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Epigenetics

Mechanisms underlying fragile X syndrome

Nature Reviews Genetics volume 15, page 218 (2014)Cite this article

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Fragile X syndrome is caused by silencing of the fragile X mental retardation 1 gene (FMR1) and consequent loss of its associated protein product. Silencing of FMR1 was known to correlate with the presence of trinucleotide repeats adjacent to the FMR1 promoter. Colak et al. now demonstrate that FMR1 silencing is due to direct binding of the trinucleotide repeat region of FMR1 mRNA to the FMR1 promoter DNA. Formation of such DNA–mRNA duplexes may represent a general mechanism of epigenetic silencing in nucleotide repeat disorders.

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References

  1. Colak, D. et al. Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome. Science 343, 1002–1005 (2014)

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  1. Isabel Lokody
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Lokody, I. Mechanisms underlying fragile X syndrome. Nat Rev Genet 15, 218 (2014). https://doi.org/10.1038/nrg3714

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