Khadka Subash, Lukas Brandon, Sun Claire Xin, Muralimanoharan Sribalasubashini, Shanmugasundaram Karthigayan, Khosh Azad, Schenken Claire, Stansbury Nicholas, Schenken Robert, Firestein Ron, Dai Yang, Boyer Thomas
UT Health San Antonio: The University of Texas Health Science Center at San Antonio.
University of Illinois Chicago.
Res Sq. 2024 Dec 16:rs.3.rs-5125876. doi: 10.21203/rs.3.rs-5125876/v1.
Uterine fibroids (UFs) are the most common non-cutaneous tumors in women worldwide. UFs arise from genetic alterations in myometrial stem cells (MM SCs) that trigger their transformation into tumor initiating cells (UF SCs). Mutations in the RNA polymerase II Mediator subunit MED12 are dominant drivers of UFs, accounting for 70% of these clinically significant lesions. Biochemically, UF driver mutations in MED12 disrupt CDK8/19 kinase activity in Mediator, but how Mediator kinase disruption triggers MM SC transformation remains unknown. Here, we show that pharmacologic inhibition of CDK8/19 in MM SCs removes a barrier to myogenic differentiation down an altered pathway characterized by molecular phenotypes characteristic of UFs, including oncogenic growth and extracellular matrix (ECM) production. These perturbations appear to be induced by transcriptomic changes, arising in part through epigenomic alteration and super-enhancer reprogramming, that broadly recapitulate those found in MED12-mutant UFs. Altogether these findings provide new insights concerning the biological role of CDK8/19 in MM SC biology and UF formation.
子宫肌瘤(UFs)是全球女性中最常见的非皮肤肿瘤。子宫肌瘤源于子宫肌层干细胞(MM SCs)的基因改变,这种改变促使它们转化为肿瘤起始细胞(UF SCs)。RNA聚合酶II中介亚基MED12的突变是子宫肌瘤的主要驱动因素,占这些具有临床意义病变的70%。在生物化学层面,MED12中的子宫肌瘤驱动突变会破坏中介体中的CDK8/19激酶活性,但中介体激酶破坏如何触发MM SC转化仍不清楚。在此,我们表明,对MM SCs中的CDK8/19进行药物抑制消除了肌源性分化的一个障碍,使其沿着一条以子宫肌瘤特征性分子表型为特征的改变途径进行,这些表型包括致癌生长和细胞外基质(ECM)产生。这些扰动似乎是由转录组变化诱导的,部分是通过表观基因组改变和超级增强子重编程产生的,这些变化广泛地概括了在MED12突变型子宫肌瘤中发现的那些变化。这些发现共同为CDK8/19在MM SC生物学和子宫肌瘤形成中的生物学作用提供了新的见解。