CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations.

doi:10.1016/j.stemcr.2016.10.004

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CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations.

Stem cell reports - 13 Dec 2016

Brykczynska Urszula, Pecho-Vrieseling Eline, Thiemeyer Anke, Klein Jessica, Fruh Isabelle, Doll Thierry, Manneville Carole, Fuchs Sascha, Iazeolla Mariavittoria, Beibel Martin, Roma Guglielmo, Naumann Ulrike, Kelley Nicholas, Oakeley Edward J, Mueller Matthias, Gomez-Mancilla Baltazar, Bühler Marc, Tabolacci Elisabetta, Chiurazzi Pietro, Neri Giovanni, Bouwmeester Tewis, Di Giorgio Francesco Paolo, Fodor Barna D

Abstract excerpt

In fragile X syndrome (FXS), CGG repeat expansion greater than 200 triplets is believed to trigger FMR1 gene silencing and disease etiology. However, FXS siblings have been identified with more than 200 CGGs, termed unmethylated full mutation (UFM) carriers, without gene silencing and disease symptoms. Here, we show that hypomethylation of the FMR1 promoter is maintained in induced pluripotent stem cells (iPSCs)...

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Identifiers

PMID: 27840045
DOI: 10.1016/j.stemcr.2016.10.004
PMCID: PMC5161530

Genes

FMR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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