Ca2+-insensitive and -sensitive E1 subunits of the 2-oxoglutarate dehydrogenase complex (OGDHC) regulate tissue-specific NADH and ATP supply by mutually exclusive OGDH exons 4a and 4b. Here we show that their splicing is enforced by distant lariat branch points (dBPs) located near the 5' splice site of the intervening intron. dBPs restrict the intron length and prevent transposon insertions, which can introduce or eliminate dBP competitors. The size restriction was imposed by a single dominant dBP in anamniotes that expanded into a conserved constellation of four dBP adenines in amniotes. The amniote clusters exhibit taxon-specific usage of individual dBPs, reflecting accessibility of their extended motifs within a stable RNA hairpin rather than U2 snRNA:dBP base-pairing. The dBP expansion took place in early terrestrial species and was followed by a uridine enrichment of large downstream polypyrimidine tracts in mammals. The dBP-protected megatracts permit reciprocal regulation of exon 4a and 4b by uridine-binding proteins, including TIA-1/TIAR and PUF60, which promote U1 and U2 snRNP recruitment to the 5' splice site and BP, respectively, but do not significantly alter the relative dBP usage. We further show that codons for residues critically contributing to protein binding sites for Ca2+ and other divalent metals confer the exon inclusion order that mirrors the Irving-Williams affinity series, linking the evolution of auxiliary splicing motifs in exons to metallome constraints. Finally, we hypothesize that the dBP-driven selection for Ca2+-dependent ATP provision by E1 facilitated evolution of endothermy by optimizing the aerobic scope in target tissues.
- MeSH
- alternativní sestřih * MeSH
- exony MeSH
- HEK293 buňky MeSH
- introny * MeSH
- ketoglutarátdehydrogenasový komplex genetika metabolismus MeSH
- lidé MeSH
- messenger RNA chemie metabolismus MeSH
- místa sestřihu RNA MeSH
- molekulární evoluce MeSH
- obratlovci genetika MeSH
- prekurzory RNA chemie metabolismus MeSH
- protein - isoformy genetika metabolismus MeSH
- rozptýlené repetitivní sekvence MeSH
- sestřihové faktory metabolismus MeSH
- spliceozomy metabolismus MeSH
- termoregulace genetika MeSH
- vápník metabolismus MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Our novel Python-based tool EVANGELIST allows the visualization of GC and repeats percentages along chromosomes in sequenced genomes and has enabled us to perform quantitative large-scale analyses on the chromosome level in fish and other vertebrates. This is a different approach from the prevailing analyses, i.e., analyses of GC% in the coding sequences that make up not more than 2% in human. We identified GC content (GC%) elevations in microchromosomes in ancient fish lineages similar to avian microchromosomes and a large variability in the relationship between the chromosome size and their GC% across fish lineages. This raises the question as to what extent does the chromosome size drive GC% as posited by the currently accepted explanation based on the recombination rate. We ascribe the differences found across fishes to varying GC% of repetitive sequences. Generally, our results suggest that the GC% of repeats and proportion of repeats are independent of the chromosome size. This leaves an open space for another mechanism driving the GC evolution in vertebrates.
- MeSH
- chromozomy genetika MeSH
- cytogenetika * MeSH
- genom genetika MeSH
- molekulární evoluce * MeSH
- obratlovci klasifikace genetika MeSH
- ptáci klasifikace genetika MeSH
- rekombinace genetická genetika MeSH
- repetitivní sekvence nukleových kyselin MeSH
- ryby klasifikace genetika MeSH
- zastoupení bazí genetika MeSH
- zvířata MeSH
- Check Tag
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
The apparent evolvability of the vertebrate head skeleton has allowed a diverse array of shapes, sizes, and compositions of the head in order to better adapt species to their environments. This encompasses feeding, breathing, sensing, and communicating: the head skeleton somehow participated in the evolution of all these critical processes for the last 500 million years. Through evolution, present head diversity was made possible via developmental modifications to the first head skeletal genetic program. Understanding the development of the vertebrate common ancestor's head skeleton is thus an important step in identifying how different lineages have respectively achieved their many innovations in the head. To this end, cyclostomes (jawless vertebrates) are extremely useful, having diverged from jawed vertebrates approximately 400 million years ago, at the deepest node within living vertebrates. From this ancestral vantage point (that is, the node connecting cyclostomes and gnathostomes) we can best identify the earliest major differences in development between vertebrate classes, and start to address how these might translate onto morphology. In this review we survey what is currently known about the cell biology and gene expression during head development in modern vertebrates, allowing us to better characterize the developmental genetics driving head skeleton formation in the most recent common ancestor of all living vertebrates. By pairing this vertebrate composite with information from fossil chordates, we can also deduce how gene regulatory modules might have been arranged in the ancestral vertebrate head. Together, we can immediately begin to understand which aspects of head skeletal development are the most conserved, and which are divergent, informing us as to when the first differences appear during development, and thus which pathways or cell types might be involved in generating lineage specific shape and structure.
