Journal of Plant Biotechnology

The Korean Society of Plant Biotechnology (한국식물생명공학회)
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Current status and prospects to identify mutations responsible for mutant phenotypes by using NGS technology

NGS 기술 활용 돌연변이체 해석 및 연구현황

  • Jung, Yu Jin (Department of Horticultural Life Science, Hankyong National University, Institute of Genetic Engineering, Hankyong National University) ;
  • Ryu, Ho Jin (Department of Biology, Chungbuk National University) ;
  • Cho, Yong-Gu (Department of Crop Science, Chungbuk National University) ;
  • Kang, Kwon Kyoo (Department of Horticultural Life Science, Hankyong National University, Institute of Genetic Engineering, Hankyong National University)
  • 정유진 (국립한경대학교 원예생명과학과, 국립한경대학교 유전공학연구소) ;
  • 류호진 (충북대학교 자연과학대학 생물학과) ;
  • 조용구 (충북대학교 식물자원학과) ;
  • 강권규 (국립한경대학교 원예생명과학과, 국립한경대학교 유전공학연구소)
  • Received : 2016.11.02
  • Accepted : 2016.11.04
  • Published : 2016.12.31
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Abstract

Next-generation sequencing allows the identification of mutations responsible for mutant phenotypes by whole-genome resequencing and alignment to a reference genome. However, when the resequenced cultivar/line displays significant structural variation from the reference genome, mutations in the genome regions absent in the reference cannot be identified by simple alignment. In this review, we report the current status and prospects in identification of genes in mutant phenotypes, by using the methods MutMap, MutMap-Gap, and MutMap+. These methods delineate a candidate region harboring a mutation of interest, followed by de novo assembly, alignment, and identification of the mutation within genome gaps. These methods are likely to prove useful for cloning genes that exhibit significant structural variations, such as disease resistance genes of the nucleotide-binding site-leucine rich repeat (NBS-LRR) class.

NGS 기술은 전체 게놈 시퀀싱 및 reference 게놈에 alignment에 의해 돌연변이 표현형에 관련된 돌연변이 식별에 이용한다. 그러나 품종 및 계통들을 resequence 하였을 경우 기존의 reference 게놈에 구조적 변이가 보이며, reference와 맞지 않는 게놈지역에서 돌연변이들은 단순한 alignment로 찾을 수 없다. 본 리뷰에서는 NGS 기술을 이용하여 돌연변이체로부터 변이 관련 유전자를 식별하는 MutMap, MutMap-Gap 및 MutMap+ 방법을 기술하였고 지금까지의 연구현황에 대해 기술하였다. 아울러 이들 방법은 nucleotide-binding site-leucine rich repeat (NBS-LRR) 그룹들의 병 저항성 유전자와 같이 구조적 변이를 가진 유전자를 분리하는 등 유용성에 대해 고찰하였다.

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