Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.
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.
Matsunami
N
N
Howard Hughes Medical Institute, University of Utah Medical Center, Salt Lake City 84112.
Smith
B
B
Ballard
L
L
Lensch
M W
MW
Robertson
M
M
Albertsen
H
H
Hanemann
C O
CO
Müller
H W
HW
Bird
T D
TD
White
R
R
D000818:Animals; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000235:genetics*; D002874:Chromosome Mapping; D015825:Chromosomes, Fungal; D002886:Chromosomes, Human, Pair 17; D004247:DNA / Q000235:genetics; D005260:Female; D015723:Gene Library; D005819:Genetic Markers; D015894:Genome, Human; D006801:Humans; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D005810:Multigene Family; D009185:Myelin Proteins / Q000235:genetics*
D005819:Genetic Markers; D009185:Myelin Proteins; C073687:PMP22 protein, human; C489545:Pmp22 protein, mouse; D004247:DNA