利用长读数技术对澳大利亚高山鼬 Bassiana duperreyi 进行基因组组装和注释

Benjamin J Hanrahan, Kirat Alreja, Andre L. M. Reis, J King Chang, Duminda S. B. Dissanayake, Richard J Edwards, Terry Bertozzi, Jillian M Hammond, Denis O'Meally, Ira W Deveson, Arthur Georges, Paul D. Waters, Hardip Rameshbhai Patel
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引用次数: 0

摘要

东部三线石龙子(Bassiana duperreyi)栖息在澳大利亚大陆西南部的高原地区,包括塔斯马尼亚。它是一种卵生物种,在低温孵化条件下会发生性别逆转(从 XX 基因型的雌性变为表型的雄性),因而与众不同。我们展示了一个 Bassiana duperreyi XY 雄性个体的染色体级基因组组装,该组装是利用 Illumina HiC 数据结合 PacBio HiFi 和 ONT 长读数构建的。基因组组装长度为 1.57 Gb,支架 N50 为 222 Mbp,N90 为 26 Mbp,间隙为 200,GC 含量为 43.10%。大部分(95%)的装配支架分为 6 条大染色体、8 条小染色体和 X 染色体,与核型相对应。利用基因组减法生成的 Y 染色体特异性等位基因,鉴定出了破碎的 Y 染色体支架(n=11 ≥1 Mbp)。我们在推定的中心粒中发现了两个新的α-卫星重复序列,分别为187 bp和199 bp,它们没有形成高阶重复序列。基因组组装超过了地球生物基因组计划推荐的标准:0.02%的错误扩展、99.63%的kmer完整性、94.66%的完整单拷贝BUSCO基因以及平均98.42%的转录组数据可映射到基因组组装。线粒体基因组(17,506 bp)和模式 rDNA 重复单元(15,154 bp)已组装完成。B. duperreyi 的基因组组装是目前完成度最高的石龙子基因组组装之一,将为性别决定和热性反转研究提供资源,并可作为研究胎生进化的卵生基础物种,还可用于其他石龙子科动物的比较基因组学研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A genome assembly and annotation for the Australian alpine skink Bassiana duperreyi using long-read technologies
The eastern three-lined skink (Bassiana duperreyi) inhabits the Australian high country in the southwest of the continent including Tasmania. It is an oviparous species that is distinctive because it undergoes sex reversal (from XX genotypic females to phenotypic males) at low incubation temperatures. We present a chromosome-scale genome assembly of a Bassiana duperreyi XY male individual, constructed using a combination of PacBio HiFi and ONT long reads scaffolded using Illumina HiC data. The genome assembly length is 1.57 Gb with a scaffold N50 of 222 Mbp, N90 of 26 Mbp, 200 gaps and 43.10% GC content. Most (95%) of the assembly is scaffolded into 6 macrochromosomes, 8 microchromosomes and the X chromosome, corresponding to the karyotype. Fragmented Y chromosome scaffolds (n=11 ≥1 Mbp) were identified using Y-specific contigs generated by genome subtraction. We identified two novel alpha-satellite repeats of 187 bp and 199 bp in the putative centromeres that did not form higher order repeats. The genome assembly exceeds the standard recommended by the Earth Biogenome Project; 0.02% false expansions, 99.63% kmer completeness, 94.66% complete single copy BUSCO genes and an average 98.42% of transcriptome data mappable to the genome assembly. The mitochondrial genome (17,506 bp) and the model rDNA repeat unit (15,154 bp) were assembled. The B. duperreyi genome assembly has one of the highest completeness levels for a skink and will provide a resource for research focused on sex determination and thermolabile sex reversal, as an oviparous foundation species for studies of the evolution of viviparity, and for other comparative genomics studies of the Scincidae.
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