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Gene annotation errors are common in the mammalian mitochondrial genomes database.

ABSTRACT: BACKGROUND: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. RESULTS: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. CONCLUSIONS: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.

SUBMITTER: Prada CF

PROVIDER: S-EPMC6341679 | biostudies-other | 2019 Jan

REPOSITORIES: biostudies-other

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Gene annotation errors are common in the mammalian mitochondrial genomes database.

Prada Carlos F CF Boore Jeffrey L JL

BMC genomics 20190122 1

<h4>Background</h4>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 ...[more]

PMID: 30669991

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Project description:BackgroundThe genome sequence data of more than 65985 species are publicly available as of October 2021 within the National Center for Biotechnology Information (NCBI) database alone and additional genome sequences are available in other databases and also continue to accumulate at a rapid pace. However, an error-free functional annotation of these genome is essential for the research communities to fully utilize these data in an optimum and efficient manner.ResultsAn analysis of proteome sequence data of 689 fungal species (7.15 million protein sequences) was conducted to identify the presence of functional annotation errors. Proteins associated with calcium signaling events, including calcium dependent protein kinases (CDPKs), calmodulins (CaM), calmodulin-like (CML) proteins, WRKY transcription factors, selenoproteins, and proteins associated with the terpene biosynthesis pathway, were targeted in the analysis. Gene associated with CDPKs and selenoproteins are known to be absent in fungal genomes. Our analysis, however, revealed the presence of proteins that were functionally annotated as CDPK proteins. However, InterproScan analysis indicated that none of the protein sequences annotated as "calcium dependent protein kinase" were found to encode calcium binding EF-hands at the regulatory domain. Similarly, none of a protein sequences annotated as a "selenocysteine" were found to contain a Sec (U) amino acid. Proteins annotated as CaM and CMLs also had significant discrepancies. CaM proteins should contain four calcium binding EF-hands, however, a range of 2-4 calcium binding EF-hands were present in the fungal proteins that were annotated as CaM proteins. Similarly, CMLs should possess four calcium binding EF-hands, but some of the CML annotated fungal proteins possessed either three or four calcium binding EF-hands. WRKY transcription factors are characterized by the presence of a WRKY domain and are confined to the plant kingdom. Several fungal proteins, however, were annotated as WRKY transcription factors, even though they did not contain a WRKY domain.ConclusionThe presence of functional annotation errors in fungal genome and proteome databases is of considerable concern and needs to be addressed in a timely manner.

Dataset Information

Gene annotation errors are common in the mammalian mitochondrial genomes database.

Publications

Gene annotation errors are common in the mammalian mitochondrial genomes database.

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