SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndrome

Expansion of the CGG.CCG-repeat tract in the 5' UTR of the FMR1 gene to >200 repeats leads to heterochromatinization of the promoter and gene silencing. This results in Fragile X syndrome (FXS), the most common heritable form of mental retardation. The mechanism of gene silencing is unknown....

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Veröffentlicht in:	PLoS genetics 2008-03, Vol.4 (3), p.e1000017-e1000017
Hauptverfasser:	Biacsi, Rea, Kumari, Daman, Usdin, Karen
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Azacitidine - analogs & derivatives Azacitidine - pharmacology Base Sequence Cell Line Decitabine Deoxyribonucleic acid DNA DNA Methylation DNA Primers - genetics Enzyme Inhibitors - pharmacology Enzymes Female Fragile X Mental Retardation Protein - genetics Fragile X Syndrome - enzymology Fragile X Syndrome - genetics Gene Silencing - drug effects Genetics Genetics and Genomics/Epigenetics Histones - metabolism Humans Hydroxamic Acids - pharmacology Models, Biological Molecular Biology/DNA Methylation Molecular Biology/Histone Modification Molecular Biology/Transcription Initiation and Activation Mutation Naphthalenes - pharmacology Neurological Disorders/Developmental and Pediatric Neurology Niacinamide - pharmacology Promoter Regions, Genetic - drug effects Proteins Pyrones - pharmacology Sirtuin 1 Sirtuins - antagonists & inhibitors Trinucleotide Repeat Expansion
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