The understanding of diversification of intraspecific lineages can shed light on speciation processes and ultimately biogeographic patterns across multiple spatial and temporal scales. In this dissertation I investigated the geographical and ecological factors promoting diversification across the South American dry diagonal biomes (i.e. Cerrado, Chaco, and Seasonally Dry Tropical Forests - SDTFs), through a coupled approach between multilocus phylogeographic and geospatial methods, in the larger context of interpreting the consequences of the resulting patterns for the conservation of biodiversity and evolutionary processes. In Chapter 1 I evaluate biogeographic hypotheses previously proposed and emphasize that the dry diagonal biomes are particularly biodiverse and biogeographically complex, but poorly studied and under protected. I also propose testable predictions for the subsequent chapters and future diversification studies. In the subsequent chapters I adopt a biodiversity prediction approach based on estimating palaeodistributions and habitat stability surfaces to formulate and test spatially explicit diversification hypotheses based on squamate richness and phylogeography. In Chapter 2 I identify historically stable areas of SDTFs and in Chapter 3 I found that the historical climatic stability is a good predictor of Cerrado squamate richness. In Chapter 4 I use a multilocus dataset to estimate the phylogenetic relationships among described species of the lizard genus Phyllopezus (Phyllodactylidae), distributed across the ‘dry diagonal’ biomes. In Chapter 5 I used a dense sampling design focused in the species complex P. pollicaris (more individuals, localities, and markers), and coalescent phylogeographic methods to test the relative influences of Tertiary geomorphological vs. Quaternary climatic events on diversification in this lizard. I found unprecedented levels of cryptic genetic diversity, deep phylogeographic structure, and diversification dating back to at least the Neogene with persistence across Quaternary fluctuations. My dissertation emphasizes that patterns of diversification across the ‘dry diagonal’ biomes are much more complex than previously proposed and reflect the primary influence of geologically old processes. Evidence of allopatric and ecological speciation between lineages that coincide with genetic clusters associated with each of the biomes, contradicts early views that the biomes would have a shared diversification history. These patterns illustrate that low-vagility complexes, characterized by strong structure and pre-Pleistocene divergences, represent ideal radiations to investigate broad biogeography of associated biomes. Future studies should investigate patterns of temporal and spatial congruence across co-distributed taxa, and integrate morphological and further ecological data to refine species limits, taxonomy, and patterns of trait evolution across these radiations.

A phylogenetic tree is used to model gene evolution and species evolution using molecular sequence data. For artifactual and biological reasons, a gene tree may differ from a species tree, a phenomenon known as gene tree-species tree incongruence. Assuming the presence of one or more evolutionary events, e.g., gene duplication, gene loss, and lateral gene transfer (LGT), the incongruence may be explained using a reconciliation of a gene tree inside a species tree. Such information has biological utilities, e.g., inference of orthologous relationship between genes. In this thesis, we present probabilistic models and methods for orthology analysis and species tree inference, while accounting for evolutionary factors such as gene duplication, gene loss, and sequence evolution. Furthermore, we use a probabilistic LGT-aware model for inferring gene trees having temporal information for duplication and LGT events. In the first project, we present a Bayesian method, called DLRSOrthology, for estimating orthology probabilities using the DLRS model: a probabilistic model integrating gene evolution, a relaxed molecular clock for substitution rates, and sequence evolution. We devise a dynamic programming algorithm for efficiently summing orthology probabilities over all reconciliations of a gene tree inside a species tree. Furthermore, we present heuristics based on receiver operating characteristics (ROC) curve to estimate suitable thresholds for deciding orthology events. Our method, as demonstrated by synthetic and biological results, outperforms existing probabilistic approaches in accuracy and is robust to incomplete taxon sampling artifacts. In the second project, we present a probabilistic method, based on a mixture model, for species tree inference. The method employs a two-phase approach, where in the first phase, a structural expectation maximization algorithm, based on a mixture model, is used to reconstruct a maximum likelihood set of candidate species trees. In the second phase, in order to select the best species tree, each of the candidate species tree is evaluated using PrIME-DLRS: a method based on the DLRS model. The method is accurate, efficient, and scalable when compared to a recent probabilistic species tree inference method called PHYLDOG. We observe that, in most cases, the analysis constituted only by the first phase may also be used for selecting the target species tree, yielding a fast and accurate method for larger datasets. Finally, we devise a probabilistic method based on the DLTRS model: an extension of the DLRS model to include LGT events, for sampling reconciliations of a gene tree inside a species tree. The method enables us to estimate gene trees having temporal information for duplication and LGT events. To the best of our knowledge, this is the first probabilistic method that takes gene sequence data directly into account for sampling reconciliations that contains information about LGT events. Based on the synthetic data analysis, we believe that the method has the potential to identify LGT highways. / <p>QC 20150529</p>

