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Autism

A long genetic explanation

Nature volume 501, pages 36–37 (2013)Cite this article

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Topoisomerase enzymes facilitate gene transcription by resolving DNA tangles. Malfunction of these enzymes seems to compromise the expression of very long genes, potentially mediating neurodevelopmental disorders. See Article p.58

Topoisomerases are a family of enzymes that catalyse the unwinding and unknotting of DNA sequences. By introducing transient 'nicks', these enzymes can relieve the topological pile-up of DNA that is caused by processes such as replication and transcription. On page 58 of this issue, King et al.1 provide evidence that topoisomerases are required for the proper expression of extremely long genes in neurons. This insight has implications for our understanding of the fundamentals of both transcription and neurodevelopmental disordersFootnote 1.

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Figure 1: Topoisomerase inhibitors and transcription.

Notes

  1. *This article and the paper under discussion1 were published online on 28 August 2013.

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Authors and Affiliations

  1. Robert N. Plasschaert and Marisa S. Bartolomei are in the Department of Cell and Developmental Biology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA.,

    Robert N. Plasschaert & Marisa S. Bartolomei

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  1. Robert N. Plasschaert
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  2. Marisa S. Bartolomei
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Correspondence to Marisa S. Bartolomei.

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Plasschaert, R., Bartolomei, M. A long genetic explanation. Nature 501, 36–37 (2013). https://doi.org/10.1038/nature12553

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