Chapman Mark A
University of Southampton, School of Biological Sciences, Highfield Campus, Southampton, SO17 1BJ, UK.
Breed Sci. 2025 Mar;75(1):61-66. doi: 10.1270/jsbbs.24055. Epub 2025 Feb 5.
Individuals across a species exhibit substantial presence-absence variation, to the extent that a reference genome from a single individual only contains a subset of the species' genome. Cataloguing genome regions absent from a reference genome can therefore reveal novel genome regions, and some of this variation can be adaptive. In this work, existing short sequencing reads for the underutilised crop lablab ( (L.) Sweet) were used to identify regions of the genome absent from the reference genome. Lablab is made up of two distinct gene pools, each with wild and domesticated types therefore represents an opportunity to identify gene pool-specific variation. Approximately 7.7% of the reads from eight accessions failed to map to the lablab reference genome (cv. Highworth), putatively being novel, and these were assembled and collapsed into between 735 and 12,304 contigs. Four samples were focussed on (one each wild and domesticated from each of the gene pools) and the novel contigs compared, to identify those present only in subsets of samples. Whilst the number of contigs containing sequenced with similarity to known genes in other legumes was low, there were some enriched gene ontology (GO) terms that could relate to adaptive differences between the groups and therefore contain novel genes for future lablab breeding. The approached used here has potential use in any other species.
一个物种内的个体在基因存在与否方面表现出显著差异,以至于单个个体的参考基因组仅包含该物种基因组的一个子集。因此,对参考基因组中缺失的基因组区域进行编目可以揭示新的基因组区域,并且其中一些变异可能具有适应性。在这项研究中,利用未充分利用的作物扁豆(Lablab purpureus (L.) Sweet)现有的短测序 reads 来识别参考基因组中缺失的基因组区域。扁豆由两个不同的基因库组成,每个基因库都有野生型和驯化型,因此这是一个识别基因库特异性变异的机会。来自八个种质的大约7.7% 的 reads 未能映射到扁豆参考基因组(cv. Highworth),推测为新的序列,这些序列被组装并压缩成735至12,304个重叠群。研究聚焦于四个样本(每个基因库各一个野生型和一个驯化型),并比较了新的重叠群,以识别仅存在于部分样本中的重叠群。虽然与其他豆科植物中已知基因具有相似性的重叠群数量较少,但有一些富集的基因本体论(GO)术语可能与不同群体之间的适应性差异有关,因此可能包含未来扁豆育种的新基因。这里使用的方法在任何其他物种中都有潜在的应用价值。