L’objectif de ce projet est de réaliser l’étude d’écologie moléculaire, non pas d’une espèce isolée, mais d’un groupe fonctionnel. Dans l’écosystème forestier africain, certaines espèces sont caractéristiques de la forêt, d’autres de la savane, et ont connu des phases d’expansion et de régression au cours des changements climatiques du quaternaire. Leur génome a-t-il enregistré un signal commun de l’histoire démographique qui en a résulté ? J’ai travaillé sur 9 espèces du genre Zaprionus (Drosophilidae). J’ai obtenu pour six d’entre elles un jeu de données complet comprenant deux échantillonnages populationnels N=20 (15 dans un cas) pour 10 gènes nucléaires et un gène mitochondrial. J’ai cherché la trace d’expansions démographiques en utilisant le DT de Tajima, le FS de Fu, la distribution mismatch. Avec les horloges moléculaires disponibles, l’histoire démographique de chaque espèce a été explorée par des méthodes bayésiennes sous BEAST (ADN mitochondrial) ou dans un modèle avec recombinaison utilisant FastSimCoal (ADN nucléaire). Cinq espèces d’affinités forestières présentent la signature d’une expansion de population. C’est le cas de Z. aff. proximus, Z. davidi, Z. sepsoides, Z. taronus et Z. vittiger. Une sixième espèce, Z. indianus, semble avoir une histoire démographique plus complexe ce qui serait compatible avec son écologie savanicole. Les délais imposés par la lourdeur des outils numériques disponibles ont limité à ce stade l’exploitation complète de ces données. En conclusion, le génome de toutes les espèces, de savane ou de forêt, porte la signature des changements climatiques passés. Ceci valide les prémisses de notre approche d’une "génomique des écosystèmes". / The aim of this project was to carry out a molecular ecology study, not only on a single species, but on a whole functional group. In the africain forest ecosystem, some species are typical of the forest while others are typical of the savanna, and have undergone stages of expansion and regression during Quaternary climate changes. Do their genomes share a common signature of the ensuing demographic history? I worked on nine species from the Zaprionus genus (Drosophilidae). For six species, I was able to gather a complete dataset including two population samples of N=20 (15 in one case) for 10 nuclear genes and one mitochondrial gene. I investigated the signature of population expansion by using Tajima’s DT, Fu’s FS, and the mismatch distribution. The demographic history of each species was investigated using Bayesian methods including BEAST (for mtDNA) and a recombination model using FastSimCoal (for nuclear DNA), with available molecular clocks. Five forest-dwelling species show the signature of a population expansion: Z. aff. proximus, Z. davidi, Z. sepsoides, Z. taronus et Z. vittiger. A sixth species, Z. indianus, shows a more complex history in agreement with its dependence on savanna. The completion of the analysis of the whole dataset was precluded by the time-consuming numerical procedures involved. To conclude, the genome of all of these species – either form savanna of from the forest – shows the signature of past climatic changes, thus validating an "ecosystem genomics" approach.

This thesis investigates a range of genealogical approaches to making quantitative inferences about the spatial and demographic history of populations with application to two insect systems: A local radiation of high alpine ground beetles (Carabidae) in the genus Trechus and major refugial populations of the oak gall parasitoid Cecidostiba fungosa (Pteromalidae). i) Summary statistics, which make explicit use of genealogical information are developed. Using simulations their power to detect a history of population growth is shown to be higher than that of standard measures such as Tajima’s D for single and multilocus data. The improvement arises from the fact that in contrast to pairwise measures, the new statistics are minimally confounded with the topology. ii) A Bayesian method to reconstructing character states is used to infer the Pleistocene history of populations of high alpine Trechus sampled along a singlemountain range frommitochondrial and nuclear data. Despite evidence for some incomplete lineage sorting, a simple model of a series of extreme founder events out of two refugia during or before the last glacial maximum provides a good fit to the data. iii) A large set of exon-primed, intron-spanning (EPIC) loci is developed for Hymenoptera from EST and genomic data. Amplification success is screened on a range of Hymenopteran species associated with two insect-plant interactions: Oak galls and figs. iv) Borrowing model-based approaches developed to quantify species divergence, the new EPIC loci are used to investigate the relationships between three major European refugia in the oak gall parasitoid C. fungosa. These analyses reveal strong support for an eastern origin, effective ancestral population sizes comparable to insect model species and evidence for recent population divergence during the last interglacial. The results also suggest that there is significant information in minimal samples provided a large number of loci are available. v) Results for the probability of gene tree topologies are derived for a model of divergence with gene flow between three populations. I outline how the asymmetries in the frequency of gene tree topologies may be used to distinguish incomplete lineage sorting from migration and discuss the results in the context of next generation sequence data from D. melanogaster and humans and Neanderthals.

