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Article

Polymorphic CGG repeats in gene regulation and disease.

American journal of human genetics - 4 Jun 2026

Zhao Yijing, Annear Dale, Allen Emily G, Kooy R Frank, Nelson David L, Jin Peng

Abstract excerpt

Polymorphic CGG repeats, present at thousands of loci across the human genome, represent a distinctive class of regulatory DNA elements with dual roles in gene regulation and disease. Once regarded primarily as pathogenic triggers, CGG repeats are now recognized as modulators of transcription, chromatin state, and RNA metabolism. When expanded beyond normal thresholds, these repeats can drive neurodevelopmental...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42173091
DOI: 10.1016/j.ajhg.2026.05.001
PMCID: PMC13277698

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RAN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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