scholarly journals The Modulation of DNA Content: Proximate Causes and Ultimate Consequences

1999 ◽  
Vol 9 (4) ◽  
pp. 317-324 ◽  
Author(s):  
T. Ryan Gregory ◽  
Paul D.N. Hebert
Keyword(s):  
Genome Size ◽  
Evolutionary Biology ◽  
Large Scale ◽  
Nucleotide Composition ◽  
Character State ◽  
Selfish Dna ◽  
Evolutionary Origins ◽  
Chromosomal Architecture ◽  
Somatic Genome ◽  
Abrupt Shifts

The forces responsible for modulating the large-scale features of the genome remain one of the most difficult issues confronting evolutionary biology. Although diversity in chromosomal architecture, nucleotide composition, and genome size has been well documented, there is little understanding of either the evolutionary origins or impact of much of this variation. The 80,000-fold divergence in genome sizes among eukaryotes represents perhaps the greatest challenge for genomic holists. Although some researchers continue to characterize much variation in genome size as a mere by-product of an intragenomic selfish DNA “free-for-all” there is increasing evidence for the primacy of selection in molding genome sizes via impacts on cell size and division rates. Moreover, processes inducing quantum or doubling series variation in gametic or somatic genome sizes are common. These abrupt shifts have broad effects on phenotypic attributes at both cellular and organismal levels and may play an important role in explaining episodes of rapid—or even saltational—character state evolution.

scholarly journals Genome size correlates with reproductive fitness in seed beetles

2015 ◽  
Vol 282 (1815) ◽  
pp. 20151421 ◽  
Author(s):  
Göran Arnqvist ◽  
Ahmed Sayadi ◽  
Elina Immonen ◽  
Cosima Hotzy ◽  
Daniel Rankin ◽  
...  
Keyword(s):  
Life History ◽  
Natural Selection ◽  
Genome Size ◽  
Evolutionary Biology ◽  
Large Scale ◽  
Life History Traits ◽  
Single Species ◽  
Reproductive Fitness ◽  
Correlated Evolution ◽  
Seed Beetles

The ultimate cause of genome size (GS) evolution in eukaryotes remains a major and unresolved puzzle in evolutionary biology. Large-scale comparative studies have failed to find consistent correlations between GS and organismal properties, resulting in the ‘ C -value paradox’. Current hypotheses for the evolution of GS are based either on the balance between mutational events and drift or on natural selection acting upon standing genetic variation in GS. It is, however, currently very difficult to evaluate the role of selection because within-species studies that relate variation in life-history traits to variation in GS are very rare. Here, we report phylogenetic comparative analyses of GS evolution in seed beetles at two distinct taxonomic scales, which combines replicated estimation of GS with experimental assays of life-history traits and reproductive fitness. GS showed rapid and bidirectional evolution across species, but did not show correlated evolution with any of several indices of the relative importance of genetic drift. Within a single species, GS varied by 4–5% across populations and showed positive correlated evolution with independent estimates of male and female reproductive fitness. Collectively, the phylogenetic pattern of GS diversification across and within species in conjunction with the pattern of correlated evolution between GS and fitness provide novel support for the tenet that natural selection plays a key role in shaping GS evolution.

Modeling Extinction

2003 ◽  
Author(s):  
M. E. J. Newman ◽  
R. G. Palmer
Keyword(s):  
Evolutionary Biology ◽  
Large Scale ◽  
Competitive Exclusion ◽  
Applied Mathematics ◽  
Santa Fe ◽  
New Approach ◽  
Self Organized ◽  
Self Organized Criticality ◽  
Extinction Events ◽  
Mass Extinction Events

Developed after a meeting at the Santa Fe Institute on extinction modeling, this book comments critically on the various modeling approaches. In the last decade or so, scientists have started to examine a new approach to the patterns of evolution and extinction in the fossil record. This approach may be called "statistical paleontology," since it looks at large-scale patterns in the record and attempts to understand and model their average statistical features, rather than their detailed structure. Examples of the patterns these studies examine are the distribution of the sizes of mass extinction events over time, the distribution of species lifetimes, or the apparent increase in the number of species alive over the last half a billion years. In attempting to model these patterns, researchers have drawn on ideas not only from paleontology, but from evolutionary biology, ecology, physics, and applied mathematics, including fitness landscapes, competitive exclusion, interaction matrices, and self-organized criticality. A self-contained review of work in this field.

scholarly journals The Evolution of Isochores: Evidence From SNP Frequency Distributions

