| General information | Literature | Expression | Regulation | Mutation | Interaction |
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Basic Information |
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|---|---|
Gene ID | 7403 |
Name | KDM6A |
Synonymous | KABUK2|UTX|bA386N14.2;lysine (K)-specific demethylase 6A;KDM6A;lysine (K)-specific demethylase 6A |
Definition | bA386N14.2 (ubiquitously transcribed X chromosome tetratricopeptide repeat protein (UTX))|histone demethylase UTX|lysine-specific demethylase 6A|ubiquitously transcribed tetratricopeptide repeat protein X-linked|ubiquitously-transcribed TPR gene on the X |
Position | Xp11.2 |
Gene type | protein-coding |
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Title |
Abstract |
| The H3K27me3 demethylase UTX is a gender-specific tumor suppressor in T-cell acute lymphoblastic leukemia. | T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive form of leukemia that is mainly diagnosed in children and shows a skewed gender distribution toward males. In this study, we report somatic loss-of-function mutations in the X-linked histone H3K27me3 demethylase ubiquitously transcribed X (UTX) chromosome, in human T-ALL. Interestingly, UTX mutations were exclusively present in male T-ALL patients and allelic expression analysis revealed that UTX escapes X-inactivation in female T-ALL lymphoblasts and normal T cells. Notably, we demonstrate in vitro and in vivo that the H3K27me3 demethylase UTX functions as a bona fide tumor suppressor in T-ALL. Moreover, T-ALL driven by UTX inactivation exhibits collateral sensitivity to pharmacologic H3K27me3 inhibition. All together, our results show how a gender-specific and therapeutically relevant defect in balancing H3K27 methylation contributes to T-cell leukemogenesis. |