Use your antibodies-online credentials, if available.
The mutation pattern of KMT2D and KDM6A in a cohort of 505 patients clinically diagnosed as Kabuki syndrome was reported.
we retrospectively evaluated 100 infants with HI lacking a genetic diagnosis, for causative variants in KS genes. Molecular diagnoses of KS were established by identification of pathogenic variants in KMT2D (n = 5) and KDM6A (n = 4).
The histone demethylase UTX/KDM6A is mutated in up to 10% of cases of multiple myeloma, activating genes by removing the H3K27me3 repressive histone mark, counteracting EZH2 activity.
Lymphomas with low UTX expression express high levels of Efnb1, and cause significantly poor survival.
data suggest that haploinsufficiency for KDM6A due to mosaic X chromosome monosomy may be responsible for hyperinsulinism in Turner syndrome.
High UTX expression is independently associated with a better prognosis in patients with esophageal squamous cell carcinoma (ESCC) and downregulation of UTX increases ESCC cell growth and decreases E-cadherin expression. Our results suggest that UTX may be a novel therapeutic target for patients with ESCC.
Depletion of KDM6A inhibits the expression of SOX9, Col2a1, ACAN and results in increased H3K27me3 and decreased H3K4me3 levels.
Rebalance of Histone h3 lysine 27 methylation 3 levels at specific genes through EZH2 inhibitors may be a therapeutic strategy in multiple myeloma cases harboring UTX mutations.
both UTX and UTY function as dose-dependent suppressors of urothelial bladder cancer development
Two novel missense mutations: p.G325A in the KDM6A gene responsible for Kabuki syndrome and p.G1877V in the SCN1A gene responsible for generalized epilepsy with febrile seizures plus were identified using the TruSight One sequencing panel.
inactivating mutations of KDM6A, which are common in urothelial bladder carcinoma, are potentially targetable by inhibiting EZH2.
Study presents a mutation screening of patients with Kabuki syndrome type 1 which identified 208 mutations in KMT2D. Two of the KDM6A mutations were maternally inherited and nine were shown to be de novo.
Data show that more mutations in the histone lysine demethylase KDM6A were present in non-invasive tumors from females than males.
Here, we discuss the roles of lysine 27 demethylases, JMJD3 and UTX, in cancer and potential therapeutic avenues targeting these enzymes. Despite a high degree of sequence similarity in the catalytic domain between JMJD3 and UTX, numerous studies revealed surprisingly contrasting roles in cellular reprogramming and cancer, particularly leukemia
we identified a novel de novo deletion of KDM6A in a Chinese girl with KS. We consider her allergic skin manifestations to be part of the phenotypic spectrum of KS
KDM6A and p21CIP1 expression are essential to curb E7 induced replication stress to levels that do not markedly interfere with cell viability
Study identified a feed-forward loop between UTX and ER in the regulation of hormonally responsive breast carcinogenesis.
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
Utx or Pten overexpression can rescue the impairment of brain development caused by Utx loss.
Utx suppresses chronic myelomonocytic leukemia (CMML) formation by controlling hematopoietic stem cell self-renewal and differentiation.
native UTX is primarily localized in the cytoplasm whereas ectopic GFP and Flag-tagged UTX display nuclear and cytoplasmic localization. While its epigenetic function is exerted in the nucleus, its cytoplasmic localization points to a novel function.
Kdm6a expression improved the development of cloned mouse embryos by reducing H3K27me3 and increasing rDNA transcription.
study provides a systematic screening of TSGs in vivo and identifies UTX as an important epigenetic regulator in lung tumorigenesis.
UTX molecular function is in establishing appropriate chromatin structure to regulate crucial neural crest stem-cell signaling pathways.
When JMJD3 levels were decreased by RNA interference, the embryo development rate and quality were improved, but the knockdown of UTX produced the opposite results.
results reveal a previously unknown role of kdm6a in promoting innate IFN-beta gene transcription at enhancer, in addition to demethylation at promoter
Long-term exposure to atmospheric particulates, PM2.5 up-regulated H3K4 and H3K9 methylation in IL-6 and IFN-beta promoter regions through down-regulating Kdm6a expression. The results suggest that short-term exposure to PM2.5 significantly enhances the survival rate of influenza A-contaminated mice, while long-term PM2.5 inhalation lowers the capacity of pulmonary macrophages to secrete IL-6 and IFN-beta.
UTX-MLL4-p300 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 activity of Jmjd3, but not that of Utx, affects mouse axial patterning in concert with alterations in Hox gene expression.
Utx governs adipogenesis by regulating c-Myc in a differentiation stage-specific manner
Ectopic expression of KDM6A antagonized TGF-beta-induced epithelial-mesenchymal transition and cell migration of lung cancer cells through its demethylase activity.
this study reveals how UTX regulates the development of invariant natural killer T cells through multiple epigenetic mechanisms
The results define UTX as a bivalency-resolving histone modifier necessary for stem cell differentiation
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) depend on KDM6 and the H3K27me3 demethylase activity is crucially involved in DNA damage response and survival of differentiating ESCs.
a critical role for the enzymatic activity of UTX in activating muscle-specific 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 and Osterix.
Following knockdown of kmt2d and the two zebrafish paralogs kdm6a and kdm6al, we analyzed morphants for developmental abnormalities in tissues that are affected in individuals with KS, including craniofacial structures, heart and brain
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
, 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, X chromosome
, ubiqiutous TPR motif protein
, lysine (K)-specific demethylase 6A S homeolog
, lysine demethylase 6A S homeolog
, ubiquitously transcribed tetratricopeptide repeat gene, Y-linked
, ubiquitous TPR motif protein