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Gene annotation errors are common in the mammalian mitochondrial genomes database

机译:基因注释误差在哺乳动物线粒体基因组数据库中常见

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摘要

Although animal mitochondrial DNA sequences are known to evolve rapidly, their gene arrangements often remain unchanged over long periods of evolutionary time. Therefore, comparisons of mitochondrial genomes may result in significant insights into the evolution both of organisms and of genomes. Mammalian mitochondrial genomes recently published in the GenBank database of NCBI show numerous rearrangements in various regions of the genome, from which it may be inferred that the mammalian mitochondrial genome is more dynamic than expected. However, it is alternatively possible that these are errors of annotation and, if so, are misleading our interpretations. In order to verify these possible errors of annotation, we performed a comparative genomic analysis of mammalian mitochondrial genomes available in the NCBI database. Using a combination of bioinformatics methods to carefully examine the mitochondrial gene arrangements in 304 mammalian species, we determined that there are only two sets of gene arrangements, one that is shared by all of the marsupials and another that is shared by all of the monotremes and eutherians, with these two arrangements differing only by the positions of tRNA genes in the region commonly designated as "WANCY" for the genes it comprises. All of the 68 other cases of reported gene rearrangements are errors. We note that there are also numerous errors of impossibly short, incorrect gene annotations, cases where genomes that are reported as complete are actually missing portions of the sequence, and genes that are clearly present but were not annotated in these records. We judge that the application of simple bioinformatic tools in the verification of gene annotation, particularly for organelle genomes, would be a very useful enhancement for the curation of genome sequences submitted to GenBank.
机译:虽然已知动物线粒体DNA序列迅速发展,但它们的基因布置通常在长时间的进化时间内保持不变。因此,线粒体基因组的比较可能导致对生物和基因组的进化的显着洞察。最近发表在NCBI的Genbank数据库中的哺乳动物线粒体基因组在基因组的各个区域中显示出许多重排,从中可以推断出哺乳动物线粒体基因组比预期更加动态。然而,替代地,这些是注释的错误,如果是的话,误导我们的解释。为了验证这些可能的注释误差,我们对NCBI数据库中可用的哺乳动物线粒体基因组进行了比较基因组分析。使用生物信息学方法的组合仔细检查304种哺乳动物物种中的线粒体基因排列,我们确定只有两组基因安排,其中一组由所有蒙昧主义和另一个人分享的一个组织和另一组埃夫特兰人,这两个安排只有在通常被指定为其包含的基因的区域中的TRNA基因的位置不同。所有68例报告基因重排的其他病例都是错误。我们注意到,也存在许多不可思议的短暂性的误差,不正确的基因注释,其中报告的基因组的情况实际上缺少序列的部分,以及清楚存在但在这些记录中没有注释的基因。我们判断简单的生物信息工具在验证基因注释中的应用,特别是对于细胞器基因组,这对于提交给Genbank的基因组序列的策序是非常有用的增强。

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