HnRNP C1/C2 May Regulate Exon 7 Splicing in the Spinal Muscular Atrophy Gene SMN1

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概要

• 論文の詳細を見る

• Spinal muscular atrophy (SMA) is caused by loss of SMN1. A nearly identical gene,SMN2, fails to compensate for the loss of SMN1 because SMN2 produces mainly anexon 7-skipped product. The +6C in SMN1 exon 7 proceeds to include exon 7 intomRNA, while the +6U in SMN2 causes skipping of exon 7. Here, ∼45kD proteins boundto the SMN exon 7 RNA probe was found, and identified as hnRNP C1/C2. In gel-shiftassay, hnRNP C1/C2 had a greater affinity for the RNA probe with +6C than for theRNA probe with +6U. In vitro splicing assay showed that anti-hnRNP C1/C2 antibodyhampered splicing of SMN1 exon 7, but did not affect splicing of SMN2 exon 7. Inconclusion, we showed the possibility that hnRNP C1/C2 enhanced SMN1 exon 7splicing specifically.

• 神戸大学の論文

著者

• MATSUO Masafumi

  Department of Pediatrics, Graduate School of Medicine, Kobe University

• NISHIO Hisahide

  Department of Genetic Epidemiology, Graduate School of Medicine, Kobe University

• Matsuo M

  Department Of Pediatrics Graduate School Of Medicine Kobe University

• Myeong Jin

  Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University

• KITAMURA Keiko

  Department of Electrical Engineering, Nagaoka University of Technology

• Miyamoto Masaki

  Second Department Of Internal Medicine Kobe University School Of Medicine

• Matsuo Masafumi

  Department Of Pediatrics Graduate School Of Medicine Kobe University

• KATO Nozomu

  Department of Bioresources Science, Faculty of Agriculture, Hirosaki University

• Irimura Sanae

  Department of Genetic Epidemiology, Kobe University Graduate School of Medicine

• Saiki Kayoko

  Department of Pediatrics, Kobe University Graduate School of Medicine

• Takeuchi Atsuko

  Kobe Pharmaceutical University

• Nishio Hisahide

  Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University

• Nishio Hisahide

  Department Of Pubic Health And Genetic Epidemiology Kobe University Graduate School Of Medicine

• Nishio Hisahide

  Department Of Environmental Medicine Kobe University

• Matsuo M

  Division Of Genetics International Center For Medical Research Kobe University School Of Medicine

• Myeong Jin

  Department Of Pediatrics Kobe University Graduate School Of Medicine

• Kato Nozomu

  Department Of Genetic Epidemiology Kobe University Graduate School Of Medicine

• Kato Nozomu

  Department Of Bioresources Science Faculty Of Agriculture Hirosaki University

• Saiki Kayoko

  Department Of Pediatrics Kobe University Graduate School Of Medicine

• Irimura Sanae

  Department Of Genetic Epidemiology Kobe University Graduate School Of Medicine

• Nishio H

  Department Of Public Health Kobe University Graduate School Of Medicine

• Akutsu Tomoko

  Kobe Pharmaceutical University

• Mizutori Masakazu

  Department Of Pediatrics Graduate School Of Medicine Kobe University

• Kitamura Keiko

  Department Of Genetic Epidemiology Kobe University Graduate School Of Medicine

• NISHIO Hisahide

  Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine

• MATSUO Masafumi

  Department of Medical Rehabilitation, Faculty of Rehabilitation, Kobegakuin University

• KITAMURA Keiko

  Department of Chemistry, Faculty of Science, Toyama Univeristy

• Takeuchi Atsuko

  Kobe Pharm. Univ.

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