Department of Biological Sciences, University of Rhode Island, 120 Flagg Road, Kingston, RI 02881, USA.
Center for Coastal Marine Sciences, California Polytechnic State University, 1 Grand Avenue, San Luis Obispo, CA 93407, USA.
Philos Trans R Soc Lond B Biol Sci. 2021 May 24;376(1825):20200164. doi: 10.1098/rstb.2020.0164. Epub 2021 Apr 5.
Genomic structural variation is an important source of genetic and phenotypic diversity, playing a critical role in evolution. The recent availability of a high-quality reference genome for the eastern oyster, , and whole-genome sequence data of samples from across the species range in the USA, provides an opportunity to explore structural variation across the genome of this species. Our analysis shows significantly greater individual-level duplications of regions across the genome than that of most model vertebrate species. Duplications are widespread across all ten chromosomes with variation in frequency per chromosome. The eastern oyster shows a large interindividual variation in duplications as well as particular chromosomal regions with a higher density of duplications. A high percentage of duplications seen in lie completely within genes and exons, suggesting the potential for impacts on gene function. These results support the hypothesis that structural changes may play a significant role in standing genetic variation in , and potentially have a role in their adaptive and evolutionary success. Altogether, these results suggest that copy number variation plays an important role in the genomic variation of . This article is part of the Theo Murphy meeting issue 'Molluscan genomics: broad insights and future directions for a neglected phylum'.
基因组结构变异是遗传和表型多样性的重要来源,在进化中起着关键作用。最近获得了高质量的东方牡蛎参考基因组,以及来自美国的整个物种范围内的样本的全基因组序列数据,为探索该物种基因组中的结构变异提供了机会。我们的分析表明,个体水平的基因组区域重复比大多数模式脊椎动物物种都要多。重复在所有十个染色体上广泛存在,每个染色体的频率不同。东方牡蛎在个体间的重复变化很大,而且某些染色体区域的重复密度更高。在 中看到的大量重复中有很大一部分完全在基因和外显子内,这表明可能对基因功能产生影响。这些结果支持了结构变化可能在 中具有重要作用的假设,并且可能在其适应性和进化成功中发挥作用。总的来说,这些结果表明,拷贝数变异在 的基因组变异中起着重要作用。本文是 Theo Murphy 会议议题“软体动物基因组学:一个被忽视的门的广泛见解和未来方向”的一部分。