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利用 RNA 测序检测完整红海龟和玳瑁海龟线粒体基因组中的高异质性。

Detection of high heteroplasmy in complete loggerhead and hawksbill sea turtles mitochondrial genomes using RNAseq.

机构信息

Department of Natural and Environmental Sciences, Faculty of Science and Engineering, Genetics, Molecular Biology and Bioinformatic Research Group -GENBIMOL, Jorge Tadeo Lozano University, Bogotá, South America.

NCBI, NLM, NIH Computational Biology Branch, Bethesda, MD, USA.

出版信息

Mitochondrial DNA A DNA Mapp Seq Anal. 2021 Apr;32(3):106-114. doi: 10.1080/24701394.2021.1885389. Epub 2021 Feb 25.

Abstract

Sea turtle populations around the world face rapid decline due to the effect of anthropogenic and environmental factors. Among the affected populations are those of hawksbill turtles () and loggerhead turtles (), which is why a greater effort is currently being made in their monitoring and tracing. The intragenic degree of heteroplasmic mutations, commonly associated with diseases of variable symptoms, has not been analyzed in these species. In this study, heteroplasmy in the complete mitogenome (mtDNA) of three loggerhead turtles and one hawksbill turtle was identified from data obtained by RNAseq. Individuals Cc3, Ei1, Cc1 and Cc2 presented 0.3, 1.7, 1.8 and 7.1% of heteroplasmic mutations in all their mtDNA, respectively. The protein-coding genes that presented the highest percentage of heteroplasmy were and in individual Cc2 with 16 and 38.6%, respectively. Of the tRNA genes, only tRNA was heteroplasmic in the four individuals with 5.63% (Cc1), 25.35% (Ei1 and Cc2) and 49.3% (Cc3). In this study, we identified the critical sites of heteroplasmy in each individual and the genetic variability of their mitogenomes. The data obtained represents the baseline for future projects that evaluate the population status of these species.

摘要

由于人为和环境因素的影响,世界各地的海龟种群正迅速减少。受影响的种群包括玳瑁(hawksbill turtles)和红海龟(loggerhead turtles),这就是为什么目前正在对它们进行更多的监测和追踪。在这些物种中,尚未分析与各种症状疾病相关的同基因异质突变的基因内程度。在这项研究中,从 RNAseq 获得的数据中鉴定了三只红海龟和一只玳瑁海龟完整线粒体基因组(mtDNA)中的异质突变。个体 Cc3、Ei1、Cc1 和 Cc2 分别在其所有 mtDNA 中显示 0.3%、1.7%、1.8%和 7.1%的异质突变。在个体 Cc2 中,呈现最高异质突变百分比的蛋白质编码基因分别为和,分别为 16%和 38.6%。在四个个体中,只有 tRNA 在所有 tRNA 基因中呈异质,其百分比分别为 5.63%(Cc1)、25.35%(Ei1 和 Cc2)和 49.3%(Cc3)。在这项研究中,我们确定了每个个体中异质突变的关键部位及其线粒体基因组的遗传变异性。获得的数据代表了评估这些物种种群状况的未来项目的基线。

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本文引用的文献

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Biparental Inheritance of Mitochondrial DNA in Humans.人类线粒体 DNA 的双亲遗传。
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