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Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay.

ABSTRACT: Congenital forms of hearing impairment can be caused by mutations in the estrogen related receptor beta (ESRRB) gene. Our initial linkage studies suggested the ESRRB locus is linked to high caries experience in humans.We tested for association between the ESRRB locus and dental caries in 1,731 subjects, if ESRRB was expressed in whole saliva, if ESRRB was associated with the microhardness of the dental enamel, and if ESRRB was expressed during enamel development of mice.Two families with recessive ESRRB mutations and DFNB35 hearing impairment showed more extensive dental destruction by caries. Expression levels of ESRRB in whole saliva samples showed differences depending on sex and dental caries experience.The common etiology of dental caries and hearing impairment provides a venue to assist in the identification of individuals at risk to either condition and provides options for the development of new caries prevention strategies, if the associated ESRRB genetic variants are correlated with efficacy.

SUBMITTER: Weber ML

PROVIDER: S-EPMC4112727 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature

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Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay.

Weber Megan L ML Hsin Hong-Yuan HY Kalay Ersan E BroŽková Dana S DS Shimizu Takehiko T Bayram Merve M Deeley Kathleen K Küchler Erika C EC Forella Jessalyn J Ruff Timothy D TD Trombetta Vanessa M VM Sencak Regina C RC Hummel Michael M Briseño-Ruiz Jessica J Revu Shankar K SK Granjeiro José M JM Antunes Leonardo S LS Antunes Livia A LA Abreu Fernanda V FV Costa Marcelo C MC Tannure Patricia N PN Koruyucu Mine M Patir Asli A Poletta Fernando A FA Mereb Juan C JC Castilla Eduardo E EE Orioli Iêda M IM Marazita Mary L ML Ouyang Hongjiao H Jayaraman Thottala T Seymen Figen F Vieira Alexandre R AR

BMC medical genetics 20140715

<h4>Background</h4>Congenital forms of hearing impairment can be caused by mutations in the estrogen related receptor beta (ESRRB) gene. Our initial linkage studies suggested the ESRRB locus is linked to high caries experience in humans.<h4>Methods</h4>We tested for association between the ESRRB locus and dental caries in 1,731 subjects, if ESRRB was expressed in whole saliva, if ESRRB was associated with the microhardness of the dental enamel, and if ESRRB was expressed during enamel developmen ...[more]

PMID: 25023176

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Project description:BACKGROUND:Breast cancer (BC) is highly heterogeneous with ~?60-70% of estrogen receptor positive BC patient's response to anti-hormone therapy. Estrogen receptors (ERs) play an important role in breast cancer progression and treatment. Estrogen related receptors (ERRs) are a group of nuclear receptors which belong to orphan nuclear receptors, which have sequence homology with ERs and share target genes. Here, we investigated the possible role and clinicopathological importance of ERR? in breast cancer. METHODS:Estrogen related receptor ? (ERR?) expression was examined using tissue microarray slides (TMA) of Breast Carcinoma patients with adjacent normal by immunohistochemistry and in breast cancer cell lines. In order to investigate whether ERR? is a direct target of ER?, we investigated the expression of ERR? in short hairpin ribonucleic acid knockdown of ER? breast cancer cells by western blot, qRT-PCR and RT-PCR. We further confirmed the binding of ER? by electrophoretic mobility shift assay (EMSA), chromatin immunoprecipitation (ChIP), Re-ChIP and luciferase assays. Fluorescence-activated cell sorting analysis (FACS) was performed to elucidate the role of ERR? in cell cycle regulation. A Kaplan-Meier Survival analysis of GEO dataset was performed to correlate the expression of ERR? with survival in breast cancer patients. RESULTS:Tissue microarray (TMA) analysis showed that ERR? is significantly down-regulated in breast carcinoma tissue samples compared to adjacent normal. ER?+?ve breast tumors and cell lines showed a significant expression of ERR? compared to ER-ve tumors and cell lines. Estrogen treatment significantly induced the expression of ERR? and it was ER? dependent. Mechanistic analyses indicate that ER? directly targets ERR? through estrogen response element and ERR? also mediates cell cycle regulation through p18, p21cip and cyclin D1 in breast cancer cells. Our results also showed the up-regulation of ERR? promoter activity in ectopically co-expressed ER? and ERR? breast cancer cell lines. Fluorescence-activated cell sorting analysis (FACS) showed increased G0/G1 phase cell population in ERR? overexpressed MCF7 cells. Furthermore, ERR? expression was inversely correlated with overall survival in breast cancer. Collectively our results suggest cell cycle and tumor suppressor role of ERR? in breast cancer cells which provide a potential avenue to target ERR? signaling pathway in breast cancer. CONCLUSION:Our results indicate that ERR? is a negative regulator of cell cycle and a possible tumor suppressor in breast cancer. ERR? could be therapeutic target for the treatment of breast cancer.

Dataset Information

Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay.

Publications

Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay.

Similar Datasets

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