在人类视网膜中进行的多omics分析揭示了罕见眼病的眼部部位的超保守的cis-regulatory元素
Victor Lopez Soriano1,2, Alfredo Dueñas Rey1,2, Rajarshi Mukherjee3
1Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Nature communications
|February 21, 2024
概括
超保存的非编码元素 (UCNEs) 在眼睛发育过程中调节基因表达. 这些UCNEs的基因组变异与罕见的眼病有关,提供了新的诊断目标.
科学领域:
- 基因组学就是基因组学.
- 发育生物学 发展生物学
- 眼科医生 眼科 眼科
背景情况:
- 超保守的非编码元素 (UCNEs) 是基因表达的关键 cis 调节者.
- 非编码变体越来越多地被认为是罕见疾病的原因.
- 视网膜发育依赖于精确的基因调节.
研究的目的:
- 确定UCNEs作为视网膜发育中的候选cis调节元件 (cCREs).
- 研究这些UCNEs中的基因组变异在罕见眼睛疾病中的作用.
主要方法:
- 跨物种基因组比较以确定UCNEs.
- 集散和单细胞视网膜多组数据的整合.
- 全基因组测序 (WGS) 分析一种罕见的眼病队列.
主要成果:
- 在UCNEs潜在的cis-regulatory控制下,发现了594个基因.
- 其中45个基因与罕见的眼病有关.
- 在84个UCNEs中,178种超罕见变异与29种疾病基因有关.
结论:
- 提供了UCNEs作为视网膜发育中的cCREs的全面注释.
- UCNEs是基础罕见眼病的非编码变异的重要目标.
- 这项研究强调了UCNEs作为罕见眼睛疾病的潜在诊断标志物.
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