Key Laboratory for Bio-Resource and Eco-Environment of Ministry of Education & Sichuan Zoige Alpine Wetland Ecosystem National Observation and Research Station, College of Life Science, Sichuan University, Chengdu, China.
State Key Laboratory of Dao-Di Herbs, Beijng, 100700, People's Republic of China.
BMC Biol. 2023 Apr 17;21(1):87. doi: 10.1186/s12915-023-01587-1.
Two widely cultivated annual buckwheat crops, Fagopyrum esculentum and F. tataricum, differ from each other in both rutin concentration and reproductive system. However, the underlying genetic mechanisms remain poorly elucidated.
Here, we report the first haplotype-resolved chromosome-level genome assemblies of the two species. Two haplotype genomes of F. esculentum were assembled as 1.23 and 1.19 Gb with N50 = 9.8 and 12.4 Mb, respectively; the two haplotype genomes of F. tataricum were 453.7 and 446.2 Mb with N50 = 50 and 30 Mb, respectively. We further annotated protein-coding genes of each haplotype genome based on available gene sets and 48 newly sequenced transcriptomes. We found that more repetitive sequences, especially expansion of long terminal repeat retrotransposons (LTR-RTs), contributed to the large genome size of F. esculentum. Based on the well-annotated sequences, gene expressions, and luciferase experiments, we identified the sequence mutations of the promoter regions of two key genes that are likely to have greatly contributed to the high rutin concentration and selfing reproduction in F. tartaricum.
Our results highlight the importance of high-quality genomes to identify genetic mutations underlying phenotypic differences between closely related species. F. tataricum may have been experienced stronger selection than F. esculentum through choosing these two non-coding alleles for the desired cultivation traits. These findings further suggest that genetic manipulation of the non-coding promoter regions could be widely employed for breeding buckwheat and other crops.
两种广泛种植的一年生荞麦作物,苦荞(Fagopyrum esculentum)和鞑靼荞麦(F. tataricum),在芦丁浓度和生殖系统上存在差异。然而,其潜在的遗传机制仍不清楚。
本研究报道了这两个物种的首个单倍型分辨率染色体水平基因组组装。苦荞的两个单倍型基因组分别组装成 1.23 和 1.19 Gb,N50 值分别为 9.8 和 12.4 Mb;鞑靼荞麦的两个单倍型基因组分别为 453.7 和 446.2 Mb,N50 值分别为 50 和 30 Mb。我们进一步基于现有基因集和 48 个新测序的转录组,对每个单倍型基因组的编码蛋白基因进行注释。我们发现,更多的重复序列,特别是长末端重复逆转录转座子(LTR-RTs)的扩张,导致了苦荞基因组的庞大。基于注释良好的序列、基因表达和荧光素酶实验,我们鉴定出两个关键基因启动子区域的序列突变,这很可能极大地促进了鞑靼荞麦中芦丁浓度和自交繁殖的提高。
我们的研究结果强调了高质量基因组在识别近缘物种表型差异背后遗传突变的重要性。鞑靼荞麦可能经历了比苦荞更强的选择,通过选择这两个非编码等位基因来获得所需的栽培性状。这些发现进一步表明,对非编码启动子区域的遗传操作可以广泛应用于荞麦和其他作物的育种。