- MeSH
- biologická evoluce * MeSH
- genetická variace * MeSH
- hlava růst a vývoj MeSH
- lebka růst a vývoj MeSH
- obratlovci genetika růst a vývoj MeSH
- zkameněliny MeSH
- zvířata MeSH
- Check Tag
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Studies on amphioxus, representing the most basal group of chordates, can give insights into the evolution of vertebrate traits. The present review of amphioxus research is focused on the physiology of light-guided behavior as well as on the fine structure, molecular biology, and electrophysiology of the nervous system, with special attention being given to the photoreceptive organs. The amphioxus visual system is especially interesting because four types of receptors are involved in light detection - dorsal ocelli and Joseph cells (both rhabdomeric photoreceptors) and the frontal eye and lamellar body (both ciliary photoreceptors). Here, we consider how the available information on photoreceptive organs and light-guided behavior in amphioxus helps generate hypotheses about the history of these features during chordate and subsequently vertebrate evolution.
- MeSH
- cirkadiánní rytmus MeSH
- fotoreceptory obratlovců metabolismus fyziologie MeSH
- fotoreceptory metabolismus fyziologie MeSH
- kopinatci genetika fyziologie MeSH
- molekulární evoluce MeSH
- obratlovci genetika fyziologie MeSH
- opsiny genetika metabolismus MeSH
- zrak genetika fyziologie MeSH
- zvířata MeSH
- Check Tag
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
Extant bilaterally symmetrical animals usually show asymmetry in the arrangement of their inner organs. However, the exaggerated left-right (LR) asymmetry in amphioxus represents a true peculiarity among them. The amphioxus larva shows completely disparate fates of left and right body sides, so that organs associated with pharynx are either positioned exclusively on the left or on the right side. Moreover, segmented paraxial structures such as muscle blocks and their neuronal innervation show offset arrangement between the sides making it difficult to propose any explanation or adaptivity to larval and adult life. First LR asymmetries can be traced back to an early embryonic period when morphological asymmetries are preceded by molecular asymmetries driven by the action of the Nodal signaling pathway. This review sums up recent advances in understanding LR asymmetry specification in amphioxus and proposes upstream events that may regulate asymmetric Nodal signaling. These events include the presence of the vertebrate-like LR organizer and a cilia-driven fluid flow that may be involved in the breaking of bilateral symmetry. The upstream pathways comprising the ion flux, Delta/Notch, Wnt/β-catenin and Wnt/PCP are hypothesized to regulate both formation of the LR organizer and expression of the downstream Nodal signaling pathway genes. These suggestions are in line with what we know from vertebrate and ambulacrarian LR axis specification and are directly testable by experimental manipulations. Thanks to the phylogenetic position of amphioxus, the proposed mechanisms may be helpful in understanding the evolution of LR axis specification across deuterostomes.