Despite more than 50 years of research on the genetic basis of speciation, we still know very little about the early stages of this process. A general rule of speciation is the Haldane’s Rule, which states that postzygotic isolation is expressed earlier in the heterogametic sex: sterility and inviability in hybrids is much more likely to occur in the heterogametic sex. However, it is still unknown how long hybrid sterility takes to be established in the heterogametic sex, since most studies have focused on highly divergent species that no longer hybridize in nature. The meadow grasshopper (Chorthippus parallelus) is a suitable system to shed light on this matter because hybrid male sterility exists between subspecies that show low divergence and are still able to hybridize readily in nature. C. p. parallelus is distributed throughout Northern, Central and Eastern Europe while C. p. erythropus is restricted to the Iberian Peninsula. Both subspecies meet in the Pyrenees, where they form a narrow hybrid zone. Yet, it is unknown 1) how long ago have these subspecies diverged and 2) how have they expanded to form the hybrid zone where these incompatibilities take place. Here, we applied phylogenomic methods to estimate the time of divergence of the subspecies and to study its phylogeographic history. Using the mitogenome and known mitochondrial rates of evolution, we dated the diversification of the subspecies ≈100,000 years ago and found six ancient mitochondrial haplotypes. Implementing coalescent theory to estimate a nuclear species tree, we found evidence of sub-refugia within two or three main refugia and that the hybrid zone originated from a recent post-glacial expansion from one sub-refugia. Haldane’s rule evolved rapidly in C. parallelus, within ≈100,000 years, with demographic processes, such as population expansion. Founder effect reduced genetic diversity in C. parallelus parallelus, with the possibility of fixing incompatible alleles with C. parallelus erythropus resulting in hybrid male sterility.

I focus on phylogenetic relationships of teiid lizards beginning with generic and species relationship within the family, followed by a detailed biogeographical examination of the Caribbean genus Pholidoscelis, and end by studying species boundaries and phylogeographic patterns of the widespread Giant Ameiva Ameiva ameiva. Genomic data (488,656 bp of aligned nuclear DNA) recovered a well-supported phylogeny for Teiidae, showing monophyly for 18 genera including those recently described using morphology and smaller molecular datasets. All three methods of phylogenetic estimation (two species tree, one concatenation) recovered identical topologies except for some relationships within the subfamily Tupinambinae (i.e. position of Salvator and Dracaena) and species relationships within Pholidoscelis, but these were unsupported in all analyses. Phylogenetic reconstruction focused on Caribbean Pholidoscelis recovered novel relationships not reported in previous studies that were based on significantly smaller datasets. Using fossil data, I improve upon divergence time estimates and hypotheses for the biogeographic history of the genus. It is proposed that Pholidoscelis colonized the Caribbean islands through the Lesser Antilles based on biogeographic analysis, the directionality of ocean currents, and evidence that most Caribbean taxa originally colonized from South America. Genetic relationships among populations within the Ameiva ameiva species complex have been poorly understood as a result of its continental-scale distribution and an absence of molecular data for the group. Mitochondrial ND2 data for 357 samples from 233 localities show that A. ameiva may consist of up to six species, with pairwise genetic distances among these six groups ranging from 4.7–12.8%. An examination of morphological characters supports the molecular findings with prediction accuracy of the six clades reaching 72.5% using the seven most diagnostic predictors.

This dissertation focus on spontaneously developed forests (SDFs) on mesic stands. The present tree layer was described and the possible changes in the tree layer was estimated. Influence of site- and context-dependent factors on the species composition and general character of the herb layer was studied in detail. An experiment was established to study seed and safe-site limitation of nine forest herb species.

