Regulating PMP22 expression as a dosage sensitive neuropathy gene

Harrison Pantera; Michael E Shy; John Svaren

doi:10.1016/j.brainres.2019.146491

Back

Regulating PMP22 expression as a dosage sensitive neuropathy gene

Journal article

Peer reviewed

Regulating PMP22 expression as a dosage sensitive neuropathy gene

Harrison Pantera, Michael E Shy and John Svaren

Brain research, Vol.1726, pp.146491-146491

01/01/2020

DOI: 10.1016/j.brainres.2019.146491

PMCID: PMC7006452

PMID: 31586623

Files and links (1)

url

https://www.ncbi.nlm.nih.gov/pmc/articles/7006452View

Open Access

Abstract

Structural variation in the human genome has emerged as a major cause of disease as genomic data have accumulated. One of the most common structural variants associated with human disease causes the heritable neuropathy known as Charcot-Marie-Tooth (CMT) disease type 1A. This 1.4 Mb duplication causes nearly half of the CMT cases that are genetically diagnosed. The PMP22 gene is highly induced in Schwann cells during development, although its precise role in myelin formation and homeostasis is still under active investigation. The PMP22 gene can be considered as a nucleoprotein complex with enzymatic activity to produce the PMP22 transcript, and the complex is allosterically regulated by transcription factors that respond to intracellular signals and epigenomic modifications. The control of PMP22 transcript levels has been one of the major therapeutic targets of therapy development, and this review summarizes those approaches as well as efforts to characterize the regulation of the PMP22 gene.

Signal Transduction

Animals

Humans

Gene Expression Regulation

Gene Dosage

Schwann Cells - metabolism

Myelin Proteins - genetics

Charcot-Marie-Tooth Disease - genetics

Details

Title: Subtitle: Regulating PMP22 expression as a dosage sensitive neuropathy gene
Creators: Harrison Pantera - Molecular and Cellular Pharmacology Training Program, University of Wisconsin, Madison, WI, USA
Michael E Shy - Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA, USA
John Svaren - Waisman Center and Department of Comparative Biosciences, University of Wisconsin, Madison, WI, USA. Electronic address: john.svaren@wisc.edu
Resource Type: Journal article
Publication Details: Brain research, Vol.1726, pp.146491-146491
DOI: 10.1016/j.brainres.2019.146491
PMID: 31586623
PMCID: PMC7006452
NLM abbreviation: Brain Res
ISSN: 0006-8993
eISSN: 1872-6240
Publisher: Netherlands
Grant note: R01 NS083841 / NINDS NIH HHS
Language: English
Date published: 01/01/2020
Academic Unit: Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
Record Identifier: 9984070363102771

Metrics

23 Record Views

28 Times Cited - Web of Science