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Disrupting the transmembrane domain interface between PMP22 and MPZ causes peripheral neuropathy
Open accessPreprint — published as 10.1016/j.isci.2024.110989
Abstract
PMP22 and MPZ are abundant myelin membrane proteins in Schwann cells. The MPZ adhesion protein holds myelin wraps together across the intraperiod line. PMP22 is a tetraspan protein belonging to the Claudin superfamily. Loss of either MPZ or PMP22 causes severe demyelinating Charcot-Marie-Tooth (CMT) peripheral neuropathy, and duplication of PMP22 causes the most common form of CMT, CMT1A. Yet, the molecular functions provided by PMP22 and how its alteration causes CMT are unknown. Here we find MPZ and PMP22 form a specific complex through interfaces within their transmembrane domains. We also find that the PMP22 A67T patient variant that causes a loss-of-function (Hereditary Neuropathy with Pressure Palsies) phenotype maps to this interface, and blocks MPZ association without affecting localization to the plasma membrane or interactions with other proteins. These data define the molecular basis for the MPZ~PMP22 interaction and indicate this complex fulfills an important function in myelinating cells.
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Highly accurate protein structure prediction with AlphaFold
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Metadata
- Authors
- Pashkova, N., Peterson, T. A., Ptak, C. P., Winistorfer, S. C., Guerrero-Given, D., Kamasawa, N., Ahern, C. A., Shy, M. E., & Piper, R. C.
- Affiliations
- University of Iowa (US)
- Max Planck Florida Institute for Neuroscience (US)
- Corresponding author
- Piper, Robert C.
- ORCID
- Venue
- iScience
- Publisher
- openRxiv
- Published
- 2023-12-24
- Volume
- 27
- Issue
- 11
- Pages
- 110989-110989
- ISSN
- 2589-0042 (ISSN-L)
- PMC
- PMC11700639
- OpenAlex
- W4402636124
- Cited by
- 15
- References
- 1
- Citations by year
- 2026: 5 · 2025: 8 · 2024: 2
- FWCI
- 2.62
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by-nc-nd
- www.biorxiv.org/about/FAQ#license (vor)
- Locations
- iScience (publishedVersion, cc-by-nc-nd)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- PubMed Central (submittedVersion)
- Funders
- Roy J. Carver Charitable Trust (U54NS065712, NIH-R01 GM106568)
- University of Iowa
- National Institutes of Health (1s10od034193-01, R01 GM106568, 1s10od016199-01a1)
- Roy J. and Lucille A. Carver College of Medicine, University of Iowa
- National Institute of Mental Health (R01MH106568)
- National Institute of General Medical Sciences (RO1GM058202, R01GM058202)
- National Institute of Neurological Disorders and Stroke (U54NS065712)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Health Sciences › Medicine › Clinical Neurology › Peripheral Neuropathies and Disorders
- Health Sciences › Medicine › Clinical Neurology › Neurofibromatosis and Schwannoma Cases
- Keywords
- PMP22, myelin protein zero, protein-protein complex, peripheral neuropathy, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1A, PMP22 duplication, tetraspanins, myelination, Schwann cells, demyelination
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