Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A

Norisada Matsunami; Brooke Smith; Linda Ballard; M. William Lensch; Margaret Robertson; Hans Albertsen; C. Oliver Hanemann; Hans W. Müller; Thomas D. Bird; Ray White; Phillip F. Chance

doi:10.1038/ng0692-176

Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A

Norisada Matsunami, Brooke Smith, Linda Ballard, M. William Lensch, Margaret Robertson, Hans Albertsen, C. Oliver Hanemann, Hans W. Müller, Thomas D. Bird, Ray White, Phillip F. Chance^*

^*Corresponding author for this work

Peninsula Medical School

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

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.

Original language	English
Pages (from-to)	176-179
Number of pages	4
Journal	Nature Genetics
Volume	1
Issue number	3
DOIs	https://doi.org/10.1038/ng0692-176
Publication status	Published - Jun 1992

ASJC Scopus subject areas

Genetics

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title = "Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A",

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.",

author = "Norisada Matsunami and Brooke Smith and Linda Ballard and Lensch, {M. William} and Margaret Robertson and Hans Albertsen and Hanemann, {C. Oliver} and M{\"u}ller, {Hans W.} and Bird, {Thomas D.} and Ray White and Chance, {Phillip F.}",

year = "1992",

month = jun,

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T1 - Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A

AU - Matsunami, Norisada

AU - Smith, Brooke

AU - Ballard, Linda

AU - Lensch, M. William

AU - Robertson, Margaret

AU - Albertsen, Hans

AU - Hanemann, C. Oliver

AU - Müller, Hans W.

AU - Bird, Thomas D.

AU - White, Ray

AU - Chance, Phillip F.

PY - 1992/6

Y1 - 1992/6

N2 - 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.

AB - 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.

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Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A

Abstract

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