Genetics ◽  
2002 ◽  
Vol 162 (4) ◽  
pp. 1805-1810 ◽  
Author(s):  
Martin J Lercher ◽  
Nick G C Smith ◽  
Adam Eyre-Walker ◽  
Laurence D Hurst
Keyword(s):  
Population Genetics ◽  
Large Scale ◽  
Gc Content ◽  
Nucleotide Composition ◽  
Compositional Variation ◽  
Mutation Bias ◽  
Single Nucleotide ◽  
Frequency Distributions ◽  
Noncoding Regions ◽  
Standard Population

AbstractThe large-scale systematic variation in nucleotide composition along mammalian and avian genomes has been a focus of the debate between neutralist and selectionist views of molecular evolution. Here we test whether the compositional variation is due to mutation bias using two new tests, which do not assume compositional equilibrium. In the first test we assume a standard population genetics model, but in the second we make no assumptions about the underlying population genetics. We apply the tests to single-nucleotide polymorphism data from noncoding regions of the human genome. Both models of neutral mutation bias fit the frequency distributions of SNPs segregating in low- and medium-GC-content regions of the genome adequately, although both suggest compositional nonequilibrium. However, neither model fits the frequency distribution of SNPs from the high-GC-content regions. In contrast, a simple population genetics model that incorporates selection or biased gene conversion cannot be rejected. The results suggest that mutation biases are not solely responsible for the compositional biases found in noncoding regions.

scholarly journals The Evolution of Life Modes in Stictidaceae, with Three Novel Taxa

2021 ◽  
Vol 7 (2) ◽  
pp. 105
Author(s):  
Vinodhini Thiyagaraja ◽  
Robert Lücking ◽  
Damien Ertz ◽  
Samantha C. Karunarathna ◽  
Dhanushka N. Wanasinghe ◽  
...  
Keyword(s):  
New Species ◽  
Large Scale ◽  
Sequence Data ◽  
Large Subunit ◽  
Monte Carlo Sampling ◽  
Small Subunit ◽  
Sensu Stricto ◽  
Internal Transcribed Spacers ◽  
Character State ◽  
Phenotypic Data

Ostropales sensu lato is a large group comprising both lichenized and non-lichenized fungi, with several lineages expressing optional lichenization where individuals of the same fungal species exhibit either saprotrophic or lichenized lifestyles depending on the substrate (bark or wood). Greatly variable phenotypic characteristics and large-scale phylogenies have led to frequent changes in the taxonomic circumscription of this order. Ostropales sensu lato is currently split into Graphidales, Gyalectales, Odontotrematales, Ostropales sensu stricto, and Thelenellales. Ostropales sensu stricto is now confined to the family Stictidaceae, which includes a large number of species that are poorly known, since they usually have small fruiting bodies that are rarely collected, and thus, their taxonomy remains partly unresolved. Here, we introduce a new genus Ostropomyces to accommodate a novel lineage related to Ostropa, which is composed of two new species, as well as a new species of Sphaeropezia, S. shangrilaensis. Maximum likelihood and Bayesian inference analyses of mitochondrial small subunit spacers (mtSSU), large subunit nuclear rDNA (LSU), and internal transcribed spacers (ITS) sequence data, together with phenotypic data documented by detailed morphological and anatomical analyses, support the taxonomic affinity of the new taxa in Stictidaceae. Ancestral character state analysis did not resolve the ancestral nutritional status of Stictidaceae with confidence using Bayes traits, but a saprotrophic ancestor was indicated as most likely in a Bayesian binary Markov Chain Monte Carlo sampling (MCMC) approach. Frequent switching in nutritional modes between lineages suggests that lifestyle transition played an important role in the evolution of this family.

scholarly journals Further twists in gastropod shell evolution

2008 ◽  
Vol 4 (2) ◽  
pp. 179-182 ◽  
Author(s):  
Reuben Clements ◽  
Thor-Seng Liew ◽  
Jaap Jan Vermeulen ◽  
Menno Schilthuizen
Keyword(s):  
Evolutionary Biology ◽  
Logarithmic Spiral ◽  
Spiral Growth ◽  
Evolutionary Perspective ◽  
Gastropod Shell ◽  
Form And Function ◽  
Evolutionary Origins ◽  
Taxonomic Groups ◽  
And Function ◽  
Shell Coiling

