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배아줄기세포에서 트랜스 스플라이싱 전사체의 분석

Analysis of Trans-splicing Transcripts in Embryonic Stem Cell

  • 하홍석 (부산대학교 자연과학대학 생명과학과) ;
  • 허재원 (한국생명공학연구원 국가영장류센터) ;
  • 김대수 (한국생명공학연구원 국가생물자원정보관리센터) ;
  • 박상제 (부산대학교 자연과학대학 생명과학과) ;
  • 배진한 (부산대학교 자연과학대학 생명과학과) ;
  • 안궁 (부산대학교 자연과학대학 생명과학과) ;
  • 윤세은 (부산대학교 자연과학대학 생명과학과) ;
  • 김희수 (부산대학교 자연과학대학 생명과학과)
  • Ha, Hong-Seok (Department of Biological Sciences, College of Natural Sciences, Pusan National University) ;
  • Huh, Jae-Won (National Primate Research Center, KRIBB) ;
  • Kim, Dae-Soo (Korean BioInformation Center, KRIBB) ;
  • Park, Sang-Je (Department of Biological Sciences, College of Natural Sciences, Pusan National University) ;
  • Bae, Jin-Han (Department of Biological Sciences, College of Natural Sciences, Pusan National University) ;
  • Ahn, Kung (Department of Biological Sciences, College of Natural Sciences, Pusan National University) ;
  • Yun, Se-Eun (Department of Biological Sciences, College of Natural Sciences, Pusan National University) ;
  • Kim, Heui-Soo (Department of Biological Sciences, College of Natural Sciences, Pusan National University)
  • 발행 : 2009.04.30

초록

유전자의 융합으로 인한 돌연변이는 염색체 재배열, 트랜스 스플라이싱, 유전자간 스플라이싱으로 인하여 야기된다고 알려져 있다. 우리는 두 개의 서로 다른 유전자의 pre-mRNA의 융합으로 인하여 만들어지는 트랜스 스플라이싱의 전사 산물에 관심을 가져, 인간의 태아 줄기 세포에서 이러한 돌연변이 양상을 분석하였다. 배아줄기세포의 mRNA에서 트랜스 스플라이싱 전사체 70개를 탐지해 내고, 이들의 융합되는 패턴에 따라 5'UTR-5'UTR, 5'UTR-3'UTR, 3'UTR-3'UTR, 5'UTR- CDS, 3'UTR-CDS, CDS-CDS의 6개의 유형으로 분류하여 분석하였다. 두 유전자의 융합되는 영역은 UTR영역보다 CDS에서 풍부하였는데, 이러한 이유는 많은 인트론 수로 인해 야기되는 것으로 추정된다. 융합되는 유전자의 염색체상의 위치분석 결과, 17번과 19번 염색체가 융합유전자의 활성화를 나타내었다. 이러한 연구결과는 향후 융합유전자와 인간의 질병 연구에 크게 기여할 것으로 사료된다.

Genetic mutations by gene fusion result from chromosomal rearrangement, trans-splicing, and intergenic splicing. Trans-splicing is a phenomenon in which two pre-mRNAs grow together into one. We analyzed the trans-splicing products in embryonic stem cells. By using bioinformatic tools, 70 trans-splicing transcripts were identified. They are classified into 6 types according to fusion pattern: 5'UTR-5'UTR, 5'UTR-3'UTR, 3'UTR-3'UTR, 5'UTR-CDS, 3'UTR-CDS, CDS-CDS. The fusion products are more abundant in CDS regions than in UTR regions, which contain multiple intron numbers. Chromosome analysis showing gene fusion via trans-splicing indicated that chromosomes 17 and 19 were activated. These data are of great use for further studies in relation to fusion genes and human diseases.

키워드

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