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Genetics

Up and down in Down's syndrome

Nature volume 508, pages 323–324 (2014)Cite this article

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A comparison of identical human twins, only one of whom has Down's syndrome, reveals a genome-wide flattening of gene-expression levels in the affected individual. See Article p.345

Down's syndrome occurs when humans have an extra copy of chromosome 21 (ref. 1), a situation referred to as trisomy 21. Because each chromosome contains a distinct set of genes that serve as blueprints for the expression of cellular components, it has been presumed for decades that the condition is mainly caused by an overabundance of the products of chromosome 21 genes. But on page 345 of this issue, Letourneau et al.2 report a case of Down's syndrome that is associated with altered gene expression across every chromosome, not just chromosome 21. This observation implies that the expression of any number of genes on any chromosome may contribute to Down's syndrome, and raises the possibility that an extra copy of any chromosome can disrupt general gene regulation.

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Figure 1: Flattened gene expression.

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Authors and Affiliations

  1. Benjamin D. Pope and David M. Gilbert are in the Department of Biological Science, Florida State University, Tallahassee, Florida 32306, USA.,

    Benjamin D. Pope & David M. Gilbert

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  1. Benjamin D. Pope
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  2. David M. Gilbert
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Correspondence to Benjamin D. Pope or David M. Gilbert.

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Pope, B., Gilbert, D. Up and down in Down's syndrome. Nature 508, 323–324 (2014). https://doi.org/10.1038/508323a

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