Chromosome-Level Reference Genome of the Ponza Grayling (Hipparchia sbordonii), an Italian Endemic and Endangered Butterfly.

IF 3.2 2区 生物学 Q2 EVOLUTIONARY BIOLOGY
Sebastiano Fava, Marco Sollitto, Mbarsid Racaku, Alessio Iannucci, Andrea Benazzo, Lorena Ancona, Paolo Gratton, Fiorella Florian, Alberto Pallavicini, Claudio Ciofi, Donatella Cesaroni, Marco Gerdol, Valerio Sbordoni, Giorgio Bertorelle, Emiliano Trucchi
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Abstract

Islands are crucial evolutionary hotspots, providing unique opportunities for differentiation of novel biodiversity and long-term segregation of endemic species. Islands are also fragile ecosystems, where biodiversity is more exposed to environmental and anthropogenic pressures than on continents. The Ponza grayling, Hipparchia sbordonii, is an endemic butterfly species that is currently found only in two tiny islands of the Pontine archipelago, off the coast of Italy, occupying an area smaller than 10 km2. It has been classified as Endangered (IUCN) because of the extremely limited area of occurrence, population fragmentation, and the recent demographic decline. Thanks to a combination of different assemblers of long and short genomic reads, bulk transcriptome RNAseq, and synteny analysis with phylogenetically close butterflies, we produced a highly contiguous, chromosome-scale annotated reference genome for the Ponza grayling, including 28 autosomes and the Z sexual chromosomes. The final assembly spanned 388.61 Gb with a contig N50 of 14.5 Mb and a BUSCO completeness score of 98.5%. Synteny analysis using four other butterfly species revealed high collinearity with Hipparchia semele and highlighted 10 intrachromosomal inversions longer than 10 kb, of which two appeared on the lineage leading to H. sbordonii. Our results show that a chromosome-scale reference genome is attainable also when chromatin conformation data may be impractical or present specific technical challenges. The high-quality genomic resource for H. sbordonii opens up new opportunities for the accurate assessment of genetic diversity and genetic load and for the investigations of the genomic novelties characterizing the evolutionary path of this endemic island species.

意大利特有的濒危蝴蝶 Ponza Grayling(Hipparchia sbordonii)的染色体级参考基因组。
岛屿是重要的进化热点,为新生物多样性的分化和特有物种的长期隔离提供了独特的机会。岛屿也是脆弱的生态系统,与大陆相比,生物多样性更容易受到环境和人为压力的影响。Ponza 灰蝶(Hipparchia sbordonii)是一种特有的蝴蝶物种,目前仅在意大利沿海的蓬廷群岛的两个小岛上发现,占地面积不到 10 平方公里。由于其分布区域极为有限、种群破碎化以及最近的人口减少,它已被列为濒危物种(世界自然保护联盟)。借助长短基因组读数的不同组装器、大容量转录组 RNAseq 以及与系统发育关系相近的蝴蝶的同源分析,我们为庞萨灰尾蝶类建立了一个高度连续、染色体规模的注释参考基因组,其中包括 28 条常染色体和 Z 性染色体。最终的组装跨越 388.61 Gb,连片 N50 为 14.5 Mb,BUSCO 完整性得分为 98.5%。利用其他 4 个蝴蝶物种进行的合成分析表明,这些物种与 Hipparchia semele 有很高的共线性,并突出显示了 10 个长度超过 10 kb 的染色体内倒位,其中两个出现在 H. sbordonii 的前系中。我们的研究结果表明,在染色质构象数据不切实际或存在特定技术挑战的情况下,染色体规模的参考基因组也是可以实现的。H. sbordonii 的高质量基因组资源为准确评估遗传多样性和遗传负荷以及研究这一特有岛屿物种进化路径的基因组新特征提供了新的机会。
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来源期刊
Genome Biology and Evolution
Genome Biology and Evolution EVOLUTIONARY BIOLOGY-GENETICS & HEREDITY
CiteScore
5.80
自引率
6.10%
发文量
169
审稿时长
1 months
期刊介绍: About the journal Genome Biology and Evolution (GBE) publishes leading original research at the interface between evolutionary biology and genomics. Papers considered for publication report novel evolutionary findings that concern natural genome diversity, population genomics, the structure, function, organisation and expression of genomes, comparative genomics, proteomics, and environmental genomic interactions. Major evolutionary insights from the fields of computational biology, structural biology, developmental biology, and cell biology are also considered, as are theoretical advances in the field of genome evolution. GBE’s scope embraces genome-wide evolutionary investigations at all taxonomic levels and for all forms of life — within populations or across domains. Its aims are to further the understanding of genomes in their evolutionary context and further the understanding of evolution from a genome-wide perspective.
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