From an ecological perspective, knowledge of demographic history is highly valuable because population size fluctuations can be matched to known climatic events, thereby revealing great insight into a species’ reaction to past climate change. This in turn enables us to predict how they might respond to future climate scenarios. Prominently, with the advent of high-throughput sequencing it is now becoming possible to assemble genomes of non-model organisms thereby providing unprecedented resolution to the study of demographic history and speciation. This thesis utilises four species of grouse (Aves, subfamily Tetraoninae) in order to explore the demographic history and speciation within this lineage; the willow grouse, red grouse, rock ptarmigan and the black grouse. I, and my co-authors, begin by reviewing the plethora of methods used to estimate contemporary effective population size (Ne) and demographic history that are available to animal conservation practitioners. We find that their underlying assumptions and necessary input data can bias in their application, and thus we provide a summary of their applicability. I then use the whole genomes of the black grouse, willow grouse and rock ptarmigan to infer their population dynamics within the last million years. I find three dominant periods that shape their demographic history: early Pleistocene cooling (3-0.9 Mya), the mid-Brunhes event (430 kya) and the last glacial period (110-10 kya). I also find strong signals of local population history – recolonization and subdivision events – affecting their demography. In the subsequent study, I explore the grouse dynamics within the last glacial period in more detail by including more distant samples and using ecological modelling to track habitat distribution changes. I further uncover strong signals of local population history, with multiple fringe populations undergoing severe bottlenecks. I also determine that future climate change is expected to drastically constrict the distribution of the studied grouse. Lastly, I use whole genome sequencing to uncover 6 highly differentiated regions, containing 7 genes, hinting at their role in adaptation and speciation in three grouse taxa. I also locate a region of low differentiation, containing the Agouti pigmentation gene, indicating its role in the grouse plumage coloration.

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A obtenção de genótipos superiores no melhoramento de plantas depende da existência de variabilidade genética. A existência de coleções de germoplasma representativas e a utilização de um tamanho adequado de amostra são fundamentais para a preservação das frequências alélicas e genotípicas, diminuindo a perda de variabilidade genética e postergando o aparecimento dos efeitos da deriva genética. Assim, teve-se como objetivo avaliar os efeitos da deriva genética em caracteres quantitativos em subpopulações de milho. Este estudo foi realizado a partir das populações originais BR-105 e BR-106, das quais 10 subpopulações foram obtidas em cada um dos cinco ciclos sucessivos de amostragem com tamanho efetivo reduzido, totalizando 50 subpopulações para cada população original, as quais foram posteriormente autofecundadas, gerando um nível a mais de endogamia. Os tratamentos foram constituídos de 10 amostras da população original sem autofecundação, 10 amostras com autofecundação, 50 subpopulações obtidas da população original e 50 subpopulações autofecundadas, totalizando 120 tratamentos para cada população, avaliados separadamente. Utilizou-se o delineamento em blocos casualizados no esquema de parcelas subdivididas em faixas hierárquico, em quatro ambientes com duas repetições por ambiente. Os caracteres avaliados foram produção de grãos (PG), prolificidade (PROL), comprimento e diâmetro de espigas (CE e DE), número de fileiras por espiga (NFE), número de grãos por fileira (NGF), altura de planta e espiga (AP e AE), florescimento masculino e feminino (FM e FF) e número de ramificações do pendão (NRP). Foram estimados os efeitos da deriva genética entre as médias das subpopulações nos dois níveis de endogamia e os efeitos da depressão por endogamia nas subpopulações dentro dos ciclos. Posteriormente, realizaram-se análises de regressão linear para as subpopulações nos dois níveis de endogamia, separadamente, e em conjunto. Foi verificada uma grande variação nas médias das subpopulações ao longo dos ciclos, indicando que a deriva genética causou diferenciação entre as mesmas e que estas se diferenciaram das populações originais. Detectaram-se efeitos significativos da deriva genética nas populações não autofecundadas para todos os caracteres avaliados, em maior número para PG, já que este caráter é mais sensível à deriva genética por possuir maior grau de dominância que os demais. Houve diminuição no número de estimativas de deriva significativas para as populações autofecundadas, incluindo mudanças na magnitude e no sinal das mesmas em relação às populações não autofecundadas. Para as estimativas de depressão por endogamia, os caracteres PG, NGF, FM e FF apresentaram maior quantidade de estimativas significativas que os demais. Para a maioria dos caracteres, a regressão linear explicou a maior parte da variação encontrada com o