کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5533099 1550355 2017 13 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
ReviewR Loops and Links to Human Disease
ترجمه فارسی عنوان
نقاط نقد و بررسی و ارتباط با بیماری های انسانی
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیولوژی سلول
چکیده انگلیسی


- R-loop resolution defects are found to be associated with an increasing number of diseases.
- R-loop-dependent genomic instability appears to be a common denominator in many cancers and neurological disorders.
- R loops likely trigger chromatin state changes at certain disease-associated genes.

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.

Graphical Abstract114

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Molecular Biology - Volume 429, Issue 21, 27 October 2017, Pages 3168-3180
نویسندگان
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