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一种新的基于家族的方法来检测等位基特异性表达和绘制可能的eQTL

Maher Alnajjar¹, Zsófia Fekete², Tibor Nagy^1,3

¹Department of Genetics and Genomics, Institute of Genetics and Biotechnology, Hungarian University of Agriculture and Life Sciences, Szent-Györgyi A. u. 4, H-2100 Gödöllő, Hungary.

Animals : an open access journal from MDPI

|September 27, 2025

概括

本研究介绍了一种基于家族的方法,使用RNA-seq和全基因组测序来检测等位基因特异性表达 (ASE) 和调控元素. 该方法有效地识别了ASE基因和血统中潜在的cis-regulatory元素.

科学领域:

基因组学就是基因组学.
分子生物学分子生物学
量化遗传学量化遗传学

背景情况:

基因特异性表达 (ASE) 揭示了影响基因调节的功能遗传变异.
传统的ASE检测方法面临的局限性是由于依赖异合体变异或大种群规模.

研究的目的:

开发和验证一个基于家庭的策略来检测ASE和cis-regulatory元素.
为了利用RNA-seq和全基因组测序 (WGS) 数据从血统进行ASE分析.

主要方法:

利用一个子家庭 (2 个父母,8 个后代) 与RNA-seq和WGS数据.
分析了基因表达遗传模式和RNA读数,以确定ASE基因.
综合基因型数据以精确确定具有监管潜力 (eQTL) 的转录因子结合位点 (TFBS).

主要成果:

通过对家族成员的表达水平 (高,中,低) 进行分类,确定了913个ASE基因.
检测到ASE甚至在基因缺少异合异构变异的基因中.
发现了保留的TFBS变体,其遗传模式表明了调节作用 (eQTL).
父母之间的基因表达差异分析确定了肉类生产特征的候选基因.

结论:

使用RNA-seq和WGS的基于家族的策略是探索ASE的强大方法.
这种方法有助于绘制潜在表达量的特征位点 (eQTL).
该研究提供了有关经济重要特征的基因调节的见解.

关键词:

一个等位基因的特定表达.这些是cis-regulatory元素.肉类肉类肉类肉类这是一只子.转录因子的结合点是转录因子的结合点.

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