Three subspecies of house mice of different geographic origins have reached New Zealand; M. m. domesticus (10 haplotypes), M. m. musculus (1 haplotype) both from Europe, and M. m. castaneus (3 haplotypes) from Asia. Identifying the sources of the multiple historical introductions of the house mouse is a complex issue, particularly during the peak colonisation period of 1830-1880. The early European settlers came with many bags, crates, plants, seed and livestock, which provided ample travel opportunities for stowaway rats and mice. With the assistance of volunteers, I have collected mice from various locations throughout the New Zealand region, to confirm the previously recorded haplotypes and to look for evidence of hybridisation between the colonising subspecies. Morphological characteristics traditionally used for identification of subspecies were compared with genetic characters, to establish whether the use of morphology is still a viable method of identifying subspecific distinctions between mice in New Zealand. While no M. m. musculus haplotypes were found among these samples, some mice still had the coat colouration typical of M. m. musculus. Data from mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) markers revealed some surprising results. I have found six new M. m. domesticus haplotypes, and three new M. m. castaneus haplotypes. The data have also revealed extensive hybridisation, particularly between M. m. domesticus and M. m. castaneus. The finding of the new haplotypes supports the previous assumption that there were multiple introductions of mice into New Zealand, but the finding of M. m. castaneus in inland towns and cities does not support the associated assumption that European mice were initially the only mice present in New Zealand. Rather, the wide distribution of M. m. castaneus suggests that this subspecies probably arrived during the early nineteenth century. The house mouse has long been recognised as an ideal organism for hybridisation studies, and the finding of a hybrid zone within New Zealand would provide an excellent opportunity to extend our knowledge of hybridisation and gene transfer. Previous studies found M. m. domesticus in Napier, and a M. m. musculus/M. m. castaneus hybrids in Wellington. A systematic sampling programme was undertaken between Wellington and Napier following State Highway 2 (SH2), in an attempt to locate a hybrid zone. Analysis of mtDNA and nDNA showed that, M. m. castaneus was found as far North as Dannevirke, and M. m. domesticus as far South as Featherston. There was also extensive evidence of integration of M. m. domesticus nDNA markers into mice with M. m. castaneus mtDNA. There was no clear support for a hybrid zone, but this does not mean that one has not existed in the past and that it has since been overrun by movement of mice with humans and their goods. Identification of subspecies by morphological characteristics, while used with confidence in other countries, is of little use in New Zealand. Extensive hybridisation/and or introgression between the subspecies has long since blurred any morphological distinctions the colonising mice may have had. I propose that these physical characters should be used in support of genetic analysis of the subspecies. The official classification of the New Zealand house mouse currently stands as M. m. musculus, however, data collected does not support this and it is proposed that the official classification should be changed to M. m. domesticus.

The goal of my dissertation research is to elucidate the population structure of two understudied but increasingly important fungal pathogens of humans. Coccidioides immitis and C. posadasii cause the disease coccidioidomycosis (Valley fever). These fungi occur in the soil of the desert regions of North and South America. Although studied for over 100 years, the primary host, ecological niche, and sexual cycle of Coccidioides spp. still remain unknown. Understanding the population structure of these fungi will permit identification of fundamental aspects of their ecology and allow researchers to identify potential hosts. Assessing genotypic diversity of pathogens is one step to understanding the population structure and evolutionary potential of organisms, and is the focus of this dissertation. The first appendix focuses on developing and evaluating methods to obtain environmental samples, and comparison of genotypes found in soil vs. human patients. Direct inoculation of mice proved to be the most reliable method of obtaining environmental strains. Environmental isolates from Tucson group with Arizona patient isolates. Comparing genotypes of human, environmental and non-human host strains of Coccidioides may help to determine if gene flow occurs over long distances and provide some indication of the population structure of C. posadasii in the environment, and is the focus of the second appendix. Finally, whole-genome sequencing and resequencing has been completed for 20 strains of C. immitis and C. posadasii. The resulting data provide greater insight into variation between and within species. In particular, the final appendix provides evidence for hybridization and gene flow between species. Data show that a region of C. posadasii origin is found at a higher frequency among the C. immitis southern California and Mexico patient isolates, and is found rarely among patient isolates from the San Joaquin Valley. Of particular interest is the fact that there is a conserved border region for all instances of introgression, and the gene immediately adjacent to this border is a metalloproteinase gene. Together these studies provide insight into the population biology of two human pathogenic fungi: gene flow is limited between species and populations, but genetic exchange occurs at all levels.