aumento dos coeficientes de endogamia. As populações BR-105 e BR-106, por terem estruturas genéticas distintas, apresentaram performances diferentes quanto aos efeitos da deriva genética. Enfim, como a deriva genética interfere na integridade genética das populações, torna-se importante considerar seus efeitos na coleta e manutenção dos bancos de germoplasma e nas populações utilizadas no melhoramento genético de plantas. / Obtaining superior genotypes in plant breeding depends on the existence of genetic variability. The existence of representative germplasm collections and the use of appropriate sample size are essential for preserving allelic and genotypic frequencies, reducing loss of genetic variability and delaying genetic drift effects. This study aimed to evaluate the effects of genetic drift in quantitative traits in subpopulations of maize. The original populations used were BR-105 and BR-106, of which 10 subpopulations were obtained in each five successive sample cycles with reduced effective size, accounting 50 subpopulations for each original population that were subsequently selfed to generate an additional level of inbreeding. The treatments consisted in 10 samples of the original population, 10 samples of the selfed original population, 50 non selfed subpopulations obtained from the original population and 50 selfed subpopulations, accounting 120 treatments for each population evaluated separately. It was used the randomized block strip-plot design, in four environments with two replications. The traits assessed were grain yield (GY), prolificacy (PROL), ear length and ear diameter (EL and ED), number of rows per ear (NRE), kernel-row number (KRN), plant and ear height (PH and EH), days to anthesis and silking (DA and DS), and number of tassel branches (NTB). It was estimated the effects of genetic drift between subpopulations means at both inbreeding levels, and the effect of the inbreeding depression in subpopulations within cycles. It was also performed linear regression analysis for subpopulations at both levels of inbreeding separately and together. A large variation was observed in the subpopulations means over cycles, indicating that genetic drift caused differentiation between them, and that they differed from the original populations. The effects of genetic drift were significant for all traits in the non selfed subpopulations, especially for GY, which is more sensitive to genetic drift effects by having a greater degree of dominance than the other traits. There was a decrease in the number of significant genetic drift estimates for selfed populations, including changes in magnitude and signs, compared to the non selfed populations. GY, KRN, DA and DS had higher number of significant inbreeding depression estimates than the other traits. Linear regression analysis explained most of the variation found with increasing homozygosity. As BR-105 and BR-106 populations have distinct genetic structures, they showed different performances regarding the effects of genetic drift. Therefore, genetic drift interferes in the genetic integrity of populations and it is important to consider its effect on the collection and maintenance of germplasm banks and populations used in plant breeding.

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The objectives of this thesis relate to questions needed to be addressed in the context of genetic monitoring for implementing the Convention on Biological Diversity for the gene level. Genetic monitoring is quantifying temporal changes in population genetic metrics. Specific goals of this thesis include i) synthesizing existing information relevant to genetic monitoring of Swedish species, ii) providing a genetic baseline for the Swedish moose, iii) evaluating the relative performance of nuclear versus organelle genetic markers for detecting population divergence, iv) actually monitoring the genetic composition, structure, level of variation, and effective population size (Ne) and assessing the relation between Ne and the actual number of individuals for an unexploited brown trout population. The concept of conservation genetic monitoring is defined and Swedish priority species for such monitoring are identified; they include highly exploited organisms such as moose, salmonid fishes, Norway spruce, Atlantic cod, and Atlantic herring. Results indicate that the Swedish moose might be more genetically divergent than previously anticipated and appears to be divided into at least three different subpopulations, representing a southern, a central, and a northern population. The relative efficiency of nuclear and organelle markers depends on the relationship between the degree of genetic differentiation at the two types of markers. In turn, this relates to how far the divergence process has progressed. For the monitored brown trout population no indication of systematic change of population structure or allele frequencies was observed over 30 years. Significant genetic drift was found, though, translating into an overall Ne-estimate of ~75. The actual number of adult fish (NC) was assessed as ~600, corresponding to an Ne/NC ratio of 0.13. In spite of the relatively small effective population size monitoring did not reveal loss of genetic variation.

