期刊
PLOS GENETICS
卷 16, 期 10, 页码 -出版社
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pgen.1009087
关键词
-
资金
- College of Science and Engineering, University of Edinburgh
- Wellcome Centre grant [091580/Z/10/Z]
- Wellcome Investigator Award [107930/Z/15/Z]
- Rett Syndrome Research Trust
- European Research Council [EC 694295 Gen-Epix]
- Wellcome Trust 4-y PhD studentship
- Wellcome Trust [091580/Z/10/Z, 107930/Z/15/Z] Funding Source: Wellcome Trust
Rett Syndrome (RTT) is a devastating neurological disorder affecting approximately 1 in 10,000 female births. Most cases of RTT are caused by mutations in the gene identified as methyl-CG binding protein 2 (MECP2) which is an epigenetic reader of DNA methylation. Although the primary function of MeCP2 is to recruit NCoR to methylated sites in the genome, the downstream effect on gene expression is subtle and multiple additional functions have been proposed. Here we focus on the influence of MeCP2 on one of these: alternative splicing to generate different messenger RNAs from a single primary transcript. Using machine learning approaches, we show that neither MeCP2 nor DNA methylation influence alternative splicing. Our results emphasize the importance of multi-variate quantitative analyses and they challenge the over-interpretation of causal relationships based on high-throughput data sets.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据