Article
Mutations in Exon 1 highlight the role of MED12 in uterine leiomyomas.
Human mutation - 1 Sept 2014
Kämpjärvi Kati, Park Min Ju, Mehine Miika, Kim Nam Hee, Clark Alison D, Bützow Ralf, Böhling Tom, Böhm Jan, Mecklin Jukka-Pekka, Järvinen Heikki, Tomlinson Ian P M, van der Spuy Zephne M, Sjöberg Jari, Boyer Thomas G, Vahteristo Pia
Abstract excerpt
Mediator regulates transcription by connecting gene-specific transcription factors to the RNA polymerase II initiation complex. We recently discovered by exome sequencing that specific exon 2 mutations in mediator complex subunit 12 (MED12) are extremely common in uterine leiomyomas. Subsequent screening studies have focused on this mutational hot spot, and mutations have been detected in uterine leiomyosarcomas,...
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