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Epigenetics. 2014 May;9(5):658-68. doi: 10.4161/epi.28298. Epub 2014 Feb 21.

The H3K27me3 demethylase UTX in normal development and disease.

Author information

1
Center for Medical Genetics; Ghent University; Ghent, Belgium.

Abstract

In 2007, the Ubiquitously Transcribed Tetratricopeptide Repeat on chromosome X (UTX) was identified as a histone demethylase that specifically targets di- and tri-methyl groups on lysine 27 of histone H3 (H3K27me2/3). Since then, UTX has been proven essential during normal development, as it is critically required for correct reprogramming, embryonic development and tissue-specific differentiation. UTX is a member of the MLL2 H3K4 methyltransferase complex and its catalytic activity has been linked to regulation of HOX and RB transcriptional networks. In addition, an H3K27me2/3 demethylase independent function for UTX was uncovered in promoting general chromatin remodeling in concert with the BRG1-containing SWI/SNF remodeling complex. Constitutional inactivation of UTX causes a specific hereditary disorder called the Kabuki syndrome, whereas somatic loss of UTX has been reported in a variety of human cancers. Here, we compile the breakthrough discoveries made from the first disclosure of UTX as a histone demethylase till the identification of disease-related UTX mutations and specific UTX inhibitors.

KEYWORDS:

H3K27; HOX; Kabuki; MLL2; RB; SWI/SNF; UTX; cancer; embryogenesis; reprogramming

PMID:
24561908
PMCID:
PMC4063824
DOI:
10.4161/epi.28298
[Indexed for MEDLINE]
Free PMC Article

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