Habitat fragmentation can have an impact on a wide variety of biological processes including abundance, life history strategies, mating system, inbreeding and genetic diversity levels of individual species. Although fragmented populations have received much attention, ecological and genetic responses of species to fragmentation have still not been fully resolved. The current study investigated the ecological factors that may influence the demographic and genetic structure of the giant white-tailed rat (Uromys caudimaculatus) within fragmented tropical rainforests. It is the first study to examine relationships between food resources, vegetation attributes and Uromys demography in a quantitative manner. Giant white-tailed rat densities were strongly correlated with specific suites of food resources rather than forest structure or other factors linked to fragmentation (i.e. fragment size). Several demographic parameters including the density of resident adults and juvenile recruitment showed similar patterns. Although data were limited, high quality food resources appear to initiate breeding in female Uromys. Where data were sufficient, influx of juveniles was significantly related to the density of high quality food resources that had fallen in the previous three months. Thus, availability of high quality food resources appear to be more important than either vegetation structure or fragment size in influencing giant white-tailed rat demography. These results support the suggestion that a species’ response to fragmentation can be related to their specific habitat requirements and can vary in response to local ecological conditions. In contrast to demographic data, genetic data revealed a significant negative effect of habitat fragmentation on genetic diversity and effective population size in U. caudimaculatus. All three fragments showed lower levels of allelic richness, number of private alleles and expected heterozygosity compared with the unfragmented continuous rainforest site. Populations at all sites were significantly differentiated, suggesting restricted among population gene flow. The combined effects of reduced genetic diversity, lower effective population size and restricted gene flow suggest that long-term viability of small fragmented populations may be at risk, unless effective management is employed in the future. A diverse range of genetic reproductive behaviours and sex-biased dispersal patterns were evident within U. caudimaculatus populations. Genetic paternity analyses revealed that the major mating system in U. caudimaculatus appeared to be polygyny at sites P1, P3 and C1. Evidence of genetic monogamy, however, was also found in the three fragmented sites, and was the dominant mating system in the remaining low density, small fragment (P2). High variability in reproductive skew and reproductive success was also found but was less pronounced when only resident Uromys were considered. Male body condition predicted which males sired offspring, however, neither body condition nor heterozygosity levels were accurate predictors of the number of offspring assigned to individual males or females. Genetic spatial autocorrelation analyses provided evidence for increased philopatry among females at site P1, but increased philopatry among males at site P3. This suggests that male-biased dispersal occurs at site P1 and female-biased dispersal at site P3, implying that in addition to mating systems, Uromys may also be able to adjust their dispersal behaviour to suit local ecological conditions. This study highlights the importance of examining the mechanisms that underlie population-level responses to habitat fragmentation using a combined ecological and genetic approach. The ecological data suggested that habitat quality (i.e. high quality food resources) rather than habitat quantity (i.e. fragment size) was relatively more important in influencing giant white-tailed rat demographics, at least for the populations studied here . Conversely, genetic data showed strong evidence that Uromys populations were affected adversely by habitat fragmentation and that management of isolated populations may be required for long-term viability of populations within isolated rainforest fragments.

