The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

L. J. Valentijn; P. A. Bolhuis; I. Zorn; J. E. Hoogendijk; N. van den Bosch; G. W. Hensels; V. P. Stanton; D. E. Housman; K. H. Fischbeck; D. A. Ross; G. A. Nicholson; E. J. Meershoek; H. G. Dauwerse; G. J. B. van Ommen; F. Baas

doi:https://doi.org/10.1038/ng0692-166

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

L. J. Valentijn, P. A. Bolhuis, I. Zorn, J. E. Hoogendijk, N. van den Bosch, G. W. Hensels, V. P. Stanton, D. E. Housman, K. H. Fischbeck, D. A. Ross, G. A. Nicholson, E. J. Meershoek, H. G. Dauwerse, G. J. B. van Ommen, F. Baas

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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

Original language	English
Pages (from-to)	166-170
Journal	Nature Genetics
Volume	1
Issue number	3
DOIs	https://doi.org/10.1038/ng0692-166
Publication status	Published - 1992

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Valentijn, L. J., Bolhuis, P. A., Zorn, I., Hoogendijk, J. E., van den Bosch, N., Hensels, G. W., Stanton, V. P., Housman, D. E., Fischbeck, K. H., Ross, D. A., Nicholson, G. A., Meershoek, E. J., Dauwerse, H. G., van Ommen, G. J. B., & Baas, F. (1992). The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nature Genetics, 1(3), 166-170. https://doi.org/10.1038/ng0692-166

@article{de2851171a4d4193908eed6668ec1ddc,

title = "The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A",

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",

author = "Valentijn, {L. J.} and Bolhuis, {P. A.} and I. Zorn and Hoogendijk, {J. E.} and {van den Bosch}, N. and Hensels, {G. W.} and Stanton, {V. P.} and Housman, {D. E.} and Fischbeck, {K. H.} and Ross, {D. A.} and Nicholson, {G. A.} and Meershoek, {E. J.} and Dauwerse, {H. G.} and {van Ommen}, {G. J. B.} and F. Baas",

year = "1992",

doi = "https://doi.org/10.1038/ng0692-166",

language = "English",

volume = "1",

pages = "166--170",

journal = "Nature Genetics",

issn = "1061-4036",

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Valentijn, LJ, Bolhuis, PA, Zorn, I, Hoogendijk, JE, van den Bosch, N, Hensels, GW, Stanton, VP, Housman, DE, Fischbeck, KH, Ross, DA, Nicholson, GA, Meershoek, EJ, Dauwerse, HG, van Ommen, GJB & Baas, F 1992, 'The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A', Nature Genetics, vol. 1, no. 3, pp. 166-170. https://doi.org/10.1038/ng0692-166

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T1 - The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

AU - Valentijn, L. J.

AU - Bolhuis, P. A.

AU - Zorn, I.

AU - Hoogendijk, J. E.

AU - van den Bosch, N.

AU - Hensels, G. W.

AU - Stanton, V. P.

AU - Housman, D. E.

AU - Fischbeck, K. H.

AU - Ross, D. A.

AU - Nicholson, G. A.

AU - Meershoek, E. J.

AU - Dauwerse, H. G.

AU - van Ommen, G. J. B.

AU - Baas, F.

PY - 1992

Y1 - 1992

N2 - 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

AB - 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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