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Biology subjects

Jefferson, W. N.

Publications and source records attributed to Jefferson, W. N..

3 recordsLinked to original sources

Neonatal diethylstilbestrol exposure disrupts uterine epithelial apical-basal polarity and partial EMT state

The developing female reproductive tract is highly sensitive to external hormonal stimulation, which can result in infertility and gynecologic diseases. To determine the underlying mechanisms, we used a mouse model to test the immediate, cell type-specific effects of neonatal exposure to the estrogenic chemical, diethylstilbestrol (DES), on the developing uterus. We found that control uterine epithelium is in a partial epithelial-mesenchymal transition state that is lost following DES exposure. This is accompanied by evidence of premature differentiation including altered apical-basal cell polarity and absence of the Lgr5+ epithelial stem cell population required for uterine gland formation. Cell-cell communication between epithelial and mesenchymal cells is restructured, and Wnt signaling is persistently reduced. The DES-exposed uterine mesenchyme has early signs of fibrosis through increased deposition of extracellular matrix collagen.Mechanistically, DES exposure causes cell type-specific changes in chromatin accessibility and gene expression, most prominently in epithelial cells. These changes can be explained in part by cell-specific alterations in chromatin looping at enhancer regions in concert with alterations in ER binding. These findings suggest that reprogramming cell type-specific differentiation trajectories and extracellular matrix characteristics underlie the long-term phenotypic effects of developmental exposure to estrogenic endocrine disrupting chemicals. These changes lead to functional impairment of adult tissues and increased cancer risk. Significance StatementUterine development is strongly impacted by brief exposure to estrogenic endocrine disruptors, but it is unclear why development is such a sensitive time point. This study employed multiomic analysis to identify cell type-specific uterine developmental trajectories in neonatal mice exposed to the estrogenic chemical, diethylstilbestrol, and compared these to controls. Control epithelium was under the influence of carefully orchestrated Wnt/{beta}-catenin signaling and was in a partial epithelial-to-mesenchymal transition state. DES exposure repressed Wnt/{beta}-catenin signaling and drove the epithelium toward full differentiation, resulting in the loss of both epithelial stem cells and normal apical-basal polarity. These changes provide an explanation for how endocrine disruptors can divert intrinsically programmed developmental trajectories to alter adult organ function.

developmental biology↗

Estrogen receptor alpha mediated repression of PRICKLE1 destabilizes REST and promotes uterine fibroid pathogenesis

Uterine fibroids (leiomyomas), benign tumors of the myometrial smooth muscle layer, are present in over 75% of women, often causing severe pain, menorrhagia and reproductive dysfunction. The molecular pathogenesis of fibroids is poorly understood. We previously showed that the loss of REST (RE-1 Silencing Transcription factor), a tumor suppressor, in fibroids leads to activation of PI3K/AKT-mTOR pathway. We report here a critical link between estrogen receptor alpha (ER) and the loss of REST, via PRICKLE1. PRICKLE1 expression is markedly lower in leiomyomas, and the suppression of PRICKLE1 significantly down regulates REST protein levels. Conversely, overexpression of PRICKLE1 resulted in the restoration of REST in cultured primary leiomyoma smooth muscle cells (LSMCs). Crucially, mice exposed neonatally to environmental estrogens, proven risk factors for fibroids, expressed lower levels of PRICKLE1 and REST in the myometrium. Using mice that lack either endogenous estrogen (Lhb-/- mice) or ER (Esr1-/- mice), we demonstrate that Prickle1 expression in the myometrium is suppressed by estrogen through ER. Enhancer of zeste homolog 2 (EZH2) is known to participate in the repression of specific ER target genes. Uterine leiomyomas express increased levels of EZH2 that inversely correlate with the expression of PRICKLE1. Using chromatin immunoprecipitation, we provide evidence for association of EZH2 with the PRICKLE1 promoter and for hypermethylation of H3K27 within the regulatory region of PRICKLE1 in leiomyomas. Additionally, siRNA mediated knockdown of EZH2 leads to restoration of PRICKLE1 in LSMCs. Collectively, our results identify a novel link between estrogen exposure and PRICKLE1/REST-regulated tumorigenic pathways in leiomyomas.

cell biology↗

Endocrine disruption of early uterine differentiation causes adenocarcinoma mediated by Wnt/β-catenin- and PI3K/AKT signaling

Developmental exposure to non-mutagenic environmental factors can contribute to cancer risk, but the underlying mechanisms are not understood. We used a mouse model of endometrial adenocarcinoma that results from brief developmental exposure to an estrogenic chemical, diethylstilbestrol (DES), to determine causative factors. Single cell RNA sequencing and spatial transcriptomics of adult uteri revealed new markers of uterine epithelial stem cells, identified luminal and glandular progenitor cells, and defined a glandular epithelial differentiation trajectory. Neonatal DES exposure disrupted uterine epithelial differentiation, resulting in widespread activation of Wnt signaling and a failure to generate epithelial stem cells or distinguishable glandular and luminal epithelial cells. The endometrial stromal cells activated inflammatory signals and oxidative stress. Together, these changes activated PI3K/AKT signaling to drive malignant transformation. These findings explain how human cancers, which are often associated with abnormal activation of PI3K/AKT signaling, could result from exposure to environmental insults during development. HighlightsO_LISingle cell analysis of adult mouse uteri reveals epithelial stem cell markers and gland development trajectory C_LIO_LIDevelopmental DES exposure causes widespread activation of Wnt signaling and failure of epithelial cell differentiation C_LIO_LIUterine adenocarcinoma results from combined Wnt/{beta}-catenin activation, stromal inflammation, and induction of PI3K/AKT signaling C_LIO_LIOLFM4 is a marker of developmental DES-induced uterine adenocarcinoma C_LI

developmental biology↗