Natural hybrid zones provide opportunities to study a range of evolutionary phenomena from speciation to the genetic basis of fitness-related traits. Additionally, investing the structure of hybrid zones can provide valuable insight in the ecology and evolution of species. The present dissertation approaches the investigation of natural hybrid zones between Xiphophorus birchmanni and X. malinche from a population genetics perspective. The goal of the chapters herein are to investigate the genetic structure of these natural hybrid zones overall and the genetic structure of the populations within them in an effort to better understand the factors producing and maintaining spatial genetic patterns among this species pair and their hybrids. Using informative single nucleotide polymorphisms (SNPs) in one mitochondrial and three nuclear intron loci, I show that hybrid zones occur in replicated fashion in multiple stream reaches along a gradient from high to low elevation. Tests of FIS and linkage disequilibrium (LD) revealed significant genetic structure within a small subset of populations. Specifically, parentals and hybrids all three occur in some locations while other locations appear to be hybrid swarms. I then investigated a behavioral mechanism of reproductive isolation - social association, which might affect population structure. In clean water, individuals shoaled significantly more closely with conspecifics. Additionally, genotyping of females and their embryos revealed signatures of non-random mating in structured populations. Taken together, assortative social grouping, which may translate to assortative female mate choice, likely plays a role in maintaining population structure. Finally, I show that fluctuating asymmetry is significantly higher in unstructured than structure populations. This is a further indication that some form of non-random mating occurs in structured populations and has effects on male phenotypes.

Universiẗat, Diss., 2001--Würzburg.

La question abordée est celle de la structure génétique des anchois Atlanto-méditerranéens analysée grâce à 6 locus microsatellites et un gène du cytochrome b de l'ADN mitochondrial sur un échantillonnage dont quatre en provenance de lagunes réparti entre la Tunisie, la France, la Mer Noire et le Maroc. Deux locus microsatellites parmi les six étudiés révèlent une forte différenciation liée à l'habitat lagunaire. L'étude du cytochrome b de l'ADN mitochondrial montre la présence de deux clades mitochondriaux trouvés en sympatrie en fréquence variable dans tous les échantillons. L'analyse combinée montre un déséquilibre nucléo-cytoplasmique significatif, confirmant l'existence d'incompatibilités génétiques partielles entre les deux entités. Ces deux entités génétiques doivent de ce fait être considérées comme des unités de gestion distinctes. / We study the genetic structure of Mediterranean anchovy by analyzing six microsatellite loci and the cytochrome b gene of mitochondrial DNA on anchovy populations with four lagoons, which are from Tunisia, Morocco, France and Black Sea. Two strongly differentiated loci and nucleo-cytoplasmic disequilibrium revealed a differentiation related to a lagoon habitat. The study of cytochrome b mitochondrial DNA showed the presence of two mitochondrial clades found on sympatric with variable frequency in all samples. By contrast, four microsatellites were undifferentiated within the entire set of samples, testifying to a variable permeability of the two interacting genomes. Our findings confirm the existence of partial genetic incompatibilities between the two entities that should then be considered as distinct from a conservation point of view.

