program of Shandong Province (No; 2014LZ), the Program of National Cow Industrial Technology System (No; CARS-37), and Bovine Innovation team of Shandong Province Agricultural Technology System (No; SDAIT-12-011-02)]

摘要/Abstract

摘要： 为研究内着丝粒蛋白(Inner centromere protein, INCENP)基因启动子区单核苷酸多态性(SNPs)与精液品质的相关性,本文利用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测了250头中国荷斯坦公牛INCENP基因的基因型。在INCENP基因启动子区鉴定出两个SNPs (g.-556 G>T,rs 136823901和g.-692 C>T,rs 211010999),发现了3种单倍型(CG、TT、TG)。分析两个SNP位点的基因型频率和等位基因频率,各SNP及单倍型组合与中国荷斯坦公牛精液品质的相关性,结果表明SNP位点g.-556 G>T GT基因型个体的鲜精活力显著高于GG基因型个体(P<0.05),单倍型组合H1H1(CCGG)、H1H3(CTGT)、H2H3(TTGT)和H3H3(TTTT)个体的鲜精活力和冻精解冻后活力均显著高于H1H2个体(P<0.05)。为进一步研究g.-556 G>T和g.-692 C>T影响精液品质的可能机理,本文将3种单倍型质粒分别转染小鼠睾丸间质细胞(MLTC-1),结果显示含TG单倍型的载体荧光素酶活性最高。由此推测,g.-556 G>T和g.-692 C>T为启动子区功能性突变位点,可通过调节启动子活性来调控INCENP基因表达,进而影响精液品质。

关键词: INCENP, SNP, 单倍型, 启动子区, 精液品质, 基因表达

Abstract: To explore the association between single nucleotide polymorphisms (SNPs) in the promoter region of the inner centromere protein (INCENP) gene and bovine semen quality, the haplotypes in 250 Chinese Holstein bulls were detected using PCR-RFLP method in this study. Two SNPs (g.-556 G>T, rs 136823901 and g.-692 C>T, rs 211010999) and three haplotypes (CG, TT, TG) were identified in the promoter region of INCENP. The genotype frequency and allele frequency of these two SNPs as well as the correlation between different SNP haplotype combinations and bovine semen quality were then analyzed. Our results showed that fresh sperm motility of the GT genotype was significantly higher than that of the GG genotype (P<0.05) at the SNP site g.-556 G>T, while fresh and frozen-thawed sperm motilities of the haplotype combinations H1H1(CCGG), H1H3(CTGT), H2H3(TTGT) and H3H3(TTTT) were significantly higher than that of H1H2 (P<0.05). To further study the possible mechanisms by which g.-556 G>T and g.-692 C>T affect semen quality, three haplotype plasmids were respectively transfected into MLTC-1 cells. The TG haplotype demonstrated the highest luciferase activity, suggesting that g.-556 G>T and g.-692 C>T are functional mutations which could regulate INCENP gene expression by affecting promoter activity and thus affect semen quality.

Key words: INCENP, SNP, haplotype, promoter region, semen quality, gene expression

刘娟, 孙艳, 姜强, 杨春红, 黄金明, 李建斌, 侯明海, 仲跻峰, 王长法, 刘保申. INCENP基因功能性单倍型可调控启动子活性并影响公牛精液品质[J]. 遗传, 2016, 38(1): 62-71.

Juan Liu, Yan Sun, Qiang Jiang, Chunhong Yang, Jinming Huang, Jianbin Li, Minghai Hou, Jifeng Zhong, Changfa Wang, Baoshen Liu. Functional haplotypes of INCENP affect promoter activity and bovine semen quality[J]. HEREDITAS(Beijing), 2016, 38(1): 62-71.

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INCENP基因功能性单倍型可调控启动子活性并影响公牛精液品质

Functional haplotypes of INCENP affect promoter activity and bovine semen quality

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