The three-dimensional distances between the genes on each homologous chromosome in each cell as nuclear organization and genomic expression of the imprinted gene.

2013 Fiscal Year Final Research Report

• Project/Area Number: 24659156
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Single-year Grants
• Research Field: Human genetics
• Research Institution: Shinshu University
• Principal Investigator: WAKUI Keiko 信州大学, 医学部, 講師 (50324249)
• Co-Investigator(Kenkyū-buntansha): TANABE Hideyuki 総合研究大学院大学, 先導科学研究科, 准教授 (50261178)
• Co-Investigator(Renkei-kenkyūsha): FUKUSHIMA Yoshimitsu 信州大学, 医学部, 教授 (70273084) ; SAITOH Shinji 名古屋市立大学, 医学(系)研究科(研究院), 教授 (00281824)
• Research Collaborator: KAWAMURA Rie 信州大学, 医学部, アソシエイト研究員
• Project Period (FY): 2012-04-01 – 2014-03-31
• Keywords: 三次元核内配置 / 遺伝子発現 / エピジェネティクス / インプリンティング / 相同染色体 / 3D-FISH / RNA-FISH / 単一細胞解析

Research Abstract

This study is motivated to verify that gene-to-gene spatial positioning affect genomic function as epigenetic mechanism.
We focused on 15q11.2-q12, one of the known imprinted region, and measured 3D inter-gene distances between SNRPN and UBE3A genes on each homologous chromosome in each cell of the three different cell types from the same individual. And we have demonstrated that the distances were significantly different between alleles in all cell types (Kawamura et al., 2012).
Since then we have been trying to establish the sequential RNA and DNA FISH method as a single-cell gene expression analysis; which proceed sequentially from detection RNA signals of paternally expressed SNRPN gene to measurement of 3D distances of SNRPN-UBE3A genes in the same nucleus, in order to confirm the direct relationship between the differences of 3D distances of the genes and gene expression of SNRPN.

Research Products

• [Journal Article] Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization (2012)
  • Author(s): Kawamura, R., Tanabe, H., Wada, T., Saitoh, S., Fukushima, Y., Wakui, K.
  • Journal Title: Chromosome Res. Volume: 20 Pages: 659–672
  • Peer Reviewed
• [Presentation] Visualization of XIST expression in a female with structural X chromosome abnormality : Single-cell analysis by three-color interphase RNA-FISH (2014)
  • Author(s): Iha, W., Kawamura, R., Yamaguchi, T., Fukushima, Y., Wakui, K(代表)
  • Organizer: European Human Genetics Conference 2014
  • Place of Presentation: Milano, Italy
  • Year and Date: 2014-06-01
• [Presentation] RNA-FISH法を用いたSNRPN・UBE3A遺伝子の発現パターン解析 (2012)
  • Author(s): 河村理恵(代表),齋藤伸治,田辺秀之,和田敬仁,福嶋義光,涌井敬子
  • Organizer: 日本人類遺伝学会第57回大会
  • Place of Presentation: 東京
  • Year and Date: 2012-10-27
• [Presentation] Nonlinear and nonrandom genome organization of SNRPN, UBE3A, and GABRB3 in the normal human nucleus by three-color 3D-fluorescence in situ hybridization (2012)
  • Author(s): Kawamura, R.(代表), Tanabe, H., Wada, T., Saitoh, S., Fukushima, Y., Wakui, K.
  • Organizer: European Human Genetics Conference 2012
  • Place of Presentation: Nürnberg, Germany
  • Year and Date: 2012-06-24
• [Book] 臨床細胞遺伝学,遺伝子医学MOOK別冊いまさら聞けない『遺伝医学』 (2014)
  • Author(s): 涌井敬子
  • Total Pages: 25-41
  • Publisher: メディカルドゥ