ArticlePloS one2012
Whole exome sequencing in a random sample of North American women with leiomyomas identifies MED12 mutations in majority of uterine leiomyomas.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers.
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Who cites it
83 citing papers in PubMed, 170 citations in OpenAlex.
- Vitamin D3 ameliorates R-loop-induced replication stress and chromosomal instability in MED12-mutant uterine fibroids.Scientific reports · 2026Article
- Vitamin D and Uterine Fibroids: Insights into Pathophysiology and Therapeutic Potential.Endocrine reviews · 2026Review
- Vitamin D3 ameliorates R-loop-induced replication stress and chromosomal instability in MED12-mutant uterine fibroids.Research square · 2026Article
- Mechanical Stiffness Influences the Response of Human Uterine Fibroid Cells to Hormonal Treatments.Reproductive sciences (Thousand Oaks, Calif.) · 2026Article
- Effects of female hormone withdrawal and ulipristal acetate on MED12 mutation positive and negative uterine leiomyomas using a xenograft model.Scientific reports · 2025Article
- Nutrition and Uterine Fibroids: Clinical Impact and Emerging Therapeutic Perspectives.Journal of clinical medicine · 2025Review
- UTERINE FIBROIDS.Physiological reviews · 2025Review
- The Mediator Complex: A Regulatory Hub for Transcriptional Activity of Nuclear Receptors.Cells · 2025Review
- Detection of exon2-MED12 mutations in uterine leiomyomas from Syrian patients.Scientific reports · 2025Article
- Establishment of 3D Cultures of Myometrium, Leiomyoma, and Leiomyosarcoma Cells: Advantages and Disadvantages of Two Different Models.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- Estrogen receptor alpha mediated repression of PRICKLE1 destabilizes REST and promotes uterine fibroid pathogenesis.bioRxiv : the preprint server for biology · 2024Article
- Gene variants polymorphisms and uterine leiomyoma: an updated review.Frontiers in genetics · 2024Review
- Review
- The Influence of Race/Ethnicity on the Transcriptomic Landscape of Uterine Fibroids.International journal of molecular sciences · 2023Article
- COVID-19-The Shift of Homeostasis into Oncopathology or Chronic Fibrosis in Terms of Female Reproductive System Involvement.International journal of molecular sciences · 2023Review
- Racial differences in transcriptomics and reactive oxygen species burden in myometrium and leiomyoma.Human reproduction (Oxford, England) · 2023Article
- A View on Uterine Leiomyoma Genesis through the Prism of Genetic, Epigenetic and Cellular Heterogeneity.International journal of molecular sciences · 2023Review
- Engineered MED12 mutations drive uterine fibroid-like transcriptional and metabolic programs by altering the 3D genome compartmentalization.Research square · 2023Article
- Single-cell sequencing reveals novel cellular heterogeneity in uterine leiomyomas.Human reproduction (Oxford, England) · 2022Article
- Myometrial oxidative stress drives MED12 mutations in leiomyoma.Cell & bioscience · 2022Article
23 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Uterine leiomyomas (uterine fibroids) arise from smooth muscle tissue in the majority of women by age 45. It is common for these clonal tumors to develop from multiple locations within the uterus, leading to a variety of symptoms such as pelvic pain, abnormal uterine bleeding, and infertility. We performed whole exome sequencing on genomic DNA from five pairs of leiomyomas and corresponding normal myometrium to determine genetic variations unique to leiomyomas. Whole exome sequencing revealed that the gene encoding transcription factor MED12 (Mediator complex subunit 12) harbored heterozygous missense mutations caused by single nucleotide variants in highly conserved codon 44 of exon 2 in two of five leiomyomas. Sanger re-sequencing of MED12 among these five leiomyomas confirmed the two single nucleotide variants and detected a 42 base-pair deletion within exon 2 of MED12 in a third leiomyoma. MED12 was sequenced in an additional 143 leiomyomas and 73 normal myometrial tissues. Overall, MED12 was mutated in 100/148 (67%) of the genotyped leiomyomas: 79/148 (53%) leiomyomas exhibited heterozygous missense single nucleotide variants, 17/148 (11%) leiomyomas exhibited heterozygous in-frame deletions/insertion-deletions, 2/148 (1%) leiomyomas exhibited intronic heterozygous single nucleotide variants affecting splicing, and 2/148 (1%) leiomyomas exhibited heterozygous deletions/insertion-deletions spanning the intron 1-exon 2 boundary which affected the splice acceptor site. Mutations were not detected in MED12 in normal myometrial tissue. MED12 mutations were equally distributed among karyotypically normal and abnormal uterine leiomyomas and were identified in leiomyomas from both black and white American women. Our studies show an association between MED12 mutations and leiomyomas in ethnically and racially diverse American women.
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