- MeSH
- kopinatci embryologie genetika růst a vývoj MeSH
- molekulární evoluce MeSH
- obratlovci embryologie genetika růst a vývoj MeSH
- rozvržení tělního plánu genetika MeSH
- signální transdukce genetika MeSH
- vývojová regulace genové exprese * MeSH
- zvířata MeSH
- Check Tag
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
The amphioxus (lancelet) was first described by Pallas in 1774 and incorrectly assigned to mollusks. Since then, amphioxus attracted generations of zoologists. It took however almost one hundred years until Alexander Kowalevsky recognized that the larval stages of amphioxus had much in common with vertebrate embryos. Widely studied around 1900 as the 'elementary vertebrate', amphioxus as a model went out of fashion with the decline of comparative anatomy. Due to the scarcity of taxa at the invertebrate-to-vertebrate transition, amphioxus nevertheless remained the species with a privileged position in animal phylogeny. Its resurrection as the popular model of evolutionary developmental biology came with the advent of modern molecular biology and genomics. In the 1990s amphioxus developmental control genes were identified and characterized at a fast pace with the hope that such studies could provide novel insight into an important evolutionary transition: the origin of vertebrates. Indeed, amphioxus was found to be vertebrate-like but much simpler. Its body resembles that of the vertebrate, but it lacks most of the complexities associated with typical vertebrate organs. Its genome is only 1/6 of the human genome and it has not undergone the whole genome duplications that occurred in the vertebrate lineage. For all of these reasons, amphioxus became widely regarded as a useful proxy for the primitive ancestor of all vertebrates. A persistent problem interpreting amphioxus in the phylogenetic context is the difficulty to distinguish ancestral features, and those that are secondarily derived. There is no doubt that an integrative approach combining information from various disciplines is needed in order to help resolve such issues. Anatomy and comparative morphology has always been strong since the dawn of amphioxus research. Recent developments such as the availability of genomic sequences for three Branchiostoma species, established laboratory cultures of amphioxus that can be spawned at the investigator's will, or techniques allowing transgenesis and gene knockouts represent a major leap for studies on how the genotype generates a phenotype. These advances also enable the smooth transition of amphioxus from the model system of a distinguished past into the one with a very bright future.
- MeSH
- genom genetika MeSH
- kopinatci genetika růst a vývoj MeSH
- modely u zvířat * MeSH
- molekulární evoluce MeSH
- obratlovci genetika růst a vývoj MeSH
- vývojová biologie metody MeSH
- zvířata MeSH
- Check Tag
- zvířata MeSH
- Publikační typ
- úvodní články MeSH
Amniote vertebrates, the group consisting of mammals and reptiles including birds, possess various mechanisms of sex determination. Under environmental sex determination (ESD), the sex of individuals depends on the environmental conditions occurring during their development and therefore there are no sexual differences present in their genotypes. Alternatively, through the mode of genotypic sex determination (GSD), sex is determined by a sex-specific genotype, i.e. by the combination of sex chromosomes at various stages of differentiation at conception. As well as influencing sex determination, sex-specific parts of genomes may, and often do, develop specific reproductive or ecological roles in their bearers. Accordingly, an individual with a mismatch between phenotypic (gonadal) and genotypic sex, for example an individual sex-reversed by environmental effects, should have a lower fitness due to the lack of specialized, sex-specific parts of their genome. In this case, evolutionary transitions from GSD to ESD should be less likely than transitions in the opposite direction. This prediction contrasts with the view that GSD was the ancestral sex-determining mechanism for amniote vertebrates. Ancestral GSD would require several transitions from GSD to ESD associated with an independent dedifferentiation of sex chromosomes, at least in the ancestors of crocodiles, turtles, and lepidosaurs (tuataras and squamate reptiles). In this review, we argue that the alternative theory postulating ESD as ancestral in amniotes is more parsimonious and is largely concordant with the theoretical expectations and current knowledge of the phylogenetic distribution and homology of sex-determining mechanisms.
