کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3069975 1580705 2010 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Epigenetic changes and non-coding expanded repeats
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی عصب شناسی
پیش نمایش صفحه اول مقاله
Epigenetic changes and non-coding expanded repeats
چکیده انگلیسی

Many neurogenetic disorders are caused by unstable expansions of tandem repeats. Some of the causal mutations are located in non-protein-coding regions of genes. When pathologically expanded, these repeats can trigger focal epigenetic changes that repress the expression of the mutant allele. When the mutant gene is not repressed, the transcripts containing the expanded repeat can give rise to a toxic gain-of-function by the mutant RNA. These two mechanisms, heterochromatin-mediated gene repression and RNA dominance, produce a wide range of neurodevelopmental and neurodegenerative abnormalities. Here we review the mechanisms of gene dysregulation induced by non-coding repeat expansions, and early indications that some of these disorders may prove to be responsive to therapeutic intervention.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neurobiology of Disease - Volume 39, Issue 1, July 2010, Pages 21–27
نویسندگان
, ,