Functional analysis of nucleoporin TMEM48 in the genome dynamics

• Project/Area Number: 24780270
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Applied animal science
• Research Institution: Okayama University
• Principal Investigator: AKIYAMA Kouyou 岡山大学, 学内共同利用施設等, 助教 (20515142)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Project Status: Completed (Fiscal Year 2014)
• Budget Amount: ¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000); Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000); Fiscal Year 2012: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
• Keywords: 疾患モデル動物 / 生殖生物学 / 遺伝学 / 核膜孔 / 発生生物学 / 配偶子形成

Outline of Final Research Achievements

The function of the nucleoporin during gametogenesis remains unknown, although the nucleoporin has an important role in various biological natures, such as the nucleo-cytoplasmic transport and nuclear morphology assembly, in vitro. In this study, it is proposed to elucidate the role of the nucleoporin during gametogenesis. As a results, the examinations indicated that the induced-DNA damages are repaired in MEFs without TMEM48 and the SOMOlyation systems may be functional in the sks mice.

Research Products

• [Journal Article] An ENU-induced mutation in the mouse Rnf212 gene is associated with male meiotic failure and infertility. (2015)
  • Author(s): Fujiwara Y, Matsumoto H, Akiyama K, Srivastava A, Chikushi M, Ann Handel M, Kunieda T.
  • Journal Title: Reproduction Volume: 149 Issue: 1 Pages: 67-74
  • DOI: 10.1530/rep-14-0122
  • Peer Reviewed / Open Access
• [Journal Article] Characterization of skeletal fusion with sterility (sks) mouse showing axial skeleton abnormalities caused by defects of embryonic skeletal development (2014)
  • Author(s): Kouyou Akiyama, Kentaro Katayama, Takehito Tsuji, Tetsuo Kunieda.
  • Journal Title: Experimental Animals Volume: 63 Pages: 11-19
  • NAID: 40019945819
  • Peer Reviewed
• [Journal Article] A Missense Mutation in Rev7 Disrupts Formation of Polζ, Impairing Mouse Development and Repair of Genotoxic Agent-induced DNA Lesions (2014)
  • Author(s): Maryam Khalaj, Abdolrahim Abbasi, Hiroshi Yamanishi, Kouyou Akiyama, Shuso Wakitani, Sotaro Kikuchi, Michiko Hirose, Misako Yuzuriha, Masaki Magari, Heba A Degheidy, Kuniya Abe, Atsuo Ogura, Hiroshi Hashimoto, & Tetsuo Kunieda
  • Journal Title: J Biol Chem Volume: 289 Issue: 6 Pages: 3811-3824
  • DOI: 10.1074/jbc.m113.514752
  • Peer Reviewed
• [Journal Article] A mutation in the nuclear pore complex gene Tmem48 causes gametogenesis defects in skeletal fusions with sterility (sks) mice (2013)
  • Author(s): Kouyou Akiyama (応募者), Junko Noguchi, Michiko Hirose, Shimpei Kajita, Kentaro Katayama, Maryam Khalaj, Takehito Tsuji, Heather Fairfield, Candice Byers, Laura Reinholdt, Atsuo Ogura, Tetsuo Kunieda
  • Journal Title: The Journal of biological chemistry Volume: 288 Issue: 44 Pages: 31830-31841
  • DOI: 10.1074/jbc.m113.492306
  • Peer Reviewed
• [Journal Article] 酵母ツーハイブリッド法を用いたTMEM48と結合する精巣タンパク質のスクリーニング (2013)
  • Author(s): 梶田晋平、秋山耕陽、辻岳人、国枝哲夫
  • Journal Title: The Journal of Animal Genetics Volume: 41 Pages: 77-86
  • NAID: 130003396596
  • Peer Reviewed
• [Presentation] Mutation in a Nucleoporin, Tmem48, gene Causes Morphological Abnormalities of Nuclear Envelope in Germ Cell of Mouse (2012)
  • Author(s): Kouyou Akiyama、Shimpei Kajita,、Junko Noguchi,、Takehito Tsuji 、Tetsuo Kunieda
  • Organizer: The 58th/60th NIBB Conference
  • Place of Presentation: 愛知県岡崎市 岡崎カンファレンスセンター