期刊
JOURNAL OF MOLECULAR BIOLOGY
卷 429, 期 21, 页码 3168-3180出版社
ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
DOI: 10.1016/j.jmb.2016.08.031
关键词
R loops; genomic instability; chromatin reorganization; transcription; human diseases
资金
- Young Investigator Research Grant - National Ataxia Foundation
- NIH [R35 GM118136]
Aberrant R-loop structures are increasingly being realized as an important contributor to human disease. R loops, which are mainly co-transcriptional, abundant RNA/DNA hybrids, form naturally and can indeed be beneficial for transcription regulation at certain loci. However, their unwanted persistence elsewhere or in particular situations can lead to DNA double-strand breaks, chromosome rearrangements, and hypermutation, which are all sources of genomic instability. Mutations in genes involved in R-loop resolution or mutations leading to R-loop formation at specific genes affect the normal physiology of the cell. We discuss here the examples of diseases for which a link with R loops has been described, as well as how disease-causing mutations might participate in the development and/or progression of diseases that include repeat-associated conditions, other neurological disorders, and cancers. (C) 2016 Published by Elsevier Ltd.
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