ArticleHuman molecular genetics2012
Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 39 citations in OpenAlex.
- A New Phenotype-Genotype Correlation for FIG4 and Parkinson's Disease.Movement disorders clinical practice · 2026Article
- Modeling of Charcot-Marie-Tooth disease in zebrafish.Frontiers in molecular neuroscience · 2025Review
- Disease Modeling of Rare Neurological Disorders in Zebrafish.International journal of molecular sciences · 2022Review
- Mechanisms and Treatments in Demyelinating CMT.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves.Human molecular genetics · 2020Article
- Regulating PMP22 expression as a dosage sensitive neuropathy gene.Brain research · 2020Review
- Insights Into the Role and Potential of Schwann Cells for Peripheral Nerve Repair From Studies of Development and Injury.Frontiers in molecular neuroscience · 2020Article
- A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy).Scientific reports · 2019Article
- Regulation of the neuropathy-associated Pmp22 gene by a distal super-enhancer.Human molecular genetics · 2018Article
- Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.Molecular genetics & genomic medicine · 2018Review
- Genome-Edited Cell Lines for High-Throughput Screening.Methods in molecular biology (Clifton, N.J.) · 2018Article
- Dual specificity phosphatase 15 regulates Erk activation in Schwann cells.Journal of neurochemistry · 2017Article
- Stringent comparative sequence analysis reveals SOX10 as a putative inhibitor of glial cell differentiation.BMC genomics · 2016Article
- Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development.Human molecular genetics · 2016Article
- YAP and TAZ control peripheral myelination and the expression of laminin receptors in Schwann cells.Nature neuroscience · 2016Article
- Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.PLoS genetics · 2016Article
- Article
- Dynamic regulation of Schwann cell enhancers after peripheral nerve injury.The Journal of biological chemistry · 2015Article
- Genome editing-enabled HTS assays expand drug target pathways for Charcot-Marie-tooth disease.ACS chemical biology · 2014Article
- MicroRNA and transcriptional crosstalk in myelinating glia.Neurochemistry international · 2014Review
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
Myelin insulates axons in the peripheral nervous system to allow rapid propagation of action potentials, and proper myelination requires the precise regulation of genes encoding myelin proteins, including PMP22. The correct gene dosage of PMP22 is critical; a duplication of PMP22 is the most common cause of the peripheral neuropathy Charcot-Marie-Tooth Disease (CMT) (classified as type 1A), while a deletion of PMP22 leads to another peripheral neuropathy, hereditary neuropathy with liability to pressure palsies. Recently, duplications upstream of PMP22, but not containing the gene itself, were reported in patients with CMT1A like symptoms, suggesting that this region contains regulators of PMP22. Using chromatin immunoprecipitation analysis of two transcription factors known to upregulate PMP22-EGR2 and SOX10-we found several enhancers in this upstream region that contain open chromatin and direct reporter gene expression in tissue culture and in vivo in zebrafish. These studies provide a novel means to identify critical regulatory elements in genes that are required for myelination, and elucidate the functional significance of non-coding genomic rearrangements.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.