The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A (original) (raw)

• Article
• Published: 01 June 1992
• P. A. Bolhuis1,
• I. Zorn1,
• J. E. Hoogendijk1,
• N. van den Bosch1,
• G. W. Hensels1,
• V. P. Stanton Jr.2,
• D. E. Housman2,
• K. H. Fischbeck3,
• D. A. Ross4,
• G. A. Nicholson4,
• E. J. Meershoek5,
• H. G. Dauwerse5,
• G. -J. B. van Ommen5 &
• …
• F. Baas1

Nature Genetics volume 1, pages 166–170 (1992)Cite this article

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Abstract

Charcot–Marie–Tooth disease type 1A (CMT1A) is associated with a DNA duplication at chromosome 17p11.2. In view of the point mutation in the gene for peripheral myelin protein pmp–22/gas–3 in Trembler mice, a murine model for CMT1A, we have analysed whether this gene is altered in CMT1A. Here we show that the human homologue of the murine pmp–22 gene is located within the CMT1A DNA duplication, which is a direct repeat and does not interrupt the coding region of PMP–22. Expression of PMP–22 in CMT1A fibroblasts is similar to expression in control fibroblasts. Increased gene dosage or altered PMP–22 expression in the peripheral nervous system are therefore possible mechanisms by which PMP–22 is involved in CMT1A.

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References

1. Hoogendijk, J.E. & DeVisser, M. In Handbook of Clinical Neurology. Hereditary Neuropathies and Spinocerbellar Atrophies (eds Vinken, P.J. et al.) vol 60 (Elsevier, Amsterdam, 1991).
   Google Scholar
2. Vance, J.M. et al. Genomics 9, 623–628 (1991).
   Article CAS Google Scholar
3. Bird, T.D., Ott, J. & Giblett, E.R. Am. J. hum. Genet. 34, 388–394 (1982).
   CAS PubMed PubMed Central Google Scholar
4. Lebo, V.L. et al. Hum. Genet. 88, 1–12 (1991).
   Article CAS Google Scholar
5. Lupski, J.R. et al. Cell 66, 219–232 (1991).
   Article CAS Google Scholar
6. Raeymaekers, P. et al. Neuromusc. Disorders 1, 93–97 (1991).
   Article CAS Google Scholar
7. Hoogendijk, J.E. et al. Hum. Genet. 88, 215–218 (1991).
   Article CAS Google Scholar
8. Raeymaeckers, P. et al. J. med. Genet. 29, 5–11 (1992).
   Article Google Scholar
9. Hoogendijk, J.E. et al. Lancet 339, 1081–1082 (1992).
   Article CAS Google Scholar
10. Suter, U. et al. Nature 356, 241–244 (1992).
    Article CAS Google Scholar
11. Schneider, C., King, R.M. & Philipson, L. Cell 54, 787–793 (1988).
    Article CAS Google Scholar
12. Manfioletti, G., Ruaro, M.E., Del Sal, G., Philipson, L. & Schneider, C. Molec. Cell Biol. 10, 2924–2930 (1990).
    Article CAS Google Scholar
13. 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).
    Article CAS Google Scholar
14. Spreyer, P. et al. EMBO J. 10, 3661–3668 (1991).
    Article CAS Google Scholar
15. Hulsebos, T.J.M. et al. Cytogenet. cell. Genet. 56, 171–175 (1991).
    Article CAS Google Scholar
16. Lupski, J.R. et al. Nature Genet. 1, (1992).
17. Falconer, D.S. J. Genet. 50, 192–201 (1951).
    Article CAS Google Scholar
18. Talbot, D. et al. Nature 338, 352–355 (1989).
    Article CAS Google Scholar
19. Defesche, J.C. et al. Neurology 40, 1450–1453 (1991).
    Article Google Scholar
20. Baas, F., Bikker, H., van Ommen, G.B.J. & de Vijlder, J.M. Hum. Genet. 67, 301–304 (1984).
    Article CAS Google Scholar
21. Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular Cloning. A Laboratory Manual 2nd edn (Cold Spring Harbor Labatory Press, New York, 1989).
    Google Scholar
22. Albertsen, H.M. et al. Proc. natn. Acad. Sci. U.S.A. 87, 4256–4260 (1990).
    Article CAS Google Scholar
23. Sherman, F., Flink, G.R. & Hicks, J.B. Methods in Yeast Genetics (Cold Spring Harbor Labatory Press, New York, 1986).
    Google Scholar
24. Carle, G.F. & Olsen, M.V. Nucleic Acids Res. 12, 5647–5664 (1984).
    Article CAS Google Scholar
25. Chu, G., Vollrath, D. & Davis, R.W. Science 234, 1582–1585 (1986).
    Article CAS Google Scholar
26. Dauwerse, J.G. et al. Blood 79 (in the press).

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Authors and Affiliations

1. Department of Neurology K2-206, Academical Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
   L. J. Valentijn, P. A. Bolhuis, I. Zorn, J. E. Hoogendijk, N. van den Bosch, G. W. Hensels & F. Baas
2. Massachusetts Institute of Technology, Center for Cancer Research, 77 Massachusetts Avenue, E17-536, Cambridge, Massachusetts, 02139, USA
   V. P. Stanton Jr. & D. E. Housman
3. Department of Neurology, University of Pennsylvania, School of Medicine, 422 Curie Boulevard, Philadelphia, Pennsylvania, 19104–6146, USA
   K. H. Fischbeck
4. Department of Medicine, University of Sydney, Clinical Sciences Building, Concord Hospital, Sydney, Australia
   D. A. Ross & G. A. Nicholson
5. Department of Human Genetics, State University Leiden, Sylvius Laboratories, Wassenaarsweg 72, 2333 AL, Leiden, The Netherlands
   E. J. Meershoek, H. G. Dauwerse & G. -J. B. van Ommen

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1. L. J. Valentijn
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2. P. A. Bolhuis
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3. I. Zorn
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4. J. E. Hoogendijk
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5. N. van den Bosch
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6. G. W. Hensels
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7. V. P. Stanton Jr.
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8. D. E. Housman
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9. K. H. Fischbeck
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10. D. A. Ross
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11. G. A. Nicholson
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12. E. J. Meershoek
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13. H. G. Dauwerse
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14. G. -J. B. van Ommen
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15. F. Baas
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Valentijn, L., Bolhuis, P., Zorn, I. et al. The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A.Nat Genet 1, 166–170 (1992). https://doi.org/10.1038/ng0692-166

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• Received: 06 April 1992
• Accepted: 01 May 1992
• Issue Date: 01 June 1992
• DOI: https://doi.org/10.1038/ng0692-166

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