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

doi: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

Neurology & Neurosurgery

Research output: Contribution to journal › Article › Academic › peer-review

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)	166-70
Number of pages	5
Journal	Nature Genetics
Volume	1
Issue number	3
DOIs	https://doi.org/10.1038/ng0692-166
Publication status	Published - Jun 1992

Keywords

Base Sequence
Charcot-Marie-Tooth Disease
DNA
Gene Expression
Humans
Molecular Sequence Data
Multigene Family
Myelin Proteins
Polymerase Chain Reaction
Repetitive Sequences, Nucleic Acid
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Access to Document

10.1038/ng0692-166

Cite this

@article{ad27a24bf46e42fb80f88a37e797960e,

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.",

keywords = "Base Sequence, Charcot-Marie-Tooth Disease, DNA, Gene Expression, Humans, Molecular Sequence Data, Multigene Family, Myelin Proteins, Polymerase Chain Reaction, Repetitive Sequences, Nucleic Acid, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.",

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}",

year = "1992",

month = jun,

doi = "10.1038/ng0692-166",

language = "English",

volume = "1",

pages = "166--70",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

number = "3",

}

TY - JOUR

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

PY - 1992/6

Y1 - 1992/6

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.

KW - Base Sequence

KW - Charcot-Marie-Tooth Disease

KW - DNA

KW - Gene Expression

KW - Humans

KW - Molecular Sequence Data

KW - Multigene Family

KW - Myelin Proteins

KW - Polymerase Chain Reaction

KW - Repetitive Sequences, Nucleic Acid

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

KW - Research Support, U.S. Gov't, P.H.S.

U2 - 10.1038/ng0692-166

DO - 10.1038/ng0692-166

M3 - Article

C2 - 1303229

SN - 1061-4036

VL - 1

SP - 166

EP - 170

JO - Nature Genetics

JF - Nature Genetics

IS - 3

ER -

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

Abstract

Keywords

Access to Document

Fingerprint

Cite this