Wolbachia est une bactérie endosymbiotique, intracellulaire et exclusivement transmise maternellement qui infecterait au moins 106 espèces d'insectes. Wolbachia manipule fréquemment la reproduction de ses hôte à son avantage, notamment en induisant une forme de stérilité conditionnelle appelée incompatibilité cytoplasmique (IC). Chez les moustiques du complexe Culex pipiens, une grande diversité de souches de Wolbachia et de types d'IC a été précédemment identifiée, mais plusieurs aspects de la biologie de cette association restaient peu connus. Les travaux présentés dans cette thèse ont notamment permis de caractériser (i) l'impact de Wolbachia sur la structuration génétique des populations hôtes et (ii) la diversité des souches de Wolbachia et, plus précisément d'appréhender le mécanisme de l'IC. Par un suivi de populations naturelles, nous avons mis en évidence que Wolbachia induisait une forte structuration de la diversité mitochondriale, mais aussi qu'elle participait à des événements répétés d'introgression cytoplasmique entre les différents membres du complexe Cx. pipiens. Nous avons également mené une étude de génomique comparative basée sur le séquençage de quatre génomes complets de Wolbachia très proches phylogénétiquement. Pour cela, nous avons mis en place une série d'analyses approfondies utilisant un large panel d'outils bioinformatiques couplés à des vérifications moléculaires. Nous avons montré qu'il existait peu de polymorphisme entre les groupes de Wolbachia infectant Cx. pipiens. De plus, ces études nous ont permis de mettre en évidence des gènes candidats qui pourraient être directement impliqués dans le mécanisme de l'IC. / Wolbachia is an intracellular bacterial symbiont, exclusively maternally inherited, infecting at least 106 species of insects. Wolbachia commonly manipulates insect reproduction to its own advantage, as well illustrated by a phenomenon of conditional sterility called cytoplasmic incompatibility (CI). In mosquitoes of Culex pipiens complex, a great diversity of Wolbachia strains and of CI types was previously identified, but several aspects of the biology of this symbiotic association remained unknown. The aim of the studies presented in this thesis is to characterize (i) the impact of Wolbachia on the host genetic structure and (ii) the Wolbachia strains diversity in order to attempt an identification of CI molecular basis. By a survey of natural populations, we highlighted that Wolbachia deeply impacts the population structure of mitochondrial diversity, but is also associated with repeated events of cytoplasmic introgression between members of complex Cx. pipiens. We also conducted a study of comparative genomics based on the sequencing of four complete genomes of very closely related Wolbachia strains. For that purpose, we performed a series of analyses using a wide panel of bioinformatic tools coupled with molecular validations. We showed a low polymorphism between two groups of Wolbachia infecting Cx. pipiens. These studies also allowed us to highlight promising candidate genes which could be directly involved in the CI mechanism.

L’hybridation interspécifique est un phénomène très étudié ces dernières années et les conséquences qui lui sont attribuées dans l’évolution des espèces sont diverses. Une littérature de plus en plus fournie met notamment en évidence le rôle que peut avoir l’hybridation sur l’émergence de nouveaux taxons. Mon travail de thèse s’attache à comprendre comment des croisements entre espèces peuvent impacter le processus de spéciation d’une nouvelle lignée évolutive et stimuler ainsi la diversification des organismes vivants.Une revue des différents cas d’espèces hybrides animales proposés dans la littérature a permis, dans la première partie de cette thèse, d’identifier les patrons associés de façon redondante au processus de spéciation hybride. Nous observons par exemple que, si l’apport premier de l’hybridation à la spéciation reste toujours la recombinaison de caractéristiques parentales divergentes, cela peut se traduire de manière différente lors de l’émergence de la lignée hybride. Cette synthèse a aussi été l’occasion de discuter des difficultés méthodologiques qui limitent une réelle estimation de la prévalence de ce phénomène dans l’évolution des espèces.Dans la seconde partie de ma thèse j’explore le processus de spéciation hybride chez un complexe d’espèces proches de papillons du genre Coenonympha. Je montre que, parmi les quatre lignées identifiées dans le complexe, deux sont issues de l’hybridation. Leurs caractéristiques génétiques, écologiques et morphologiques permettent de comprendre, en partie, comment leur phénotype recombinant a favorisé leur établissement en tant qu’espèces à part entière et leur isolement vis-à-vis de leurs espèces parentales.L’histoire évolutive de ces papillons est discutée en détail dans la dernière partie de mon travail de thèse. Les résultats obtenus pour ce cas particulier y sont confrontés aux autres exemples de spéciation hybride ainsi qu’aux attendus théoriques associés à ce phénomène. Les spécificités de ce système d’étude viennent ainsi enrichir les connaissances actuelles sur le processus de spéciation hybride et sur les impacts évolutifs de l’hybridation. / Interspecific hybridization is more and more studied these last years and its consequences on species evolution are diverse. The literature especially points out its potential impact on new species emergence and the number of hybrid speciation cases is increasing. My work aims at understanding how interspecific crosses can initiate the rise of a new hybrid lineage and stimulate the diversification of living organisms.Reviewing the examples of animals hybrid species described in the literature allows me, in the first part of this work, to identify the main patterns associated with the process of hybrid speciation. I observe in particular that, if the recombination of parental characteristics is always the main driver of hybrid speciation, it leads to various patterns in hybrid species establishment. I also discuss methodological issues concerning the identification of hybrid species, which limit our capacity to estimate the prevalence of such process in species evolution dynamic.In the second part of this work I investigate the process of hybrid speciation in a complex of closely related butterfly species of the genus Coenonympha. I show that among the four lineages composing the complex, two originated through hybridization events. Their genetic, ecological and morphological characteristics allow us to better understand how their recombinant phenotype led to their emergence and their isolation from parental species.The evolutionary history of these butterflies is discussed in detail in the last part of this work. The results obtained in this particular case are compared with other examples of hybrid species and with theoretical expectations from literature. This example adds its specificities to the current knowledges about hybrid speciation and evolutionary impacts of hybridization.

