Ancestral Reconstruction Methods Research Articles

Testing Inferences about Language Contact on Morphosyntax: A Typological Case Study on Alorese–Adang Contact

AbstractWhen linguists make inferences about language contact, control data is required for reliable analysis. Historical data or reconstructions are typically used for that purpose. However, historical data is globally mostly unavailable, and reconstructions are laborious if comparing outcomes of language contact in a typological way. We assess a recent typological proposal (Di Garbo & Napoleão de Souza 2023) that argues that using a single language, called Benchmark language, can serve as a viable control for making inferences about contact. To evaluate this approach, we use as a case study a documented contact situation in Eastern Indonesia between the Austronesian language Alorese and the Papuan language Adang. We sample languages related to Alorese and use computational phylogenetic methods for ancestral reconstruction to analyse if using a single Benchmark produces deviating inferences about contact compared to using Bayesian ancestral reconstructions. Additionally, we test for isolation by distance effects by analysing if the probability of contact effects correlates with increasing geographic distance from the contact region. The results suggest that no isolation by distance effects exist in the data and that none of the single Benchmarks significantly deviate from the ancestral reconstructions.

Phylogenomics of braconid wasps (Hymenoptera, Braconidae) sheds light on classification and the evolution of parasitoid life history traits

The parasitoid lifestyle is largely regarded as a key innovation that contributed to the evolutionary success and extreme species richness of the order Hymenoptera. Understanding the phylogenetic history of hyperdiverse parasitoid groups is a fundamental step in elucidating the evolution of biological traits linked to parasitoidism. We used a genomic-scale dataset based on ultra-conserved elements and the most comprehensive taxon sampling to date to estimate the evolutionary relationships of Braconidae, the second largest family of Hymenoptera. Based on our results, we propose Braconidae to comprise 41 extant subfamilies, confirmed a number of subfamilial placements and proposed subfamily-level taxonomic changes, notably the restoration of Trachypetinae stat. rev. and Masoninae stat. rev. as subfamilies of Braconidae, confirmation that Apozyx penyai Mason belongs in Braconidae placed in the subfamily Apozyginae and the recognition of Ichneutinae sensu stricto and Proteropinae as non-cyclostome subfamilies robustly supported in a phylogenetic context. The correlation between koinobiosis with endoparasitoidism and idiobiosis with ectoparasitoidism, long thought to be an important aspect in parasitoid life history, was formally tested and confirmed in a phylogenetic framework. Using ancestral reconstruction methods based on both parsimony and maximum likelihood, we suggest that the ancestor of the braconoid complex was a koinobiont endoparasitoid, as was that of the cyclostome sensu lato clade. Our results also provide strong evidence for one transition from endo- to ectoparasitoidism and three reversals back to endoparasitoidism within the cyclostome sensu stricto lineage. Transitions of koino- and idiobiosis were identical to those inferred for endo- versus ectoparasitoidism, except with one additional reversal back to koinobiosis in the small subfamily Rhysipolinae.

Influence of niche breadth and position on the historical biogeography of seafaring scincid lizards

Abstract Niche breadth and position can influence diversification among closely related species or populations, yet limited empirical data exist concerning the predictability of the outcomes. We explored the effects of these factors on the evolution of the Emoia atrocostata species group, an insular radiation of lizards in the western Pacific Ocean and Indo-Australasia composed of both endemic and widespread species that differ in niche occupancy. We used molecular data and phylogeographical diffusion models to estimate the timing and patterns of range expansion, and ancestral reconstruction methods to infer shifts in ecology. We show evidence of multidirectional spread from a centre of origin in western Micronesia, and that the phyletic diversity of the group is derived from a putative habitat specialist that survives in the littoral zone. This species is composed of paraphyletic lineages that represent stages or possible endpoints in the continuum toward speciation. Several descendant species have transitioned to either strand or interior forest habitat, but only on remote islands with depauperate terrestrial faunas. Our results suggest that the atrocostata group might be in the early phases of a Wilsonian taxon cycle and that the capacity to tolerate salt stress has promoted dispersal and colonization of remote oceanic islands. Divergence itself, however, is largely driven by geographical isolation rather than shifts in ecology.

MapGL: inferring evolutionary gain and loss of short genomic sequence features by phylogenetic maximum parsimony

BackgroundComparative genomics studies are growing in number partly because of their unique ability to provide insight into shared and divergent biology between species. Of particular interest is the use of phylogenetic methods to infer the evolutionary history of cis-regulatory sequence features, which contribute strongly to phenotypic divergence and are frequently gained and lost in eutherian genomes. Understanding the mechanisms by which cis-regulatory element turnover generate emergent phenotypes is crucial to our understanding of adaptive evolution. Ancestral reconstruction methods can place species-specific cis-regulatory features in their evolutionary context, thus increasing our understanding of the process of regulatory sequence turnover. However, applying these methods to gain and loss of cis-regulatory features historically required complex workflows, preventing widespread adoption by the broad scientific community.ResultsMapGL simplifies phylogenetic inference of the evolutionary history of short genomic sequence features by combining the necessary steps into a single piece of software with a simple set of inputs and outputs. We show that MapGL can reliably disambiguate the mechanisms underlying differential regulatory sequence content across a broad range of phylogenetic topologies and evolutionary distances. Thus, MapGL provides the necessary context to evaluate how genomic sequence gain and loss contribute to species-specific divergence.ConclusionsMapGL makes phylogenetic inference of species-specific sequence gain and loss easy for both expert and non-expert users, making it a powerful tool for gaining novel insights into genome evolution.

RASP 4: Ancestral State Reconstruction Tool for Multiple Genes and Characters.

With the continual progress of sequencing techniques, genome-scale data are increasingly used in phylogenetic studies. With more data from throughout the genome, the relationship between genes and different kinds of characters is receiving more attention. Here, we present version 4 of RASP, a software to reconstruct ancestral states through phylogenetic trees. RASP can apply generalized statistical ancestral reconstruction methods to phylogenies, explore the phylogenetic signal of characters to particular trees, calculate distances between trees, and cluster trees into groups. RASP 4 has an improved graphic user interface and is freely available from http://mnh.scu.edu.cn/soft/blog/RASP (program) and https://github.com/sculab/RASP (source code).

Genome content analysis yields new insights into the relationship between the human malaria parasite Plasmodium falciparum and its anopheline vectors

BackgroundThe persistent and growing gap between the availability of sequenced genomes and the ability to assign functions to sequenced genes led us to explore ways to maximize the information content of automated annotation for studies of anopheline mosquitos. Specifically, we use genome content analysis of a large number of previously sequenced anopheline mosquitos to follow the loss and gain of protein families over the evolutionary history of this group.The importance of this endeavor lies in the potential for comparative genomic studies between Anopheles and closely related non-vector species to reveal ancestral genome content dynamics involved in vector competence. In addition, comparisons within Anopheles could identify genome content changes responsible for variation in the vectorial capacity of this family of important parasite vectors.ResultsThe competence and capacity of P. falciparum vectors do not appear to be phylogenetically constrained within the Anophelinae. Instead, using ancestral reconstruction methods, we suggest that a previously unexamined component of vector biology, anopheline nucleotide metabolism, may contribute to the unique status of anophelines as P. falciparum vectors. While the fitness effects of nucleotide co-option by P. falciparum parasites on their anopheline hosts are not yet known, our results suggest that anopheline genome content may be responding to selection pressure from P. falciparum. Whether this response is defensive, in an attempt to redress improper nucleotide balance resulting from P. falciparum infection, or perhaps symbiotic, resulting from an as-yet-unknown mutualism between anophelines and P. falciparum, is an open question that deserves further study.ConclusionsClearly, there is a wealth of functional information to be gained from detailed manual genome annotation, yet the rapid increase in the number of available sequences means that most researchers will not have the time or resources to manually annotate all the sequence data they generate. We believe that efforts to maximize the amount of information obtained from automated annotation can help address the functional annotation deficit that most evolutionary biologists now face, and here demonstrate the value of such an approach.

Reconstructing ancestral gene orders with duplications guided by synteny level genome reconstruction.

BackgroundReconstructing ancestral gene orders in the presence of duplications is important for a better understanding of genome evolution. Current methods for ancestral reconstruction are limited by either computational constraints or the availability of reliable gene trees, and often ignore duplications altogether. Recently, methods that consider duplications in ancestral reconstructions have been developed, but the quality of reconstruction, counted as the number of contiguous ancestral regions found, decreases rapidly with the number of duplicated genes, complicating the application of such approaches to mammalian genomes. However, such high fragmentation is not encountered when reconstructing mammalian genomes at the synteny-block level, although the relative positions of genes in such reconstruction cannot be recovered.ResultsWe propose a new heuristic method, MultiRes, to reconstruct ancestral gene orders with duplications guided by homologous synteny blocks for a set of related descendant genomes. The method uses a synteny-level reconstruction to break the gene-order problem into several subproblems, which are then combined in order to disambiguate duplicated genes. We applied this method to both simulated and real data. Our results showed that MultiRes outperforms other methods in terms of gene content, gene adjacency, and common interval recovery.ConclusionsThis work demonstrates that the inclusion of synteny-level information can help us obtain better gene-level reconstructions. Our algorithm provides a basic toolbox for reconstructing ancestral gene orders with duplications. The source code of MultiRes is available on https://github.com/ma-compbio/MultiRes.Electronic supplementary materialThe online version of this article (doi:10.1186/s12859-016-1262-8) contains supplementary material, which is available to authorized users.

Fast ancestral gene order reconstruction of genomes with unequal gene content.

BackgroundDuring evolution, genomes are modified by large scale structural events, such as rearrangements, deletions or insertions of large blocks of DNA. Of particular interest, in order to better understand how this type of genomic evolution happens, is the reconstruction of ancestral genomes, given a phylogenetic tree with extant genomes at its leaves. One way of solving this problem is to assume a rearrangement model, such as Double Cut and Join (DCJ), and find a set of ancestral genomes that minimizes the number of events on the input tree. Since this problem is NP-hard for most rearrangement models, exact solutions are practical only for small instances, and heuristics have to be used for larger datasets. This type of approach can be called event-based. Another common approach is based on finding conserved structures between the input genomes, such as adjacencies between genes, possibly also assigning weights that indicate a measure of confidence or probability that this particular structure is present on each ancestral genome, and then finding a set of non conflicting adjacencies that optimize some given function, usually trying to maximize total weight and minimizing character changes in the tree. We call this type of methods homology-based.ResultsIn previous work, we proposed an ancestral reconstruction method that combines homology- and event-based ideas, using the concept of intermediate genomes, that arise in DCJ rearrangement scenarios. This method showed better rate of correctly reconstructed adjacencies than other methods, while also being faster, since the use of intermediate genomes greatly reduces the search space. Here, we generalize the intermediate genome concept to genomes with unequal gene content, extending our method to account for gene insertions and deletions of any length. In many of the simulated datasets, our proposed method had better results than MLGO and MGRA, two state-of-the-art algorithms for ancestral reconstruction with unequal gene content, while running much faster, making it more scalable to larger datasets.ConclusionStuding ancestral reconstruction problems under a new light, using the concept of intermediate genomes, allows the design of very fast algorithms by greatly reducing the solution search space, while also giving very good results. The algorithms introduced in this paper were implemented in an open-source software called RINGO (ancestral Reconstruction with INtermediate GenOmes), available at https://github.com/pedrofeijao/RINGO.

Gradual neofunctionalization in the convergent evolution of trichomonad lactate and malate dehydrogenases.

Lactate and malate dehydrogenases (LDH and MDH) are homologous, core metabolic enzymes common to nearly all living organisms. LDHs have evolved convergently from MDHs at least four times, achieving altered substrate specificity by a different mechanism each time. For instance, the LDH of anaerobic trichomonad parasites recently evolved independently from an ancestral trichomonad MDH by gene duplication. LDH plays a central role in trichomonad metabolism by catalyzing the reduction of pyruvate to lactate, thereby regenerating the NAD+ required for glycolysis. Using ancestral reconstruction methods, we identified the biochemical and evolutionary mechanisms responsible for this convergent event. The last common ancestor of these enzymes was a highly specific MDH, similar to modern trichomonad MDHs. In contrast, the LDH lineage evolved promiscuous activity by relaxing specificity in a gradual process of neofunctionalization involving one highly detrimental substitution at the “specificity residue” (R91L) and many additional mutations of small effect. L91 has different functional consequences in LDHs and in MDHs, indicating a prominent role for epistasis. Crystal structures of modern‐day and ancestral enzymes show that the evolution of substrate specificity paralleled structural changes in dimerization and α‐helix orientation. The relatively small “specificity residue” of the trichomonad LDHs can accommodate a range of substrate sizes and may permit solvent to access the active site, both of which promote substrate promiscuity. The trichomonad LDHs present a multi‐faceted counterpoint to the independent evolution of LDHs in other organisms and illustrate the diverse mechanisms by which protein function, structure, and stability coevolve.

A cladistic reconstruction of the ancestral mite harvestman (Arachnida, Opiliones, Cyphophthalmi): portrait of a Paleozoic detritivore.

Two character sets composed of continuous measurements and shape descriptors for mite harvestmen (Arachnida, Opiliones, Cyphophthalmi) were used to reconstruct the morphology of the cyphophthalmid ancestor and explore different methods for ancestral reconstruction as well as the influence of terminal sets and phylogenetic topologies. Characters common to both data sets were used to evaluate linear parsimony, averaging, maximum likelihood and Bayesian methods on seven different phylogenies found in earlier studies. Two methods-linear parsimony implemented in TNT and nested averaging-generated reconstructions that were (i) not predisposed to comprising simple averages of characters and (ii) in broad agreement with alternative methods commonly used. Of these two methods, linear parsimony yielded significantly similar reconstructions from two independent Cyphophthalmi data sets, and exhibited comparatively low ambiguity in the values of ancestral characters. Therefore complete sets of continuous characters were optimized using linear parsimony on trees found from "total evidence" data sets. The resulting images of the ancestral Cyphophthalmi suggest it was a small animal with robust appendages and a lens-less eye, much like many of today's species, but not what might be expected from hypothetical reconstructions of Paleozoic vegetation debris, where Cyphophthalmi likely originated. © The Willi Hennig Society 2012.

The historical biogeography of Mammalia

Palaeobiogeographic reconstructions are underpinned by phylogenies, divergence times and ancestral area reconstructions, which together yield ancestral area chronograms that provide a basis for proposing and testing hypotheses of dispersal and vicariance. Methods for area coding include multi-state coding with a single character, binary coding with multiple characters and string coding. Ancestral reconstruction methods are divided into parsimony versus Bayesian/likelihood approaches. We compared nine methods for reconstructing ancestral areas for placental mammals. Ambiguous reconstructions were a problem for all methods. Important differences resulted from coding areas based on the geographical ranges of extant species versus the geographical provenance of the oldest fossil for each lineage. Africa and South America were reconstructed as the ancestral areas for Afrotheria and Xenarthra, respectively. Most methods reconstructed Eurasia as the ancestral area for Boreoeutheria, Euarchontoglires and Laurasiatheria. The coincidence of molecular dates for the separation of Afrotheria and Xenarthra at approximately 100 Ma with the plate tectonic sundering of Africa and South America hints at the importance of vicariance in the early history of Placentalia. Dispersal has also been important including the origins of Madagascar's endemic mammal fauna. Further studies will benefit from increased taxon sampling and the application of new ancestral area reconstruction methods.

Life-History Correlates of Placental Structure in Eutherian Evolution

The eutherian placenta shows remarkable evolutionary plasticity. To date, however, success in identifying selection pressures behind the observed diversity of placental structures has been limited. Evolutionary convergence among definitive placental morphologies and between placental morphologies and life-history variables can be used to suggest functions of derived aspects of placentation. In this paper, we use, for the first time, a comprehensive phylogenetic comparative approach to map phenotypic character states of both placental morphologies and life-history characteristics of species onto hypotheses of phylogenetic relationships in Eutheria. We employ phylogenetic methods for ancestral reconstruction, mutational mapping, and association analysis to resolve associations between five aspects of placental structure and to identify dominant combinations, or syndromes, of placental morphology. We map twenty life-history characters onto the eutherian phylogeny to examine how they correlate, over evolutionary time, with the multivariate diversification of placental structures. We identify two distinct eutherian constellations, based on associations between life-history and placental structure, which broadly reflect a dichotomy between slow and fast life-history strategies. In addition, we suggest that the observed association between placental invasiveness and group size is indicative of the effect of social behavior on the utility of genomic-imprinting in eutherian evolution.

Analysis on the reconstruction accuracy of the Fitch method for inferring ancestral states

BackgroundAs one of the most widely used parsimony methods for ancestral reconstruction, the Fitch method minimizes the total number of hypothetical substitutions along all branches of a tree to explain the evolution of a character. Due to the extensive usage of this method, it has become a scientific endeavor in recent years to study the reconstruction accuracies of the Fitch method. However, most studies are restricted to 2-state evolutionary models and a study for higher-state models is needed since DNA sequences take the format of 4-state series and protein sequences even have 20 states.ResultsIn this paper, the ambiguous and unambiguous reconstruction accuracy of the Fitch method are studied for N-state evolutionary models. Given an arbitrary phylogenetic tree, a recurrence system is first presented to calculate iteratively the two accuracies. As complete binary tree and comb-shaped tree are the two extremal evolutionary tree topologies according to balance, we focus on the reconstruction accuracies on these two topologies and analyze their asymptotic properties. Then, 1000 Yule trees with 1024 leaves are generated and analyzed to simulate real evolutionary scenarios. It is known that more taxa not necessarily increase the reconstruction accuracies under 2-state models. The result under N-state models is also tested.ConclusionsIn a large tree with many leaves, the reconstruction accuracies of using all taxa are sometimes less than those of using a leaf subset under N-state models. For complete binary trees, there always exists an equilibrium interval [a, b] of conservation probability, in which the limiting ambiguous reconstruction accuracy equals to the probability of randomly picking a state. The value b decreases with the increase of the number of states, and it seems to converge. When the conservation probability is greater than b, the reconstruction accuracies of the Fitch method increase rapidly. The reconstruction accuracies on 1000 simulated Yule trees also exhibit similar behaviors. For comb-shaped trees, the limiting reconstruction accuracies of using all taxa are always less than or equal to those of using the nearest root-to-leaf path when the conservation probability is not less than . As a result, more taxa are suggested for ancestral reconstruction when the tree topology is balanced and the sequences are highly similar, and a few taxa close to the root are recommended otherwise.

Ancestral sequence reconstruction in primate mitochondrial DNA: compositional bias and effect on functional inference.

Reconstruction of ancestral DNA and amino acid sequences is an important means of inferring information about past evolutionary events. Such reconstructions suggest changes in molecular function and evolutionary processes over the course of evolution and are used to infer adaptation and convergence. Maximum likelihood (ML) is generally thought to provide relatively accurate reconstructed sequences compared to parsimony, but both methods lead to the inference of multiple directional changes in nucleotide frequencies in primate mitochondrial DNA (mtDNA). To better understand this surprising result, as well as to better understand how parsimony and ML differ, we constructed a series of computationally simple "conditional pathway" methods that differed in the number of substitutions allowed per site along each branch, and we also evaluated the entire Bayesian posterior frequency distribution of reconstructed ancestral states. We analyzed primate mitochondrial cytochrome b (Cyt-b) and cytochrome oxidase subunit I (COI) genes and found that ML reconstructs ancestral frequencies that are often more different from tip sequences than are parsimony reconstructions. In contrast, frequency reconstructions based on the posterior ensemble more closely resemble extant nucleotide frequencies. Simulations indicate that these differences in ancestral sequence inference are probably due to deterministic bias caused by high uncertainty in the optimization-based ancestral reconstruction methods (parsimony, ML, Bayesian maximum a posteriori). In contrast, ancestral nucleotide frequencies based on an average of the Bayesian set of credible ancestral sequences are much less biased. The methods involving simpler conditional pathway calculations have slightly reduced likelihood values compared to full likelihood calculations, but they can provide fairly unbiased nucleotide reconstructions and may be useful in more complex phylogenetic analyses than considered here due to their speed and flexibility. To determine whether biased reconstructions using optimization methods might affect inferences of functional properties, ancestral primate mitochondrial tRNA sequences were inferred and helix-forming propensities for conserved pairs were evaluated in silico. For ambiguously reconstructed nucleotides at sites with high base composition variability, ancestral tRNA sequences from Bayesian analyses were more compatible with canonical base pairing than were those inferred by other methods. Thus, nucleotide bias in reconstructed sequences apparently can lead to serious bias and inaccuracies in functional predictions.

Recreating a functional ancestral archosaur visual pigment.

The ancestors of the archosaurs, a major branch of the diapsid reptiles, originated more than 240 MYA near the dawn of the Triassic Period. We used maximum likelihood phylogenetic ancestral reconstruction methods and explored different models of evolution for inferring the amino acid sequence of a putative ancestral archosaur visual pigment. Three different types of maximum likelihood models were used: nucleotide-based, amino acid-based, and codon-based models. Where possible, within each type of model, likelihood ratio tests were used to determine which model best fit the data. Ancestral reconstructions of the ancestral archosaur node using the best-fitting models of each type were found to be in agreement, except for three amino acid residues at which one reconstruction differed from the other two. To determine if these ancestral pigments would be functionally active, the corresponding genes were chemically synthesized and then expressed in a mammalian cell line in tissue culture. The expressed artificial genes were all found to bind to 11-cis-retinal to yield stable photoactive pigments with lambda(max) values of about 508 nm, which is slightly redshifted relative to that of extant vertebrate pigments. The ancestral archosaur pigments also activated the retinal G protein transducin, as measured in a fluorescence assay. Our results show that ancestral genes from ancient organisms can be reconstructed de novo and tested for function using a combination of phylogenetic and biochemical methods.

The Case of Tarsier Hemoglobin

by other methods of ancestral reconstruction. Critics also argue that it is not possible to determine which of several alternative topologies, differing by a small number of NR's, most closely reflects cladogeny since the statistical significance of the NR score differences is unknown. A careful investigation of the method of these critics reveals that their method is nonrigorous, nonreplicable and produces erroneous results. The need for rigorous, automated systems of data analysis in studies of molecular evolution is made apparent, particularly in light of the voluminous nature of the data. We here describe a series of parsimony tests conducted with globin amino acid sequence data, focusing on the position of Tarsius within Primates, in order to illustrate the importance of interpreting NR score differences within a context which includes the number of lineages represented in a data set, the density of the lineages in particular regions of a dendrogram and the exact nature of the changes attributed to specific NR savings. Analyzed within the context of these changing parameters, small NR score differences between alternative topologies can be meaningful and do produce results with significant confidence. The phylogenetic relationship of Tarsius to Anthropoidea, as well as other important issues in primate systematics, are expected to be greatly clarified with the gathering and rigorous analysis of nucleotide sequence data which can resolve the difficulties presented by convergent evolution and paralogous gene lines. [Tarsier phylogeny; maximum parsimony methodology; molecular evolution; primate evolution; molecular anthropology; hemoglobin phylogeny.]