结构变异和短串重复会影响牛丸组织中的基因表达和拼接
Meenu Bhati1, Xena Marie Mapel1, Audald Lloret-Villas1
1Animal Genomics, ETH Zurich, Universitaetstrasse 2, 8092, Zurich, Switzerland.
Genetics
|September 1, 2023
概括
结构变异 (SV) 和短串重复 (STR) 显著影响牛的基因调节. 这些变异常常被基于SNP的方法忽视,影响基因表达和拼接,揭示了对遗传变异的新见解.
科学领域:
- 基因组学就是基因组学.
- 分子生物学分子生物学
- 牛的遗传学 牛的遗传学
背景情况:
- 结构变异 (SV) 和短串重复 (STR) 是遗传变异的关键来源.
- 它们对基因调节的影响,特别是在牛群中,仍未得到充分研究.
研究的目的:
- 在牛基因组中表征SV和STR.
- 通过丸转录组研究它们对基因表达和拼接的影响.
主要方法:
- 在 183 个牛基因组中对 19,408 种 SV 和 374,821 种 STR 进行基因定型.
- 对丸转录组进行分析,以确定表达和拼接定量特征位置 (e/sQTL).
- 评估与SNP/Indels的链接不平衡 (LD).
主要成果:
- SVs和STRs经常是多样性的,位于基因间/内基因区域.
- 与SNP/Indels相比,它们具有显著的e/sQTL丰富,影响多个基因.
- 删除,重复和内基STR显示出对拼接和表达的显著影响.
结论:
- 在牛群中,SVs和STRs对基因表达和拼接变异有很大贡献.
- 传统的SNP分析往往忽略了这些变异.
- 提供了 taurine 牛的 SV 和 STR 的目录,强调了它们的调节作用.
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