The manner in which a gastropod shell coils has long intrigued laypersons and scientists alike. In evolutionary biology, gastropod shells are among the best-studied palaeontological and neontological objects. A gastropod shell generally exhibits logarithmic spiral growth, right-handedness and coils tightly around a single axis. Atypical shell-coiling patterns (e.g. sinistroid growth, uncoiled whorls and multiple coiling axes), however, continue to be uncovered in nature. Here, we report another coiling strategy that is not only puzzling from an evolutionary perspective, but also hitherto unknown among shelled gastropods. The terrestrial gastropod Opisthostoma vermiculum sp. nov. generates a shell with: (i) four discernable coiling axes, (ii) body whorls that thrice detach and twice reattach to preceding whorls without any reference support, and (iii) detached whorls that coil around three secondary axes in addition to their primary teleoconch axis. As the coiling strategies of individuals were found to be generally consistent throughout, this species appears to possess an unorthodox but rigorously defined set of developmental instructions. Although the evolutionary origins of O. vermiculum and its shell's functional significance can be elucidated only once fossil intermediates and live individuals are found, its bewildering morphology suggests that we still lack an understanding of relationships between form and function in certain taxonomic groups.

Genome size in cyclopoid copepods (Copepoda: Cyclopoida): chromatin diminution as a hypothesized mechanism of evolutionary constraint

2021 ◽  
Vol 41 (3) ◽  
Author(s):  
Emilly Schutt ◽  
Maria Hołyńska ◽  
Grace A Wyngaard
Keyword(s):  
Genome Size ◽  
Life Histories ◽  
Nuclear Dna ◽  
Cell Lineage ◽  
Fundamental Property ◽  
Nuclear Dna Content ◽  
Evolutionary Constraint ◽  
Chromatin Diminution ◽  
Somatic Genome ◽  
Copepoda Cyclopoida

Abstract Genome size is a fundamental property of organisms that impacts their molecular evolution and life histories. The hypothesis that somatic genome sizes in copepods in the order Cyclopoida are small and evolutionary constrained relative to those in the order Calanoida was proposed 15 years ago. Since then, the number of estimates has almost doubled and the taxon sampling has broadened. Here we add 14 new estimates from eight genera of freshwater cyclopoids that vary from 0.2 to 6.6 pg of DNA per nucleus in the soma; all except one are 2.0 pg DNA per nucleus or smaller. This new sample adds to the pattern of genome size in copepods and is remarkably similar to the distribution on which the original hypothesis was based, as well as those of subsequently published estimates. Embryonic chromatin diminution, during which large portions of DNA are excised from the presomatic cell lineage, is reported in Paracyclops affinis (G.O. Sars, 1863). This diminution results in a somatic genome that is one half the size of the germline genome. When the sizes of the germline genomes carried in presomatic cells of cyclopoid species that possess chromatin diminution are considered, the prediminuted germline genome sizes of cyclopoid embryos overlap with the distribution of calanoid somatic genome sizes, supporting the hypothesis that chromatin diminution has functioned as a mechanism to constrain somatic nuclear DNA content in cyclopoid copepods. Geographically based variation in genome size among populations is also reviewed.

scholarly journals tHapMix: simulating tumour samples through haplotype mixtures

2016 ◽  
Author(s):  
Sergii Ivakhno ◽  
Camilla Colombo ◽  
Stephen Tanner ◽  
Philip Tedder ◽  
Stefano Berri ◽  
...  
Keyword(s):  
Copy Number ◽  
Large Scale ◽  
Variant Calling ◽  
Copy Number Variant ◽  
Supplementary Information ◽  
Genome Diversity ◽  
Simulation Framework ◽  
Somatic Genome ◽  
Copy Number Changes ◽  
Sequencing Platforms

AbstractMotivationLarge-scale rearrangements and copy number changes combined with different modes of cloevolution create extensive somatic genome diversity, making it difficult to develop versatile and scalable oriant calling tools and create well-calibrated benchmarks.ResultsWe developed a new simulation framework tHapMix that enables the creation of tumour samples with different ploidy, purity and polyclonality features. It easily scales to simulation of hundreds of somatic genomes, while re-use of real read data preserves noise and biases present in sequencing platforms. We further demonstrate tHapMix utility by creating a simulated set of 140 somatic genomes and showing how it can be used in training and testing of somatic copy number variant calling tools.Availability and implementationtHapMix is distributed under an open source license and can be downloaded from https://github.com/Illumina/[email protected] informationSupplementary data are available at Bioinformatics online.

scholarly journals Loss of critical developmental and human disease-causing genes in 58 mammals

2019 ◽  
Author(s):  
Yatish Turakhia ◽  
Heidi I. Chen ◽  
Amir Marcovitz ◽  
Gill Bejerano
Keyword(s):  
Evolutionary Biology ◽  
Large Scale ◽  
Gene Annotation ◽  
Synonymous Substitution ◽  
Specific Gene ◽  
High Confidence ◽  
Protein Coding ◽  
Congenital Diseases ◽  
Manual Curation ◽  
Human Genes

