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Article

The FMR1 promoter is selectively hydroxymethylated in primary neurons of fragile X syndrome patients.

Human molecular genetics - 15 Nov 2016

Esanov Rustam, Andrade Nadja S, Bennison Sarah, Wahlestedt Claes, Zeier Zane

Abstract excerpt

Fragile X syndrome (FXS) results from a repeat expansion mutation near the FMR1 gene promoter and is the most common form of heritable intellectual disability and autism. Full mutations larger than 200 CGG repeats trigger FMR1 heterochromatinization and loss of gene expression, which is primarily responsible for the pathological features of FXS . In contrast, smaller pre-mutations of 55–200 CGG are associated...

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Topics

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Share to 5-Methylcytosine
Share to DNA Methylation
Share to Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Syndrome

Share to Gene Silencing

Share to Neurons

Share to Promoter Regions, Genetic

Share to Trinucleotide Repeat Expansion

Source

Open in PubMed Open full text

Identifiers

PMID: 28173181
DOI: 10.1093/hmg/ddw311
PMCID: PMC6078593

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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The FMR1 promoter is selectively hydroxymethylated in primary neurons of fragile X syndrome patients.PMID 28173181Read ↗

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