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PubMed2003

The application of molecular genetic approaches to the study of human evolution.

The past decade of advances in molecular genetic technology has heralded a new era for all evolutionary studies, but especially the science of human evolution. Data on various kinds of DNA variation in human populations have rapidly accumulated. There is increasing recognition of the importance of this variation for medicine and developmental biology and for understanding the history of our species. Haploid markers from mitochondrial DNA and the Y chromosome have proven invaluable for generating a standard model for evolution of modern humans. Conclusions from earlier research on protein polymorphisms have been generally supported by more sophisticated DNA analysis. Co-evolution of genes with language and some slowly evolving cultural traits, together with the genetic evolution of commensals and parasites that have accompanied modern humans in their expansion from Africa to the other continents, supports and supplements the standard model of genetic evolution. The advances in our understanding of the evolutionary history of humans attests to the advantages of multidisciplinary research.

Animals↗
PubMed2002

Generation of two homologous and intronless zinc-finger protein genes, zfp352 and zfp353, with different expression patterns by retrotransposition.

We have previously reported a mouse zinc-finger protein gene, Zfp352 (formerly 2czf48), that is expressed in early mouse embryos. Here, we report the genomic structure of Zfp352 and its lung-specific homolog, Zfp353. The two genes map on different chromosomes at 4C6 and 8B3.1. Both genes are intronless, except for the presence of a single 4.6-kb intron in the 5' untranslated region of Zfp352. The genes use different RNA start sites located 1.2 kb apart within the 5' homologous region. LINE1 sequences are structurally associated with the genes and form an integral part of Zfp353 transcripts, suggesting previous retrotransposition events. We propose a model of evolution of the genes. The main feature of the model is the presence of a fortuitous upstream promoter and an intron in the first retrotransposition site, creating a pre-Zfp352 gene with a 5' untranslated region intron. A second retrotransposition event copying from the pre-Zfp352 retroposon and removing the fortuitous intron resulted in the intronless Zfp353 at a different chromosomal location and with a different mode of expression. The model may be applicable to other genes with a similar structure with a single intron in the 5' untranslated region. The exact role of LINE1 in the retrotransposition events remains to be elucidated.

Animals↗
PubMed1989

A quantitative genetic model for growth, shape, reaction norms, and other infinite-dimensional characters.

Infinite-dimensional characters are those in which the phenotype of an individual is described by a function, rather than by a finite set of measurements. Examples include growth trajectories, morphological shapes, and norms of reaction. Methods are presented here that allow individual phenotypes, population means, and patterns of variance and covariance to be quantified for infinite-dimensional characters. A quantitative-genetic model is developed, and the recursion equation for the evolution of the population mean phenotype of an infinite-dimensional character is derived. The infinite-dimensional method offers three advantages over conventional finite-dimensional methods when applied to this kind of trait: (1) it describes the trait at all points rather than at a finite number of landmarks, (2) it eliminates errors in predicting the evolutionary response to selection made by conventional methods because they neglect the effects of selection on some parts of the trait, and (3) it estimates parameters of interest more efficiently.

Analysis of Variance↗
PubMed2004

A phylogenetic approach to cultural evolution.

There has been a rapid increase in the use of phylogenetic methods to study the evolution of languages and culture. Languages fit a tree model of evolution well, at least in their basic vocabulary, challenging the view that blending, or admixture among neighbouring groups, was predominant in cultural history. Here, we argue that we can use language trees to test hypotheses about not only cultural history and diversification, but also bio-cultural adaptation. Phylogenetic comparative methods take account of the non-independence of cultures (Galton's problem), which can cause spurious statistical associations in comparative analyses. Advances in phylogenetic methods offer new possibilities for the analysis of cultural evolution, including estimating the rate of evolution and the direction of coevolutionary change of traits on the tree. They also enable phylogenetic uncertainty to be incorporated into the analyses, so that one does not have to treat phylogenetic trees as if they were known without error.

Journal Article↗
PubMed2005

Toric ideals of phylogenetic invariants.

Statistical models of evolution are algebraic varieties in the space of joint probability distributions on the leaf colorations of a phylogenetic tree. The phylogenetic invariants of a model are the polynomials which vanish on the variety. Several widely used models for biological sequences have transition matrices that can be diagonalized by means of the Fourier transform of an Abelian group. Their phylogenetic invariants form a toric ideal in the Fourier coordinates. We determine generators and Gröbner bases for these toric ideals. For the Jukes-Cantor and Kimura models on a binary tree, our Gröbner bases consist of certain explicitly constructed polynomials of degree at most four.

Computational Biology↗
PubMed2001

Analyzing site heterogeneity during protein evolution.

New computational models of the kinetics of natural site substitutions in proteins are described based on the underlying physical chemical properties of the amino acids. The corresponding reduction in the number of adjustable parameters allows us to analyze site-heterogeneity. Applying this evolutionary model to various data sets allows us to identify the important factors constraining molecular evolution, providing insight into the relationship between amino acid properties and protein structure.

Amino Acid Substitution↗
PubMed2003

Connectivity of neutral networks, overdispersion, and structural conservation in protein evolution.

Protein structures are much more conserved than sequences during evolution. Based on this observation, we investigate the consequences of structural conservation on protein evolution. We study seven of the most studied protein folds, determining that an extended neutral network in sequence space is associated with each of them. Within our model, neutral evolution leads to a non-Poissonian substitution process, due to the broad distribution of connectivities in neutral networks. The observation that the substitution process has non-Poissonian statistics has been used to argue against the original Kimura neutral theory, while our model shows that this is a generic property of neutral evolution with structural conservation. Our model also predicts that the substitution rate can strongly fluctuate from one branch to another of the evolutionary tree. The average sequence similarity within a neutral network is close to the threshold of randomness, as observed for families of sequences sharing the same fold. Nevertheless, some positions are more difficult to mutate than others. We compare such structurally conserved positions to positions conserved in protein evolution, suggesting that our model can be a valuable tool to distinguish structural from functional conservation in databases of protein families. These results indicate that a synergy between database analysis and structurally based computational studies can increase our understanding of protein evolution.

Amino Acid Sequence↗
PubMed2003

Molecular systematics and adaptive radiation of Hawaii's endemic Damselfly genus Megalagrion (Odonata: Coenagrionidae).

Damselflies of the endemic Hawaiian genus Megalagrion have radiated into a wide variety of habitats and are an excellent model group for the study of adaptive radiation. Past phylogenetic analysis based on morphological characters has been problematic. Here, we examine relationships among 56 individuals from 20 of the 23 described species using maximum likelihood (ML) and Bayesian phylogenetic analysis of mitochondrial (1287 bp) and nuclear (1039 bp) DNA sequence data. Models of evolution were chosen using the Akaike information criterion. Problems with distant outgroups were accommodated by constraining the best ML ingroup topology but allowing the outgroups to attach to any ingroup branch in a bootstrap analysis. No strong contradictions were obtained between either data partition and the combined data set. Areas of disagreement are mainly confined to clades that are strongly supported by the mitochondrial DNA and weakly supported by the elongation factor 1alpha data because of lack of changes. However, the combined analysis resulted in a unique tree. Correlation between Bayesian posterior probabilities and bootstrap percentages decreased in concert with decreasing information in the data partitions. In cases where nodes were supported by single characters bootstrap proportions were dramatically reduced compared with posterior probabilities. Two speciation patterns were evident from the phylogenetic analysis. First, most speciation is interisland and occurred as members of established ecological guilds colonized new volcanoes after they emerged from the sea. Second, there are several instances of rapid radiation into a variety of specialized habitats, in one case entirely within the island of Kauai. Application of a local clock procedure to the mitochondrial DNA topology suggests that two of these radiations correspond to the development of habitat on the islands of Kauai and Oahu. About 4.0 million years ago, species simultaneously moved into fast streams and plant leaf axils on Kauai, and about 1.5 million years later another group moved simultaneously to seeps and terrestrial habitats on Oahu. Results from the local clock analysis also strongly suggest that Megalagrion arrived in Hawaii about 10 million years ago, well before the emergence of Kauai. Date estimates were more sensitive to the particular node that was fixed in time than to the model of local branch evolution used. We propose a general model for the development of endemic damselfly species on Hawaiian Islands and document five potential cases of hybridization (M. xanthomelas x M. pacificum, M. eudytum x M. vagabundum, M. orobates x M. oresitrophum, M. nesiotes x M. oahuense, and M. mauka x M. paludicola).

Adaptation, Biological↗
PubMedDate not supplied

Phenotypic and dynamical transitions in model genetic networks. II. Application to the evolution of segmentation mechanisms.

Knowledge of the genetic control of segmentation in Drosophila has made insect segmentation a paradigmatic case in the study of the evolution of developmental mechanisms. In Drosophila, the patterns of expression of segmentation genes are established simultaneously in all segments by a complex set of interactions between transcriptional factors that diffuse in a syncytium occupying the whole embryo. Such mechanisms cannot act in short germ-band insects where segments appear sequentially from a cellularized posterior proliferative zone. Here, we compare mechanisms of segmentation in different organisms and discuss how the transition between the different types of segmentation can be explained by small and progressive changes in the underlying gene networks. The recent discovery of a temporal oscillation in expression during somitogenesis of vertebrate homologs of the pair-rule gene hairy enhances the plausibility of an earlier proposal that the evolutionary origin of both the short- and long germ-band modes of segmentation was an oscillatory genetic network (Newman 1993). An implication of this scenario is that the self-organizing, pattern-forming system embodied in an oscillatory network operating in the context of a syncytium (i.e., a reaction-diffusion system)-which is hypothesized to have originated the simultaneous mode of segmentation-must have been replaced by the genetic hierarchy seen in modern-day Drosophila over the course of evolution. As demonstrated by the simulations in the accompanying article, the tendency for "emergent" genetic networks, associated with self-organizing processes, to be replaced through natural selection with hierarchical networks is discussed in relation to the evolution of segmentation.

Animals↗
PubMed2004

Weighted evolving networks: coupling topology and weight dynamics.

We propose a model for the growth of weighted networks that couples the establishment of new edges and vertices and the weights' dynamical evolution. The model is based on a simple weight-driven dynamics and generates networks exhibiting the statistical properties observed in several real-world systems. In particular, the model yields a nontrivial time evolution of vertices' properties and scale-free behavior for the weight, strength, and degree distributions.

Ecology↗
PubMed2000

Extinctions and taxonomy in a trophic model of coevolution.

We investigate the statistics of extinction sizes and the taxonomy in a trophic model of evolution recently proposed [Phys. Rev. Lett. 82, 652 (1999)]. By further exploring the parameters of this model, we find that the distribution of extinction sizes N(s) shows typically a characteristic maximum before developing the power-law behavior N(s) approximately s(-alpha) with alpha approximately 2, in agreement with empirical observations. Furthermore, the derivation of the alpha=-2 exponent given by Drossel [Phys. Rev. Lett. 81, 5011 (1998)] for this model is completed. The extinction sizes in each trophic level are also analyzed; one finds that at the fourth level and up (l> or =4) the extinction size statistics is a power law with exponent alpha(l) approximately 1.4, and exponential-like at the second level, also in agreement with some empirical data not previously explained by current models. On the other hand, in contrast to the observed power-law distribution of the number of species in genera, numerical simulations yield an exponential law. A modification of the model is presented that provides an approximate potential behavior for taxonomy, and some consequences for future modeling are outlined.

Biological Evolution↗
PubMed1990

Population dynamics of Trichostrongylus colubriformis in sheep: computer model to simulate grazing systems and the evolution of anthelmintic resistance.

A computer model was developed to simulate Trichostrongylus colubriformis populations, their level of resistance to the common anthelmintics, host mortalities and acquired immunity. Predictions were based on sheep management practices such as lambing, weaning, sheep/paddock rotation, anthelmintic treatment, the use of controlled release devices (capsules) for anthelmintic delivery and daily meteorological records to determine the development and survival of infective larvae (L3) on pasture. Evolution of drug resistance was determined by a simple genetic system which allowed for up to three genes, each with two alleles, to give a maximum of 27 genotypes associated with one drug or three genotypes for each of three drugs. The model was validated against egg counts, L3 counts on pasture and host mortalities observed in a grazing trial, however, aspects of the model such as the development of drug resistance and use of the model in a variety of climatic zones have yet to be tested against field observations. The model was used to examine the impact of grazing management and capsule use on anthelmintic resistance and sheep production over 20 years using historical weather data. Predictions indicated that grazing management can play a dominant role in parasite control and that capsule use will reduce sheep mortalities and production losses, and in some circumstances will not cause a substantial increase in anthelmintic resistance for up to 5 years.

Animals↗
PubMed1991

Evolving models of family-centered services in neonatal intensive care.