Gene flow and hybridization are pervasive in nature, and can lead to different evolutionary outcomes. They can either accelerate divergence and promote speciation or reverse differentiation. The process of divergence and speciation are strongly influenced by both neutral and selective forces. Disentangling the interplay between these processes in natural systems is important for understanding the general importance of interspecific gene flow in generating novel biodiversity in plants. This thesis first examines the importance of introgressive hybridization in the evolution of the genus Pinus as a whole, and then focusing on specific pine species, investigates the role of geographical, environmental and demographical factors in driving divergence and adaptation. By examining the distribution of cytoplasmic DNA variation across the wide biogeographic range of the genus Pinus, I revealed historical introgression and mtDNA capture events in several groups of different pine species. This finding suggests that introgressive hybridization was common during past species’ range contractions and expansions and thus has played an important role in the evolution of the genus. To understand the cause and process of hybrid speciation, I focused on the significant case of hybrid speciation in Pinus densata. I established the hybridization, colonization and differentiation processes that defined the origin of this species. I found P. densata originated via multiple hybridization events in the late Miocene. The direction and intensity of introgression with two parental species varied among geographic regions of this species. During the colonization on Tibetan Plateau from the ancestral hybrid zone, consecutive bottlenecks and surfing of rare alleles caused a significant reduction in genetic diversity and strong population differentiation. Divergence within P. densata started from the late Pliocene onwards, induced by regional topographic changes and Pleistocene glaciations. To address the role of neutral and selective forces on genetic divergence, I examined the association of ecological and geographical distance with genetic distance in Pinus yunnanensis populations. I found both neutral and selective forces have contributed to population structure and differentiation in P. yunnanensis, but their relative contributions varied across the complex landscape. Finally, I evaluated genetic diversity in the Vietnamese endemic Pinus krempfii. I found extremely low genetic diversity in this species, which is explained by a small ancestral population, short-term population expansion and recent population decline and habitat fragmentation. These findings highlight the role of hybridization in generating novel genetic diversity and the different mechanisms driving divergence and adaptation in the genus Pinus.

We investigated the population dynamics of the giant water bug, Belostoma angustum, across highland sin the Pampas of southern Brazil. We evaluated genetic and morphological variation, as well as the demographic history of 18 populations. The overall range includes two highlands and a lowland between them, overall exceeding 400 kilometers along the longitudinal gradient. Genetic variation was assessed from mitochondrial and nuclear markers. The morphological variation was estimated using linear measurements of males and females, and from male genitalic structures using geometric morphometrics approaches. We evaluated the effect of the highland topography, drainage basins, and past climate changes on the population structure. Our results from multiple analyses of molecular variance (AMOVA) show that Belostoma angustum structures as a large panmictic population across the Pampas highlands range. Every most frequent haplotype is shared by individuals from all three sampled areas in genetic markers from the mitochondrial as well as from the nuclear locus. Differentiation among haplotypes was very low, not greater than two mutation steps. The congruent phylogeographical pattern in both