Orientador: Alexandre Magno Sebbenn / Banca: Mario Luiz Teixeira de Moraes / Banca: Ananda Virgínia de Aguiar / Resumo: O fluxo e padrões de dispersão de pólen foram investigados em um pequeno fragmento florestal isolado da espécie arbórea neotropical, polinizada por insetos da Copaifera langsdorffii, por meio da análise de paternidade e oito locos microssatélites, também foi investigado a coancestria e o tamanho efetivo populacional dentro de progênies para a conservação e recuperação ambiental. Sementes de polinização aberta (20 a 25 sementes) foram coletadas de 15 árvores matrizes de um fragmento, onde todos os indivíduos adultos foram previamente mapeados, medidos e genotipados para oito locos microssatélites. Vinte sementes foram coletadas da árvore vizinha mais próxima (1,2 km) do fragmento. Os níveis de diversidade genética foram significativamente maiores nos adultos do que nas progênies. Níveis significativos de endogamia foram detectados em progênies (F = 0,226), o que foi atribuído principalmente ao cruzamento entre parentes. A partir da análise de paternidade, baixos níveis de autofecundação (s = 8%) e imigração de pólen (m = 8%) foram observados no fragmento florestal, mas níveis muito altos foram detectados na árvore isolada (s = 20%; m = 75%), indicando que o fragmento e a árvore não estão reprodutivamente isolados e são conectados por dispersão de pólen a longas distancias (máximo detectado 1,420 m). Dentro do fragmento, o padrão de dispersão de pólen foi o vizinho próximo, com cerca de 49% do pólen se dispersando até 50 m. O tamanho efetivo populacional da árvore-matriz foi baixa, indicando a necessidade de se coletar muitas sementes de árvores (mínimo de 76 árvores) para fins de conservação. Em termos gerais, os resultados mostraram que o fragmento e a árvore isolada pela fragmentação florestal não estão reprodutivamente isoladas, embora o isolamento espacial parecesse aumentar a taxa de autofecundação e cruzamentos correlacionados / Abstract: Pollen flow, dispersal and patterns were investigated in a small and isolated forest fragment of the neotropical, insect pollinated tree Copaifera langsdorffii, using paternity analysis and eight microsatellite loci, we also investigated the coancestry and effective population size of progeny array for conservation and environmental restoration purpose. Open-pollinated seeds (20 to 25 seeds) were collected from 15 seed trees of forest fragment, where all adults trees were previously mapped, measured and genotyped by eight microsatellite loci. Twenty seeds were also collected from the neighbour tree (1.2 km) of the forest fragment. Levels of genetic diversity were significantly higher in adults than offspring. Significant levels of inbreeding were detected in offspring (F=0.226), which was attributed mainly to the mating among relatives. From paternity analysis, low levels of selfing (s=8%) and pollen immigration (m=8%) were observed in the forest fragment, but very high levels were detected in the isolated tree (s=20%; m=75%), indicating that the forest fragment and the tree are not reproductive isolated and are connected by long pollen dispersal (maximum detected 1,420 m). Within the forest fragment, the pattern of pollen dispersal was the near neighbor with about 49% of the pollen being dispersed until 50 m. The effective population size of the progeny array was low, indicating the necessity to collect seeds from many seed trees (minimum of 76 trees) for conservation purposes. In general terms, the results showed that the fragment and the tree isolated by forest fragment are not brooked the genetic connectivity, although the spatial isolation seems increase selfing rate and correlated mating / Mestre

L'élucidation des liens réciproques unissant le génotype et le phénotype constitue un objectif central de la biologie moderne. De nombreux aspects de l'évolution à l'échelle moléculaire sont ainsi connus pour répondre aux caractéristiques démographiques ou d'histoire de vie des espèces. En particulier, la théorie quasi-neutre postule que les petites populations accumulent davantage de substitutions faiblement délétères dans leur génome, en raison d'une dérive génétique accrue. La composition en bases, à travers le mécanisme de la conversion génique biaisée, s'est également révélée obéir à l'influence de paramètres macroscopiques. Cependant, l'élaboration et la vérification empirique de ces théories se sont bien souvent fondées sur une gamme limitée de groupes d'organismes, incluant principalement les mammifères. Dans cette thèse, sur la base de l'étude comparative de plusieurs dizaines de transcriptomes, nous avons étendu à l'échelle des amniotes la compréhension des déterminants des patrons moléculaires observés. Grâce à l'analyse simultanée des principaux clades de reptiles, oiseaux et mammifères, nous avons pu confirmer et