Probable presence of an ubiquitous cryptic mitochondrial gene on the antisense strand of the cytochrome oxidase I gene

<p>Abstract</p> <p>Background</p> <p>Mitochondria mediate most of the energy production that occurs in the majority of eukaryotic organisms. These subcellular organelles contain a genome that differs from the nuclear genome and is referred to as mitochondrial DNA (mtDNA). Despite a disparity in gene content, all mtDNAs encode at least two components of the mitochondrial electron transport chain, including cytochrome <it>c </it>oxidase I (Cox1).</p> <p>Presentation of the hypothesis</p> <p>A positionally conserved ORF has been found on the complementary strand of the <it>cox1 </it>genes of both eukaryotic mitochondria (protist, plant, fungal and animal) and alpha-proteobacteria. This putative gene has been named <it>gau </it>for gene antisense ubiquitous in mtDNAs. The length of the deduced protein is approximately 100 amino acids. In vertebrates, several stop codons have been found in the mt <it>gau </it>region, and potentially functional <it>gau </it>regions have been found in nuclear genomes. However, a recent bioinformatics study showed that several hypothetical overlapping mt genes could be predicted, including <it>gau; </it>this involves the possible import of the cytosolic AGR tRNA into the mitochondria and/or the expression of mt antisense tRNAs with anticodons recognizing AGR codons according to an alternative genetic code that is induced by the presence of suppressor tRNAs. Despite an evolutionary distance of at least 1.5 to 2.0 billion years, the deduced Gau proteins share some conserved amino acid signatures and structure, which suggests a possible conserved function. Moreover, BLAST analysis identified rare, sense-oriented ESTs with poly(A) tails that include the entire <it>gau </it>region. Immunohistochemical analyses using an anti-Gau monoclonal antibody revealed strict co-localization of Gau proteins and a mitochondrial marker.</p> <p>Testing the hypothesis</p> <p>This hypothesis could be tested by purifying the <it>gau </it>gene product and determining its sequence. Cell biological experiments are needed to determine the physiological role of this protein.</p> <p>Implications of the hypothesis</p> <p>Studies of the <it>gau </it>ORF will shed light on the origin of novel genes and their functions in organelles and could also have medical implications for human diseases that are caused by mitochondrial dysfunction. Moreover, this strengthens evidence for mitochondrial genes coded according to an overlapping genetic code.</p

True Mitochondrial tRNA Punctuation and Initiation Using Overlapping Stop and Start Codons at Specific and Conserved Positions

In all the taxa and genomic systems, numerous trn genes (specifying tRNA) exhibit at specific conserved positions nucleotide triplets corresponding to stop codons (TAG/TAA). Similarly, relatively high frequencies of start codons (ATG/ATA) occur in fungi/metazoan mitochondrial-trn genes. The last nucleotide of these triplets is the first involved in the 5′-D- or 5′-T-stem, respectively. Their frequencies are tRNA species dependent. The products of these genes which bear one or two types of these codons are called ss-tRNAs (for stop/start). Metazoan mt-genomes are generally very compact, and many same strand overlapping sequences may simultaneously code for tRNAs and mRNAs. However, this study suggests that overlaps are not a direct mechanism to substantially reduce genome size. For protein-encoding genes, occulting possible overlaps, there are only alternative start codons and/or truncated stop codons, but the first putative in-frame standard initiation codon or complete stop codon is in the upstream or downstream overlapping ss-trn sequences, respectively. Even if, to date, experimental data are missing, stress signals might regulate producing extended or not proteins. Finally, possible implications of tRNA/mRNA hybrid molecules in the “RNA world” to “RNA/protein world” transition will be discussed

Swinger RNAs in the Human Mitochondrial Transcriptome

Transcriptomes include coding and non-coding RNAs and RNA fragments with no apparent homology to parent genomes. Non-canonical transcriptions systematically transforming template DNA sequences along precise rules explain some transcripts. Among these systematic transformations, 23 systematic exchanges between nucleotides, i.e. 9 symmetric (X ↔ Y, e.g. C ↔ T) and 14 asymmetric (X → Y → Z → X, e.g. A → T → G → A) exchanges. Here, comparisons between mitochondrial swinger RNAs previously detected in a complete human transcriptome dataset (including cytosolic RNAs) and swinger RNAs detected in purified mitochondrial transcriptomic data (not including cytosolic RNAs) show high reproducibility and exclude cytosolic contaminations. These results based on next-generation sequencing Illumina technology confirm detections of mitochondrial swinger RNAs in GenBank’s EST database sequenced by the classical Sanger method, assessing the existence of swinger polymerizations

Directed Mutations Recode Mitochondrial Genes: From Regular to Stopless Genetic Codes

