Mutations in Exon 1 Highlight the Role of MED12 in Uterine Leiomyomas. Issue 9 (21st July 2014)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: Human mutation. Volume 35:Issue 9(2014:Sep.)
• Page Start: 1136
• Page End: 1141
• Publication Date: 2014-07-21
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22612
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22612-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Uterine leiomyomas are the most common human tumors with highly specific mutations reported in <italic>MED12</italic> exon 2. Here, we show that mutations occur recurrently also in <italic>MED12</italic> exon 1. Transcriptome‐wide gene expression profiling and functional analyses show that exon 1 and 2 mutations promote tumorigenesis through similar mechanism. These results bring new knowledge on MED12 function and highlight the role of <italic>MED12</italic> in human tumorigenesis. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgh11pns9q5" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>