Functional implications of genome topology
Open accessAbstract
Although genomes are defined by their sequence, the linear arrangement of nucleotides is only their most basic feature. A fundamental property of genomes is their topological organization in three-dimensional space in the intact cell nucleus. The application of imaging methods and genome-wide biochemical approaches, combined with functional data, is revealing the precise nature of genome topology and its regulatory functions in gene expression and genome maintenance. The emerging picture is one of extensive self-enforcing feedback between activity and spatial organization of the genome, suggestive of a self-organizing and self-perpetuating system that uses epigenetic dynamics to regulate genome function in response to regulatory cues and to propagate cell-fate memory.
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The proper topological structure of chromatin is essential in gene expression and genome maintenance.
“The proper topological structure of chromatin is essential in gene expression and genome maintenance (55).”
From Epigenetic Modifications in Stress Response Genes Associated With Childhood Trauma (2019) · cites this paper as [55]
The Abstract describes regulatory roles for genome topology in both gene expression and genome maintenance, and the “DNA repair and translocations” section explains how chromatin organization affects repair. But “A function-structure-function model of the genome” says topology often modulates rather than determines function and that precise spatial positioning is not an absolute requirement. Calling proper topology “essential” overstates the source. (LLM, conf=0.85)
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Control of cell identity genes occurs in insulated neighborhoods in mammalian chromosomes
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Cajal bodies are linked to genome conformation
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- Authors
- Cavalli, G., & Misteli, T.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- National Institutes of Health (US)
- Corresponding author
- Cavalli, Giacomo
- Misteli, Tom
- Venue
- Nature Structural & Molecular Biology
- Published
- 2013-03
- Volume
- 20
- Issue
- 3
- Pages
- 290-299
- ISSN
- 1545-9985 (ISSN-L)
- 1545-9993
- PMC
- PMC6320674
- OpenAlex
- W2036663020
- Cited by
- 415
- References
- 136
- Citations by year
- 2026: 13 · 2025: 10 · 2024: 18 · 2023: 11 · 2022: 22 · 2021: 30 · 2020: 26 · 2019: 32 · 2018: 37 · 2017: 37 · 2016: 58 · 2015: 53 · 2014: 47 · 2013: 21
- FWCI
- 5.61
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Nature Structural & Molecular Biology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion)
- Funders
- National Institutes of Health
- National Cancer Institute (ZIABC010309)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Keywords
- genome topology, 3D genome organization, nuclear organization, gene expression regulation, genome maintenance, epigenetic dynamics, self-organization, chromatin organization
- MeSH terms
- Cell Nucleus, Chromatin, DNA Repair, DNA Replication, Gene Expression Regulation, Models, Molecular, Transcription, Genetic, Genome, Epigenesis, Genetic
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