Facile FMR1 mRNA structure regulation by interruptions in CGG repeats

Marek Napierala, Daniel Michalowski, Mateusz de Mezer, Wlodsimierz J. Krzyzosiak

Research output: Contribution to journalArticlepeer-review

66 Scopus citations


RNA metabolism is a major contributor to the pathogenesis of clinical disorders associated with premutation size alleles of the fragile X mental retardation (FMR1) gene. Herein, we determined the structural properties of numerous FMR1 transcripts harboring different numbers of both CGG repeats and AGG interruptions. The stability of hairpins formed by uninterrupted repeat-containing transcripts increased with the lengthening of the repeat tract. Even a single AGG interruption in the repeated sequence dramatically changed the folding of the 5′UTR fragments, typically resulting in branched hairpin structures. Transcripts containing different lengths of CGG repeats, but sharing a common AGG pattern, adopted similar types of secondary structures. We postulate that interruption-dependent structure variants of the FMR1 mRNA contribute to the phenotype diversity, observed in premutation carriers.

Original languageEnglish (US)
Pages (from-to)451-463
Number of pages13
JournalNucleic acids research
Issue number2
StatePublished - 2005
Externally publishedYes

ASJC Scopus subject areas

  • Genetics


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