PMP22 gene expression

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R-HSA-9615626
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Reaction [omitted]
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Homo sapiens
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The PMP22 gene encodes a peripheral myelin protein that is a component of the myelin sheath surrounding axons in the peripheral nervous system (reviewed in Garbay et al, 2000; Svaren and Meijer, 2008). Point mutations and duplications in the PMP22 gene cause the most prevalent form of the demyelinating peripheral neuropathy, Charcot-Marie-Tooth disease, while deletions lead to Hereditary Neuropathy with liability to Pressure Palsies (HNPP) (reviewed in van Passsen et al, 2014). PMP22 expression is controlled by a number of upstream and intronic enhancer elements that are bound by EGR2 and SOX10, master regulators of peripheral nerve myelination (Nagarajan et al, 2001; Maier et al, 2002; Maier et al, 2003; Jones et al, 2011; Jones et al, 2012; Srinivasan et al, 2012). In addition, PMP22 enhancers contain binding sites for the Hippo pathway transcription factor TEAD1, and TEAD1 and co-activators WWTR1 (also known as TAZ) and YAP1 are required for PMP22 expression (Lopez-Anido et al, 2016).

Literature References
PubMed ID Title Journal Year
27288457 Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development

Lopez-Anido, C, Poitelon, Y, Gopinath, C, Moran, JJ, Ma, KH, Law, WD, Antonellis, A, Feltri, ML, Svaren, J

Hum. Mol. Genet. 2016
24646194 PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

van Paassen, BW, van der Kooi, AJ, van Spaendonck-Zwarts, KY, Verhamme, C, Baas, F, de Visser, M

Orphanet J Rare Dis 2014
21411665 Regulation of the PMP22 gene through an intronic enhancer

Jones, EA, Lopez-Anido, C, Srinivasan, R, Krueger, C, Chang, LW, Nagarajan, R, Svaren, J

J. Neurosci. 2011
22492709 Genome-wide analysis of EGR2/SOX10 binding in myelinating peripheral nerve

Srinivasan, R, Sun, G, Keles, S, Jones, EA, Jang, SW, Krueger, C, Moran, JJ, Svaren, J

Nucleic Acids Res. 2012
12056842 Identification of the regulatory region of the peripheral myelin protein 22 (PMP22) gene that directs temporal and spatial expression in development and regeneration of peripheral nerves

Maier, M, Berger, P, Nave, KA, Suter, U

Mol. Cell. Neurosci. 2002
10727776 Myelin synthesis in the peripheral nervous system

Garbay, B, Heape, AM, Sargueil, F, Cassagne, C

Prog. Neurobiol. 2000
14664827 Distinct elements of the peripheral myelin protein 22 (PMP22) promoter regulate expression in Schwann cells and sensory neurons

Maier, M, Castagner, F, Berger, P, Suter, U

Mol. Cell. Neurosci. 2003
22180461 Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22

Jones, EA, Brewer, MH, Srinivasan, R, Krueger, C, Sun, G, Charney, KN, Keles, S, Antonellis, A, Svaren, J

Hum. Mol. Genet. 2012
11394999 EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression

Nagarajan, R, Svaren, J, Le, N, Araki, T, Watson, M, Milbrandt, J

Neuron 2001
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