Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.
P0, a major structural protein of peripheral myelin, is a homophilic adhesion molecule and maps to chromosome 1q22-q23, in the region of the locus for Charcot-Marie-Tooth neuropathy type 1B (CMT1B). We have investigated P0 as a candidate gene in two pedigrees with CMT1B and found point mutations which are completely linked with the disease (Z = 5.5, theta = 0). The mutations, glutamate substitution for lysine 96 or aspartate 90, are located in the extracellular domain, which plays a significant role in myelin membrane adhesion. Individuals with CMT1B are heterozygous for the normal allele and the mutant allele. Our results indicate that P0 is a gene responsible for CMT1B.
Hayasaka
K
K
Department of Pediatrics, Akita University School of Medicine, Japan.
Himoro
M
M
Sato
W
W
Takada
G
G
Uyemura
K
K
Shimizu
N
N
Bird
T D
TD
Conneally
P M
PM
Chance
P F
PF
D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D005260:Female; D005796:Genes; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D018993:Myelin P0 Protein; D009185:Myelin Proteins / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
D018993:Myelin P0 Protein; D009185:Myelin Proteins