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Comment
. 2014 Jan;46(1):3-4.
doi: 10.1038/ng.2861.

Enhancer mutations and phenotype modularity

Christopher T Gordon  1 , Stanislas Lyonnet  1
Affiliations
Comment

Enhancer mutations and phenotype modularity

Christopher T Gordon et al. Nat Genet. 2014 Jan.

Abstract

Only a few mutations in regulatory elements that cause human disease have been identified thus far. A new report identifies cis-regulatory mutations that abolish the activity of a developmental enhancer, thereby causing pancreatic agenesis.

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Comment on

  • Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.
    Weedon MN, Cebola I, Patch AM, Flanagan SE, De Franco E, Caswell R, Rodríguez-Seguí SA, Shaw-Smith C, Cho CH, Allen HL, Houghton JA, Roth CL, Chen R, Hussain K, Marsh P, Vallier L, Murray A; International Pancreatic Agenesis Consortium; Ellard S, Ferrer J, Hattersley AT. Weedon MN, et al. Nat Genet. 2014 Jan;46(1):61-64. doi: 10.1038/ng.2826. Epub 2013 Nov 10. Nat Genet. 2014. PMID: 24212882 Free PMC article.

References

    1. Hum Mol Genet. 2008 Apr 1;17(7):978-85 - PubMed
    1. Nature. 2006 Nov 23;444(7118):499-502 - PubMed
    1. Nat Genet. 2014 Jan;46(1):61-64 - PubMed
    1. Nat Rev Genet. 2013 Apr;14(4):288-95 - PubMed
    1. Hum Mol Genet. 2012 Jul 15;21(14):3255-63 - PubMed

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