ArticleFrontiers in genetics2018
Expanded Somatic Mutation Spectrum of MED12 Gene in Uterine Leiomyomas of Saudi Arabian Women.
Article in Frontiers in genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 23 citations in OpenAlex.
- Detection of exon2-MED12 mutations in uterine leiomyomas from Syrian patients.Scientific reports · 2025Article
- Assessing the role of serum prolactin levels and coding region somatic mutations of the prolactin gene in Saudi uterine leiomyoma patients.Archives of medical science : AMS · 2025Article
- Comparative transcriptome analysis of two contrasting genotypes provides new insights into the drought response mechanism in pigeon pea (Cajanus cajan L. Millsp.).Genes & genomics · 2024Article
- Gene variants polymorphisms and uterine leiomyoma: an updated review.Frontiers in genetics · 2024Review
- Association of health and lifestyle factors with uterine fibroids among Saudi women: A case-control study.Journal of Taibah University Medical Sciences · 2022Article
- Transcriptional control of human gametogenesis.Human reproduction update · 2022Article
- The role of mediator subunit 12 in tumorigenesis and cancer therapeutics.Oncology letters · 2022Review
- Familial Predisposition to Leiomyomata: Searching for Protective Genetic Factors.Biomedicines · 2022Article
- Genome-Wide Association Study-Guided Exome Rare Variant Burden Analysis Identifies IL1R1 and CD3E as Potential Autoimmunity Risk Genes for Celiac Disease.Frontiers in pediatrics · 2022Article
- Association of Vitamin D Anabolism-Related Gene Polymorphisms and Susceptibility to Uterine Leiomyomas.Frontiers in genetics · 2022Article
- Molecular and Cellular Insights into the Development of Uterine Fibroids.International journal of molecular sciences · 2021Review
- Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients.Saudi journal of biological sciences · 2020Article
- Understanding Obesity as a Risk Factor for Uterine Tumors Using Drosophila.Advances in experimental medicine and biology · 2019Review
- Multiple Mutations in Exon-2 of Med-12 Identified in Uterine Leiomyomata.Journal of reproduction & infertilityArticle
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
MED12, a subunit of mediator complex genes is known to harbor genetic mutations, (mostly in exon 2), causal to the genesis of uterine leiomyomas among Caucasian, African American, and Asian women. However, the precise relationship between genetic mutations vs. protein or disease phenotype is not well-explained. Therefore, we sought to replicate the MED12 mutation frequency in leiomyomas of Saudi Arabian women, who represents ethnically and culturally distinct population. We performed molecular screening of MED12 gene (in 308 chromosomes belonging to 154 uterine biopsies), analyzed the genotype-disease phenotype correlations and determined the biophysical characteristics of mutated protein through diverse computational approaches. We discovered that >44% (34/77) leiomyomas of Arab women carry a spectrum of MED12 mutations (30 missense, 1 splice site, and 3 indels). In addition to known codon 44, we observed novel somatic mutations in codons 36, 38, and 55. Most genetically mutated tumors (27/30; 90%) demonstrated only one type of genetic change, highlighting that even single allele change in MED12 can have profound impact in transforming the normal uterine myometrium to leiomyomas. An interesting inverse correlation between tumor size and LH is observed when tumor is positive to MED12 mutation (
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