Institute of Bast Fiber Crops and Center of Southern Economic Crops, Chinese Academy of Agricultural Sciences, Changsha, China.
Novogene Bioinformatics Institute, Beijing, China.
DNA Res. 2018 Dec 1;25(6):587-596. doi: 10.1093/dnares/dsy027.
Genome-wide association studies are a powerful approach for identifying genes related to complex traits in organisms, but are limited by the requirement for a reference genome sequence of the species under study. To circumvent this problem, we propose a transcriptome-referenced association study (TRAS) that utilizes a transcriptome generated by single-molecule long-read sequencing as a reference sequence to score population variation at both transcript sequence and expression levels. Candidate transcripts are identified when both scores are associated with a trait and their potential interactions are ascertained by expression quantitative trait loci analysis. Applying this method to characterize garlic clove shape traits in 102 landraces, we identified 22 candidate transcripts, most of which showed extensive interactions. Eight transcripts were long non-coding RNAs (lncRNAs), and the others were proteins involved mainly in carbohydrate metabolism, protein degradation, etc. TRAS, as an efficient tool for association study independent of a reference genome, extends the applicability of association studies to a broad range of species.
全基因组关联研究是一种鉴定与生物体复杂性状相关基因的强大方法,但受到研究物种参考基因组序列要求的限制。为了解决这个问题,我们提出了一种基于转录组的关联研究(TRAS),该方法利用单分子长读测序生成的转录组作为参考序列,在转录序列和表达水平上对群体变异进行评分。当两个评分都与一个性状相关时,候选转录本就会被识别出来,并且通过表达数量性状基因座分析来确定它们的潜在相互作用。将这种方法应用于 102 个大蒜鳞茎形状特征的研究中,我们鉴定出了 22 个候选转录本,其中大多数表现出广泛的相互作用。8 个转录本是长非编码 RNA(lncRNA),其余的是主要参与碳水化合物代谢、蛋白质降解等的蛋白质。TRAS 作为一种不依赖参考基因组的关联研究的有效工具,将关联研究的适用性扩展到了广泛的物种。