Nature Genetics
1, 176 - 179 (1992)
doi:10.1038/ng0692-176
Peripheral myelin protein−22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot−Marie−Tooth 1ANorisada Matsunami1, 2, Brooke Smith3, Linda Ballard2, M. William Lensch3, Margaret Robertson1, 2, Hans Albertsen2, C. Oliver Hanemann4, Hans W. Müller4, Thomas D. Bird5, Ray White1, 2
& Phillip F. Chance3
1Howard Hughes Medical Institute, Department of Pediatrics, University of Utah Medical Center, Salt Lake City, Utah 84112, USA
2Department of Human Genetics, Department of Pediatrics, University of Utah Medical Center, Salt Lake City, Utah 84112, USA
3Division of Medical Genetics, Department of Pediatrics, University of Utah Medical Center, Salt Lake City, Utah 84112, USA
4Molecular Neurobiology Laboratory, Department of Neurology, Heinrich-Heine University, D-4000 Düsseldorf, Germany
5Divisions of Medical Genetics and Neurology, University of Washington School of Medicine, Seattle, Washington 98195, USA 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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