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Neurodevelopmental disorders

Signalling pathways of fragile X syndrome

Nature volume 492, pages 359–360 (2012)Cite this article

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The RNA-binding protein FMR1 has a key role in the neurodevelopmental disorder fragile X syndrome, but the RNAs targeted by the protein were mostly unknown. An analysis reveals thousands of possible targets. See Article p.382

Fragile X syndrome was the first genetic disorder found to link RNA regulation to human cognitive function. Of the forms of hereditary autism or autism spectrum disorder associated with a single gene, this is the most common. It results in a range of intellectual disabilities, from mild to severe, and causes sufferers to exhibit certain physical characteristics. The syndrome is caused by an increase in the number of repeats of a short nucleotide sequence located in the X-chromosome gene Fragile X mental retardation 1 (FMR1), which encodes the RNA-binding protein FMRP. On page 382 of this issue, Ascano et al.1 report the discovery of RNA sequences known as RNA-recognition elements that are targeted by the two independent RNA-binding regions of FMRP — a finding that increases our understanding of the molecular basis of fragile X syndromeFootnote 1. The authors also describe the binding sites in messenger RNAs targeted by the FMRP family of proteins, and their use of a mutant FMRP to further study the protein's role in translation2.

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Notes

  1. *This article and the paper under discussion1 were published online on 12 December 2012.

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Authors and Affiliations

  1. Sabarinath Jayaseelan and Scott A. Tenenbaum are at the College of Nanoscale Science and Engineering, Nanobioscience Constellation, University at Albany, State University of New York, Albany, New York 12203, USA.,

    Sabarinath Jayaseelan & Scott A. Tenenbaum

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  1. Sabarinath Jayaseelan
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  2. Scott A. Tenenbaum
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Correspondence to Sabarinath Jayaseelan or Scott A. Tenenbaum.

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Jayaseelan, S., Tenenbaum, S. Signalling pathways of fragile X syndrome. Nature 492, 359–360 (2012). https://doi.org/10.1038/nature11764

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