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Lysine Demethylase KDM6A in Differentiation, Development, and Cancer [PDF]

Molecular and Cellular Biology, 2020
Lysine demethylase 6A (KDM6A), also known as UTX, belongs to the KDM6 family of histone H3 lysine 27 (H3K27) demethylases, which also includes UTY and KDM6B (JMJD3). The KDM6A protein contains six tetratricopeptide repeat (TPR) domains and an enzymatic Jumonji C (JmjC) domain that catalyzes the removal of di- and trimethylation on H3K27.
Aaron Broun, Nhien Tran, Kai Ge
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Implication of KDM6A in Bladder Cancer

Pharmacogenomics, 2023
Background: Bladder cancer is a common urogenital malignancy characterized by frequent genetic alterations. Histone demethylase gene KDM6A is commonly mutated in bladder cancer. Aim: To review the characteristics of KDM6A and its mutation consequences, and to introduce a potential KDM6A-targeted treatment.
Marianne Matar, Gilles Prince, Ibrahim Hamati, Maria Baalbaky, Jonas Fares, Marc Aoude, Charbel Matar, Hampig Raphael Kourie   +7 more
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AML-388: KDM6A Mutation in AML

Clinical Lymphoma Myeloma and Leukemia, 2020
Introduction Loss of KDM6A expression has been reported as a potential drug resistance mechanism in AML. Here, we describe the clinical characteristics and treatment outcomes in our cohort of AML patients with KDM6A mutations. Methods We annotated a cohort of 293 AML patients who were treated at our center between Jan 2016 and Dec 2019.
Vijendra Singh, Omar Albanyan, Suresh Balasubramanian, Seongho Kim, Jay Yang   +4 more
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KDM6A Point Mutations Cause Kabuki Syndrome

Human Mutation, 2012
Kabuki syndrome (KS) is a rare congenital anomaly syndrome characterized by a unique facial appearance, growth retardation, skeletal abnormalities, and intellectual disability. In 2010, MLL2 was identified as a causative gene. On the basis of published reports, 55-80% of KS cases can be explained by MLL2 abnormalities.
Noriko, Miyake, Seiji, Mizuno, Nobuhiko, Okamoto, Hirofumi, Ohashi, Masaaki, Shiina, Kazuhiro, Ogata, Yoshinori, Tsurusaki, Mitsuko, Nakashima, Hirotomo, Saitsu, Norio, Niikawa, Naomichi, Matsumoto   +10 more
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Kdm6a overexpression improves the development of cloned mouse embryos

Zygote, 2017
SummarySomatic cell nuclear transfer (SCNT) is an important technique for life science research. However, most SCNT embryos fail to develop to term due to undefined reprogramming defects. Here, we show that abnormal Xi occurs in somatic cell NT blastocysts, whereas in female blastocysts derived from cumulus cell nuclear transfer, both X chromosomes ...
Guang-Yu, Bai, Si-Hang, Song, Yu-Wei, Zhang, Xiang, Huang, Xing-Wei, Huang, Rui-Zhen, Sun, Lei, Lei   +6 more
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Roles of Kdm6a and Kdm6b in regulation of mammalian neural regeneration

2023
Abstract Epigenetic regulation of neuronal transcriptomic landscape is emerging to be a key coordinator of mammalian neural regeneration. Here we investigated roles of two histone 3 lysine 27 (H3K27) demethylases Kdm6a/b in controlling neuroprotection and axon regeneration.
Shu-Guang Yang, Xue-Wei Wang, Chang-Ping Li, Tao Huang, Cheng Qian, Qiao Li, Ling-Rui Zhao, Si-Yu Zhou, Chen-Yun Ding, null Saijilafu, Chang-Mei Liu, Feng-Quan Zhou   +11 more
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Abstract 4733: Effect of KDM6A mutation in bladder cancer

Cancer Research, 2023
Abstract As of 2020, bladder cancer is the tenth most common cancer in the world, with a heavier toll exerted on males. Its higher tumor recurrence and progression rates cause major treatment challenges. One of the most frequent mutations in bladder cancer is in lysine-specific demethylase 6A (KDM6A).
Ninh B. Le, Hong Qiu, Emily E. Fink, Surbhi Sona, Angela H. Ting, Byron H. Lee   +5 more
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MLL2 and KDM6A mutations in patients with Kabuki syndrome

American Journal of Medical Genetics Part A, 2013
AbstractKabuki syndrome is a congenital anomaly syndrome characterized by developmental delay, intellectual disability, specific facial features including long palpebral fissures and ectropion of the lateral third of the lower eyelids, prominent digit pads, and skeletal and visceral abnormalities. Mutations in MLL2 and KDM6A cause Kabuki syndrome.
Noriko, Miyake, Eriko, Koshimizu, Nobuhiko, Okamoto, Seiji, Mizuno, Tsutomu, Ogata, Toshiro, Nagai, Tomoki, Kosho, Hirofumi, Ohashi, Mitsuhiro, Kato, Goro, Sasaki, Hiroyo, Mabe, Yoriko, Watanabe, Makoto, Yoshino, Toyojiro, Matsuishi, Jun-ichi, Takanashi, Vorasuk, Shotelersuk, Mustafa, Tekin, Nobuhiko, Ochi, Masaya, Kubota, Naoko, Ito, Kenji, Ihara, Toshiro, Hara, Hidefumi, Tonoki, Tohru, Ohta, Kayoko, Saito, Mari, Matsuo, Mari, Urano, Takashi, Enokizono, Astushi, Sato, Hiroyuki, Tanaka, Atsushi, Ogawa, Takako, Fujita, Yoko, Hiraki, Sachiko, Kitanaka, Yoichi, Matsubara, Toshio, Makita, Masataka, Taguri, Mitsuko, Nakashima, Yoshinori, Tsurusaki, Hirotomo, Saitsu, Ko-ichiro, Yoshiura, Naomichi, Matsumoto, Norio, Niikawa   +42 more
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KDM6A Demethylase Regulates Renal Sodium Excretion and Blood Pressure

Hypertension
BACKGROUND: KDM6A (Lysine-Specific Demethylase 6A) is a specific demethylase for histone 3 lysine (K) 27 trimethylation (H3K27me3). The purpose of this study is to investigate whether KDM6A in renal tubule cells plays a role in the regulation of kidney function and blood pressure. METHODS:
Xiaobin Han, Leah Akinseye, Zhongjie Sun
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[KDM6A mutation and expression in gastric cancer are associated with prognosis].

Zhonghua zhong liu za zhi [Chinese journal of oncology], 2020
Objective: To investigate the relationship between KDM6A mutation or expression and clinicopathological characteristics of gastric cancer. Methods: Fifty-seven cases of gastric cancer tissues were analyzed by second-generation sequencing, and bioinformation database such as Cbioportal, Kaplan Meier-Plotter, and the Human Protein Atlas were used to ...
L L, Li, Z G, Huang, Y W, Wang, M, Lu, K W, Hu   +4 more
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