A study of mobile element inserted into dystrophin gene

• Project/Area Number: 21790988
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Pediatrics
• Research Institution: Kobe University
• Principal Investigator: AWANO Hiroyuki Kobe University, 大学院・医学研究科, 特命助教 (30437470)
• Project Period (FY): 2009 – 2010
• Project Status: Completed (Fiscal Year 2010)
• Budget Amount: ¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000); Fiscal Year 2010: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2009: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
• Keywords: ジストロフィン遺伝子 / レトロトランスポゾン

Research Abstract

We identified an approximately 330-bp sequence inserted into dystrophin gene. This inserted sequence had an approximately 110-bp stretch of T, and complementary sequence of the remaining 212-bp perfectly matched with genomic sequence on the human chromosome 11. Our finding suggested that the source region on chromosome 11 was inserted into dystrophin gene after reverse transcription. Further analysis of the transcript revealed that entire 452-bp region on chromosome 11 was actively transcribed. This 452-bp sequence was transcript from a region where no gene had been mapped and had no appreciable protein coding ability. Thus this transcript is currently considered a novel non-coding gene.

Research Products

• [Journal Article] Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA (2010)
  • Author(s): Hiroyuki Awano
  • Journal Title: Journal of Human Genetics Volume: 55 Pages: 785-790
  • NAID: 10030737817
  • Peer Reviewed
• [Journal Article] Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA.
  • Author(s): Awano H, Malueka RG, Yagi M, Okizuka Y, Takeshima Y, Matsuo M.
  • Journal Title: Journal of Human Genetics 55巻 Pages: 785-90
  • NAID: 10030737817
  • Peer Reviewed
• [Presentation] Genotype-phenotype correlation of the dystrophinopathy cases with small mutations in the dystrophin gene. (2010)
  • Author(s): 粟野宏之
  • Organizer: アメリカ小児科学会
  • Place of Presentation: バンクーバーコンベンションセンター
  • Year and Date: 2010-05-02
• [Presentation] Genotype-phenotype correlation of the dystrophinopathy cases with small mutations in the dystrophin gene (2010)
  • Author(s): 粟野宏之
  • Organizer: アメリカ小児科学会
  • Place of Presentation: Vancouver Convention Centre(Canada)
  • Year and Date: 2010-05-02
• [Presentation] High incidence of outlier from the reading-frame rule in dystrophinopathy patients with duplication mutations in the dystrophin (2009)
  • Author(s): 八木麻理子
  • Organizer: アメリカ小児科学会
  • Place of Presentation: ヒルトンボルチモア
  • Year and Date: 2009-05-03
• [Presentation] High incidence of outlier from the reading-frame rule in dyst rophinopathy patients with duplication mutations in the dystrophin. (2009)
  • Author(s): 八木麻理子
  • Organizer: アメリカ小児科学会
  • Place of Presentation: Hilton Baltimore(米国)
  • Year and Date: 2009-05-03
• [Remarks] ホームページ等