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

IF 2.2 3区 生物学 Q3 GENETICS & HEREDITY G3: Genes|Genomes|Genetics Pub Date : 2025-06-04 DOI:10.1093/g3journal/jkaf046
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 Waters, Hardip R Patel
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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.

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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。
东部三纹石龙子(Bassiana duperreyi)生活在包括塔斯马尼亚岛在内的澳大利亚大陆东南部的高地。它是一种独特的卵生物种,因为它在低孵化温度下经历了性别逆转(从XX基因型的雌性到表型型的雄性)。我们展示了一种Bassiana duperreyi XY雄性个体的染色体尺度基因组组装,该基因组组装使用PacBio HiFi和ONT长读数构建,使用Illumina HiC数据作为支架。基因组组装长度为1.57 Gbp,支架N50为222 Mbp, N90为26 Mbp,间隙200个,GC含量43.10%。大部分(95%)组装成6条大染色体、8条微染色体和X染色体,与核型相对应。利用基因组减法产生的Y特异性contigs,鉴定出碎片化的Y染色体支架(n=11 > 1 Mbp)。我们在假设的着丝粒中发现了两个新的187bp和1999bp的α -卫星重复序列,它们没有形成高阶重复序列。基因组组装超过地球生物基因组计划推荐的标准;假扩增率为0.02%,kmer完备性为99.63%,单拷贝BUSCO基因完备率为94.66%,转录组数据平均为98.42%。组装线粒体基因组(17,506 bp)和模型rDNA重复单元(15,154 bp)。B. duperreyi基因组具有较高的完整性,将为以性别决定和耐热性反转为重点的研究提供资源,作为胎生进化研究的卵生基础物种,以及其他Scincidae比较基因组学研究的基础物种。
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来源期刊
G3: Genes|Genomes|Genetics
G3: Genes|Genomes|Genetics GENETICS & HEREDITY-
CiteScore
5.10
自引率
3.80%
发文量
305
审稿时长
3-8 weeks
期刊介绍: G3: Genes, Genomes, Genetics provides a forum for the publication of high‐quality foundational research, particularly research that generates useful genetic and genomic information such as genome maps, single gene studies, genome‐wide association and QTL studies, as well as genome reports, mutant screens, and advances in methods and technology. The Editorial Board of G3 believes that rapid dissemination of these data is the necessary foundation for analysis that leads to mechanistic insights. G3, published by the Genetics Society of America, meets the critical and growing need of the genetics community for rapid review and publication of important results in all areas of genetics. G3 offers the opportunity to publish the puzzling finding or to present unpublished results that may not have been submitted for review and publication due to a perceived lack of a potential high-impact finding. G3 has earned the DOAJ Seal, which is a mark of certification for open access journals, awarded by DOAJ to journals that achieve a high level of openness, adhere to Best Practice and high publishing standards.
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