Article
Somatic MED12 Nonsense Mutation Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry.
Human mutation - 1 Mar 2017
Heikkinen Tuomas, Kämpjärvi Kati, Keskitalo Salla, von Nandelstadh Pernilla, Liu Xiaonan, Rantanen Ville, Pitkänen Esa, Kinnunen Matias, Kuusanmäki Heikki, Kontro Mika, Turunen Mikko, Mäkinen Netta, Taipale Jussi, Heckman Caroline, Lehti Kaisa, Mustjoki Satu, Varjosalo Markku, Vahteristo Pia
Abstract excerpt
MED12 is a key component of the transcription-regulating Mediator complex. Specific missense and in-frame insertion/deletion mutations in exons 1 and 2 have been identified in uterine leiomyomas, breast tumors, and chronic lymphocytic leukemia. Here, we characterize the first MED12 5' end nonsense mutation (c.97G>T, p.E33X) identified in acute lymphoblastic leukemia and show that it escapes nonsense-mediated mRNA...
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