Abstract
Charcot–Marie–Tooth disease 1A (CMT1A) is a hereditary demyelinating peripheral neuropathy, associated with a DNA duplication on chromosome 17p11.2. A related disorder in the mouse, trembler (Tr), maps to mouse chromosome 11 which has syntenic homology to human chromosome 17p. Recently, the peripheral myelin protein–22 (pmp–22) gene was identified as the likely Tr locus. We have constructed a partial yeast artificial chromosome contig spanning the CMT1A gene region and mapped the PMP–22 gene to the duplicated region. These observations further implicate PMP–22 as a candidate gene for CMT1A, and suggest that over–expression of this gene may be one mechanism that produces the CMT1A phenotype.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Dyck, P.J. in Diseases of the Peripheral Nervous System 1609–1630 (Saunders, Philadelphia, 1984).
Harding, A.E. & Thomas, P.K. J. med. Genet. 17, 329–336 (1980).
Bird, T.D., Ott, J. & Giblett, E.R. Am. J. hum. Genet. 34, 388–394 (1982).
Vance, J.M. et al. Exp. Neurol. 104, 186–189 (1989).
Chance, P.F., Bird, T.D., O'Connell, P., Lipe, H., Lalouel, J.M., and Leppert, M. Am. J. hum. Genet. 47, 915–925 (1990).
Gal, A. et al. Hum. Genet. 70, 38–42 (1985).
Lupski, J.R. et al. Cell 66, 219–232 (1991).
Raeymaekers, P. et al. Neuromuscular Disorders 1, 93–97 (1991).
Raeymaekers, P. et al. J. med. Genet. 29, 5–11 (1992).
Falconer, D.S. J. Genet. 50, 192–201 (1951).
Aguayo, A.J., Attiwell, M., Trecarten, J., Perkins, S. & Bray, G.M. Nature 265, 73–75 (1977).
Henry, E.W. & Sidman, R.L. Science 241, 344–346 (1988).
Davisson, M.T. & Roderick, T.H. Cytogenet. cell Genet. 22, 552–557 (1978).
Münke, M. & Francke, U. J. molec. Evol. 25, 134–140 (1987).
Suter, U. et al. Nature 356, 241–244 (1992).
Manfioletti, G., Ruaro, M.E., Del Sal, G., Philipson, L. & Schneider, C. Molec. cell. Biol. 10, 2924–2930 (1990).
Spreyer, P. et al. EMBO J. 10, 3661–3668 (1991).
Welcher, A.A., Suter, U., De Leon, M., Snipes, G.J. & Shooter, E.M., Proc. natn. Acad. Sci. U.S.A. 88, 7195–7199 (1991).
Lebo, R.V. et al. Am. J. hum. Genet. 50, 42–55 (1992).
Chance, P.F. et al. Neurology (in the press).
Lupski, J.R. et al. Nature Genet. 1, 29–33 (1992).
Albertsen, H.M. et al. Proc. natn. Acad. Sci. U.S.A. 87, 4256–4260 (1990).
Green, E.D. & Olson, M.V. Proc. natn. Acad. Sci. U.S.A. 87, 1213–1217 (1990).
Chance, P.F., Matsunami, N., Lensch, M.W., Smith, B. & Bird, T.D. Neurology (in the press).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Matsunami, N., Smith, B., Ballard, L. et al. Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A. Nat Genet 1, 176–179 (1992). https://doi.org/10.1038/ng0692-176
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/ng0692-176
This article is cited by
-
HDAC3 Inhibition Stimulates Myelination in a CMT1A Mouse Model
Molecular Neurobiology (2022)
-
A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34–q36.2
Human Genetics (2016)
-
Genetik der Neuropathien
Der Nervenarzt (2013)
-
Behavioral and Molecular Exploration of the AR-CMT2A Mouse Model Lmna R298C/R298C
NeuroMolecular Medicine (2012)
-
Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease
European Journal of Human Genetics (2010)