NGS 기술 활용 돌연변이체 해석 및 연구현황

• 영문명: Current status and prospects to identify mutations responsible for mutant phenotypes by using NGS technology
• 발행기관: (사)한국식물생명공학회
• 저자명: 정유진(Yu Jin Jung) 류호진(Ho Jin Ryu) 조용구(Yong-gu Cho) 강권규(Kwon Kyoo Kang)
• 간행물 정보: 『Journal of Plant Biotechnology』43권 4호, 411~416쪽, 전체 6쪽
• 주제분류: 농수해양 > 기타농수해양
• 파일형태: PDF
• 발행일자: 2016.12.31

영문 초록

Next-generation sequencing allows the identification of mutations responsible for mutant phenotypes by wholegenome 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 nucleotidebinding site-leucine rich repeat (NBS-LRR) class.

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키워드

Mutations Next-generation sequencing NGS Genome wide association study GWAS