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Mutation in KDM6A gene is associated with cancer more frequently in males.
Pathogenic variants in KMT2D resulting in protein truncation in 43% (6/14; of which 3 are novel) of all cases were detected, while analysis of KDM6A was negative. MLPA analysis was negative in all instances.
Kdm6a and Kdm6b were found to be significantly overexpressed in Malignant pleural mesothelioma (MPM) at the mRNA level. However, tests examining if targeting therapeutically Kdm6a/b using a specific small molecule inhibitor was potentially useful for treating MPM, revealed that members of the Kdm6 family may not be suitable candidates for therapy
The results define UTX as a bivalency-resolving histone modifier necessary for stem cell differentiation
UTX gene expression in renal cell carcinoma (show MOK Proteins) and bladder cancer.
Mutations of the epigenetic genes KMT2D and KDM6A cause dysregulation of certain developmental genes and account for the multiple congenital anomalies of the syndrome
UTX positively regulates E-cadherin (show CDH1 Proteins) expression in colon cancer cells.
UTX is a prominent tumour suppressor that functions as a negative regulator of EMT (show ITK Proteins)-induced Cancer Stem Cell-like properties by epigenetically repressing epithelial-mesenchymal transition -TFs.
Kabuki syndrome may be caused by mutations in one of two histone methyltransferase genes: KMT2D and KDM6A.
Our results provide further support for the similar roles of KMT2D and KDM6A in the etiology of KS by using a vertebrate model organism to provide direct evidence of their roles in the development of organs and tissues affected in KS patients.
UTX-MLL4-p300 (show NOTCH1 Proteins) transcriptional regulatory network establishing an "active enhancer landscape" and defines a detailed mechanism for the joint deposition of H3K4me1 and H3K27ac.
These results suggest that the demethylase (show MBD2 Proteins) activity of Jmjd3, but not that of Utx, affects mouse axial patterning in concert with alterations in Hox (show MSH2 Proteins) gene expression.
Utx governs adipogenesis by regulating c-Myc (show MYC Proteins) in a differentiation stage-specific manner
Ectopic expression of KDM6A antagonized TGF-beta (show TGFB1 Proteins)-induced epithelial-mesenchymal transition and cell migration of lung cancer cells through its demethylase (show MBD2 Proteins) activity.
this study reveals how UTX regulates the development of invariant natural killer T cells through multiple epigenetic mechanisms
Study demonstrated that the mammary luminal lineage relies on KDM6A to ensure a transcription program leading to differentiated alveoli. Failure to fully implement this program results in structurally and functionally impaired mammary tissue.
differentiating embryonic stem cells (ESCs (show NR2E3 Proteins)) depend on KDM6 and the H3K27me3 demethylase (show MBD2 Proteins) activity is crucially involved in DNA damage response and survival of differentiating ESCs (show NR2E3 Proteins).
a critical role for the enzymatic activity of UTX in activating muscle-specific (show EIF3K Proteins) gene expression during myofiber regeneration and have revealed a physiological role for active H3K27 demethylation in vivo.
Results propose that Utx plays important roles in osteoblast differentiation by controlling the expressions of Runx2 (show RUNX2 Proteins) and Osterix (show SP7 Proteins).
This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3.
lysine (K)-specific demethylase 6A
, 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 chromosome
, ubiquitously-transcribed TPR protein on the X chromosome
, ubiquitously transcribed tetratricopeptide repeat, X chromosome
, 4lysine (K)-specific demethylase 6A
, ubiquitously transcribed TPR protein on the X chromosome
, ubiquitously transcribed X chromosome tetratricopeptide repeat protein
, ubiquitously transcribed tetratricopeptide repeat gene, X chromosome
, ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome