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PubMed2026

Chromosome-level de novo assembly of the nuclear and mitochondrial genomes of Arcopilus aureus, a filamentous fungus with multifaceted ecological and economic roles.

The filamentous fungus Arcopilus aureus (Sordariale: Chaetomiaceae) is notable for its multi-domain significance across agriculture, medicine, and industry. In this study, we generated a chromosome-level nuclear genome and a complete circular mitogenome for A. aureus by integrating data from next-generation sequencing, PacBio HiFi, and Hi-C technologies. The final nuclear genome assembly spans 33.77 Mb (GC content: 57.67%), and was organized into seven chromosomal-sized scaffolds (only one gap) with an N50 size of 5.09 Mb and BUSCO completeness of 95.91%. A total of 10,282 protein-coding genes, 228 non-coding RNAs, and ~1.77 Mb of repetitive elements were predicted in the nuclear genome. By contrast, the mitogenome of A. aureus is 33,820 bp in length, with a GC content of 25.96%. It harbors 15 typical mitochondrial protein-coding genes, one unidentified ORF, two rRNAs (small subunit rns and large subunit rnl), and 28 tRNAs. This high-quality genome assembly provides a valuable resource for understanding the ecology, genetics, and evolution of A. aureus, which facilitates elucidating its mechanisms of biocontrol, infection, and metabolite synthesis.

Genome, Mitochondrial↗
PubMed1998

Mouse annexin III cDNA, genetic mapping and evolution.

Mouse annexin III cDNA was characterized from I.M.A.G.E. Consortium (LLNL) expressed sequence tag clones by molecular sequencing, chromosomal mapping and systematic analysis. cDNA sequences extended the known 5' and 3' untranslated regions and confirmed the location of intron 7 with respect to the human gene. The Anx3 locus mapped to the middle of mouse chromosome 5 between Areg and Fgf5. Protein-coding regions were compared with homologous annexins to establish subfamily identity, structural conservation and divergence pattern. Annexin III exhibited low functional constraint against structural change and weak phylogenetic association with known annexins. The rapid, constant divergence of human and rodent annexins III from each other and from other annexin subfamilies was used to estimate gene separation times. Phylogenetic, phenetic and structural data suggested a possible direct or indirect separation of annexin III from XI approximately 317 million years ago.

Amino Acid Sequence↗
PubMed2005

Recently evolved genes identified from Drosophila yakuba and D. erecta accessory gland expressed sequence tags.

The fraction of the genome associated with male reproduction in Drosophila may be unusually dynamic. For example, male reproduction-related genes show higher-than-average rates of protein divergence and gene expression evolution compared to most Drosophila genes. Drosophila male reproduction may also be enriched for novel genetic functions. Our earlier work, based on accessory gland protein genes (Acp's) in D. simulans and D. melanogaster, suggested that the melanogaster subgroup Acp's may be lost and/or gained on a relatively rapid timescale. Here we investigate this possibility more thoroughly through description of the accessory gland transcriptome in two melanogaster subgroup species, D. yakuba and D. erecta. A genomic analysis of previously unknown genes isolated from cDNA libraries of these species revealed several cases of genes present in one or both species, yet absent from ingroup and outgroup species. We found no evidence that these novel genes are attributable primarily to duplication and divergence, which suggests the possibility that Acp's or other genes coding for small proteins may originate from ancestrally noncoding DNA.

Animals↗
PubMed1999

Transposable elements as the key to a 21st century view of evolution.

Cells are capable of sophisticated information processing. Cellular signal transduction networks serve to compute data from multiple inputs and make decisions about cellular behavior. Genomes are organized like integrated computer programs as systems of routines and subroutines, not as a collection of independent genetic 'units'. DNA sequences which do not code for protein structure determine the system architecture of the genome. Repetitive DNA elements serve as tags to mark and integrate different protein coding sequences into coordinately functioning groups, to build up systems for genome replication and distribution to daughter cells, and to organize chromatin. Genomes can be reorganized through the action of cellular systems for cutting, splicing and rearranging DNA molecules. Natural genetic engineering systems (including transposable elements) are capable of acting genome-wide and not just one site at a time. Transposable elements are subject to regulation by cellular signal transduction/computing networks. This regulation acts on both the timing and extent of DNA rearrangements and (in a few documented cases so far) on the location of changes in the genomes. By connecting transcriptional regulatory circuits to the action of natural genetic engineering systems, there is a plausible molecular basis for coordinated changes in the genome subject to biologically meaningful feedback.

DNA Transposable Elements↗
PubMed1999

Evidence for genetic drift in endosymbionts (Buchnera): analyses of protein-coding genes.

Buchnera, the bacterial endosymbionts of aphids, undergo severe population bottlenecks during maternal transmission through their hosts. Previous studies suggest an increased effect of drift within these strictly asexual, small populations, resulting in an increased fixation of slightly deleterious mutations. This study further explores sequence evolution in Buchnera using three approaches. First, patterns of codon usage were compared across several homologous Escherichia coli and Buchnera loci, in order to test the prediction that selection for the use of optimal codons is less effective in small populations. A chi 2-based measure of codon bias was developed to adjust for the overall A + T richness of silent positions in the endosymbionts. In contrast to E. coli homologues, adaptive codon bias across Buchnera loci is markedly low, and patterns of codon usage lack a strong relationship with gene expression level. These data suggest that codon usage in Buchnera has been shaped largely by mutational pressure and drift rather than by selection for translational efficiency. One exception to the overall lack of bias is groEL, which is known to be constitutively overexpressed in Buchnera and other endosymbionts. Second, relative-rate tests show elevated rates of sequence evolution of numerous protein-coding loci across Buchnera, compared to E. coli. Finally, consistently higher ratios of nonsynonymous to synonymous substitutions in Buchnera loci relative to the enteric bacteria strongly suggest the accumulation of nonsynonymous substitutions in endosymbiont lineages. Combined, these results suggest a decreased effectiveness of purifying selection in purging endosymbiont populations of slightly deleterious mutations, particularly those affecting codon usage and amino acid identity.

Animals↗
PubMed1997

Origin and evolution of mitochondria: what have we learnt from red algae?

The purpose of this review is to present an account of our current understanding of the structure, organization and evolution of mitochondrial genomes, and to discuss the origin and evolution of mitochondria from the perspective recently provided by the extensive sequencing of various mitochondrial genomes. Mitochondrial-en-coded protein phylogenies are congruent with nuclear phylogenies and strongly support a monophyletic origin of mitochondria. The newly available data from red-algal mitochondrial genomes, in particular, show that the structural and functional diversity of mitochondrial genomes can be accounted for by paralogous evolution. We also discuss the influence of other constraints, such as uniparental inheritance, on the evolution of genome organization in mitochondria.

DNA, Circular↗
PubMed1993

Selection of a 'minimal' glutaminyl-tRNA synthetase and the evolution of class I synthetases.

The evolution of the aminoacyl-tRNA synthetases is intriguing in light of their elaborate relationship with tRNAs and their significance in the decoding process. Based on sequence motifs and structure determination, these enzymes have been assigned to two classes. The crystal structure of Escherichia coli glutaminyl-tRNA synthetase (GlnRS), a class I enzyme, complexed to tRNA(Gln) and ATP has been described. It is shown here that a 'minimal' GlnRS, i.e. a GlnRS from which domains interacting with the acceptor-end and the anticodon of the tRNA have been deleted, has enzymatic activity and can charge a tRNA(Tyr)-derived amber suppressor (supF) with glutamine. The catalytic core of GlnRS, which is structurally conserved in other class I synthetases, is therefore sufficient for the aminoacylation of tRNA substrates. Some of these truncated enzymes have lost their ability to discriminate against non-cognate tRNAs, implying a more specific role of the acceptor-end-binding domain in the recognition of tRNAs. Our results indicate that the catalytic and substrate recognition properties are carried by distinct domains of GlnRS, and support the notion that class I aminoacyl-tRNA synthetases evolved from a common ancestor, jointly with tRNAs and the genetic code, by the addition of non-catalytic domains conferring new recognition specificities.

Amino Acyl-tRNA Synthetases↗
PubMedDate not supplied

[The nineteenth century roots of the contemporary biological revolution].

The recent publication of the human genomic sequence is the most important progress in biology. It originates from four major watersheds between 1860-1865, namely the biological evolution by Darwin in 1858, the Mendel laws of heredity in 1865, the basis of physiology established by Claude Bernard also in 1865, and the discoveries of microbacteria by Louis Pasteur around 1857. Before 1860, biology did not exist as a science. After 1860, the Darwin's theory progressively became a law after the discovery of the DNA polymorphism and that of the mechanisms of genetic mixing. So far the Mendel's laws were confirmed in parallel with the development of molecular genetics after the discovery of DNA structure and genetic code. The discovery of hormones is one example, amongst several on how integrative physiology applies to Claude Bernard's basis. Finally, based on Pasteur's discovery and Pasteur Institutes, microbiology became a tool for molecular biologists.

Biological Evolution↗
PubMedDate not supplied

The physics of symbols: bridging the epistemic cut.

Evolution requires the genotype-phenotype distinction, a primeval epistemic cut that separates energy-degenerate, rate-independent genetic symbols from the rate-dependent dynamics of construction that they control. This symbol-matter or subject-object distinction occurs at all higher levels where symbols are related to a referent by an arbitrary code. The converse of control is measurement in which a rate-dependent dynamical state is coded into quiescent symbols. Non-integrable constraints are one necessary condition for bridging the epistemic cut by measurement, control, and coding. Additional properties of heteropolymer constraints are necessary for biological evolution.

Biological Evolution↗
PubMed1997

Probabilistic incremental program evolution

Probabilistic incremental program evolution (PIPE) is a novel technique for automatic program synthesis. We combine probability vector coding of program instructions, population-based incremental learning, and tree-coded programs like those used in some variants of genetic programming (GP). PIPE iteratively generates successive populations of functional programs according to an adaptive probability distribution over all possible programs. Each iteration, it uses the best program to refine the distribution. Thus, it stochastically generates better and better programs. Since distribution refinements depend only on the best program of the current population, PIPE can evaluate program populations efficiently when the goal is to discover a program with minimal runtime. We compare PIPE to GP on a function regression problem and the 6-bit parity problem. We also use PIPE to solve tasks in partially observable mazes, where the best programs have minimal runtime.

Journal Article↗
PubMed2006

Phylogeographic investigations: the role of trees in forensic genetics.

The human mitochondrial DNA (mtDNA) genome is commonly analyzed in various disciplines, such as population, medical, and forensic genetics, but conceptual and scientific exchange between them is still limited. Here we review several aspects of the mtDNA phylogeny that are particularly--but not exclusively--of interest to the forensic community. Among the issues that arise, we emphasize the importance of integrating evolutionary concepts into the forensic routine. We also discuss topics such as mtDNA mutation-rate heterogeneity and the weight of evidence, ethnic affiliations of mtDNA profiles, and the abuse of reference databases. Finally, we show the usefulness of coding-region variation in a forensic context.

DNA Fingerprinting↗
PubMed2004

Modeling the impact of DNA methylation on the evolution of BRCA1 in mammals.

The modified base 5-methylcytosine ((m)C) plays an important functional role in the biology of mammals as an epigenetic modification and appears to exert a striking impact on the molecular evolution of mammal genomes. The collective epigenetic functions of (m)C revolve around its effect on gene transcription, while the influence of this modified base on the evolution of mammal genomes derives from the greatly elevated spontaneous mutation rate of (m)C to T. In mammals, (m)C occurs at the dinucleotides CpG, CpA, and CpT. As a step toward a comprehensive statistical examination of the role of (m)C in mammal molecular evolution, we have developed novel Markov models of codon substitution that incorporate dinucleotide-level terms relevant to (m)C mutation. We apply these models to two data sets of aligned BRCA1 exon 11 sequences from bats and primates. In all cases, terms specific to mutations that affect the dinucleotides CpG, CpA, and CpT significantly improved model fit. For the CpG-specific terms, both transition and transversion substitution rates were elevated. These rates differed between the data sets. Bats exhibited a lower relative rate of substitutions at CpG-containing codons. Transition substitutions were significantly less than 1 at CpA-containing codons but greater than 1 at CpT-containing codons. The inclusion of interaction terms in the codon models to represent possible confounding with the effect of natural selection were supported for codons that contained CpG and CpT, but not CpA. From the results, we infer that mutation of (m)C is a probable factor that affects BRCA1 codons containing the dinucleotide CpG, a possible factor for CpA-containing codons, and an unlikely factor that affects CpT-containing codons. The confounding of estimated terms with the effect of natural selection indicate this confounding must be addressed for comparisons between different coding and noncoding regions.

Animals↗
PubMed1987

Mouse histone H2A and H2B genes: four functional genes and a pseudogene undergoing gene conversion with a closely linked functional gene.

The sequence of five mouse histone genes, two H2a and three H2b genes on chromosome 13 has been determined. The three H2b genes all code for different proteins, each differing in two amino acids from the others. The H2b specific elements present 5' to H2b genes from other species are present in all three mouse H2b genes. All three H2b genes are expressed in the same relative amounts in three different mouse cell lines and fetal mice. The H2b gene with the H2b specific sequence closest to the TATAA sequence is expressed in the highest amount. One of the H2a genes lacks the first 9 amino acids, the promoter region, the last 3 amino acids and contains an altered 3' end sequence. Despite these multiple defects, there is only one nucleotide change between the two H2a genes from codon 9 to 126. This indicates that a recent gene conversion has occurred between these two genes. The similarity of the nucleotide sequences in the coding regions of mouse histone genes is probably due to gene conversion events targeted precisely at the coding region.

