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 › peer-review
Author(s)
Detail(s)
Original language | English |
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Pages (from-to) | 252-255 |
Journal / Publication | Science |
Volume | 334 |
Issue number | 6053 |
Online published | 15 Aug 2011 |
Publication status | Published - 14 Oct 2011 |
Externally published | Yes |
Link(s)
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 › peer-review