General transcription factor TAF1 is involved in transcriptional impairment and neurodegeneration

• Project/Area Number: 24590400
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Human genetics
• Research Institution: Tohoku University (2013-2014); Yamagata University (2012)
• Principal Investigator: MAKINO Satoshi 東北大学, 東北メディカル・メガバンク機構, 研究支援者 (30423403)
• Co-Investigator(Kenkyū-buntansha): TOOYAMA Ikuo 滋賀医科大学, 分子神経科学研究センター, 教授 (20207533)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Project Status: Completed (Fiscal Year 2014)
• Budget Amount: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000); Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2013: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2012: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
• Keywords: 転写因子 / 神経変性 / 転写障害 / 遺伝子 / 核酸 / 神経 / 発現制御

Outline of Final Research Achievements

We performed cell-cycle analysis in TAF1 or neuron-speciphic TAF1 (N-TAF1) transfected temperature-sensitive mutant hamster cell line, exhibits cell cycle arrest and apoptosis at the restrictive temperature. The aim is the comparison of the functional difference between TAF1 and N-TAF1 according to the view of possibilities that transcriptional impairment of subunit of general transcription factor causes neurodegeneration. Analysis of cell cycle by flow cytometry in TAF1 or neuron-speciphic TAF1 (N-TAF1) transfected mutant hamster cell line showed that the point mutation affects cell cycle in the cell line is less relevant to TAF1's neuron-specific functions.

Research Products

• [Journal Article] Whole-exome sequencing confirmation of a novel heterozygous mutation in RUNX1 in a pregnant woman with platelet disorder. (2015)
  • Author(s): Obata M, Tsutsumi S, Makino S, Takahashi K, Watanabe N, Yoshida T, Tamiya G, Kurachi H.
  • Journal Title: Platelets Volume: 26 Issue: 4 Pages: 364-369
  • DOI: 10.3109/09537104.2014.912750
  • Peer Reviewed
• [Journal Article] A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease. (2014)
  • Author(s): Tamiya G, Makino S, Hayashi M, Abe A, Numakura C, Ueki M, Tanaka A, Ito C, Toshimori K, Ogawa N, Terashima T, Maegawa H, Yanagisawa D, Tooyama I, Tada M, Onodera O, Hayasaka K.
  • Journal Title: Am J Hum Genet. Volume: 95 Issue: 3 Pages: 294-300
  • DOI: 10.1016/j.ajhg.2014.07.013
  • Peer Reviewed / Open Access
• [Journal Article] Visualizing Hepatic Copper Release in Long-Evans Cinnamon Rats Using Single-Photon Emission Computed Tomography. (2013)
  • Author(s): Yezdimer, E.M., Umemoto, T., Yamada, H., Makino, S., Tooyama I
  • Journal Title: Appl. Biochem. Biotechnol Volume: 170 Issue: 5 Pages: 1138-1150
  • DOI: 10.1007/s12010-013-0252-9
  • Peer Reviewed
• [Journal Article] Knockdown of p53 suppresses Nanog expression in embryonic stem cells. (2013)
  • Author(s): Abdelalim EM, Tooyama I.
  • Journal Title: Biochem Biophys Res Commun Volume: 443 Issue: 2 Pages: 652-657
  • DOI: 10.1016/j.bbrc.2013.12.030
  • Peer Reviewed
• [Journal Article] Mitochondrial ferritin in neurodegenerative diseases. (2013)
  • Author(s): Yang, H., Yang, M., Guan, H., Liu, Z., Zhao, S., Takeuchi, S., Yanagisawa, D., Tooyama. I.
  • Journal Title: Neurosci Res. Volume: 77 Issue: 1-2 Pages: 1-7
  • DOI: 10.1016/j.neures.2013.07.005
  • Peer Reviewed
• [Journal Article] Generation of a Monoclonal Antibody Specifically Reacting with Neuron-specific TATA-Box Binding Protein-Associated Factor 1 (N-TAF1) (2013)
  • Author(s): Makino S, Masuda C, Ando S, Tamiya G, Tooyama I.
  • Journal Title: Antibodies Volume: 2 Issue: 1 Pages: 1-8
  • DOI: 10.3390/antib2010001
  • Peer Reviewed
• [Journal Article] Sustained expression of a neuron-specific isoform of the Taf1 gene in development stages and aging in mice (2012)
  • Author(s): Jambaldorj J, Makino S, Munkhbat B, Tamiya G.
  • Journal Title: Biochem Biophys Res Commun Volume: 425(2) Issue: 2 Pages: 273-277
  • DOI: 10.1016/j.bbrc.2012.07.081
  • Peer Reviewed
• [Journal Article] In Vivo Detection of Copper Ions by Magnetic Resonance ImagingUsing a Prion-Based Contrast Agent. (2012)
  • Author(s): Makino S
  • Journal Title: Appl Biochem Biotechnol. Volume: 168 Issue: 3 Pages: 504-518
  • DOI: 10.1007/s12010-012-9792-7
  • Peer Reviewed
• [Journal Article] UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family (2012)
  • Author(s): Kato T, Tamiya G, Koyama S, Nakamura T, Makino S, Arawaka S, Kawanami T, Tooyama I.
  • Journal Title: ISRN Neurol Volume: 2012 Pages: 508308-508308
  • DOI: 10.5402/2012/508308
  • Peer Reviewed