Animals↗
PubMed1977

A systems-analytical approach to macro-evolutionary phenomena.

Two sets of evolutionary phenomena find no explanation through current theory. For the static phenomena (such as homology, homonomy, systematic weight, and "Type") there is no causal base, although these principles are responsible for all phenomena of predictable order in the living world. The dynamic phenomena (such as homodynamy, coadaptation, parallel evolution, orthogenesis, Cartesian transformation, typostrophy, hetermorphosis, systemic mutation, and spontaneous atavism) have no causal explanation, although they are responsible for all directed phenomena in macroevolution. These phenomena share one unifying principle which can be explained by a system theory of evolution based on, but extending, the current synthetic theory. This system theory envisages feedback conditions between genotype and phenotype by which the chances of successful adaptation increase if the genetic units, by insertion of superimposed genes, copy the functional dependencies of those phene structures for which they code. This positive feedback of the adaptive speed (or probability) within a single adaptive direction is compensated by negative feedback in most of the alternative directions. The negative feedback operates as selection not be environmental but by systemic conditions developed by the organization of the organism. The consequences are an imitatively organized system of gene interractions, the rehabilitation of classical systematics, the reality of the "natural system," and, in general, the resolution of the contradiction between neodarwinists and their critics, between reductionists and holists, between "a priori" and "a posteriori" views, between idealism and materialism, and between the notions of freedom and of purpose in evolution.

Biological Evolution↗
PubMed1984

Evolutionary implications of error amplification in the self-replicating and protein-synthesizing machinery.

Evolutionary constraints operating on animal mitochondrial tRNA were estimated to be reduced to about 1/30 of those that apply to cytoplasmic tRNA. In the nuclear-cytoplasmic system, an effect of a mutation in tRNA is likely to be amplified through positive feedback loops consisting of DNA polymerases, RNA polymerases, ribosomal proteins, aminoacyl-tRNA synthetases, tRNA processing enzymes, and others. This amplification phenomenon is called an "error cascade" and the loops that cause it are called "error loops." The freedom of evolutionary change of cytoplasmic tRNA is expected to be severely restricted to avoid the error cascade. In fact, cytoplasmic tRNA is highly conserved during evolution. On the other hand, in the animal mitochondrial system, all of the proteins involved in error loops are coded for in the nuclear genome and imported from the cytoplasm, and accordingly the system is free from the error cascade. The difference in constraints operating on animal tRNA between cytoplasm and mitochondria is attributed to the presence or absence of error loops. It is shown that the constraints on mitochondrial tRNA in fungi are not as relaxed as those in animals. This observation is attributed to the presence of an error loop in fungal mitochondria, since at least one protein of the mitochondrial ribosome is coded for in the mitochondrial genome of fungi. The evolutionary rates of proteins involved in the processing of genetic information are discussed in relation to the error cascade.

Animals↗
PubMed1997

Species diversity and the evolution of behavioral controlling mechanisms.

One of the first things that we are impressed by is the great variety of animals, particularly their behaviors and their physiologies. With so many differences, are there any generalities? With the establishment of evolutionary theory, evidence of "unity in diversity" comes with discoveries of common anatomical features, the cell cycle, conservation of intermediary metabolism, and the genetic code, to name but a few. In vertebrates there appears to be a conservation of the neural circuits underlying sexual behavior, but it is still too early to state the extent to which this concept can be extended to the hormonal mechanisms underlying behavior. Much of our conceptual understanding of behavioral neuroendocrinology stems from extensive studies on relatively few species. When an evolutionary perspective is applied to behavioral neuroscience, the breadth and validity of our assumptions about the mechanisms that control species-typical behaviors are challenged. This is not the same thing as saying that there are few unitary explanations that apply to all mammals, amniotes, or even vertebrates. Considerable information has been gathered about the neuroendocrine bases of behavior in a few species, but to uncover truly broad generalizations, we must look with equal intensity and rigor at other organisms. The pattern of evolution is best illustrated in the diversity of organisms, and the ecological and evolutionary perspective illuminates the utility of various "experiments of nature." By studying (1) closely related species that live in different habitats, we can see if the adaptational responses are similar, and (2) distantly related species that live in the same habitat, we can see if the solutions are analogous. The unique qualities of each species also give us a deeper understanding of the constraints in fundamental processes. When basic conflicts exist, control mechanisms adapt or the species goes extinct. Interestingly, although the neural circuits themselves do not degenerate, they are either no longer used or coopted for other functions.

Animals↗