Mitochondrial genetic codes evolve as side effects of stop codon ambiguity: suppressor tRNAs with anticodons translating stops transform genetic codes to stopless genetic codes. This produces peptides from frames other than regular ORFs, potentially increasing protein numbers coded by single sequences. Previous descriptions of marine turtle Olive Ridley mitogenomes imply directed stop-depletion of noncoding +1 gene frames, stop-creation recodes regular ORFs to stopless genetic codes. In this analysis, directed stop codon depletion in usually noncoding gene frames of the spiraling whitefly Aleurodicus dispersusʼ mitogenome produces new ORFs, introduces stops in regular ORFs, and apparently increases coding redundancy between different gene frames. Directed stop codon mutations switch between peptides coded by regular and stopless genetic codes. This process seems opposite to directed stop creation in HIV ORFs within genomes of immunized elite HIV controllers. Unknown DNA replication/edition mechanisms probably direct stop creation/depletion beyond natural selection on stops. Switches between genetic codes regulate translation of different gene frames

Population genomics of marine zooplankton

Author Posting. © The Author(s), 2017. This is the author's version of the work. It is posted here for personal use, not for redistribution. The definitive version was published in Bucklin, Ann et al. "Population Genomics of Marine Zooplankton." Population Genomics: Marine Organisms. Ed. Om P. Rajora and Marjorie Oleksiak. Springer, 2018. doi:10.1007/13836_2017_9.The exceptionally large population size and cosmopolitan biogeographic distribution that distinguish many – but not all – marine zooplankton species generate similarly exceptional patterns of population genetic and genomic diversity and structure. The phylogenetic diversity of zooplankton has slowed the application of population genomic approaches, due to lack of genomic resources for closelyrelated species and diversity of genomic architecture, including highly-replicated genomes of many crustaceans. Use of numerous genomic markers, especially single nucleotide polymorphisms (SNPs), is transforming our ability to analyze population genetics and connectivity of marine zooplankton, and providing new understanding and different answers than earlier analyses, which typically used mitochondrial DNA and microsatellite markers. Population genomic approaches have confirmed that, despite high dispersal potential, many zooplankton species exhibit genetic structuring among geographic populations, especially at large ocean-basin scales, and have revealed patterns and pathways of population connectivity that do not always track ocean circulation. Genomic and transcriptomic resources are critically needed to allow further examination of micro-evolution and local adaptation, including identification of genes that show evidence of selection. These new tools will also enable further examination of the significance of small-scale genetic heterogeneity of marine zooplankton, to discriminate genetic “noise” in large and patchy populations from local adaptation to environmental conditions and change.Support was provided by the US National Science Foundation to AB and RJO (PLR-1044982) and to RJO (MCB-1613856); support to IS and MC was provided by Nord University (Norway)

Mitochondrial genomic landscape: A portrait of the mitochondrial genome 40 years after the first complete sequence

open3noNotwithstanding the initial claims of general conservation, mitochondrial genomes are a largely heterogeneous set of organellar chromosomes which displays a bewildering diversity in terms of structure, architecture, gene content, and functionality. The mitochondrial genome is typically described as a single chromosome, yet many examples of multipartite genomes have been found (for example, among sponges and diplonemeans); the mitochondrial genome is typically depicted as circular, yet many linear genomes are known (for example, among jellyfish, alveolates, and apicomplexans); the chromosome is normally said to be “small”, yet there is a huge variation between the smallest and the largest known genomes (found, for example, in ctenophores and vascular plants, respectively); even the gene content is highly unconserved, ranging from the 13 oxidative phosphorylation-related enzymatic subunits encoded by animal mitochondria to the wider set of mitochondrial genes found in jakobids. In the present paper, we compile and describe a large database of 27,873 mitochondrial genomes currently available in GenBank, encompassing the whole eukaryotic domain. We discuss the major features of mitochondrial molecular diversity, with special reference to nucleotide composition and compositional biases; moreover, the database is made publicly available for future analyses on the MoZoo Lab GitHub page.openFormaggioni A.; Luchetti A.; Plazzi F.Formaggioni A.; Luchetti A.; Plazzi F

Mitochondrial differentiation, introgression and phylogeny of species in the Tegenaria atrica group (Araneae, Agelenidae)

The relationships between the three members of the Tegenaria atrica group (T. atrica, T. saeva and T. gigantea) were examined with DNA sequence data from mitochondrial CO1, 16S rRNA, tRNAleu(CUN) and ND1 genes. Members of this group of large house spiders have overlapping distributions in western Europe and hybridize with each other to a variable degree. The close relatedness of all three species was supported by all analyses. T. saeva and T. gigantea are more closely affiliated than either is to T. atrica. Haplotypes clearly assignable to T. gigantea were also present in many specimens of T. saeva suggesting asymmetrical introgression of mtDNA from T. gigantea into T. saeva. Molecular clock calibrations (CO1) suggest that deeper divisions within the genus Tegenaria may be in excess of 10 million years old, and that the evolutionary history of the T. atrica group has been moulded by Quaternary glacial-interglacial cycles