markers indicate absent sex-biased migration rates. Furthermore, there was no evidence for isolation-by-distance (IBD) based on the mitochondrial data. The pairwise st was low and not significant, indicating historical gene flow among populations of the giant water bug studied throughout Pampas highlands. Our findings about the demographic history of panmictic population throughout Pampas highlands suggest it experienced recent and rapid population expansion that started in the Late Pleistocene period, approximately 15,000 years old after Last Glacial Maximum. The recent marked demographic expansion could explain the high percentage of the exclusive haplotypes and the very low mutational steps among them. We did not find morphological variation among populations of B. angustum throughout Pampas highlands reflected, except for some body dimensions. The overall phenotypic uniformity among populations becomes more likely if gene flow is hypothesized to homogenize populations. However, in the body size, specially, there was variation among populations potentially explained by phenotypic plasticity, thereby generating phenotypic diversity without genetic differentiation. Our genetic findings suggest indirectly that individuals of B. angustum are strong fliers able to overcome the topographical barriers of the sampled area. / Neste trabalho, investigamos a dinâmica populacional de uma barata d\' água, Belostoma angustum, ao longo do Pampa no sul do Brasil. Foram avaliadas a variação genética, morfológica e a história demográfica de 18 populações. A área total amostrada inclui duas serranias e uma planície entre elas, excedendo 400 quilômetros ao longo de um gradiente longitudinal. A variação genética foi avaliada a partir de marcadores mitocondriais e nucleares. A variação morfológica foi avaliada utilizando medidas lineares de machos e fêmeas, e de estruturas genitais masculinas usando abordagens de morfometria geométrica. Testamos o efeito da topografia das serranias, das bacias de drenagem e das mudanças climáticas passadas sobre a estrutura das populações. Os resultados de múltiplas análises de variância molecular (AMOVA) mostram que Belostoma angustum forma uma grande população panmítica ao longo das serranias do Pampa. Todos os haplótipos mais frequentes são compartilhados por indivíduos de todas as três grandes áreas amostradas em marcadores genéticos dos loci mitocondrial e nuclear. A diferenciação entre haplótipos foi muito baixa, não excedendo dois passos mutacionais. O padrão filogeográfico congruente em ambos os marcadores indica taxas de migração não enviesada para um dos sexos. Além disso, não encontramos evidência de isolamento por distância (IBD) com base nos dados mitocondriais. Os valores de st par a par foram baixos e não significativos, indicando fluxo gênico histórico entre as populações da barata d\'água estudada ao longo das serranias Pampianas. Os resultados sobre a história demográfica da população panmítica ao longo do planalto do Pampa sugerem que essa população experimentou uma expansão populacional recente e rápida que teve início no fim do período Pleistoceno (há aproximadamente 15.000 anos), após a última máxima glacial. A expansão demográfica recente e acentuada poderia explicar a alta porcentagem de haplótipos exclusivos e o número reduzido de passos mutacionais entre eles. Não encontramos variação morfológica entre as populações de B. angustum amostradas ao longo das serranias do Pampa, exceto em algumas dimensões corporais. A uniformidade fenotípica entre as populações torna-se mais provável na medida em que o fluxo de genes atue homogeneizando as populações. Entretanto, no caso do tamanho do corpo, especialmente, há variação entre populações potencialmente explicada por plasticidade fenotípica, gerando assim diferenciação fenotípica sem diferenciação genética. Nossos resultados genéticos sugerem indiretamente que os indivíduos de B. angustum possuem capacidade de voo suficiente para transpor as barreiras topográficas na área amostrada.