Genomes provide windows into the evolutionary histories of species. The recent accessibility of genome-scale data in non-model organisms and the proliferation of powerful statistical models are now providing unprecedented opportunities to uncover evolutionary relationships and to test hypotheses about the processes that generate and maintain biodiversity. This dissertation work reveals shallow-scale species boundaries and population genetic structure in two imperiled groups of salamanders and demonstrates that the number and information content of genomic regions used in species delimitation exert strong effects on the resulting inferences. Genome scans are employed to test hypotheses about the mechanisms of genetic sex determination in cryptobranchid salamanders, suggesting a conserved system of female heterogamety in this group. At much deeper scales, phylogenetic analyses of hundreds of protein-coding genes across all major amphibian lineages are employed to reveal the backbone topology and evolutionary timescales of the amphibian tree of life, suggesting a new set of hypotheses for relationships among extant amphibians. Yet, genomic data on their own are no panacea for the thorniest questions in evolutionary biology, and this work also demonstrates the power of a model testing framework to dissect support for different phylogenetic and population genetic hypotheses across different regions of the genome.

AsymmeTree is a flexible and easy-to-use Python package for the simulation of gene family histories. It simulates species trees and considers the joint action of gene duplication, loss, conversion, and horizontal transfer to evolve gene families along the species tree. To generate realistic scenarios, evolution rate heterogeneity from various sources is modeled. Finally, nucleotide or amino acid sequences (optionally with indels, among-site rate heterogeneity, and invariant sites) can be simulated along the gene phylogenies. For all steps, users can choose from a spectrum of alternative methods and parameters. These choices include most options that are commonly used in comparable tools but also some that are usually not found, such as the innovation model for species evolution. While output files for each individual step can be generated, AsymmeTree is primarily intended to be integrated in complex Python pipelines designed to assess the performance of data analysis methods. It allows the user to interact with, analyze, and possibly manipulate the simulated scenarios. AsymmeTree is freely available on GitHub.

Phylogenetics is the research of ancestor-descendant relationships among different groups of organisms, for example, species or populations of interest. The datasets involved are usually sequence alignments of various subsets of taxa for various genes. A major task of phylogenetics is often to combine estimated gene trees from many loci sampled from the genes into an overall estimate species tree topology. Eventually, one can construct the tree of life that depicts the ancestor-descendant relationships for all known species around the world. If there is missing data or incomplete sampling in the datasets, then supertree methods can be used to assemble gene trees with different subsets of taxa into an estimated overall species tree topology. In this study, we assume that gene tree discordance is solely due to incomplete lineage sorting under the multispecies coalescent model (Degnan and Rosenberg, 2009). If there is missing data or incomplete sampling in the datasets, then supertree methods can be used to assemble gene trees with different subsets of taxa into an estimated species tree topology. In addition, we examine the performance of the most commonly used supertree method (Wilkinson et al., 2009), namely matrix representation with parsimony (MRP), to explore its statistical properties in this setting. In particular, we show that MRP is not statistically consistent. That is, an estimated species tree topology other than the true species tree topology is more likely to be returned by MRP as the number of gene trees increases. For some situations, using longer branch lengths, randomly deleting taxa or even introducing mutation can improve the performance of MRP so that the matching species tree topology is recovered more often. In conclusion, MRP is a supertree method that is able to handle large amounts of conflict in the input gene trees. However, MRP is not statistically consistent, when using gene trees arise from the multispecies coalescent model to estimate species trees.

Les gènes, qui servent à encoder les fonctions biologiques des êtres vivants, forment l'unité moléculaire de base de l'hérédité. Afin d'expliquer la diversité des espèces que l'on peut observer aujourd'hui, il est essentiel de comprendre comment les gènes évoluent. Pour ce faire, on doit recréer le passé en inférant leur phylogénie, c'est-à-dire un arbre de gènes qui représente les liens de parenté des régions codantes des vivants. Les méthodes classiques d'inférence phylogénétique ont été élaborées principalement pour construire des arbres d'espèces et ne se basent que sur les séquences d'ADN. Les gènes sont toutefois riches en information, et on commence à peine à voir apparaître des méthodes de reconstruction qui utilisent leurs propriétés spécifiques. Notamment, l'histoire d'une famille de gènes en terme de duplications et de pertes, obtenue par la réconciliation d'un arbre de gènes avec un arbre d'espèces, peut nous permettre de détecter des faiblesses au sein d'un arbre et de l'améliorer. Dans cette thèse, la réconciliation est appliquée à la construction et la correction d'arbres de gènes sous trois angles différents: 1) Nous abordons la problématique de résoudre un arbre de gènes non-binaire. En particulier, nous présentons un algorithme en temps linéaire qui résout une polytomie en se basant sur la réconciliation. 2) Nous proposons une nouvelle approche de correction d'arbres de gènes par les relations d'orthologie et paralogie. Des algorithmes en temps polynomial sont présentés pour les problèmes suivants: corriger un arbre de gènes afin qu'il contienne un ensemble d'orthologues donné, et valider un ensemble de relations partielles d'orthologie et paralogie. 3) Nous montrons comment la réconciliation peut servir à "combiner'' plusieurs arbres de gènes. Plus précisément, nous étudions le problème de choisir un superarbre de gènes selon son coût de réconciliation. / Genes encode the biological functions of all living organisms and are the basic molecular units of heredity. In order to explain the diversity of species that can be observed today, it is essential to understand how genes evolve. To do this, the past has to be recreated by inferring their phylogeny, i.e. a gene tree depicting the parental relationships between the coding regions of living beings. Traditional phylogenetic inference methods have been developed primarily to construct species trees and are solely based on DNA sequences. Genes, however, are rich in information and only a few known reconstruction methods make usage of their specific properties. In particular, the history of a gene family in terms of duplications and losses, obtained by the reconciliation of a gene tree with a tree species, may allow us to detect weaknesses in a tree and improve it. In this thesis, reconciliation is applied to the construction and correction of gene trees from three different angles: 1) We address the problem of resolving a non-binary gene tree. In particular, we present a linear time algorithm that solves a polytomy based on reconciliation. 2) We propose a new gene tree correction approach based on orthology and paralogy relations. Polynomial-time algorithms are presented for the following problems: modify a gene tree so that it contains a given set of orthologous genes, and validate a set of partial orthology and paralogy relations. 3) We show how reconciliation can be used to "combine'' multiple gene trees. Specifically, we study the problem of choosing a gene supertree based on its reconciliation cost.

Our understanding of microbial evolution is largely dependent on available genomic data of diverse organisms. Yet, genome-sequencing efforts have mostly ignored the diverse uncultivable majority in favor of cultivable and sociologically relevant organisms. In this thesis, I have applied and developed cultivation independent methods to explore microbial diversity and obtain genomic data in an unbiased manner. The obtained genomes were then used to study the evolution of mitochondria, Rickettsiales and Haloarchaea. Metagenomic binning of oceanic samples recovered draft genomes for thirteen novel Alphaproteobacteria-related lineages. Phylogenomics analyses utilizing the improved taxon sample suggested that mitochondria are not related to Rickettsiales but rather evolved from a proteobacterial lineage closely related to all sampled alphaproteobacteria. Single-cell genomics and metagenomics of lake and oceanic samples, respectively, identified previously unobserved Rickettsiales-related lineages. They branched early relative to characterized Rickettsiales and encoded flagellar genes, a feature once thought absent in this order. Flagella are most likely an ancestral feature, and were independently lost during Rickettsiales diversification. In addition, preliminary analyses suggest that ATP/ADP translocase, the marker for energy parasitism, was acquired after the acquisition of type IV secretion systems during the emergence of the Rickettsiales. Further exploration of the oceanic samples yielded the first draft genomes of Marine Group IV archaea, the closest known relatives of the Haloarchaea. The halophilic and generally aerobic Haloarchaea are thought to have evolved from an anaerobic methanogenic ancestor. The MG-IV genomes allowed us to study this enigmatic evolutionary transition. Preliminary ancestral reconstruction analyses suggest a gradual loss of methanogenesis and adaptation to an aerobic lifestyle, respectively. The thesis further presents a new amplicon sequencing method that captures near full-length 16S and 23S rRNA genes of environmental prokaryotes. The method exploits PacBio's long read technology and the frequent proximity of these genes in prokaryotic genomes. Compared to traditional partial 16S amplicon sequencing, our method classifies environmental lineages that are distantly related to reference taxa more confidently. In conclusion, this thesis provides new insights into the origins of mitochondria, Rickettsiales and Haloarchaea and illustrates the power of cultivation independent methods with respect to the study of microbial evolution.