Human specific endogenous retrovirus H (HERVH) is highly expressed in both naive and primed stem cells and is essential for pluripotency. Despite the proven relationship between HERVH expression and pluripotency, there is no single definitive model for the function of HERVH. Instead, several hypotheses of a regulatory function have been put forward including HERVH acting as enhancers, long noncoding RNAs (lncRNAs), and most recently as markers of topologically associating domain (TAD) boundaries. Recently several enhancer-associated lncRNAs have been characterized, which bind to Mediator and are necessary for promoter-enhancer folding interactions. We propose a synergistic model of HERVH function combining relevant findings and discuss the current limitations for its role in regulation, including the lack of evidence for a pluripotency-associated target gene.
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http://dx.doi.org/10.1016/j.tig.2021.07.007 | DOI Listing |
Int J Mol Sci
December 2024
Krantz Family Center for Cancer Research, Massachusetts General Hospital, Charlestown, MA 02114, USA.
The pluripotent stem cell (PSC)-derived human primordial germ cell-like cells (PGCLCs) are a cell culture-derived surrogate model of embryonic primordial germ cells. Upon differentiation of PSCs to PGCLCs, multiple loci of HML-2, the hominoid-specific human endogenous retrovirus (HERV), are strongly activated, which is necessary for PSC differentiation to PGCLCs. In PSCs, strongly activated loci of HERV-H family HERVs create chromatin contacts, which are required for the pluripotency.
View Article and Find Full Text PDFMicrobes Infect
December 2024
Division of Infectious Diseases, Department of Medicine, Weill Cornell Medicine, New York, NY, USA. Electronic address:
Cystic fibrosis (CF) is an autosomal recessive genetic disorder characterized by impairment of the CF transmembrane conductance regulator (CFTR) via gene mutation. CFTR is expressed at the cellular membrane of epithelial cells and functions as an anion pump which maintains water and salt ion homeostasis. In pulmonary airways of CF patients, pathogens such as P.
View Article and Find Full Text PDFViruses
October 2024
Pediatric Laboratory, Department of Public Health and Pediatric Sciences, University of Turin, Regina Margherita Children's Hospital, Piazza Polonia 94, 10126 Turin, Italy.
Sci Rep
October 2024
College of Artificial Intelligence, Nankai University, Tianjin, 300350, China.
Hutchinson-Gilfor progeria syndrome (HGPS) is caused by a mutation in Lamin A resulting in the production of a protein called progerin. The accumulation of progerin induces inflammation, cellular senescence and activation of the P53 pathway. In this study, through public dataset analysis, we identified Syntaxin Binding Protein 5 (STXBP5) as an influencing factor of progerin expression.
View Article and Find Full Text PDFHuman endogenous retroviruses (HERVs) are retroviral sequences integrated into 8% of the human genome resulting from ancient exogenous retroviral infections. Unlike endogenous retroviruses of other mammalian species, HERVs are mostly replication and retro-transposition defective, and their transcription is strictly regulated by epigenetic mechanisms in normal cells. A significant addition to the growing body of research reveals that HERVs' aberrant activation is often associated with offsetting diseases like autoimmunity, neurodegenerative diseases, cancers, and chemoresistance.
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