title: The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.
abstract: Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a DNA duplication at chromosome 17p11.2. In view of the point mutation in the gene for peripheral myelin protein pmp-22/gas-3 in Trembler mice, a murine model for CMT1A, we have analysed whether this gene is altered in CMT1A. Here we show that the human homologue of the murine pmp-22 gene is located within the CMT1A DNA duplication, which is a direct repeat and does not interrupt the coding region of PMP-22. Expression of PMP-22 in CMT1A fibroblasts is similar to expression in control fibroblasts. Increased gene dosage or altered PMP-22 expression in the peripheral nervous system are therefore possible mechanisms by which PMP-22 is involved in CMT1A.
authors.affiliation: Department of Neurology, Academical Medical Center, Amsterdam, The Netherlands.
authors.forename: L J
authors.initials: LJ
authors.lastname: Valentijn
authors.forename: P A
authors.initials: PA
authors.lastname: Bolhuis
authors.forename: I
authors.initials: I
authors.lastname: Zorn
authors.forename: J E
authors.initials: JE
authors.lastname: Hoogendijk
authors.forename: N
authors.initials: N
authors.lastname: van den Bosch
authors.forename: G W
authors.initials: GW
authors.lastname: Hensels
authors.forename: V P
authors.initials: VP
authors.lastname: Stanton
authors.forename: D E
authors.initials: DE
authors.lastname: Housman
authors.forename: K H
authors.initials: KH
authors.lastname: Fischbeck
authors.forename: D A
authors.initials: DA
authors.lastname: Ross
mesh_terms: D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000235:genetics*; D004247:DNA / Q000235:genetics; D015870:Gene Expression; D006801:Humans; D008969:Molecular Sequence Data; D005810:Multigene Family; D009185:Myelin Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human; D004247:DNA