Duplication-random Loss Model Research Articles

The first mitochondrial genome of the genus Exhippolysmata (Decapoda: Caridea: Lysmatidae), with gene rearrangements and phylogenetic associations in Caridea

The complete mitochondrial genome (mitogenome) of animals can provide useful information for evolutionary and phylogenetic analyses. The mitogenome of the genus Exhippolysmata (i.e., Exhippolysmata ensirostris) was sequenced and annotated for the first time, its phylogenetic relationship with selected members from the infraorder Caridea was investigated. The 16,350 bp mitogenome contains the entire set of 37 common genes. The mitogenome composition was highly A + T biased at 64.43% with positive AT skew (0.009) and negative GC skew (− 0.199). All tRNA genes in the E. ensirostris mitogenome had a typical cloverleaf secondary structure, except for trnS1 (AGN), which appeared to lack the dihydrouridine arm. The gene order in the E. ensirostris mitogenome was rearranged compared with those of ancestral decapod taxa, the gene order of trnL2-cox2 changed to cox2-trnL2. The tandem duplication-random loss model is the most likely mechanism for the observed gene rearrangement of E. ensirostris. The ML and BI phylogenetic analyses place all Caridea species into one group with strong bootstrap support. The family Lysmatidae is most closely related to Alpheidae and Palaemonidae. These results will help to better understand the gene rearrangements and evolutionary position of E. ensirostris and lay a foundation for further phylogenetic studies of Caridea.

Gene rearrangements in the mitochondrial genome of Chiromantes eulimene (Brachyura: Sesarmidae) and phylogenetic implications for Brachyura

Complete mitochondrial genome (mitogenome) provides important information for better understanding of gene rearrangement, molecular evolution and phylogenetic analysis. Here we determined the complete mitogenome sequence of Chiromantes eulimene (Brachyura: Sesarmidae) for the first time. The total length is 15,894 bp and includes 13 protein-coding genes (PCGs), 22 transfer RNAs, two ribosomal RNAs, as well as a putative control region. The genome composition is highly A + T biased (75.5%), and exhibits a negative AT-skew (−0.017) and GC-skew (−0.206). All of the 13 PCGs are initiated by the start codon ATN, with an exception (GTG) in ND1. The typical stop codon (TAA or TAG) is detected in ten PCGs, whereas the remaining three PCGs (COI, COII and Cyt b) terminate by an incomplete T. The gene order in C. eulimene mitogenome was rearranged compared with that of the ancestor of Decapoda. The gene order of F-ND5-H changed to H-F-ND5. Like other sesarmid crabs, the I-Q-M gene cluster in the pancrustacean ground pattern became Q-I-M order in C. eulimene genome. Tandem duplication-random loss model and slipped-strand mispairing mechanism are determined as most likely to explain the observed gene rearrangements. Phylogenetic analysis places all Sesarmidae species into one group. Almost all families except Xanthidae, Gecarcinidae and Homolidae form a monophyletic clade and the polyphyly of Eriphioidea, Ocypodoidea and Grapsoidea is well supported. These results will help to better understand the gene rearrangements and evolutionary position of C. eulimene and lay a foundation for further phylogenetic studies of Brachyura.

Deep transcriptome profiling sheds light on key players in nucleus implantation induced immune response in the pearl oyster Pinctada martensii

Complete mitochondrial genome (mitogenome) provides important information for better understanding of gene rearrangement, molecular evolution and phylogenetic analysis. Here we determined the complete mitogenome sequence of Chiromantes eulimene (Brachyura: Sesarmidae) for the first time. The total length is 15,894 bp and includes 13 protein-coding genes (PCGs), 22 transfer RNAs, two ribosomal RNAs, as well as a putative control region. The genome composition is highly A + T biased (75.5%), and exhibits a negative AT-skew (−0.017) and GC-skew (−0.206). All of the 13 PCGs are initiated by the start codon ATN, with an exception (GTG) in ND1. The typical stop codon (TAA or TAG) is detected in ten PCGs, whereas the remaining three PCGs (COI, COII and Cyt b) terminate by an incomplete T. The gene order in C. eulimene mitogenome was rearranged compared with that of the ancestor of Decapoda. The gene order of F-ND5-H changed to H-F-ND5. Like other sesarmid crabs, the I-Q-M gene cluster in the pancrustacean ground pattern became Q-I-M order in C. eulimene genome. Tandem duplication-random loss model and slipped-strand mispairing mechanism are determined as most likely to explain the observed gene rearrangements. Phylogenetic analysis places all Sesarmidae species into one group. Almost all families except Xanthidae, Gecarcinidae and Homolidae form a monophyletic clade and the polyphyly of Eriphioidea, Ocypodoidea and Grapsoidea is well supported. These results will help to better understand the gene rearrangements and evolutionary position of C. eulimene and lay a foundation for further phylogenetic studies of Brachyura.

