The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis.

Ueno , S; Maruki, Y; Nakamura, M; Tomemori, Y; Kamae, K; Tanabe, H; Yamashita, Y; Matsuda, S; Kaneko, S; Sano, A

Ueno , S; Maruki, Y; Nakamura, M; Tomemori, Y; Kamae, K; Tanabe, H; Yamashita, Y; Matsuda, S; Kaneko, S; Sano, A.

Afiliación

Ueno S; Department of Neuropsychiatry, Ehime University School of Medicine, Shigenobu, Ehime, Japan.

Nat Genet ; 28(2): 121-2, 2001 Jun.

Article en En | MEDLINE | ID: mdl-11381254

RESUMEN

Chorea-acanthocytosis is a neurodegenerative disorder with peripheral red cell acanthocytosis. Linkage of chorea-acanthocytosis to chromosome 9q21 has been found. We refined the locus region and identified a previously unknown, full-length cDNA encoding a presumably structural protein, which we called chorein. We found a deletion in the coding region of the cDNA leading to a frame shift resulting in the production of a truncated protein in both alleles of patients and in single alleles of obligate carriers.

Asunto(s)

Corea/genética; Ligamiento Genético; Proteínas/genética; Cromosomas Artificiales Bacterianos; Cromosomas Humanos Par 9; Etiquetas de Secuencia Expresada; Femenino; Haplotipos/genética; Humanos; Japón; Masculino; Datos de Secuencia Molecular; Linaje; Polimorfismo Genético; Proteínas de Transporte Vesicular

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas / Corea / Ligamiento Genético Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2001 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos

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