Cited by 610Genomics and Chromatin DynamicsGenetic Associations and EpidemiologyCancer-related molecular mechanisms research

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Genomic views of distant-acting enhancers

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Visel, Axel, Rubin, Edward M., Pennacchio, Len A.·2009·Nature

DOI 10.1038/nature08451PMC PMC2923221

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Abstract

In contrast to protein-coding sequences, the significance of variation in non-coding DNA in human disease has been minimally explored. A great number of recent genome-wide association studies suggest that non-coding variation is a significant risk factor for common disorders, but the mechanisms by which this variation contributes to disease remain largely obscure. Distant-acting transcriptional enhancers--a major category of functional non-coding DNA--are involved in many developmental and disease-relevant processes. Genome-wide approaches to their discovery and functional characterization are now available and provide a growing knowledge base for the systematic exploration of their role in human biology and disease susceptibility.

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“However, some observations have challenged such a generalized correlation between sequence conservation and enhancer activity: (1) experimental analysis of individual loci suggested that a large proportion of enhancers cannot be detected by comparative genomics 56, (2) a surprisingly large fraction of sequences in the…”
Background
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Authors: Visel, A., Rubin, E. M., & Pennacchio, L. A.
Affiliations: Lawrence Berkeley National Laboratory (US)
ORCID: Visel, Axel
Rubin, Edward M.
Pennacchio, Len A.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2009-09
Volume: 461
Issue: 7261
Pages: 199-205
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature08451
PMC: PMC2923221
OpenAlex: W2048263136
Cited by: 610
References: 123
Citations by year: 2026: 8 · 2025: 18 · 2024: 16 · 2023: 26 · 2022: 37 · 2021: 30 · 2020: 36 · 2019: 39 · 2018: 30 · 2017: 34 · 2016: 39 · 2015: 49 · 2014: 48 · 2013: 49 · 2012: 55
FWCI: 3.85
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
RePEc: Research Papers in Economics (submittedVersion)
eScholarship (California Digital Library) (submittedVersion)
Funders: National Heart, Lung, and Blood Institute (R21HL098940, U01HL066681)
National Human Genome Research Institute (R01HG003988)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer-related molecular mechanisms research
Keywords: enhancers, enhancer function, genome-wide association study, disease susceptibility, human disease genetics
MeSH terms: Animals, Enhancer Elements, Genetic, Gene Expression Regulation, Humans, Genome, Human, Evolution, Molecular, Genetic Predisposition to Disease, Genomics

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