title: New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1.
abstract: P0, the major structural protein of peripheral myelin, is a homophilic adhesion molecule with a single immunoglobulin (Ig) domain, which contains a single N-linked glycosylation site and two cysteines. We have previously reported four different mutations of the myelin P0 gene in four families of Charcot-Marie-Tooth neuropathy type 1 (CMT1). In this study we found a new mutation of the myelin P0 gene in a small family of CMT1. The affected persons had an A - to - G substitution of nucleotide 245 of the myelin P0 gene in one allele, leading to a cysteine substitution for tyrosine82 in the extracellular Ig-domain. An additional cysteine in the extracellular domain may form a disulfide bond and cause an inappropriate change in the tertiary structure of the functional Ig-domain of P0.
authors.affiliation: Department of Pediatrics and Dentistry, Akita University School of Medicine, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Himoro
authors.forename: H
authors.initials: H
authors.lastname: Yoshikawa
authors.forename: T
authors.initials: T
authors.lastname: Matsui
authors.forename: Y
authors.initials: Y
authors.lastname: Mitsui
authors.forename: M
authors.initials: M
authors.lastname: Takahashi
authors.forename: M
authors.initials: M
authors.lastname: Kaido
authors.forename: T
authors.initials: T
authors.lastname: Nishimura
authors.forename: Y
authors.initials: Y
authors.lastname: Sawaishi
authors.forename: G
authors.initials: G
authors.lastname: Takada
authors.forename: K
authors.initials: K
authors.lastname: Hayasaka
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D015816:Cell Adhesion Molecules, Neuronal / Q000737:chemistry / Q000235:genetics*; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D018993:Myelin P0 Protein; D009185:Myelin Proteins / Q000737:chemistry / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D015816:Cell Adhesion Molecules, Neuronal; D018993:Myelin P0 Protein; D009185:Myelin Proteins