Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions
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Summary
The results demonstrate the functional importance of TADs for orchestrating gene expression via genome architecture and indicate criteria for predicting the pathogenicity of human structural variants, particularly in non-coding regions of the human genome.
- Type
- article
- Published
- 2015-05-07
- Cited by
- 1,980
- References
- 37
- Access
- Open access
- OpenAlex
- https://openalex.org/W1859117663
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:15754842
Keywords
Biology, Enhancer, Chromatin, Genetics, Computational biology
References
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- Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog
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- A large duplication involving the IHH locus mimics acrocallosal syndrome
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- Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36
- Ectodermal Wnt6 is an early negative regulator of limb chondrogenesis in the chicken embryo
Cited by
- A CRISPR Connection between Chromatin Topology and Genetic Disorders
- Disruption of the 3D cancer genome blueprint.
- Higher order assembly: folding the chromosome.
- CCCTC-binding factor is essential to the maintenance and quiescence of hematopoietic stem cells in mice
- The three-dimensional genome: regulating gene expression during pluripotency and development
- Dynamics of transcriptional enhancers and chromosome topology in gene regulation
- Emerging drug profile: Krebs cycle and cancer: IDH mutations and therapeutic implications
- The potential of CRISPR/Cas9 genome editing for the study and treatment of intervertebral disc pathologies
- How subtle changes in 3D structure can create large changes in transcription
- Enhancers in disease: molecular basis and emerging treatment strategies.
- Learning about mammalian gene regulation from functional enhancer assays in the mouse.
- Chromatin Insulators and Topological Domains: Adding New Dimensions to 3D Genome Architecture
- Genome organization: Disorder — from chromatin to limb development
- Architectural Proteins, Transcription, and the Three-dimensional Organization of the Genome
- Modeling chromosomes: beyond pretty pictures
- The identification of cis-regulatory elements: A review from a machine learning perspective
- Non-coding genetic variants in human disease.
- Genetic studies in intellectual disability and related disorders
- HiCPlotter integrates genomic data with interaction matrices
- Structural and Functional Diversity of Topologically Associating Domains
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