généraliser le rôle majeur de la taille efficace des populations sur la capacité des espèces à purger les changements d'amino-acide désavantageux, tout en exhibant un comportement inattendu du ratio dN/dS chez les oiseaux – soulevant au passage une énigme stimulante. La conversion génique biaisée est apparue comme le principal moteur de l'évolution du taux de GC des séquences codantes chez les vertébrés, y compris chez les reptiles et les poissons, dont la composition génomique homogène en avait masqué l'action. En parallèle, l'exploitation des relations entre traits d'histoire de vie et paramètres moléculaires nous a permis de réaliser de nouvelles avancées concernant l'objectif de reconstruction des masses ancestrales, pour lequel nous nous sommes focalisés sur l'ordre des cétartiodactyles, qui se caractérise aujourd'hui par une majorité de grosses espèces (comme le chameau, la girafe ou les cétacés). L'analyse combinée du marqueur mitochondrial, encore jamais testé, et des marqueurs nucléaires, incluant une vingtaine de transcriptomes nouvellement séquencés, a témoigné en faveur du résultat singulier d'un ancêtre cétartiodactyle de petite taille, comme suggéré par la paléontologie, démontrant ainsi le potentiel prometteur des données de séquence à dévoiler le passé des organismes. / Understanding the reciprocal influence between genotype and phenotype has been a long-standing goal of modern biology. Many aspects of evolution at the molecular level are well known to respond to demographic or life history characteristics of species. In particular, the nearly-neutral theory postulates that small populations accumulate a heavier load of slightly deleterious substitutions in their genome as a result of increased genetic drift. Base composition has also been shown to reflect the influence of macroscopic parameters through the mechanism of GC-biased gene conversion. However, the development and empirical validation of these theories are mostly based on a restricted diversity of organisms, in which mammals stand as a major contributor. In this thesis, using a comparative approach and tens of transcriptomes, we aimed at extending to Amniota our understanding of the determinants of molecular evolutionary patterns. With the incorporation of all clades of reptiles, we confirmed the major role of the effective population size on species ability to purge deleterious amino-acid changes, while revealing a paradoxical response of the dN/dS ratio in birds, raising a stimulating enigma. The biased gene conversion also emerged as the main driver of coding sequence GC content in vertebrates, including reptiles and fishes, whose genomic homogeneity had kept its signal hidden for long. In parallel, the relations between life-history traits and molecular parameters have enabled us to investigate and make progress in the field of ancestral body mass reconstruction. We focused on the Cetartiodactyla order, a group which is mainly characterized by large extant species (such as camel, giraffe or whales). The combined analysis of the yet untested mitochondrial marker and nuclear genes, including 21 newly sequenced transcriptomes, testified in favor of the singular result of a small cetartiodactyl ancestor, in agreement with the palaeontological record, demonstrating the strong potential of DNA sequences to reveal the past of organisms.

Les rivières en tresses sont des grandes rivières alluviales de piémont montagneux à forte dynamique spatio-temporelle et à géomorphologie particulière. Leur cours traverse alternativement de vastes plaines et des rétrécissements de vallées ou canyons. Cette géomorphologie influence fortement les échanges d’eau entre la rivière avec sa nappe souterraine et sur l’épaisseur sédimentaire. Les échanges d’eau entre la rivière et sa nappe se produisent à différentes échelles allant de la vallée jusqu’à des bancs de graviers et peuvent créer des filtres biotiques et abiotiques qui influencent les communautés d’invertébrés. Les canyons créent des zones de moindre épaisseur sédimentaire voire d’absence de sédiments et peuvent représenter de fortes barrières à la dispersion pour des organismes inféodés au milieu sédimentaire souterrain. Ce travail de thèse a cherché à évaluer dans quelle mesure la géomorphologie pouvait donc structurer les communautés d’invertébrés de surface et souterraines et pouvait jouer sur la dispersion d’un organisme souterrain Proasellus walteri. Les différents résultats obtenus ont permis de montrer que la géomorphologie structurait les communautés d’invertébrés en mettant en évidence une forte réponse des communautés souterraines mais pas de surface et créait des zones de forte biodiversité à l’aval des plaines. Les résultats de cette étude ont également permis de conclure sur un effet positif de la géomorphologie des rivières en tresses sur la structuration