Complete mitochondrial genome of Ophichthus brevicaudatus reveals novel gene order and phylogenetic relationships of Anguilliformes

Generally, a teleostean group possesses only one type or a set of similar mitochondrial gene arrangement. However, two types of gene arrangement have been identified in the mitochondrial genomes (mitogenomes) of Anguilliformes. Here, a newly sequenced mitogenome of Ophichthus brevicaudatus (Anguilliformes; Ophichthidae) was presented. The total length of the O. brevicaudatus mitogenome was 17,773 bp, and it contained 13 protein-coding genes (PCGs), two ribosomal RNAs (rRNAs), 22 transfer RNA (tRNA) genes, and two identical control regions (CRs). The gene order differed from that of the typical vertebrate mitogenomes. The genes ND6 and the conjoint trnE were translocated to the location between trnT and trnP, and one of the duplicated CR was translocated to the upstream of the ND6. The duplication-random loss model was adopted to explain the gene rearrangement events in this mitogenome. The most comprehensive phylogenetic trees of Anguilliformes based on complete mitogenome was constructed. The non-monophyly of Congridae was well supported, whereas the non-monophyly of Derichthyidae and Chlopsidae was not supported. These results provide insight into gene arrangement features of anguilliform mitogenomes and lay the foundation for further phylogenetic studies on Anguilliformes.

Polymorphic duplicate genes and persistent non-coding sequences reveal heterogeneous patterns of mitochondrial DNA loss in salamanders

BackgroundMitochondria are the site of the citric acid cycle and oxidative phosphorylation (OXPHOS). In metazoans, the mitochondrial genome is a small, circular molecule averaging 16.5 kb in length. Despite evolutionarily conserved gene content, metazoan mitochondrial genomes show a diversity of gene orders most commonly explained by the duplication-random loss (DRL) model. In the DRL model, (1) a sequence of genes is duplicated in tandem, (2) one paralog sustains a loss-of-function mutation, resulting in selection to retain the other copy, and (3) the non-functional paralog is eventually deleted from the genome. Despite its apparent role in generating mitochondrial gene order diversity, little is known about the tempo and mode of random gene loss after duplication events. Here, we determine mitochondrial gene order across the salamander genus Aneides, which was previously shown to include at least two DRL-mediated rearrangement events. We then analyze these gene orders in a phylogenetic context to reveal patterns of DNA loss after mitochondrial gene duplication.ResultsWe identified two separate duplication events that resulted in mitochondrial gene rearrangements in Aneides; one occurred at the base of the clade tens of millions of years ago, while the other occurred much more recently (i.e. within a single species), resulting in gene order polymorphism and paralogs that are readily identifiable. We demonstrate that near-complete removal of duplicate rRNA genes has occurred since the recent duplication event, whereas duplicate protein-coding genes persist as pseudogenes and duplicate tRNAs persist as functionally intact paralogs. In addition, we show that non-coding DNA duplicated at the base of the clade has persisted across species for tens of millions of years.ConclusionsThe evolutionary history of the mitochondrial genome, from its inception as a bacterial endosymbiont, includes massive genomic reduction. Consistent with this overall trend, selection for efficiency of mitochondrial replication and transcription has been hypothesized to favor elimination of extra sequence. Our results, however, suggest that there may be no strong disadvantage to extraneous sequences in salamander mitochondrial genomes, although duplicate rRNA genes may be deleterious.

