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预测影响拼接的GPAT4基因突变的功能分析

Sergey A Bursakov^1,2, Anastasia V Kovaleva¹, Artyom V Brigida¹

¹Institution of Innovative Biotechnology in Animal Husbandry - A Branch of the Federal Research Center for Animal Husbandry Named After Academy Member L.K. Ernst, Moscow, Russia.

Animal biotechnology

|October 31, 2023

概括

GPAT4基因的遗传变异导致乳牛的替代拼接,导致牛奶脂肪成分的改变,并可能影响育种计划. 这种SNP可以作为改善牛养殖的分子标记.

科学领域:

遗传学是一个遗传学.
分子生物学分子生物学
动物育种动物育种

背景情况:

在乳牛中,GPAT4基因对乳脂合成 (二甲基甘油和三甲基甘油) 至关重要.
在GPAT4中单核酸多态 (SNP) 是乳制品性能的潜在标记.
预计一种特定变异 (rs442541537) 会影响GPAT4基因拼接.

研究的目的:

为了研究GPAT4基因变异的功能后果,预计会影响拼接.
为了确定RS442541537SNP对mRNA处理和蛋白质功能的影响.
评估这种SNP作为乳牛养殖中的遗传标记物的潜力.

主要方法:

微基因拼接试验用于分析拼接变化.
使用野生类型和突变细胞系模型进行转染实验.
分析成熟的信使RNA (mRNA) 转录和蛋白质产品.

主要成果:

在GPAT4的第二个内子中的rs442541537 SNP诱导了替代拼接.
这种突变导致在成熟的mRNA中包含第二个外因子.
这种外因子的缺失导致由于过早停止代码的原因而导致截断的非功能性蛋白质.

结论:

在GPAT4基因中发现的SNP (rs442541537) 作为通过外子跳转进行替代拼接的分子标记.
这种遗传变异通过影响蛋白质功能来影响牛奶脂肪成分.
通过标记辅助选择,GPAT4 SNP为乳牛育种计划提供了潜在的经济效益.

关键词:

在GPAT4比赛中,另一个替代拼接方法是拼接.这里是牛群.牛奶养殖牛奶养殖牛奶养殖单个核酸的多态性.

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