Generation and characterization of transgenic mice expressing mutated WWP1 gene responsible for chicken muscular dystrophy

2011 Fiscal Year Final Research Report

• Project/Area Number: 21500384
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Neurophysiology and muscle physiology
• Research Institution: National Center of Neurology and Psychiatry
• Principal Investigator: IMAMURA Michihiro 独立行政法人国立精神・神経医療研究センター, 神経研究所遺伝子疾患治療研究部, 室長 (80221787)
• Co-Investigator(Kenkyū-buntansha): MANNEN Hideyuki 神戸大学, 大学院・農学研究科, 教授 (20263395)
• Project Period (FY): 2009 – 2011
• Keywords: 酵素 / 細胞組織 / 遺伝子 / 実験動物 / 筋ジストロフィー

Research Abstract

The WWP1 gene was identified as a promising candidate responsible for chicken muscular dystrophy, which encodes a E3 ubiquitin protein ligase. Dystrophy chicken has a missense mutation in the gene causes one amino acid change in the molecule. To gain insight into molecular mechanism of the muscular dystrophy, we generated transgenic(Tg) mice expressing the same mutated WWP1 as found in dystrophy chicken. Tg mice showed a small number of necrotic and regenerating fibers in the hind limb muscle. Moreover, vacuoles were often found in aged Tg mice. Whereas, aberrant glycosylation ofα-dystroglycan was not shown in Tg muscle despite of a report with dystrophy chicken.

Research Products

• [Journal Article] (2010)
  • Author(s): Matsumoto H, Sasazaki S, Fujiwara A, Ichihara N, Kikuchi T, Mannen H
  • Journal Title: Comp Biochem Physiol A Mol Integr Physiol Volume: vol.157 Pages: 68-72
  • DOI: DOI:10.1016/j.cbpa.2010.04.019
  • Peer Reviewed
• [Journal Article] (2009)
  • Author(s): Masuda-Hirata M, Suzuki A, Amano Y, Yamashita K, Ide M, Yamanaka T, Sakai M, Imamura M, Ohno S
  • Journal Title: Genes to Cells Volume: vol.14 Pages: 835-850
  • DOI: DOI:10.1111/j.1365-2443.2009.01315.x
  • Peer Reviewed
• [Journal Article] (2009)
  • Author(s): Matsumoto H, Maruse H, Sasazaki S, Fujiwara A, Takeda S, Ichihara N, Kikuchi T, Mukai F, Mannen H
  • Journal Title: The Journal of Poultry Science Volume: vol.46 Pages: 95-99
  • DOI: DOI:10.2141/jpsa.46.95
  • Peer Reviewed
• [Presentation] (2011)
  • Author(s): Imamura M, Takeda S
  • Organizer: 51^<th> Annual Meeting American Society for Cell Biology
  • Place of Presentation: Denver(U. S. A.)
  • Year and Date: 20110000
• [Presentation] (2010)
  • Author(s): Imamura M, Takeda S
  • Organizer: 50^<th> Annual Meeting American Society for Cell Biology
  • Place of Presentation: Philadelphia(U. S. A.)
  • Year and Date: 20100000
• [Presentation] (2010)
  • Author(s): 今村道博,松本大和,稲葉由美,万年英之,武田伸一
  • Organizer: 第63回日本細胞生物学会大会
  • Place of Presentation: 札幌
  • Year and Date: 20100000
• [Presentation] (2009)
  • Author(s): Imamura M, Takeda S
  • Organizer: 49^<th> Annual Meeting American Society for Cell Biology
  • Place of Presentation: San Diego(U. S. A.)
  • Year and Date: 20090000