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MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas.
Science. 2011 Oct 14; 334(6053):252-5.Sci

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.

Authors+Show Affiliations

Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki, Helsinki, Finland.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

21868628

Citation

Mäkinen, Netta, et al. "MED12, the Mediator Complex Subunit 12 Gene, Is Mutated at High Frequency in Uterine Leiomyomas." Science (New York, N.Y.), vol. 334, no. 6053, 2011, pp. 252-5.
Mäkinen N, Mehine M, Tolvanen J, et al. MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas. Science. 2011;334(6053):252-5.
Mäkinen, N., Mehine, M., Tolvanen, J., Kaasinen, E., Li, Y., Lehtonen, H. J., Gentile, M., Yan, J., Enge, M., Taipale, M., Aavikko, M., Katainen, R., Virolainen, E., Böhling, T., Koski, T. A., Launonen, V., Sjöberg, J., Taipale, J., Vahteristo, P., & Aaltonen, L. A. (2011). MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas. Science (New York, N.Y.), 334(6053), 252-5. https://doi.org/10.1126/science.1208930
Mäkinen N, et al. MED12, the Mediator Complex Subunit 12 Gene, Is Mutated at High Frequency in Uterine Leiomyomas. Science. 2011 Oct 14;334(6053):252-5. PubMed PMID: 21868628.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas. AU - Mäkinen,Netta, AU - Mehine,Miika, AU - Tolvanen,Jaana, AU - Kaasinen,Eevi, AU - Li,Yilong, AU - Lehtonen,Heli J, AU - Gentile,Massimiliano, AU - Yan,Jian, AU - Enge,Martin, AU - Taipale,Minna, AU - Aavikko,Mervi, AU - Katainen,Riku, AU - Virolainen,Elina, AU - Böhling,Tom, AU - Koski,Taru A, AU - Launonen,Virpi, AU - Sjöberg,Jari, AU - Taipale,Jussi, AU - Vahteristo,Pia, AU - Aaltonen,Lauri A, Y1 - 2011/08/25/ PY - 2011/8/27/entrez PY - 2011/8/27/pubmed PY - 2011/10/28/medline SP - 252 EP - 5 JF - Science (New York, N.Y.) JO - Science VL - 334 IS - 6053 N2 - 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. SN - 1095-9203 UR - https://www.unboundmedicine.com/medline/citation/21868628/MED12_the_mediator_complex_subunit_12_gene_is_mutated_at_high_frequency_in_uterine_leiomyomas_ L2 - http://www.sciencemag.org/cgi/pmidlookup?view=long&pmid=21868628 DB - PRIME DP - Unbound Medicine ER -