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Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.


ABSTRACT: Somatically acquired epigenetic changes are present in many cancers. Epigenetic regulation is maintained via post-translational modifications of core histones. Here, we describe inactivating somatic mutations in the histone lysine demethylase gene UTX, pointing to histone H3 lysine methylation deregulation in multiple tumor types. UTX reintroduction into cancer cells with inactivating UTX mutations resulted in slowing of proliferation and marked transcriptional changes. These data identify UTX as a new human cancer gene.

SUBMITTER: van Haaften G 

PROVIDER: S-EPMC2873835 | biostudies-literature | 2009 May

REPOSITORIES: biostudies-literature

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Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.

van Haaften Gijs G   Dalgliesh Gillian L GL   Davies Helen H   Chen Lina L   Bignell Graham G   Greenman Chris C   Edkins Sarah S   Hardy Claire C   O'Meara Sarah S   Teague Jon J   Butler Adam A   Hinton Jonathan J   Latimer Calli C   Andrews Jenny J   Barthorpe Syd S   Beare Dave D   Buck Gemma G   Campbell Peter J PJ   Cole Jennifer J   Forbes Simon S   Jia Mingming M   Jones David D   Kok Chai Yin CY   Leroy Catherine C   Lin Meng-Lay ML   McBride David J DJ   Maddison Mark M   Maquire Simon S   McLay Kirsten K   Menzies Andrew A   Mironenko Tatiana T   Mulderrig Lee L   Mudie Laura L   Pleasance Erin E   Shepherd Rebecca R   Smith Raffaella R   Stebbings Lucy L   Stephens Philip P   Tang Gurpreet G   Tarpey Patrick S PS   Turner Rachel R   Turrell Kelly K   Varian Jennifer J   West Sofie S   Widaa Sara S   Wray Paul P   Collins V Peter VP   Ichimura Koichi K   Law Simon S   Wong John J   Yuen Siu Tsan ST   Leung Suet Yi SY   Tonon Giovanni G   DePinho Ronald A RA   Tai Yu-Tzu YT   Anderson Kenneth C KC   Kahnoski Richard J RJ   Massie Aaron A   Khoo Sok Kean SK   Teh Bin Tean BT   Stratton Michael R MR   Futreal P Andrew PA  

Nature genetics 20090329 5


Somatically acquired epigenetic changes are present in many cancers. Epigenetic regulation is maintained via post-translational modifications of core histones. Here, we describe inactivating somatic mutations in the histone lysine demethylase gene UTX, pointing to histone H3 lysine methylation deregulation in multiple tumor types. UTX reintroduction into cancer cells with inactivating UTX mutations resulted in slowing of proliferation and marked transcriptional changes. These data identify UTX a  ...[more]

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