Crossed wires: 3D genome misfolding in human disease
Open accessAbstract
Mammalian genomes are folded into unique topological structures that undergo precise spatiotemporal restructuring during healthy development. Here, we highlight recent advances in our understanding of how the genome folds inside the 3D nucleus and how these folding patterns are miswired during the onset and progression of mammalian disease states. We discuss potential mechanisms underlying the link among genome misfolding, genome dysregulation, and aberrant cellular phenotypes. We also discuss cases in which the endogenous 3D genome configurations in healthy cells might be particularly susceptible to mutation or translocation. Together, these data support an emerging model in which genome folding and misfolding is critically linked to the onset and progression of a broad range of human diseases.
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Genome misfolding has been reported in fragile X syndrome, the leading monogenic cause of ASD, as well as other human diseases.
“Genome misfolding has been reported in fragile X syndrome48, the leading monogenic cause of ASD, as well as other human diseases49”
From Three-dimensional genome restructuring across timescales of activity-induced neuronal gene expression (2020) · cites this paper as [49]
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Statistical Physics of TAD Structures on Hi-C Data at Several Length ScalesPreprint
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- Authors
- Norton, H. K., & Phillips-Cremins, J. E.
- Affiliations
- University of Pennsylvania (US)
- Department of Bioengineering, University of Pennsylvania, Philadelphia, PA 1
- Venue
- Journal of Cell Biology
- Publisher
- Rockefeller University Press
- Published
- 2017-08-30
- Volume
- 216
- Issue
- 11
- Pages
- 3441-3452
- ISSN
- 0021-9525 (ISSN-L)
- 1540-8140
- PMC
- PMC5674879
- OpenAlex
- W2752897074
- Cited by
- 57
- References
- 130
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 7 · 2023: 3 · 2022: 9 · 2021: 11 · 2020: 7 · 2019: 6 · 2018: 6 · 2017: 3
- FWCI
- 0.56
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- The Journal of Cell Biology (publishedVersion, cc-by-nc-sa)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-sa)
- PubMed Central (publishedVersion, cc-by-nc-sa)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- New York Stem Cell Foundation
- Alfred P. Sloan Foundation
- National Institute of Mental Health
- 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
- 3D genome organization, chromatin folding, nuclear organization, human disease, chromosomal translocation, chromatin topology, mammalian development
- MeSH terms
- CCCTC-Binding Factor, Animals, Cell Nucleus, Chromosomes, Human, Enhancer Elements, Genetic, Humans, Mutation, Neoplasms, Nucleic Acid Conformation, Phenotype, Promoter Regions, Genetic, Protein Binding, Genome, Human, Gene Expression Regulation, Neoplastic, Zinc Fingers, Gene Deletion, Genetic Predisposition to Disease
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