The article examines the evolution of models for providing family-centered services in neonatal intensive care settings. Child-focused, parent-infant interaction, and ecological models are presented and discussed. One specific ecological model, the family-centered care model, is examined in detail. While most current programs endorsed family-centered care (FCC) as a "best practice" for developmental intervention with infants, few were found that implemented these practices. Most utilized only limited components of FCC. Instead, programs operating in NICU settings had features directed toward child care, staff training, family support and transition to the community, rather than impacting the philosophy of care and/or service delivery system in the NICU. Suggestions for working toward FCC in NICU settings are given and barriers are discussed.

Child, Hospitalized↗
PubMed1985

tRNA-rRNA sequence homologies: evidence for an ancient modular format shared by tRNAs and rRNAs.

Homologies between tRNAs and rRNAs are identified in searches using various combinations of Escherichia coli, yeast, Halobacterium volcanii and bovine mitochondrial sequences. As in previously reported comparisons, the homologies are too frequent and long to be attributed to coincidence, and similar frequencies from inter- and intraspecies comparisons preclude evolutionary convergence as an explanation. In contrast to the earlier studies, patterns in the positioning of the homologies are now described. Graphing the positions of the homologies along orthogonal axes that represent numbers of bases in tRNA and rRNA shows recurring patterns in the alignments. Preferred spacings of integral multiples of 9 bases are found, suggesting a periodicity in the ancestral structure from which the tRNAs and rRNAs were derived. The periodicity also suggests persistence of a modular format in both classes of molecules that survived changes in sequence that occurred during evolution. A model is proposed for the generation of the ancestral molecule and the early evolution of the coding mechanism. Elongation by self-priming and self-templating gave a hairpin with a 9 base stem. Two additional cycles gave a 70-80 base tRNA-like structure. Additional cycles yielded a tandem repeat of this unit, roughly equivalent in size to the combined rRNAs of prokaryotes. The larger RNA would contain the information and materials for generating the smaller RNAs. It is proposed that multiple recombination among such molecules gave composite structures, presumed progenitors of today's t- and rRNAs. The distribution of the conserved domains among today's species argues for the existence of the ancestral molecule prior to divergence of lines leading to the various kingdoms. Their presence in the different nucleic acids suggests the existence of a nucleic acid with multiple functions prior to partitioning of these functions among the nucleic acids that exist today. The occurrence of overlaps, overlays and consensus alignments among the homologies provides the means for identifying contiguous and neighboring conserved regions and holds promise for the reconstruction of the sequence of an ancestral molecule.

Animals↗
PubMed1992

Intron evolution: a statistical comparison of two models.

The two most frequently occurring explanations for the existence and distribution of introns in the genes of different species are: (1) introns are remnants of the original genetic material. (2) Introns were introduced during evolution. We construct mathematical models corresponding to these two explanations, and calculate the probabilities that the intron distribution in genes from different species coding for actin, alpha-tubulin, triosephosphate isomerase and superoxide dismutase are described by these models. In both models, the branch lengths as well as the structure of the corresponding evolutionary tree is taken into account. Every branch in the evolutionary tree is assumed to have its own individual rate of loss of introns for the first model and rate of gain of introns for the second model. These rate constants are estimated from the actual number of introns. Using the rate constants we stimulate the intron evolution and calculate the probabilities that the actual intron arrangements are produced. The results for actin and alpha-tubulin, which are the two genes we have the most data for, favor the model corresponding conjecture (1), i.e. the idea that introns are old. This contradicts the results from an earlier attempt to model intron evolution where almost the same data was used (Dibb & Newman, 1989, EMBO J. 8, 2015-2021).

Actins↗
PubMed1995

Mixed model analysis of DNA sequence evolution.

Nucleotides in a DNA sequence may be changing at different rates, because they are located in different structural and functional regions of the gene, and are thus subject to different mutational pressures or selective restrictions. Knowledge of substitution rates at specific sites is important for understanding the forces and mechanisms that have shaped the evolution of the DNA sequences. The gamma distribution has previously been proposed to model such rate variation among nucleotide sites. Based on mixed model methodology we present in this paper a method for predicting substitution rates at nucleotide sites by using homologous DNA sequences. The predictor is unbiased and "best" in the sense that it minimizes the mean squared error and maximizes the correlation between the predictor and the true value. It is also quite robust to errors in estimates of parameters in the model. A numerical example is given, with guidelines for the practical use of the approach. The most influential factor affecting the accuracy of prediction is the number of sequences; to get a correlation of over .7 between the predictor and the true value, about six to seven sequences are needed, depending on the overall similarity of the sequences.

Animals↗