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

作者：Makinen 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; Bohling Tom; Koski Taru A; Launonen Virpi; Sjoberg Jari; Taipale Jussi; Vahteristo Pia; Aaltonen Lauri A^*

来源：Science, 2011, 334(6053): 252-255.

DOI：10.1126/science.1208930

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.

• 出版日期2011-10-14