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利用长读长技术对澳大利亚高山石龙子(Bassiana duperreyi)进行基因组组装和注释。

A genome assembly and annotation for the Australian alpine skink Bassiana duperreyi using long-read technologies.

作者信息

Hanrahan Benjamin J, Alreja Kirat, Reis Andre L M, Chang J King, Dissanayake Duminda S B, Edwards Richard J, Bertozzi Terry, Hammond Jillian M, O'Meally Denis, Deveson Ira W, Georges Arthur, Waters Paul, Patel Hardip R

机构信息

School of Biotechnology and Biomolecular Science, Faculty of Science, University of New South Wales, Sydney, Sydney, NSW 2052, Australia.

John Curtin School of Medical Research, The Australian National University, Canberra, ACT 2601, Australia.

出版信息

G3 (Bethesda). 2025 Jun 4;15(6). doi: 10.1093/g3journal/jkaf046.

Abstract

The eastern 3-lined skink (Bassiana duperreyi) inhabits the Australian high country in the southeast of the continent including Tasmania. It is a distinctive oviparous species 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 B. duperreyi XY male individual, constructed using PacBio HiFi and Oxford Nanopore Technologies long reads scaffolded using Illumina HiC data. The genome assembly length is 1.57 Gb with a scaffold N50 of 222 Mb, N90 of 26 Mb, 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 Mb) were identified using Y-specific contigs generated by genome subtraction. We identified 2 novel alpha-satellite repeats of 187 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% k-mer completeness, 94.66% complete single-copy Benchmarking Universal Single-Copy Orthologs 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 high completeness 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.

摘要

东部三线石龙子(Bassiana duperreyi)栖息于澳大利亚大陆东南部的高地,包括塔斯马尼亚岛。它是一种独特的卵生物种,因为在较低的孵化温度下会发生性逆转(从XX基因型雌性转变为表型雄性)。我们展示了一个B. duperreyi XY雄性个体的染色体级基因组组装,该组装使用PacBio HiFi和牛津纳米孔技术的长读长,并利用Illumina HiC数据进行支架搭建。基因组组装长度为1.57 Gb,支架N50为222 Mb,N90为26 Mb,有200个间隙,GC含量为43.10%。大部分(95%)的组装被支架搭建到6条大染色体、8条小染色体和X染色体上,与核型相对应。通过基因组减法产生的Y特异性重叠群鉴定出了碎片化的Y染色体支架(n = 11≥1 Mb)。我们在假定的着丝粒中鉴定出2个新的187和199 bp的α卫星重复序列,它们没有形成高阶重复序列。该基因组组装超过了地球生物基因组计划推荐的标准:错误扩展率为0.02%,k-mer完整性为99.63%,完整单拷贝基准通用单拷贝直系同源基因的完整性为94.66%,平均98.42%的转录组数据可映射到基因组组装上。组装了线粒体基因组(17,506 bp)和模型rDNA重复单元(15,154 bp)。B. duperreyi基因组组装对于石龙子来说具有很高的完整性,将为专注于性别决定和温度敏感型性逆转的研究提供资源,作为胎生进化研究的卵生基础物种以及石龙子科的其他比较基因组学研究的资源。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8fb/12134992/9a9fa6dc5be6/jkaf046f1.jpg

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