title: Identification of a Val 145 Ile substitution in the human myelin oligodendrocyte glycoprotein: lack of association with multiple sclerosis. The Réseau de Recherche Clinique INSERM sur la Susceptibilité Génétique à la Sclérose en Plaques.
abstract: Myelin/oligodendrocyte glycoprotein (MOG) is a major target antigen in experimental autoimmune encephalomyelitis and it has been suggested that it may as well play a key role in the demyelination process in multiple sclerosis (MS). As MOG variants could be pathogenic in autoimmune demyelinating diseases of the central nervous system, we analysed the coding sequence of MOG in MS patients and described a G-->A transition occurring in exon 3 of the human MOG gene. The mutation predicts that isoleucine substitutes for a valine at codon 145 (Val 145 Ile) in the transmembrane region of the protein. This is the first aminoacid substitution reported in human MOG. The polymorphism can be detected by restriction enzyme digestion of genomic DNA or reverse-transcribed PCR amplified products, making it a simple tool to detect a potential implication of MOG alleles in susceptibility to MS by association study. The analysis of 83 unrelated MS patients and 82 unrelated healthy controls showed that the polymorphism is found in similar proportions in MS patients (18%) and controls (14.6%). It is therefore unlikely that the MOG Val 145 Ile variant is responsible for genetic susceptibility to MS.
authors.affiliation: Laboratoire de Neurogénétique Moléculaire, URA 1488 CNRS, Université de Paris VI, France.
authors.forename: D
authors.initials: D
authors.lastname: Rodriguez
authors.forename: B
authors.initials: B
authors.lastname: Della Gaspera
authors.forename: B
authors.initials: B
authors.lastname: Zalc
authors.forename: J J
authors.initials: JJ
authors.lastname: Hauw
authors.forename: B
authors.initials: B
authors.lastname: Fontaine
authors.forename: G
authors.initials: G
authors.lastname: Edan
authors.forename: M
authors.initials: M
authors.lastname: Clanet
authors.forename: A
authors.initials: A
authors.lastname: Dautigny
authors.forename: D
authors.initials: D
authors.lastname: Pham-Dinh
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution / Q000235:genetics*; D001483:Base Sequence; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009103:Multiple Sclerosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009185:Myelin Proteins; D018992:Myelin-Associated Glycoprotein / Q000235:genetics*; D063308:Myelin-Oligodendrocyte Glycoprotein; D011110:Polymorphism, Genetic / Q000235:genetics
chemical_list: C571326:MOG protein, human; D009185:Myelin Proteins; D018992:Myelin-Associated Glycoprotein; D063308:Myelin-Oligodendrocyte Glycoprotein