- MeSH
- biologická evoluce * MeSH
- obratlovci genetika fyziologie MeSH
- pohlavní chromozomy genetika MeSH
- procesy určující pohlaví genetika fyziologie MeSH
- životní prostředí MeSH
- zvířata MeSH
- Check Tag
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
BACKGROUND: Peroxisomes are ubiquitous eukaryotic organelles that compartmentalize a variety of metabolic pathways that are primarily related to the oxidative metabolism of lipids and the detoxification of reactive oxygen species. The importance of peroxisomes is underscored by serious human diseases, which are caused by disorders in peroxisomal functions. Some eukaryotic lineages, however, lost peroxisomes. These organisms are mainly anaerobic protists and some parasitic lineages including Plasmodium and parasitic platyhelminths. Here we performed a systematic in-silico analysis of peroxisomal markers among metazoans to assess presence of peroxisomes and peroxisomal enzymes. RESULTS: Our analyses reveal an obvious loss of peroxisomes in all tested flukes, tapeworms, and parasitic roundworms of the order Trichocephalida. Intriguingly, peroxisomal markers are absent from the genome of the free-living tunicate Oikopleura dioica, which inhabits oxygen-containing niches of sea waters. We further map the presence and predicted subcellular localization of putative peroxisomal enzymes, showing that in organisms without the peroxisomal markers the set of these enzymes is highly reduced and none of them contains a predicted peroxisomal targeting signal. CONCLUSIONS: We have shown that several lineages of metazoans independently lost peroxisomes and that the loss of peroxisomes was not exclusively associated with adaptation to anaerobic habitats and a parasitic lifestyle. Although the reason for the loss of peroxisomes from O. dioica is unclear, organisms lacking peroxisomes, including the free-living O. dioica, share certain typical r-selected traits: high fecundity, limited ontogenesis and relatively low complexity of the gene content. We hypothesize that peroxisomes are generally the first compartment to be lost during evolutionary reductions of the eukaryotic cell.
- MeSH
- bezobratlí genetika MeSH
- biologická evoluce * MeSH
- fylogeneze MeSH
- genom * MeSH
- obratlovci genetika MeSH
- paraziti genetika MeSH
- peroxizomy genetika MeSH
- sekvenční analýza DNA MeSH
- Urochordata genetika MeSH
- zvířata MeSH
- Check Tag
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Cephalochordates, commonly known as amphioxus or lancelets, are the most basal subphylum of chordates. Cephalochordates are thus key to understanding the origin of vertebrates and molecular mechanisms underlying vertebrate evolution. The evolution of developmental control mechanisms during invertebrate-to-vertebrate transition involved not only gene duplication events, but also specific changes in spatial and temporal expression of many genes. To get insight into the spatiotemporal regulation of gene expression during invertebrate-to-vertebrate transition, functional studies of amphioxus gene regulatory elements are highly warranted. Here, we review transgenic studies performed in amphioxus and vertebrates using promoters and enhancers derived from the genome of Branchiostoma floridae. We describe the current methods of transgenesis in amphioxus, provide evidence of Tol2 transposon-generated transgenic embryos of Branchiostoma lanceolatum and discuss possible future directions. We envision that comparative transgenic analysis of gene regulatory sequences in the context of amphioxus and vertebrate embryos will likely provide an important mechanistic insight into the evolution of vertebrate body plan.
BACKGROUND: DNA methylation plays a key role in development, contributes to genome stability, and may also respond to external factors supporting adaptation and evolution. To connect different types of stimuli with particular biological processes, identifying genome regions with altered 5-methylcytosine distribution at a genome-wide scale is important. Many researchers are using the simple, reliable, and relatively inexpensive Methylation Sensitive Amplified Polymorphism (MSAP) method that is particularly useful in studies of epigenetic variation. However, electrophoretic patterns produced by the method are rather difficult to interpret, particularly when MspI and HpaII isoschizomers are used because these enzymes are methylation-sensitive, and any C within the CCGG recognition motif can be methylated in plant DNA. RESULTS: Here, we evaluate MSAP patterns with respect to current knowledge of the enzyme activities and the level and distribution of 5-methylcytosine in plant and vertebrate genomes. We discuss potential caveats related to complex MSAP patterns and provide clues regarding how to interpret them. We further show that addition of combined HpaII + MspI digestion would assist in the interpretation of the most controversial MSAP pattern represented by the signal in the HpaII but not in the MspI profile. CONCLUSIONS: We recommend modification of the MSAP protocol that definitely discerns between putative hemimethylated mCCGG and internal CmCGG sites. We believe that our view and the simple improvement will assist in correct MSAP data interpretation.
- MeSH
- 5-methylcytosin chemie MeSH
- DNA rostlinná genetika MeSH
- epigeneze genetická MeSH
- metylace DNA * MeSH
- obratlovci genetika MeSH
- polymorfismus genetický * MeSH
- restrikční mapování MeSH
- tabák genetika MeSH
- techniky amplifikace nukleových kyselin metody MeSH
- zvířata MeSH
- Check Tag
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
