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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Additional file 5 of Endogenous feline leukemia virus long terminal repeat integration site diversity is highly variable in related and unrelated domestic cats
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Additional file 2 of Endogenous feline leukemia virus long terminal repeat integration site diversity is highly variable in related and unrelated domestic cats
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Additional file 6 of Endogenous feline leukemia virus long terminal repeat integration site diversity is highly variable in related and unrelated domestic cats
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Additional file 9 of Endogenous feline leukemia virus long terminal repeat integration site diversity is highly variable in related and unrelated domestic cats
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Additional file 1 of Comprehensive enhancer-target gene assignments improve gene set level interpretation of genome-wide regulatory data
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Additional file 8 of Endogenous feline leukemia virus long terminal repeat integration site diversity is highly variable in related and unrelated domestic cats
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Additional file 1 of A holistic view of mouse enhancer architectures reveals analogous pleiotropic effects and correlation with human disease
Sethi, S., Vorontsov, I. E., Kulakovskiy, I. V., Greenaway, S., Williams, J., Vsevolod, M., Brown, S. D. M., Simon, M. M., & Mallon, A.-M. (2020) · Figshare · doi:10.6084/m9.figshare.13181407
Additional file 4 of Endogenous feline leukemia virus long terminal repeat integration site diversity is highly variable in related and unrelated domestic cats
Chiu, E. S., McDonald, C. A., Gagne, R. B., Dunkleberger, H., Moxcey, M., & VandeWoude, S. (2024) · Figshare · doi:10.6084/m9.figshare.26680172
Additional file 3 of Endogenous feline leukemia virus long terminal repeat integration site diversity is highly variable in related and unrelated domestic cats
Chiu, E. S., McDonald, C. A., Gagne, R. B., Dunkleberger, H., Moxcey, M., & VandeWoude, S. (2024) · Figshare · doi:10.6084/m9.figshare.26680169
Additional file 2 of Accurate prediction of functional states of cis-regulatory modules reveals common epigenetic rules in humans and mice
Ni, P., Moe, J., & Su, Z. (2022) · Figshare · doi:10.6084/m9.figshare.21285818
Additional file 7 of Endogenous feline leukemia virus long terminal repeat integration site diversity is highly variable in related and unrelated domestic cats
Chiu, E. S., McDonald, C. A., Gagne, R. B., Dunkleberger, H., Moxcey, M., & VandeWoude, S. (2024) · Figshare · doi:10.6084/m9.figshare.26680181
Additional file 10 of Endogenous feline leukemia virus long terminal repeat integration site diversity is highly variable in related and unrelated domestic cats
Chiu, E. S., McDonald, C. A., Gagne, R. B., Dunkleberger, H., Moxcey, M., & VandeWoude, S. (2024) · Figshare · doi:10.6084/m9.figshare.26680190
Additional file 12 of Endogenous feline leukemia virus long terminal repeat integration site diversity is highly variable in related and unrelated domestic cats
Chiu, E. S., McDonald, C. A., Gagne, R. B., Dunkleberger, H., Moxcey, M., & VandeWoude, S. (2024) · Figshare · doi:10.6084/m9.figshare.26680196
Additional file 2 of Discovering the key genes and important DNA methylation regions in breast cancer
Cao, Y.-N., Li, Q.-Z., Liu, Y.-X., Jin, W., & Hou, R. (2022) · Figshare · doi:10.6084/m9.figshare.18864917
Additional file 11 of Endogenous feline leukemia virus long terminal repeat integration site diversity is highly variable in related and unrelated domestic cats
Chiu, E. S., McDonald, C. A., Gagne, R. B., Dunkleberger, H., Moxcey, M., & VandeWoude, S. (2024) · Figshare · doi:10.6084/m9.figshare.26680193
Cis ‐2‐decenoic acid modulates Pseudomonas aeruginosa virulence through a noncanonical transcriptional regulator
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“Transcription factors (TFs) can bind to speci ﬁ c DNA sequences and control gene transcription initiation activity 42 .”
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Guo, M., Chen, L., Deng, S., Zhang, J., Hu, Z., Wang, W., Songyang, Z., & Xiong, Y. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.01.08.698306
Precision CRISPR annotation of the functional enhancer landscape in primary human T cellsPreprint
Wang, P., Giles, J. R., Huang, H., Manne, S., Jordan, M. S., Huang, A. C. C., Shi, J., & Wherry, E. J. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.01.27.702006
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Li, X. (2026) · Journal of Computer Science and Frontier Technologies · doi:10.63313/jcsft.9056
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Aissat, A. (2012) · theses.fr (ABES) · doi:10.70675/5b1bcfaez5daaz41c0z8af2zbd48e8dfc67b
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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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