A transfer RNA gene rearrangement in the lepidopteran mitochondrial genome

Gene arrangements in the mitochondrial genomes (mitogenomes) of insects are conserved across the major lineages, but can be rearranged within derived groups and may provide valuable phylogenetic characters. In this study, we sequenced the entire mitogenome of Parasa consocia, a moth of the family Limacodidae (Lepidoptera: Zygaenoidea). Compared with other lepidopterans and ancestral insects, the P. consocia mitogenome features a transfer RNA gene arrangement novel among lepidopterans between the ND3 and ND5 genes: RANSEF (the underline signifies an inverted gene), which differs from the ARNSEF arrangement of ancestral insects. This rearrangement can be explained by the tandem duplication-random loss model. We inferred a phylogenetic hypothesis for the lepidopteran superfamily based on mitochondrial amino-acid sequences using the Bayesian-inference and maximum-likelihood methods. Our results showed that P. consocia belongs to the Zygaenoidea superfamily and supported the following phylogenetic relationship: Yponomeutoidea + (Tortricoidea + Zygaenoidea + (Papilionoidea + (Pyraloidea + (Noctuoidea + (Geometroidea + Bombycoidea)))))). Comparative analyses indicated that mitogenomes are a useful phylogenetic tool at the subfamily level within the order Lepidoptera. Our findings also suggest that mitogenomes are likely to represent a valuable tool for systematics in other groups of lepidopterans.

Complete mitochondrial genomes of two gelechioids, Mesophleps albilinella and Dichomeris ustalella (Lepidoptera: Gelechiidae), with a description of gene rearrangement in Lepidoptera

We sequenced the entire mitochondrial genome (mitogenome) of two gelechioids, Mesophleps albilinella and Dichomeris ustalella, and compared their genome organization and sequence composition to those of available gelechioid mitogenomes for an enhanced understanding of Gelechioidea genomic characteristics. We compared all available lepidopteran mitogenome arrangements, including that of M. albilinella, which is unique in Gelechioidea, to comprehend the extensiveness and mechanisms of gene rearrangement in Lepidoptera. The genomes of M. albilinella and D. ustalella are 15,274 and 15,410bp in size, respectively, with the typical sets of mitochondrial (mt) genes. The COI gene begins with CGA (arginine) in all sequenced gelechioids, including M. albilinella and D. ustalella, reinforcing the feature as a synapomorphic trait, at least in the Gelechioidea. Each 353- and 321-bp long A+T-rich region of M. albilinella and D. ustalella contains one (D. ustalella) or two (M. albilinella) tRNA-like structures. The M. albilinella mitogenome has a unique gene arrangement among the Gelechioidea: ARNESF (the underline signifies an inverted gene) at the ND3 and ND5 junction, as opposed to the ARNSEF that is found in ancestral insects. An extensive search of available lepidopteran mitogenomes, including that of M. albilinella, turned up six rearrangements that differ from those of ancestral insects. Most of the rearrangements can be explained by the tandem duplication-random loss model, but inversion, which requires recombination, is also found in two cases, including M. albilinella. Excluding the MIQ rearrangement at the A+T-rich region and ND2 junction, which is found in nearly all Ditrysia, most of the remaining rearrangements found in Lepidoptera appear to be independently derived in that they are automorphic at several taxonomic scales, although current mitogenomic data are limited, particularly for congeneric data.

Gene rearrangements in gekkonid mitochondrial genomes with shuffling, loss, and reassignment of tRNA genes.