génétique de P. walteri et de mettre en évidence de grandes tailles de populations ainsi que de fortes capacités de dispersion, permettant d’écarter certaines idées reçues sur le milieu souterrain / Braided rivers are large alluvial rivers found in piedmont mountainous areas. These rivers are very dynamic systems in space and time and exhibit particular geomorphology. The river flows alternatively into large alluvial plains or narrowing parts (also defined as canyons). This geomorphology impacts groundwater-surface water exchanges and sedimentary thickness. Groundwater-surface water exchanges occur at different scales, then interacting to shape biotic and abiotic filters for invertebrate communities. Canyons can reduce sedimentary continuity or interrupt it and may represent strong barriers to dispersal for sedimentary-dwelling organisms. This present work aimed at evaluating the effects of geomorphology in invertebrate community structure and as a potential barrier to dispersal in the subterranean organism Proasellus walteri. The different results obtained have shown that geomorphology structured invertebrate communities, highlighting a strong response in groundwater communities but not in surface communities and have shown that downstream parts of alluvial plains were hotspots of biodiversity. The results of this study also concluded on a positive effect of geomorphology in braided rivers on the genetic structure of P. walteri and underlined large effective population size and high dispersal ability, then removing some misconceptions about subterranean environment

Cette thèse porte sur deux espèces de grands requins, le requin bouledogue Carcharhinus leucas et le requin tigre Galeocerdo cuvier. Les objectifs sont d'étudier la structure génétique de leurs populations, la taille efficace des populations identifiées et les modes de reproduction de ces deux espèces. Une différenciation génétique importante a été identifiée entre les populations de requin bouledogue de l'Ouest de l'océan Indien et de l'Ouest du Pacifique, reflétant soit une absence de flux de gènes contemporains, soit des flux de gènes uniquement assurés par les mâles. À l'inverse, les populations de requin tigre de ces deux régions sont homogènes génétiquement. Une plus faible diversité génétique a été identifiée chez le requin tigre que chez le requin bouledogue, peut-être liée à une diminution forte des effectifs datant de moins de 3 000 ans. Autour de La Réunion, les populations des requins bouledogue et tigre suivent des dynamiques différentes, liées à leurs modes de reproduction. Chez le requin bouledogue, les individus semblent fidèles à des zones côtières particulières (philopatrie) pour s'accoupler et/ou mettre bas, et les portées sont fréquemment issues de plusieurs pères (polyandrie). À l'inverse, les zones d'accouplement et de mise bas du requin tigre restent mal connues, et cette espèce semble exclusivement monoandre, caractéristiques liées à sa nature semi-océanique. Ces travaux montrent les capacités de dispersion importantes de ces deux espèces. Leurs populations présentent des dynamiques différentes induisant une vulnérabilité différente aux pressions anthropiques. / This PhD thesis focuses on two large shark species, the bull shark Carcharhinus leucas and the tiger shark Galeocerdo cuvier. The aims are to study the genetic structuring of their populations, the effective population size of the delimited populations and the reproductive modes of both species. A strong genetic differentiation was highlighted between bull shark populations from the Western Indian Ocean and the Western Pacific, due to either an absence of contemporary gene flow or to an absence of female gene flow only. On the opposite, tiger shark populations seem genetically homogenous, with important genetic connectivity between both regions. Within each region, no genetic differentiation among localities was highlighted for both species. A weaker genetic diversity was identified for the tiger shark, probably linked to the occurrence of a recent bottleneck occurring less than 3,000 years ago. Around Reunion Island, bull and tiger shark populations present different dynamics, linked to their reproductive modes. Bull shark individuals from both sexes seem to exhibit some fidelity to specific coastal sites (philopatry) to mate and/or deliver embryos, and litters are frequently issued from several fathers (polyandry). On the opposite, mating and pupping areas of the tiger shark remain poorly known, and this species seems exclusively monoandrous, probably linked to its semi-oceanic nature.This work highlights the high dispersal abilities of both species. Their populations present different dynamics, leading to different sensitivities to anthropogenic pressures. These results point out the need to adopt management plans specific to each species