The H3K27me3 demethylase UTX in normal development and disease.

[kabuki syndrome]

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 H 3 (H 3 K 27 me 2 /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 MLL 2 H 3 K 4 methyltransferase complex and its catalytic activity has been linked to regulation of HOX and RB transcriptional networks . In addition , an H 3 K 27 me 2 /3 demethylase independent function for UTX was uncovered in promoting general chromatin remodeling in concert with the BRG 1 -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 .

Diseases
Validation

Diseases presenting "proven essential during normal development" symptom

kabuki syndrome

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