ArticleMolecular genetics and genomics : MGG2015
Novel MED12 gene somatic mutations in women from the Southern United States with symptomatic uterine fibroids.
Article in Molecular genetics and genomics : MGG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 74 citations in OpenAlex.
- Vitamin D and Uterine Fibroids: Insights into Pathophysiology and Therapeutic Potential.Endocrine reviews · 2026Review
- Mechanical Stiffness Influences the Response of Human Uterine Fibroid Cells to Hormonal Treatments.Reproductive sciences (Thousand Oaks, Calif.) · 2026Article
- Gene variants polymorphisms and uterine leiomyoma: an updated review.Frontiers in genetics · 2024Review
- The Influence of Race/Ethnicity on the Transcriptomic Landscape of Uterine Fibroids.International journal of molecular sciences · 2023Article
- Single-cell sequencing reveals novel cellular heterogeneity in uterine leiomyomas.Human reproduction (Oxford, England) · 2022Article
- Comprehensive Review of Uterine Fibroids: Developmental Origin, Pathogenesis, and Treatment.Endocrine reviews · 2022Review
- Transcriptional control of human gametogenesis.Human reproduction update · 2022Article
- Apoplectic leiomyomas: does ethnicity make a difference? a clinicopathologic study.Virchows Archiv : an international journal of pathology · 2022Article
- The Evolving Role of Natural Compounds in the Medical Treatment of Uterine Fibroids.Journal of clinical medicine · 2020Review
- Introduction of Somatic Mutation in MED12 Induces Wnt4/β-Catenin and Disrupts Autophagy in Human Uterine Myometrial Cell.Reproductive sciences (Thousand Oaks, Calif.) · 2020Article
- A Preliminary Study: Human Fibroid Stro-1Reproductive sciences (Thousand Oaks, Calif.) · 2019Article
- Understanding Obesity as a Risk Factor for Uterine Tumors Using Drosophila.Advances in experimental medicine and biology · 2019Review
- The Role of Tumor Necrosis Factor α in the Biology of Uterine Fibroids and the Related Symptoms.International journal of molecular sciences · 2018Review
- Mediator Kinase Disruption in MED12-Mutant Uterine Fibroids From Hispanic Women of South Texas.The Journal of clinical endocrinology and metabolism · 2018Article
- Endocrine disruptor exposure during development increases incidence of uterine fibroids by altering DNA repair in myometrial stem cells.Biology of reproduction · 2018Article
- Management of a giant uterine leiomyoma.BMJ case reports · 2018Article
- Vitamin D and Uterine Fibroids-Review of the Literature and Novel Concepts.International journal of molecular sciences · 2018Review
- Article
- Uterine fibroids and risk of hypertension: Implication of inflammation and a possible role of the renin-angiotensin-aldosterone system.Journal of clinical hypertension (Greenwich, Conn.) · 2018Article
- Clinical, pathologic, cytogenetic, and molecular profiling in self-identified black women with uterine leiomyomata.Cancer genetics · 2018Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Although somatic mutations in exon 2 of the mediator complex subunit 12 (MED12) gene have been reported previously in uterine fibroids in women from Finland, South Africa, and North America, the status of these mutations was not reported in the Southern United States women. The aim of this study is to determine the MED12 somatic mutations in uterine fibroids of women from Southern Unites States, which will help to better understand the contribution of MED12 mutations in fibroid tumor biology. Herein, we determined the frequency of MED12 gene exon 2 somatic mutations in 143 fibroid tumors from a total of 135 women from the Southern United States and in 50 samples of the adjacent myometrium using PCR amplification and Sanger sequencing. We observed that the MED12 gene is mutated in 64.33 % (92/143) of uterine fibroid cases in the exon 2 (including deletion mutations). These mutations include 107T > G (4.3 %), 130G > C (2.8 %), 130G > A (7.0 %), 130G > T (2.8 %), 131G > C (2.1 %), 131G > A (20.2 %), and 131G > T (2.1 %). Interestingly, we identified four novel mutations in these patients: 107 T > C (12.8 %), 105A > T (2.1 %), 122T > A (2.1 %), and 92T > A (2.1 %). As expected, we did not observe any mutations in the normal myometrium. Moreover, we found a higher rate of deletion mutations (17.5 %, 25/143) in the above fibroid tumors. Our results clearly demonstrate that the MED12 gene exon 2 is frequently mutated in human uterine fibroids in Southern United States women. These results highlight the molecular pathogenesis of human uterine fibroids with the central role of MED12 somatic mutations.
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