Estrogen receptors, similarly as other nuclear receptors, are transcription factors, which after binding to a proper ligand (17beta-estradiol, estron or estriol) are capable of regulating transcription of target genes. Due to the functions that estrogens play in the regulation of reproduction, development of the mammary gland, growth and differentiation of cells, estrogen receptors and their genes are considered as candidate markers for production and functional traits in farm animals. Known are two isoforms of the estrogen receptor-alpha and beta. They are encoded by separate genes located on different chromosomes. The typical feature of all genes coding for nuclear receptors, including the ER genes, is the complex structure of their 5' regions. In the 5' region of the ERalpha gene of different species are located alternative exons that code for transcripts of different length with different 5'-UTR (untranslated region). The mRNA variants are created by the alternative splicing of the primary transcripts. We sequenced a 2853 bp of the bovine ER gene 5' region, including exons A, B, C and their promoters. Moreover, we found several polymorphic sites, differing by single nucleotide substitutions (SNPs), in the 5' regulatory region and in the coding region of the bovine ERalpha gene.
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http://dx.doi.org/10.1007/s11033-006-9030-x | DOI Listing |
Eur J Endocrinol
January 2025
Department of Internal Medicine IV, LMU University Hospital, LMU Munich, 80336 Munich, Germany.
Objective: The effects of sex hormones remain largely unexplored in pheochromocytomas and paragangliomas (PPGLs) and gastroenteropancreatic neuroendocrine tumors (GEP-NETs).
Methods: We evaluated the effects of estradiol, progesterone, Dehydroepiandrosterone sulfate (DHEAS), and testosterone on human patient-derived PPGL/GEP-NET primary culture cell viability (n = 38/n = 12), performed next-generation sequencing and immunohistochemical hormone receptor analysis in patient-derived PPGL tumor tissues (n = 36).
Results: In PPGLs, estradiol and progesterone (1 µm) demonstrated overall significant antitumor effects with the strongest efficacy in PPGLs with NF1 (cluster 2) pathogenic variants.
Cureus
December 2024
Genetics Unit, Laboratory Department, Al Hada Armed Forces Hospital, Taif, SAU.
An aggressive angiomyxoma (AA) is a rare soft tissue neoplasm of the lower female genital tract. The incidence of vaginal involvement is low, so it is commonly misdiagnosed as a Bartholin cyst, lipoma, and abscess, among others. This is a case of a 31-year-old female patient presenting with anterior vaginal wall swelling measuring 1 x 1 cm, clinically diagnosed as vaginal carbuncle.
View Article and Find Full Text PDFBreast Cancer Res
January 2025
School of Electronic Engineering and Computer Science, Queen Mary University of London, London, UK.
Recent evidence indicates that endocrine resistance in estrogen receptor-positive (ER+) breast cancer is closely correlated with phenotypic characteristics of epithelial-to-mesenchymal transition (EMT). Nonetheless, identifying tumor tissues with a mesenchymal phenotype remains challenging in clinical practice. In this study, we validated the correlation between EMT status and resistance to endocrine therapy in ER+ breast cancer from a transcriptomic perspective.
View Article and Find Full Text PDFJ Sex Med
January 2025
Clinical Obstetric and Gynecological V Buzzi, ASST-FBF-Sacco, Via Castelvetro 24-20124-University of the Study of Milan, Milan, Italy.
Background: Vulvodynia is a multifactorial disease affecting 7%-16% of reproductive-aged women in general population; however, little is still known about the genetics underlying this complex disease.
Aim: To compare polygenic risk scores for hormones and receptors levels in a case-control study to investigate their role in vulvodynia and their correlation with clinical phenotypes.
Methods: Our case-control study included patients with vestibulodynia (VBD) and healthy women.
Cancers (Basel)
January 2025
Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, 119991 Moscow, Russia.
Background: Proteasomes degrade intracellular proteins. Different proteasome forms were identified. Proteasome inhibitors are used in cancer therapy, and novel drugs directed to specific proteasome forms are developed.
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