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在绵羊MC4R基因中,一种保存的功能误解SNP (E100K),导致功能损失并影响生长特征
Yuta Yang1, Peiyao Liu1, Taotao Yan1
1College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, 712100, China.
Journal of animal science
|January 26, 2026
概括
羊Melanocortin-4受体 (MC4R) 基因中的特定突变影响了生长. 具有AA基因型的羊表现出更好的生长,表明部分功能丧失影响了生长特征.
科学领域:
- 动物遗传学动物遗传学
- 分子生物学分子生物学
- 生理学 生理学 生理学
背景情况:
- 梅拉诺科丁-4受体 (MC4R) 对于调节羊的能量平衡和养行为至关重要.
- 了解MC4R的遗传变异可以提供关于绵羊生长调节的见解.
研究的目的:
- 在羊的MC4R基因中识别和表征一个功能单核酸多态 (SNP).
- 研究这种SNP与不同羊品种的生长特征的关联.
- 阐明已识别的MC4R突变对受体活性和下游途径的功能影响.
主要方法:
- 在2,151只绵羊中检测SNP的竞争性等位基因特定PCR (KASP).
- 在49个品种的968个个体的全基因组测序.
- 功能性测试用于评估蛋白质表达,定位和受体活性.
- 转录组分析以确定受影响的信号通路.
主要成果:
- 在羊的MC4R基因中发现了一种保存的功能性SNP (g.59480661G > A,E100K).
- E100K突变与Luxi黑头羊的生长特征有关,AA基因型显示出优异的表现.
- 突变导致MC4R表面表达减少,基底活性降低,激素结合受损,表明部分功能丧失.
- 受影响的下游途径包括骨质细胞分化和MAPK信号传递.
结论:
- MC4R E100K突变是影响绵羊生长的重要遗传因素.
- 这种部分功能丧失突变会影响调节生长的关键生理途径.
- 这些发现突出了MC4R遗传变异在畜牧养殖中的作用,以提高生长性能.
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