Article
CTCF/cohesin-binding sites are frequently mutated in cancer.
Nature genetics - 1 Jul 2015
Katainen Riku, Dave Kashyap, Pitkänen Esa, Palin Kimmo, Kivioja Teemu, Välimäki Niko, Gylfe Alexandra E, Ristolainen Heikki, Hänninen Ulrika A, Cajuso Tatiana, Kondelin Johanna, Tanskanen Tomas, Mecklin Jukka-Pekka, Järvinen Heikki, Renkonen-Sinisalo Laura, Lepistö Anna, Kaasinen Eevi, Kilpivaara Outi, Tuupanen Sari, Enge Martin, Taipale Jussi, Aaltonen Lauri A
Abstract excerpt
Cohesin is present in almost all active enhancer regions, where it is associated with transcription factors. Cohesin frequently colocalizes with CTCF (CCCTC-binding factor), affecting genomic stability, expression and epigenetic homeostasis. Cohesin subunits are mutated in cancer, but CTCF/cohesin-binding sites (CBSs) in DNA have not been examined for mutations. Here we report frequent mutations at CBSs in...
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