La truite commune Salmo trutta L. est l'espèce de salmonidés la plus rependue en Europe. Cette espèce présente une grande diversité phénotypique liée à son histoire évolutive complexe. Chaque année, d’intenses repeuplements ont lieu afin d’augmenter les densités locales de populations, notamment pour la pêche sportive. Des truites d’origine atlantique, domestiquées depuis des décennies, et plus récemment des souches domestiques méditerranéennes, sont largement utilisées pour repeupler les populations sauvages locales d’origine méditerranéenne dans le sud de la France. Jusqu’à présent, les conséquences des interactions génétiques, telles que l’hybridation et l’introgression d’allèles domestiques dans les populations locales résultants de ces repeuplements, étaient suivies à l’aide de marqueurs allozymes et microsatellites. Cependant, en raison de leurs nombres extrêmement réduits, ces marqueurs n’offraient qu’une représentation très partielle du génome. Ainsi, leur étude ne permet pas de rendre compte fidèlement des signatures génomiques associées aux pratiques de repeuplement, nécessaires pour comprendre les conséquences évolutives de l’introgression. L’objectif de cette thèse est donc d’étudier à l’échelle génomique les conséquences des interactions génétiques induites par l’introduction d’individus domestiques d’origines atlantique et méditerranéenne dans les populations ‘sauvages’ méditerranéennes du bassin de l’Orb. La première partie de cette thèse rend compte du développement d’environ 196000 marqueurs SNPs et d’une carte de liaison génétique haute densité chez S. trutta. Dans la deuxième partie, les outils moléculaires précédemment développés sont utilisés pour détecter à l’échelle individuelle les haplotypes introgressés et ainsi décrire le paysage génomique de l’introgression dans trois populations sauvages du bassin de l’Orb. La distribution de la taille de ces haplotypes est alors utilisée en prenant en compte les variations du taux local de recombinaison pour estimer l’âge moyen de l’introgression dans chaque population locale. Finalement, la troisième partie s’intéresse aux pressions sélectives - positives ou négatives - qui modulent le paysage génomique de l’introgression d’allèles domestiques dans les populations sauvages. Les résultats suggèrent que les conséquences de l’hybridation sur la valeur sélective des individus doivent être considérées séparément entre le court et le long terme. Ces travaux montrent que la compréhension des mécanismes évolutifs impliqués présente un intérêt majeur pour la conservation et la gestion des populations naturelles. / The brown trout Salmo trutta L. is the most widely distributed salmonid species in Europe. The species presents a high level of phenotypic diversity linked to its complex evolutionary history. An Atlantic hatchery lineage, which has been domesticated for decades, and more recently a domesticated Mediterranean strain, have been largely used for restocking and enhancement of wild Mediterranean populations in southern France, especially for recreational fishing. The impact of restocking practices on brown trout genetic diversity and population genetic structure has been extensively studied with allozyme and microsatellite markers. However, the small number of genetic markers used in these studies did not allow to get a genome-wide representation of introgression. The aim of this thesis was to assess the genome-wide impact of repeated introductions of Atlantic and Mediterranean domesticated strains into wild Mediterranean populations. First, a large number of SNP markers have been developed as well as a high density genetic map for S. trutta. Secondly, the molecular tools previously developed have been used to detect introgressed haplotypes and to provide a detailed picture of introgression frequency patterns across the genome of three wild populations from the Orb drainage. The length distribution of admixture tracts was used to determine the timing of introgression, taking variation in local recombination rate into account. Finally, this study focused on the positive or negative selective forces that modulate the genome-wide landscape of introgression. Our results suggest that the consequences of hybridization on individual fitness have to be considered separately over short and long timescales. This work shows that understanding the evolutionary consequences of stocking practices is of major interest for the conservation and management of natural populations.

L'évolution des organismes, des génomes et des gènes n'est pas strictement arborescente; les symbioses, les transferts horizontaux de gènes ou encore la fusion de gènes créent des objets composites formés de parties dont les histoires évolutives sont différentes. Ces processus non arborescents sont appelés introgressifs et ont un impact non négligeable en évolution. Ils sont à l'origine de transitions évolutives majeures comme l'émergence des eucaryotes, des eucaryotes photosynthétiques ou encore de nombreux groupes d'Archaea. Dans le cas des eucaryotes, l'association et la stabilisation d'une Archaea et d'une alpha-protéobactérie a permis l'émergence d'un nouveau groupe d'organismes composites aux propriétés émergentes. L'acquisition de la photosynthèse chez les eucaryotes s'est faite via l'endosymbiose d'une cyanobactérie et, bien que débattue, l'apparition des grands groupes d'Archaea semble être concomitante avec l'acquisition de nombreux gènes d'origine bactérienne. Ces superorganismes ont la particularité d'avoir des génomes composés de gènes de différents partenaires symbiotiques. L'objectif de mon travail de thèse a constitué à étudier l'aspect introgressif de l'évolution par des méthodes de réseaux de similarité de séquence et des méthodes phylogénétiques. Je me suis particulièrement focalisé sur la détection de nouveaux gènes chimériques nommés gènes symbiogénétiques (S-gènes) car composés de parties originaires des différents partenaires symbiotiques. De tels gènes existent dans les génomes et plusieurs règles d'association ont pu être mises en évidence. Plus généralement, la présence de S-gènes étend la notion de mosaïcisme génomique au niveau infra-génique. / Evolution of organisms, genomes and genes does not strictly follow a tree-like process; symbiosis, horizontal gene transfers and gene fusions build high level composite objects with components of phylogenetically distinct origins. Such processes have been called introgressive events and are significant in evolution. They are involved in some major evolutionary transitions such as eukaryogenesis, photosynthesis acquisition in eukaryotes and the origins of major archaeal clades. Eukaryogenesis would have involved (at least) two kinds of partners: an archaeon and an alpha-proteobacterium. Photosynthetic eukaryotes arose from the integration of a cyanobacterium into a eukaryotic cell and recent findings suggested that most archaeal lineages emerged after massive acquisitions of bacterial genes. These composite lineages carry highly chimeric genomes where genes from symbiotic partners co-localize into the same genome. During my PhD thesis, I used sequence similarity networks and phylogenetic methods in order to study reticulate evolution. My research specifically focused on a previously hidden component of composite genomes: symbiogenetic genes (S genes). These chimeric genes are found in genetic mergers, and originate from the association of genes of symbiotic partners. Some association rules have been discovered. In a broad perspective, the discovery of S-genes extends the concept of genome chimerism to the within-gene level.

Human populations evolved throughout the Old World for over 1 million years. However, anatomical characteristics of modern humans are thought to have evolved only in Africa in the last 200 thousand years. To this day, the extent to which archaic human populations contributed to the modern human gene pool is largely unknown. This work explores the evidence of genetic contribution from archaic populations at two loci in chromosome 12. Two different archaic humans, Neandertal and Denisova, living respectively in West Eurasia and in East Asia, have been indicated as potential contributors to anatomically modern human populations outside of Africa. This research shows the presence in non-Africans of two distinct introgressive alleles from archaic populations at the immune genes OAS1 and STAT2. In addition to the detection of patterns of genetic variation previously proposed as indicators of genetic introgression from archaic populations, it was possible to use the sequence of archaic individuals to infer a recent common ancestry between the introgressive modern allele and the archaic sequences. The analysis of genetic variation at the genomic region containing the gene STAT2 shows the presence of introgressive Neandertal-like and Denisova-like haplotypes. The elevated frequency in Melanesian populations of the haplotype introgressive from Neandertals suggests that this haplotype has been adaptive in Melanesians (APPENDIX B). A haplotype of the gene OAS1, nearly restricted to Melanesian populations, provides evidence of introgression from a population with genetic affinities to Denisova. The introgressive haplotype carries non-synonymous variants predicted to have functional significance and a block of very deep divergence with the remaining modern sequences (APPENDIX A). A second haplotype, observed mostly in Eurasian populations, shows evidence of having introgressed recently from Neandertals. The Neandertal-like haplotype also contains a block with very deep divergence with the remaining modern sequences (APPENDIX C). Blocks of very deep divergence within introgressive haplotypes suggest an important role of ancient population structure in the evolution of humans.