The functional consequences of alternative promoter use in mammalian genomes
Abstract
We are beginning to appreciate the increasing complexity of mammalian gene structure. A phenomenon that adds an important dimension to this complexity is the use of alternative gene promoters that drive widespread cell type, tissue type or developmental gene regulation. Recent annotations of the human genome suggest that almost one half of the protein-coding genes contain alternative promoters, including those of many disease-associated genes. Aberrant use of one promoter over another has been found to be associated with various diseases, including cancer. Here we discuss the functional consequences of use and misuse of alternative promoters in normal and disease genomes and review the molecular mechanisms regulating alternative promoter use in mammalian genomes.
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Almost half of the known protein-coding genes in humans utilize alternative promoters.
“In addition to alternative splicing, almost half of the known protein-coding genes in humans utilize alternative promoters.”
From Genetic Changes Shaping the Human Brain (2015) · cites this paper as Davuluri et al., 2008
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Jpx RNA regulates CTCF anchor site selection and formation of chromosome loops
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- Authors
- Davuluri, R. V., Suzuki, Y., Sugano, S., Plass, C., & Huang, T. H.-M.
- Affiliations
- The Wistar Institute (US)
- The University of Tokyo (JP)
- German Cancer Research Center (DE)
- The Ohio State University (US)
- Corresponding author
- Davuluri, Ramana V.
- Venue
- Trends in Genetics
- Publisher
- Elsevier BV
- Published
- 2008-04
- Volume
- 24
- Issue
- 4
- Pages
- 167-177
- ISSN
- 0168-9525 (ISSN-L)
- OpenAlex
- W2094074349
- Cited by
- 408
- References
- 114
- Citations by year
- 2026: 18 · 2025: 17 · 2024: 19 · 2023: 31 · 2022: 15 · 2021: 32 · 2020: 33 · 2019: 24 · 2018: 20 · 2017: 25 · 2016: 18 · 2015: 18 · 2014: 12 · 2013: 25 · 2012: 22
- FWCI
- 2.00
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Trends in Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Leukemia and Lymphoma Society
- National Human Genome Research Institute (R01HG003362)
- National Cancer Institute (P01CA101956, CA 101956, U54CA113001)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer-related molecular mechanisms research
- Keywords
- alternative splicing, gene expression regulation, disease-associated genes, cancer, tissue-specific gene regulation, developmental gene regulation, human genome annotation
- MeSH terms
- Animals, Humans, Promoter Regions, Genetic, Transcription, Genetic, Genome, Genomic Imprinting, Protein Isoforms, 5' Untranslated Regions
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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