A associação não aleatória entre alelos de diferentes lócus caracteriza o que é chamado de desequilíbrio de ligação (DL) entre eles. A extensão do DL nas populações humanas pode ser influenciada por muitos fatores, tais como taxa de recombinação, características demográficas (idade, tamanho e taxa de crescimento) e fatores evolutivos (deriva genética, efeito fundador, gargalos populacionais, mutação, seleção e fluxo gênico). Portanto, o conhecimento dos padrões do DL fornecem dados que auxiliam na descrição dos eventos demográficos e evolutivos sofridos pelas populações. O objetivo deste estudo foi descrever os padrões de DL de quatro populações brasileiras e correlacioná-los com suas respectivas histórias demográficas, uma vez que estas populações experimentaram alguns dos eventos evolutivos que geram ou retardam o decréscimo do DL, como fundação por poucos indivíduos, miscigenação no momento da fundação e posterior isolamento. Foram analisadas amostras de três populações remanescentes de quilombos do Estado do Piauí, Gaucinha (GAU, n = 14), Mimbó (MIB, n = 15) e Sítio Velho (STV, n = 15) e da população urbana de Teresina, Piauí (TES, n = 15), além de sete amostras populacionais do projeto HapMap (CEU, CHB, JPT, ASW, LWK, MKK, YRI, todas com n = 15). Foram genotipados mais de 250 mil SNPs (Single Nucleotide Polymorphisms) utilizando-se o GeneChip® Human Mapping 250K Nsp I Array - Affymetrix® nas amostras das quatro populações brasileiras. Os dados brutos das populações do HapMap para este array foram obtidos na página do projeto. Os genótipos para todas as amostras foram determinados pelo algoritmo CRLMM após comparação com o algoritmo BRLMM, e as análises de DL e determinação dos blocos de haplótipos foram realizadas com o uso do programa Haploview. Considerando-se o número de blocos de haplótipos detectados em cada população estudada, padrão semelhante foi observado em todos os autossomos. Em geral, a população europeia (CEU) e as duas populações asiáticas (CHB e JPT) do HapMap apresentaram os maiores números de blocos, enquanto que os menores números foram observados nos quilombos GAU e MIB e na população TES. As populações africanas LWK, MKK e YRI e a população afro-americana ASW apresentaram os valores intermediários e a população afro-brasileira STV, apresentou um número de blocos apenas inferior a CEU, CHB e JPT. A grande contribuição africana nos quilombos GAU e MIB pode explicar o menor DL observado nestas comunidades. Por outro lado, o menor DL em TES se deve, provavelmente, à sua fundação, que envolveu um maior número de indivíduos e foi seguida por um rápido crescimento. A possível explicação para o maior DL observado em STV, em relação aos demais quilombos, consiste em sua peculiar história demográfica: esta comunidade experimentou uma miscigenação no momento de sua fundação, que foi seguida por um crescimento lento e pouca diferenciação. Assim, foi demonstrado como os eventos demográficos de cada população influenciam seus respectivos padrões de DL. / The non-random association between alleles of different loci characterizes what is called linkage disequilibrium (LD) between them. The LD extent in human populations can be influenced by many factors, such as recombination rate, demographic features (age, size and growth rate) and evolutionary events (genetic drift, founder effects, population bottlenecks, mutation, selection and gene flow). Therefore, knowledge of the LD patterns provides data that assists in describing the evolutionary and demographic events experienced by populations. The aim of this study was to describe the LD patterns of four Brazilian populations and correlate these patterns with their respective demographic histories, since these populations have experienced some of the evolutionary events that produce or retard the LD decrease, such as foundation by few individuals, admixture at the founding moment and subsequent isolation. Samples from three quilombo remnants populations of the Piauí State, Gaucinha (GAU, n = 14), Mimbó (MIB, n = 15) and Sítio Velho (STV, n = 15) and the urban population of Teresina, Piauí (TES, n = 15), and seven population samples from the HapMap Project (CEU, CHB, JPT, ASW, LWK, MKK, YRI, all with n = 15) were analyzed. More than 250 thousand SNPs (Single Nucleotide Polymorphisms) were genotyped using the GeneChip ® Human Mapping 250K Nsp Array I - Affymetrix ® in the samples of the four Brazilian populations. Raw data of the HapMap population samples for this array were obtained from the HapMap homepage. Genotypes for all samples were determined by CRLMM algorithm after comparison with the BRLMM algorithm. LD analyzes and determination of haplotype blocks were performed using the Haploview software. Considering the number of haplotype blocks detected in each population, a consistent pattern was observed for all autosomes. The European population (CEU) and the two Asian populations (CHB and JPT) of the HapMap showed the highest numbers of blocks, while the lowest numbers were observed in the GAU and MIB quilombos and in the TES population. The African populations, LWK, MKK and YRI, and the African-American ASW exhibited intermediate values and the African-Brazilian population STV, presented a number of blocks smaller than that observed for CEU, CHB and JPT. The great African contribution in the GAU and MIB quilombos may explain the lower LD observed in these communities. On the other hand, the lower LD in TES is probably due to its foundation that involved a larger number of individuals and was followed by a fast growth. A possible explanation for the higher LD observed in STV, compared to other quilombos, consists in its particular demographic history: this community experienced admixture at the time of its foundation, which was followed by slow growth and low differentiation. Thus, it was shown how the demographic events of each population influence their respective LD patterns.

