Here we observed that overexpression of HMGA2 mRNA in tumors measured by quantitative PCR and compared to myometrium is a common phenomenon in fibroids and is frequently associated with MED12 mutations. In addition the common clonal origin of tumors overexpressing HMGA2 mRNA and its expression in few myometrial tissue points to HMGA2 up-regulation as an early event in leiomyoma tumorigenesis.
we investigated several MED12 patients mutations (p.R206Q p.N898D p.R961W p.N1007S p.R1148H p.S1165P and p.R1295H) and show that each MED12 mutations cause specific expression patterns of JUN FOS and EGR1 immediate early genes (IEGs) reflected by the presence or absence of MED12 containing complex at their respective promoters.
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