Gene losses provide an insightful route for studying the morphological and physiological adaptations of species, but their discovery is challenging. Existing genome annotation tools and protein databases focus on annotating intact genes and do not attempt to distinguish nonfunctional genes from genes missing annotation due to sequencing and assembly artifacts. Previous attempts to annotate gene losses have required significant manual curation, which hampers their scalability for the ever-increasing deluge of newly sequenced genomes. Using extreme sequence erosion (deletion and non-synonymous substitution) as an unambiguous signature of loss, we developed an automated approach for detecting high-confidence protein-coding gene loss events across a species tree. Our approach relies solely on gene annotation in a single reference genome, raw assemblies for the remaining species to analyze, and the associated phylogenetic tree for all organisms involved. Using the hg38 human assembly as a reference, we discovered over 500 unique human genes affected by such high-confidence erosion events in different clades across 58 mammals. While most of these events likely have benign consequences, we also found dozens of clade-specific gene losses that result in early lethality in outgroup mammals or are associated with severe congenital diseases in humans. Our discoveries yield intriguing potential for translational medical genetics and for evolutionary biology, and our approach is readily applicable to large-scale genome sequencing efforts across the tree of life.

scholarly journals What affects power to estimate speciation rate shifts?

2018 ◽  
Author(s):  
Ullasa Kodandaramaiah ◽  
Gopal Murali
Keyword(s):  
Evolutionary Biology ◽  
Ecological Factors ◽  
Tree Age ◽  
Character State ◽  
Speciation Rate ◽  
Relative Age ◽  
Rate Shift ◽  
Rate Asymmetry ◽  
Bias Ratio ◽  
Speciation Rates

The development of methods to estimate rates of speciation and extinction from time- calibrated phylogenies has revolutionized evolutionary biology by allowing researchers to correlate diversification rate shifts with causal ecological factors. A growing number of researchers are interested in testing whether the evolution of a trait or a trait variant has influenced speciation rates, and three modelling methods – BiSSE, MEDUSA and BAMM – have been widely used in such studies. We simulated phylogenies with a single speciation rate shift each, and evaluated the power of the three methods to detect these shifts. We varied the degree of increase in speciation rate (rate asymmetry), the number of tips, the tip-ratio bias (ratio of number of tips with each character state) and the relative age in relation to overall tree age when the rate shift occurred. All methods had good power to detect rate shifts when the rate asymmetry was strong and the sizes of the two lineages with the distinct speciation rates were large. Even when lineage size was small, power was good when rate asymmetry was high. In our simulated scenarios, small lineage sizes appear to affect BAMM most strongly. Tip-ratio influenced the accuracy of speciation rate estimation but did not have a strong effect on power to detect rate shifts. Based on our results, we provide some suggestions to users of these methods.

scholarly journals A Darwinian Uncertainty Principle

2019 ◽  
Vol 69 (3) ◽  
pp. 521-529 ◽  
Author(s):  
Olivier Gascuel ◽  
Mike Steel
Keyword(s):  
Uncertainty Principle ◽  
Evolutionary Biology ◽  
Biochemical Properties ◽  
Simultaneous Estimation ◽  
Character State ◽  
Migration Routes ◽  
Region Of Origin ◽  
Large Classes ◽  
State Changes ◽  
Patterns And Processes

Abstract Reconstructing ancestral characters and traits along a phylogenetic tree is central to evolutionary biology. It is the key to understanding morphology changes among species, inferring ancestral biochemical properties of life, or recovering migration routes in phylogeography. The goal is 2-fold: to reconstruct the character state at the tree root (e.g., the region of origin of some species) and to understand the process of state changes along the tree (e.g., species flow between countries). We deal here with discrete characters, which are “unique,” as opposed to sequence characters (nucleotides or amino-acids), where we assume the same model for all the characters (or for large classes of characters with site-dependent models) and thus benefit from multiple information sources. In this framework, we use mathematics and simulations to demonstrate that although each goal can be achieved with high accuracy individually, it is generally impossible to accurately estimate both the root state and the rates of state changes along the tree branches, from the observed data at the tips of the tree. This is because the global rates of state changes along the branches that are optimal for the two estimation tasks have opposite trends, leading to a fundamental trade-off in accuracy. This inherent “Darwinian uncertainty principle” concerning the simultaneous estimation of “patterns” and “processes” governs ancestral reconstructions in biology. For certain tree shapes (typically speciation trees) the uncertainty of simultaneous estimation is reduced when more tips are present; however, for other tree shapes it does not (e.g., coalescent trees used in population genetics).

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