Cited by 940Genomics and Chromatin DynamicsChromatin Remodeling and CancerGene Regulatory Network Analysis

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Transcriptional Regulatory Elements in the Human Genome

Maston, Glenn A., Evans, Sara K., Green, Michael R.·2006·Annual Review of Genomics and Human Genetics

DOI 10.1146/annurev.genom.7.080505.115623

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Abstract

The faithful execution of biological processes requires a precise and carefully orchestrated set of steps that depend on the proper spatial and temporal expression of genes. Here we review the various classes of transcriptional regulatory elements (core promoters, proximal promoters, distal enhancers, silencers, insulators/boundary elements, and locus control regions) and the molecular machinery (general transcription factors, activators, and coactivators) that interacts with the regulatory elements to mediate precisely controlled patterns of gene expression. The biological importance of transcriptional regulation is highlighted by examples of how alterations in these transcriptional components can lead to disease. Finally, we discuss the methods currently used to identify transcriptional regulatory elements, and the ability of these methods to be scaled up for the purpose of annotating the entire human genome.

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BackgroundInfluential
Identification of 2 Novel Polymorphisms and rs3138521 in 5′ Untranslated Region of SERPINC1 Gene in North Indian Population With Deep Vein Thrombosis
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“Variations in the promoter region are a known putative cause of diseases such as b-thalassemia, hemophilia, bladder cancer, and familial hypercholesterolemia.(14,15) Although more than 250 mutations and polymorphisms spanning the introns, exons, and flanking regions in SERPINC1 gene causing DVT are known, only a singl…”
Background

Authors: Maston, G. A., Evans, S. K., & Green, M. R.
Affiliations: Howard Hughes Medical Institute (US)
ORCID: Maston, Glenn A.
Evans, Sara K.
Green, Michael R.
Venue: Annual Review of Genomics and Human Genetics
Publisher: Annual Reviews
Published: 2006-09-01
Volume: 7
Issue: 1
Pages: 29-59
ISSN: 1527-8204 (ISSN-L)
1545-293X
DOI: 10.1146/annurev.genom.7.080505.115623
OpenAlex: W2159164310
Cited by: 937
References: 202
Citations by year: 2026: 18 · 2025: 45 · 2024: 45 · 2023: 39 · 2022: 51 · 2021: 57 · 2020: 57 · 2019: 55 · 2018: 55 · 2017: 45 · 2016: 51 · 2015: 59 · 2014: 61 · 2013: 72 · 2012: 54
FWCI: 2.53
Type: journal article
Language: en
Open access: closed
Locations: Annual Review of Genomics and Human Genetics (publishedVersion)
PubMed (publishedVersion)
Funders: National Human Genome Research Institute
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Gene Regulatory Network Analysis
Keywords: transcriptional regulatory elements, core promoter, proximal promoter, distal enhancers, silencers, insulators, locus control region, general transcription factors, transcriptional activator, transcriptional coactivator, gene expression regulation, human genome annotation
MeSH terms: Gene Expression Regulation, Humans, Transcription Factors, Genome, Human, Regulatory Elements, Transcriptional

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Transcriptional Regulatory Elements in the Human Genome

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