NGS 기술 활용 돌연변이체 해석 및 연구현황

Current status and prospects to identify mutations responsible for mutant phenotypes by using NGS technology

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.