Somatic mutations of the histone H3K27 demethylase, UTX, in human cancer

• Published in: Nature genetics Vol. 41; no. 5; pp. 521 - 523
• Main Authors: van Haaften, Gijs, Dalgliesh, Gillian L, Davies, Helen, Chen, Lina, Bignell, Graham, Greenman, Chris, Edkins, Sarah, Hardy, Claire, O’Meara, Sarah, Teague, Jon, Butler, Adam, Hinton, Jonathan, Latimer, Calli, Andrews, Jenny, Barthorpe, Syd, Beare, Dave, Buck, Gemma, Campbell, Peter J, Cole, Jennifer, Dunmore, Rebecca, Forbes, Simon, Jia, Mingming, Jones, David, Kok, Chai Yin, Leroy, Catherine, Lin, Meng-Lay, McBride, David J, Maddison, Mark, Maquire, Simon, McLay, Kirsten, Menzies, Andrew, Mironenko, Tatiana, Lee, Mulderrig, Mudie, Laura, Pleasance, Erin, Shepherd, Rebecca, Smith, Raffaella, Stebbings, Lucy, Stephens, Philip, Tang, Gurpreet, Tarpey, Patrick S, Turner, Rachel, Turrell, Kelly, Varian, Jennifer, West, Sofie, Widaa, Sara, Wray, Paul, Collins, V Peter, Ichimura, Koichi, Law, Simon, Wong, John, Yuen, Siu Tsan, Leung, Suet Yi, Tonon, Giovanni, DePinho, Ronald A, Tai, Yu-Tzu, Anderson, Kenneth C, Kahnoski, Richard J., Massie, Aaron, Khoo, Sok Kean, Teh, Bin Tean, Stratton, Michael R, Futreal, P Andrew
• Format: Journal Article
• Language: English
• Published: 29.03.2009
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng.349

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, UTX, pointing to histone H3 lysine methylation deregulation in multiple tumour 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.