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2010 Fiscal Year Final Research Report

A study of mobile element inserted into dystrophin gene

Research Project

  • PDF
Project/Area Number 21790988
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionKobe 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
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

    (4 results)

All 2010 2009 Other

All Journal Article (1 results) (of which Peer Reviewed: 1 results) Presentation (2 results) Remarks (1 results)

  • [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

    • 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] High incidence of outlier from the reading-frame rule in dystrophinopathy patients with duplication mutations in the dystrophin2009

    • 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
  • [Remarks] ホームページ等

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Published: 2012-02-13   Modified: 2016-04-21  

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