BackgroundVertebrate mitochondrial genomes (mitogenomes) are 16–18 kbp double-stranded circular DNAs that encode a set of 37 genes. The arrangement of these genes and the major noncoding region is relatively conserved through evolution although gene rearrangements have been described for diverse lineages. The tandem duplication-random loss model has been invoked to explain the mechanisms of most mitochondrial gene rearrangements. Previously reported mitogenomic sequences for geckos rarely included gene rearrangements, which we explore in the present study.ResultsWe determined seven new mitogenomic sequences from Gekkonidae using a high-throughput sequencing method. The Tropiocolotes tripolitanus mitogenome involves a tandem duplication of the gene block: tRNAArg, NADH dehydrogenase subunit 4L, and NADH dehydrogenase subunit 4. One of the duplicate copies for each protein-coding gene may be pseudogenized. A duplicate copy of the tRNAArg gene appears to have been converted to a tRNAGln gene by a C to T base substitution at the second anticodon position, although this gene may not be fully functional in protein synthesis. The Stenodactylus petrii mitogenome includes several tandem duplications of tRNALeu genes, as well as a translocation of the tRNAAla gene and a putative origin of light-strand replication within a tRNA gene cluster. Finally, the Uroplatus fimbriatus and U. ebenaui mitogenomes feature the apparent loss of the tRNAGlu gene from its original position. Uroplatus fimbriatus appears to retain a translocated tRNAGlu gene adjacent to the 5’ end of the major noncoding region.ConclusionsThe present study describes several new mitochondrial gene rearrangements from Gekkonidae. The loss and reassignment of tRNA genes is not very common in vertebrate mitogenomes and our findings raise new questions as to how missing tRNAs are supplied and if the reassigned tRNA gene is fully functional. These new examples of mitochondrial gene rearrangements in geckos should broaden our understanding of the evolution of mitochondrial gene arrangements.Electronic supplementary materialThe online version of this article (doi:10.1186/1471-2164-15-930) contains supplementary material, which is available to authorized users.

Minimal permutations and 2-regular skew tableaux

Bouvel and Pergola introduced the notion of minimal permutations in the study of the whole genome duplication-random loss model for genome rearrangements. Let Fd(n) denote the set of minimal permutations of length n with d descents, and let fd(n)=|Fd(n)|. They showed that fn−2(n)=2n−(n−1)n−2 and fn(2n)=Cn, where Cn is the n-th Catalan number. Mansour and Yan proved that fn+1(2n+1)=2n−2nCn+1. In this paper, we consider the problem of counting minimal permutations in Fd(n) with a prescribed set of ascents, and we show that they are in one-to-one correspondence with a class of skew Young tableaux, which we call 2-regular skew tableaux. Using the determinantal formula for the number of skew Young tableaux of a given shape, we find an explicit formula for fn−3(n). Furthermore, by using the Knuth equivalence, we give a combinatorial interpretation of a formula for a refinement of the number fn+1(2n+1).

The complete mitochondrial genome of the relict frog Leiopelma archeyi: Insights into the root of the frog Tree of Life

Determining the root of the anuran Tree of Life is still a contentious and open question in frog systematics. Two genera with disjunct distributions have been traditionally considered the most basal among extant frogs: Leiopelma, which is endemic to New Zealand, and Ascaphus, which lives in North America. However, their specific phylogenetic position is rather elusive because each genus shows many autapomorphies, and together they retain many symplesiomorphic characters. Therefore, several alternative hypotheses have been proposed regarding the relative phylogenetic position of both Leiopelma and Ascaphus. In order to distinguish among these competing phylogenetic hypotheses, we sequenced the complete mitochondrial (mt) genome of Leiopelma archeyi and used it along with previously reported frog mt genomes (including that of Ascaphus truei) to infer a robust phylogeny of major anuran lineages. The reconstructed maximum likelihood and Bayesian inference phylogenies recovered identical topology, which supports the sister group relationship of Ascaphus and Leiopelma, and the placement of this clade at the base of the anuran tree. Interestingly, the mt genome of L. archeyi displays a novel gene arrangement in frog mt genomes affecting the relative position of cytochrome b, trnT, NADH dehydrogenase subunit 6, trnE, and trnP genes. The tandem duplication—random loss model of gene order change explains the origin of this novel frog mt genome arrangement, which is convergent with others reported in some fishes and salamanders. These results, together with comparative data for other available vertebrate mt genomes, provide evidence that the 5′ end of the control region is a hot spot for gene order rearrangement.

Whole mirror duplication-random loss model and pattern avoiding permutations

In this paper we study the problem of the whole mirror duplication-random loss model in terms of pattern avoiding permutations. We prove that the class of permutations obtained with this model after a given number p of duplications of the identity is the class of permutations avoiding the alternating permutations of length 2 p + 1 . We also compute the number of duplications necessary and sufficient to obtain any permutation of length n. We provide two efficient algorithms to reconstitute a possible scenario of whole mirror duplications from identity to any permutation of length n. One of them uses the well-known binary reflected Gray code (Gray, 1953) [10]. Other relative models are also considered.

