MED12, the Mediator Complex Subunit 12 Gene, Is Mutated at High Frequency in Uterine Leiomyomas

Research output: Journal Publications and Reviews (RGC: 21, 22, 62)21_Publication in refereed journal

346 Scopus Citations
View graph of relations

Author(s)

  • Netta Mäkinen
  • Miika Mehine
  • Jaana Tolvanen
  • Eevi Kaasinen
  • Yilong Li
  • Heli J. Lehtonen
  • Massimiliano Gentile
  • Martin Enge
  • Minna Taipale
  • Mervi Aavikko
  • Riku Katainen
  • Elina Virolainen
  • Tom Böhling
  • Taru A. Koski
  • Virpi Launonen
  • Jari Sjöberg
  • Jussi Taipale
  • Pia Vahteristo
  • Lauri A. Aaltonen

Detail(s)

Original languageEnglish
Pages (from-to)252-255
Journal / PublicationScience
Volume334
Issue number6053
Online published15 Aug 2011
Publication statusPublished - 14 Oct 2011
Externally publishedYes

Abstract

Uterine leiomyomas, or fibroids, are benign tumors that affect millions of women worldwide and that can cause considerable morbidity. To study the genetic basis of this tumor type, we examined 18 uterine leiomyomas derived from 17 different patients by exome sequencing and identified tumor-specific mutations in the mediator complex subunit 12 (MED12) gene in 10. Through analysis of 207 additional tumors, we determined that MED12 is altered in 70% (159 of 225) of tumors from a total of 80 patients. The Mediator complex is a 26-subunit transcriptional regulator that bridges DNA regulatory sequences to the RNA polymerase II initiation complex. All mutations resided in exon 2, suggesting that aberrant function of this region of MED12 contributes to tumorigenesis.

Citation Format(s)

MED12, the Mediator Complex Subunit 12 Gene, Is Mutated at High Frequency in Uterine Leiomyomas. / Mäkinen, Netta; Mehine, Miika; Tolvanen, Jaana; Kaasinen, Eevi; Li, Yilong; Lehtonen, Heli J.; Gentile, Massimiliano; Yan, Jian; Enge, Martin; Taipale, Minna; Aavikko, Mervi; Katainen, Riku; Virolainen, Elina; Böhling, Tom; Koski, Taru A.; Launonen, Virpi; Sjöberg, Jari; Taipale, Jussi; Vahteristo, Pia; Aaltonen, Lauri A.

In: Science, Vol. 334, No. 6053, 14.10.2011, p. 252-255.

Research output: Journal Publications and Reviews (RGC: 21, 22, 62)21_Publication in refereed journal