Olson Peter D, Tracey Alan, Baillie Andrew, James Katherine, Doyle Stephen R, Buddenborg Sarah K, Rodgers Faye H, Holroyd Nancy, Berriman Matt
Department of Life Sciences, Natural History Museum, Cromwell Road, London, SW7 5BD, UK.
Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
BMC Biol. 2020 Nov 9;18(1):165. doi: 10.1186/s12915-020-00899-w.
Chromosome-level assemblies are indispensable for accurate gene prediction, synteny assessment, and understanding higher-order genome architecture. Reference and draft genomes of key helminth species have been published, but little is yet known about the biology of their chromosomes. Here, we present the complete genome of the tapeworm Hymenolepis microstoma, providing a reference quality, end-to-end assembly that represents the first fully assembled genome of a spiralian/lophotrochozoan, revealing new insights into chromosome evolution.
Long-read sequencing and optical mapping data were added to previous short-read data enabling complete re-assembly into six chromosomes, consistent with karyology. Small genome size (169 Mb) and lack of haploid variation (1 SNP/3.2 Mb) contributed to exceptionally high contiguity with only 85 gaps remaining in regions of low complexity sequence. Resolution of repeat regions reveals novel gene expansions, micro-exon genes, and spliced leader trans-splicing, and illuminates the landscape of transposable elements, explaining observed length differences in sister chromatids. Syntenic comparison with other parasitic flatworms shows conserved ancestral linkage groups indicating that the H. microstoma karyotype evolved through fusion events. Strikingly, the assembly reveals that the chromosomes terminate in centromeric arrays, indicating that these motifs play a role not only in segregation, but also in protecting the linear integrity and full lengths of chromosomes.
Despite strong conservation of canonical telomeres, our results show that they can be substituted by more complex, species-specific sequences, as represented by centromeres. The assembly provides a robust platform for investigations that require complete genome representation.
染色体水平的组装对于准确的基因预测、共线性评估以及理解高阶基因组结构而言不可或缺。关键蠕虫物种的参考基因组和草图基因组已发布,但对于其染色体生物学仍知之甚少。在此,我们展示了微小膜壳绦虫的完整基因组,提供了一个参考质量的端到端组装,这代表了螺旋动物/冠轮动物的首个完全组装的基因组,揭示了对染色体进化的新见解。
将长读长测序和光学图谱数据添加到先前的短读长数据中,从而能够将其完全重新组装成六条染色体,这与核型分析一致。小基因组大小(169Mb)和单倍体变异的缺乏(1个单核苷酸多态性/3.2Mb)导致了极高的连续性,在低复杂度序列区域仅剩下85个缺口。重复区域的解析揭示了新的基因扩增、微外显子基因和剪接前导序列的反式剪接,并阐明了转座元件的情况,解释了观察到的姐妹染色单体长度差异。与其他寄生扁虫的共线性比较显示出保守的祖先连锁群,表明微小膜壳绦虫的核型是通过融合事件进化而来的。引人注目的是,组装结果表明染色体以着丝粒阵列结束,这表明这些基序不仅在分离中起作用,而且在保护染色体的线性完整性和全长方面也起作用。
尽管经典端粒具有很强的保守性,但我们的结果表明它们可以被更复杂的、物种特异性的序列所替代,如着丝粒所代表的那样。该组装为需要完整基因组表示的研究提供了一个强大的平台。