Evolution of Caenorhabditis Mitochondrial Genome Pseudogenes and Caenorhabditis briggsae Natural Isolates

Although most metazoan mitochondrial genomes are highly streamlined and encode little noncoding DNA outside of the "AT" region, the accumulation of mitochondrial pseudogenes and other types of noncoding DNA has been observed in a growing number of animal groups. The nematode species Caenorhabditis briggsae harbors two mitochondrial DNA (mtDNA) pseudogenes, named Psinad5-1 and Psinad5-2, presumably derived from the nad5 protein-coding gene. Here, we provide an in-depth analysis of mtDNA pseudogene evolution in C. briggsae natural isolates and related Caenorhabditis species. Mapping the observed presence and absence of the pseudogenes onto phylogenies suggests that Psinad5-1 originated in the ancestor to C. briggsae and its recently discovered outcrossing relative species Caenorhabditis sp. 5 and Caenorhabditis sp. 9. However, Psinad5-1 was not detected in Caenorhabditis sp. 9 natural isolates, suggesting a lineage-specific loss of this pseudogene in this species. Our results corroborated the previous finding that Psinad5-2 originated within C. briggsae. The observed pattern of mitochondrial pseudogene gain and loss in Caenorhabditis was inconsistent with predictions of the tandem duplication-random loss model of mitochondrial genome evolution and suggests that intralineage recombination-like mechanisms might play a major role in Caenorhabditis mtDNA evolution. Natural variation was analyzed at the pseudogenes and flanking mtDNA sequences in 141 geographically diverse C. briggsae natural isolates. Although phylogenetic analysis placed the majority of isolates into the three previously established major intraspecific clades of C. briggsae, two new and unexpected haplotypes fell outside of these conventional groupings. Psinad5-2 copy number variation was observed among C. briggsae isolates collected from the same geographic site. Patterns of nucleotide diversity were analyzed in Psinad5-1 and Psinad5-2, and confidence intervals were found to overlap values from synonymous sites in protein-coding genes, consistent with neutral expectations. Our findings provide new insights into the mode and tempo of mitochondrial genome and pseudogene evolution both within and between Caenorhabditis nematode species.

A variant of the tandem duplication — random loss model of genome rearrangement

In [K. Chaudhuri, K. Chen, R. Mihaescu, S. Rao, On the tandem duplication-random loss model of genome rearrangement, in: SODA, 2006, pp. 564–570], Chaudhuri, Chen, Mihaescu and Rao study algorithmic properties of the tandem duplication — random loss model of genome rearrangement, well-known in evolutionary biology. In their model, the cost of one step of duplication-loss of width k is α k for α = 1 or α ≥ 2 . In this paper, we study a variant of this model, where the cost of one step of width k is 1 if k ≤ K and ∞ if k > K , for any value of the parameter K ∈ N ∪ { ∞ } . We first show that permutations obtained after p steps of width K define classes of pattern-avoiding permutations. We also compute the numbers of duplication-loss steps of width K necessary and sufficient to obtain any permutation of S n , in the worst case and on average. In this second part, we may also consider the case K = K ( n ) , a function of the size n of the permutation on which the duplication-loss operations are performed.

The complete mitochondrial genome of Parafronurus youi (Insecta: Ephemeroptera) and phylogenetic position of the Ephemeroptera

The first complete mitochondrial genome of a mayfly, Parafronurus youi (Arthropoda: Insecta: Pterygota: Ephemeroptera: Heptageniidae), was sequenced using a long PCR-based approach. The genome is a circular molecule of 15,481 bp in length, and encodes the set of 38 genes. Among them, 37 genes are found in other conservative insect mitochondrial genomes, and the 38 th unique gene is trnM-like ( trnM2). The duplication–random loss model can be used to explain one of the translocations at least. The A + T content of the control region is 57%, the lowest proportion detected so far in Hexapoda. Based on the nucleotide dataset and the corresponding amino acid dataset of 12 protein-coding genes, Bayesian inference and maximum likelihood analyses yielded stable support for the relationship of the three basal clades of winged insects as Ephemeroptera + (Odonata + Neoptera).