SF3B1/Hsh155 HEAT motif mutations affect interaction with the spliceosomal ATPase Prp5, resulting in altered branch site selectivity in pre-mRNA splicing.

Tang, Qing; Rodriguez-Santiago, Susana; Wang, Jing; Pu, Jia; Yuste, Andrea; Gupta, Varun; Moldón, Alberto; Xu, Yong-Zhen; Query, Charles C

Tang, Qing; Rodriguez-Santiago, Susana; Wang, Jing; Pu, Jia; Yuste, Andrea; Gupta, Varun; Moldón, Alberto; Xu, Yong-Zhen; Query, Charles C.

Afiliación

Tang Q; Key Laboratory of Insect Developmental and Evolutionary Biology, CAS Center for Excellence in Molecular Cell Science, Institute of Plant Physiology and Ecology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200032 China.
Rodriguez-Santiago S; Department of Cell Biology, Albert Einstein College of Medicine, Bronx, New York 10461 USA.
Wang J; Key Laboratory of Insect Developmental and Evolutionary Biology, CAS Center for Excellence in Molecular Cell Science, Institute of Plant Physiology and Ecology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200032 China.
Pu J; Key Laboratory of Insect Developmental and Evolutionary Biology, CAS Center for Excellence in Molecular Cell Science, Institute of Plant Physiology and Ecology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200032 China.
Yuste A; Department of Cell Biology, Albert Einstein College of Medicine, Bronx, New York 10461 USA.
Gupta V; Department of Cell Biology, Albert Einstein College of Medicine, Bronx, New York 10461 USA.
Moldón A; Department of Cell Biology, Albert Einstein College of Medicine, Bronx, New York 10461 USA.
Xu YZ; Key Laboratory of Insect Developmental and Evolutionary Biology, CAS Center for Excellence in Molecular Cell Science, Institute of Plant Physiology and Ecology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200032 China.
Query CC; Department of Cell Biology, Albert Einstein College of Medicine, Bronx, New York 10461 USA.

Genes Dev ; 30(24): 2710-2723, 2016 12 15.

Article en En | MEDLINE | ID: mdl-28087715

Asunto(s)

ARN Helicasas DEAD-box/metabolismo; Factores de Empalme de ARN/genética; Factores de Empalme de ARN/metabolismo; Ribonucleoproteína Nuclear Pequeña U2/metabolismo; Proteínas de Saccharomyces cerevisiae/metabolismo; Secuencias de Aminoácidos/genética; ARN Helicasas DEAD-box/genética; Humanos; Intrones/genética; Mutación; Fosfoproteínas/genética; Fosfoproteínas/metabolismo; Unión Proteica/genética; Precursores del ARN/metabolismo; Empalme del ARN/genética; Ribonucleoproteína Nuclear Pequeña U2/genética; Proteínas de Saccharomyces cerevisiae/genética; Empalmosomas/genética

Palabras clave

HEAT motif; Prp5; SF3B1/Hsh155; disease mutation; pre-mRNA splicing fidelity

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ribonucleoproteína Nuclear Pequeña U2 / Proteínas de Saccharomyces cerevisiae / ARN Helicasas DEAD-box / Factores de Empalme de ARN Límite: Humans Idioma: En Revista: Genes Dev Asunto de la revista: BIOLOGIA MOLECULAR Año: 2016 Tipo del documento: Article

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