Transcriptional Regulation and its Misregulation in Disease

By Tong Ihn Lee, Richard A. Young. Cell, 2013

1,482 citations recorded by the source corpus.

The gene expression programs that establish and maintain specific cell states in humans are controlled by thousands of transcription factors, cofactors and chromatin regulators. Misregulation of these gene expression programs can cause a broad range of diseases. Here we review recent advances in our understanding of transcriptional regulation and discuss how these have provided new insights into transcriptional misregulation in disease.

Subfields: Molecular Biology

View Paper: https://www.semanticscholar.org/paper/e931faa74d8262d9c60404c97156b9d353393888

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Citations in the corpus

The KRAB Domain of ZNF10 Guides the Identification of Specific Amino Acids That Transform the Ancestral KRAB-A-Related Domain Present in Human PRDM9 into a Canonical Modern KRAB-A Domain (2022, background): “Initially, DNA-binding by selective transcription factors specifies the genomic loci to recruit protein complexes that reorganize chromatin into a state non-permissive for transcription [5,6].”
Super-enhancers in the control of cell identity and disease. (2013, neutral): “It is important to further understand enhancers and their components because they control specific gene expression programs, and much disease-associated sequence variation occurs in these regulatory elements (Grossman et al., 2013; Lee and Young, 2013; Maurano et al., 2012).”
Discovery and Characterization of Super-Enhancer Associated Dependencies in Diffuse Large B-Cell Lymphoma (2013, neutral): “Together, these findings underscore the centrality of master regulatory TFs in DLBCL. TFs control cancer cell state by binding proximal (promoter) and distal (enhancer) regulatory elements (Lee and Young, 2013).”
Transcriptional Addiction in Cancer (2017, neutral): “Thus, the control of transcriptional programs that characterize normal differentiated cell states is dominated by these master TFs, which are expressed at high levels in selected cell types, tend to co-occupy most enhancers together with other master TFs, and typically regulate their own genes throu”
Control of cell identity genes occurs in insulated neighborhoods in mammalian chromosomes (2014, neutral): “The structures within TADs include cohesin-associated enhancer-promoter loops that are produced when enhancer-bound TFs bind cofactors such as Mediator that, in turn, bind RNA polymerase II at promoter sites (Lee and Young, 2013; Lelli et al., 2012; Roeder, 2005; Spitz and Furlong, 2012).”
The Human Transcription Factors. (2018, neutral): “Many function as ‘‘master regulators’’ and ‘‘selector genes’’, exerting control over processes that specify cell types and developmental patterning (Lee and Young, 2013) and controlling specific pathways such as immune responses (Singh et al., 2014).”
Predicting the sequence specificities of DNA- and RNA-binding proteins by deep learning (2015, background): “Genetic variants that create or abrogate binding sites can alter gene expression patterns and potentially lead to disease 33 .”
hTFtarget: A Comprehensive Database for Regulations of Human Transcription Factors and Their Targets (2019, background): “The disorder of TF–target regulation can disrupt normal biological processes, which may result in severe damage and diseases [4].”
PLIP 2021: expanding the scope of the protein–ligand interaction profiler to DNA and RNA (2021, background): “Transcription, the synthesis of RNA from a DNA template, is one of the most important steps in the control of cell growth and differentiation (24,25).”
Reconstructing and reprogramming the tumor propagating potential of glioblastoma stem-like cells (2014, neutral): “These TFs bind and activate cisregulatory elements that modulate transcription and thereby direct cell-type-specific gene expression programs (Lee and Young, 2013).”
Cistrome Data Browser: a data portal for ChIP-Seq and chromatin accessibility data in human and mouse (2016, background): “Transcriptional regulation is a complex process, which is controlled by hundreds of TFs, cofactors and chromatin regulators (27).”