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Genetics

Fish heads and human disease

Nature volume 485, pages 318–319 (2012)Cite this article

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The expression level of a single gene can determine head size in zebrafish, mirroring a human anatomical feature associated with neurological disorders such as autism and schizophrenia. See Letter p.363

Neurodevelopmental and neuropsychiatric disorders can be caused by a multitude of genetic and environmental factors. The genetic abnormalities associated with disorders such as autism, schizophrenia and early-onset bipolar disorder1 include a class of mutations called copy-number variants (CNVs), which involve deletion or duplication of whole regions of the genome, typically spanning multiple genes. Among the CNVs most frequently observed in psychiatric disorders is a region of chromosome 16 that contains 29 genes2,3, called 16p11.2. However, we still have little understanding of the mechanism by which this CNV exerts its clinical effects, and, indeed, which gene or genes are responsible. On page 363 of this issue, Golzio and colleagues show4 that one of the 16p11.2 CNV genes, KCTD13, helps to regulate brain size in zebrafish. This finding provides a tantalizing potential link between KCTD13 and the abnormalities in brain growth and behaviour that are associated with the 16p11.2 CNV in humans.

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Figure 1: A gene for head size.

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Authors and Affiliations

  1. Dheeraj Malhotra and Jonathan Sebat are in the Departments of Psychiatry, and of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, California 92093, USA.,

    Dheeraj Malhotra & Jonathan Sebat

  2. Jonathan Sebat is also at the Institute for Genomic Medicine and the Beyster Center for Genomics of Psychiatric Diseases, University of California, San Diego.,

    Jonathan Sebat

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  1. Dheeraj Malhotra
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  2. Jonathan Sebat
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Correspondence to Jonathan Sebat.

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Malhotra, D., Sebat, J. Fish heads and human disease. Nature 485, 318–319 (2012). https://doi.org/10.1038/485318a

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