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The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.
Valentijn, L J; Bolhuis, P A; Zorn, I; Hoogendijk, J E; van den Bosch, N; Hensels, G W; Stanton, V P; Housman, D E; Fischbeck, K H; Ross, D A.
Afiliación
  • Valentijn LJ; Department of Neurology, Academical Medical Center, Amsterdam, The Netherlands.
Nat Genet ; 1(3): 166-70, 1992 Jun.
Article en En | MEDLINE | ID: mdl-1303229
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.
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Proteínas de la Mielina Límite: Humans Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 1992 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos
Buscar en Google
Añadir a Mi BVS
Imprimir
XML
PubMed Links

Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Proteínas de la Mielina Límite: Humans Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 1992 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos