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Repeat DNA expands our understanding of autism spectrum disorder

A link has been found between repetitive stretches of DNA called tandem repeats and autism spectrum disorder. The discovery might inform approaches to studying tandem repeats in a wide range of other human disorders.
  1. Anthony J. Hannan

    1. Anthony J. Hannan is at the Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria 3052, Australia, and in the Department of Anatomy and Neuroscience, University of Melbourne.

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Approximately half of the human genome, known as the repeatome, consists of repetitive DNA sequences. The repeatome includes more than one million tandem repeats — sections of DNA in which a sequence is replicated many times in tandem — whose biology remains largely unexplored. More than 50 diseases are known to be caused by expansion of a tandem-repeat sequence in a single gene; among them are Huntington’s disease and fragile X syndrome1. But less-well understood is the role of tandem repeats in polygenic diseases, which have more-complex genetic underpinnings. Writing in Nature, Mitra et al.2 use a newly developed bioinformatics approach to identify tandem repeats associated with one such condition, autism spectrum disorder.

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Nature 589, 200-202 (2021)

doi: https://doi.org/10.1038/d41586-020-03658-7

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