Bias towards large genes in autism

Shahar Shohat and Sagiv Shifman ()
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Shahar Shohat: The Institute of Life Sciences, The Hebrew University of Jerusalem
Sagiv Shifman: The Institute of Life Sciences, The Hebrew University of Jerusalem

Nature, 2014, vol. 512, issue 7512, E1-E2

Abstract: Abstract Arising from I. F. King et al. Nature 501, 58–62 (2013); doi:10.1038/nature12504 In an important recent paper, King et al.1 reported that inhibition of TOP1 and other topoisomerases reduces the expression of extremely long genes. They also showed that the list of large genes affected by TOP1 inhibition is enriched with candidate genes for autism spectrum disorders (ASD); however, the list of candidate genes that was used contains many genes with limited evidence for association with ASD2. Here we demonstrate that the size of the genes among ASD candidate genes is biased towards extremely large genes only for genes identified to be disrupted by copy number variations (CNVs). Thus, our analysis suggests that the association between large genes and ASD is mainly driven by the method that implicated the genes in ASD. There is a Reply to this Brief Communication Arising by Zylka, M. J. et al. Nature 512, http://dx.doi.org/10.1038/nature13584 (2014).

Date: 2014
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DOI: 10.1038/nature13583

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