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在分泌的粘膜MUC5AC和MUC5B中的结构和遗传多样性

Elizabeth G Plender¹, Timofey Prodanov², PingHsun Hsieh³

¹Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Basic Sciences Division and Computational Biology Program, Fred Hutchinson Cancer Center, Seattle, WA 98109, USA.

American journal of human genetics

|July 11, 2024

概括

分泌的粘膜MUC5AC和MUC5B表现出显著的结构多样性,特别是MUC5AC,与人类进化和特定种群的选择压力相关的变化. 这项研究为研究复杂变量数串重复 (VNTRs) 提供了一种新的策略.

科学领域:

基因组学就是基因组学.
分子生物学分子生物学
进化生物学进化生物学

背景情况:

分泌的粘膜MUC5AC和MUC5B是宿主防御的关键糖蛋白,参与病原体的捕获和粘膜清除.
他们的基因具有多态和退化的蛋白质编码变量数并列重复 (VNTRs),这对短读测序和分析构成了挑战.

研究的目的:

使用长读测序来描述MUC5AC和MUC5B的结构多样性.
为了研究这些粘素基因的进化模式和种群特异性变异.

主要方法:

206个人类和20个非人类灵长类动物 (NHP) 的长读序列和组装.
遗传学分析,链接不平衡,以及塔吉马的D测试来评估遗传变异和选择.
在2600个样本中,使用Locityper进行MUC5AC单元组的基因定型.

主要成果:

人类的MUC5B在很大程度上是不变的,已经确定了一些扩展的VNTR单元型.
MUC5AC表现出显著的等位基变异,其中30个等位基编码16种不同的蛋白质,分为三个分类 (H1,H2,H3).
人类MUC5AC变种通常比NHP模型小,这表明进化减少. 东亚人在H1上表现出过多的稀有变异和积极选择,而欧洲人则在H3上表现出平衡选择.

结论:

长读测序有效地表征了粘素基因中的复杂VNTRs.
MUC5AC的演变显示出特定群体的适应性,有证据表明东亚人具有积极选择性,欧洲人具有平衡选择性.
这些发现为未来涉及复杂VNTR位点的疾病关联研究提供了框架.

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