The evolution of the mitochondrial genomes of calcareous sponges and cnidarians

The mitochondrial DNA (mtDNA) in animals (Metazoa) is a favorite molecule for phylogenetic studies given its relative uniformity in both size and organization. Yet, as the depth coverage of representative animal groups increases sharply thanks to recent advances in sequencing technology, some clades remain stubbornly under sampled, if even represented at all. Difficulties associated with data collection from problematic taxa can arise from highly derived sequences, fragmented genomes, unusual structure, or any combination of these. Particularly illustrative examples are found in non-bilaterian animals (placozoans, sponges, cnidarians, comb jellies) where the mtDNA is more variable in size and structure. The present dissertation provides several case studies of what is considered “unusual” mtDNA for animals. First, we describe some unusual characteristics of the mitochondrial genomes found in calcareous sponges (Calcarea, Porifera), where one, potentially two, novel genetic codes are inferred, transfer RNAs (tRNAs) are edited, and ribosomal RNA (rRNA) genes are in pieces. We also hypothesize that the mtDNA is linear and multipartite. Then, we explore the evolution of the mtDNA in medusozoan cnidarians (Medusozoa, Cnidaria). The mtDNA in Medusozoa is linear, and encodes two extra protein genes (lost in one clade) putatively involved in the maintenance and replication of the linear chromosomes. In addition, secondary segmentalization has occurred independently in some hydras (Hydridae) and box jellies (Cubozoa). Using the sequences from these mito-genomes, we propose a new phylogeny for Cnidaria, providing additional support for the clade [Medusozoa + Octocorallia], rendering Anthozoa (Hexacorallia + Octocorallia) paraphyletic. Finally, this dissertation concludes by a mini review stating the current state of knowledge of metazoan mtDNA and some of the pitfalls in the field of mitogenomics. In particular, the new findings further challenge the classical idea of a uniform mtDNA organization (frozen genome) in animals, and question any directional explanation of the evolution of the mtDNA in animals

Molecular Phylogenetics and Mitochondrial Evolution

The aim of the present Special Issue is to address the state-of-art of mitochondrial genomics and phylogenomics. Mitochondrial markers are widespread in phylogenetics; however, it is becoming increasingly clear that (i) many discordance issues arise with respect to nuclear markers and (ii) many features that are normally considered 'typical' for the mitochondrial genome are indeed highly unstable and unconserved

The Mystery of the Chaetognatha: A Molecular Phylogenetic Approach Using Pelagic Chaetognath Species on Pelican Island, Galveston, Texas

The phylum Chaetognatha is a mysterious group of organisms that has eluded scientists for more than a century because of their unique morphology and developmental characteristics, i.e. protostome (mouth develops from blastopore; e.g. mollusks, annelids, arthropods) versus deuterostome (anus develops from blastopore; e.g. echinoderms and chordates) offer few clues to their evolutionary origins. Some early morphological studies argued that chaetognaths were derived mollusks or nematodes according to gross ultrastructural data, while other studies focused on the coelomic cavity. 33 Although 18S rRNA is widely used in molecular phylogeny studies, it has limits such as long- branch chain attractions and a slow rate of evolutionary change. Long-branch chain attractions are a phenomenon in phylogenetic analyses when rapidly evolving lineages are inferred to be closely related, regardless of their true evolutionary relationships. Hence other genes are used in this study to complement the 18S rRNA such as the cytochrome oxidase genes. The cytochrome oxidase genes are highly conserved throughout all eukaryotic organisms and they are less ambiguous to align as compared to the ribosomal genes, making them better phylogenetic markers as compared to the 18S rRNA gene. This study focuses on using a molecular approach (ARDRA, PCR, phylogenetic tree reconstruction) to determine the phylogeny of pelagic chaetognaths found on Pelican Island, Galveston, Texas. 18S rRNA, Cytochrome Oxidase I and Cytochrome Oxidase II genes were used to help decipher the phylogeny of this group. All analyzed genes in this study (18S rRNA, COI, and COII) grouped the Pelican Island chaetognaths with the protostomes. The maximum parsimony bootstrap tree for the 18S rRNA gene, grouped the samples closest to the arthropods (protostome). For the COI and COII genes, the minimum evolution bootstrap tree grouped the 8 collected samples more closely to two other protostome phyla: the mollusks and annelids (COI) while bootstrapping with the COII grouped the samples with the nematodes (with >66 percent bootstrap). My findings are significant because they reveal phylogenetic results of a protostome lineage for the Chaetognatha using 3 genes, one of which (COII) has not been greatly studied for the Chaetognatha