Les patrons de structuration des espèces animales à fine et à large échelles peuvent être façonnés par des facteurs environnementaux et des traits comportementaux individuels. Les objectifs de cette thèse combinant des approches sociales, génétiques, isotopiques et morphométriques sont de décrire et comprendre i) les structures sociale, écologique et génétique de la population de grands dauphins du golfe Normand-Breton (NB) et ii) la structure de population de l'espèce à l'échelle de l'Atlantique Nord-Est (ANE). Les grands dauphins du golfe NB forment une unique population génétique qui est composée de trois ensembles sociaux et écologiques distincts. Les associations entre individus semblent être influencées par l'écologie et non par les liens de parenté. La structure génétique du grand dauphin à l'échelle de l'ANE est hiérarchique, avec deux écotypes, l'un côtier et l'autre pélagique, qui sont chacun divisé en deux populations. Les populations côtières sont issues d'une population pélagique et auraient colonisé les habitats côtiers libérés lors de la dernière déglaciation, ce qui a permis la diversification de l'espèce. Cette structure semble maintenue par les spécialisations écologiques et le comportement social des individus. Par ailleurs, l'origine pélagique des grands dauphins du golfe NB pourrait expliquer certains de leurs traits sociaux. Pour conclure, les patrons de structuration à fine et à large échelles de ce prédateur supérieur semblent influencés par les comportements sociaux et écologiques, les conditions environnementales présentes et passées ainsi que par son histoire évolutive. L'absence de différences morphologiques marquées entre les deux écotypes pourrait s'expliquer par leur divergence relativement récente ou par un faible contraste entre les habitats pélagiques et côtiers dans l'ANE. Ce travail souligne l'intérêt de combiner de multiples approches à différentes échelles temporelles et spatiales pour comprendre la structure sociale et la structure de population d'espèces mobiles et cryptiques. Ces résultats ont également des implications majeures pour la conservation, en particulier pour la définition d'unités de gestion. / Complex interactions between environmental factors and behavioral traits may shape the fine and large scale structuring patterns of animal species. The objectives of this dissertation were to describe and understand i) the fine-scale social, ecological and genetic structures of bottlenose dolphins in the Normano-Breton (NB) gulf and ii) the population structure of the species at the scale of the North-East Atlantic (NEA) by combining social, genetic, stable isotope and morphometric approaches. Coastal bottlenose dolphins in the NB gulf form a single genetic population subdivided in three social and ecological clusters. Ecology but not kinship may influence association patterns. In the NEA, bottlenose dolphin genetic structure is hierarchical. They form two ecotypes, i.e. coastal and pelagic, each of them being further divided in two populations. This genetic structure was likely triggered by past changes in the environment (i.e. deglaciation) that created ecological opportunities for diversification. Ecological specializations and social behavior may maintain genetic divergence. In turn, the pelagic origin of bottlenose dolphins in the NB gulf may explain some of their social structure traits. Thus, an interaction between social and ecological behaviors, current and past environmental conditions, and evolutionary history may drive the fine and large scale structuring patterns of this top predator. The absence of strong differences in morphology between the two ecotypes may be explained by their relatively recent divergence or by low contrasts between the pelagic and coastal habitats in the NEA. This work highlights the power of combining approaches at different temporal and spatial scales for assessing the social and population structures of highly mobile and difficult to access species. The results have also major conservation implications especially for the designation of management units.

Abstract Demographic history and selection affect patterns of genetic diversity in nature. Timing of growth, reproduction and dormancy are important traits targeted by natural selection, because they are crucial for survival of plants growing in boreal and temperate climates, as reproduction must occur when conditions are favorable and in outcrossing plants it must be synchronized to assure pollination. In addition to adaptation to local environments, evolutionarily diverged populations may contain genomic incompatibilities that result in sterile hybrids in crosses between populations. In several plant families within population crosses can also lead to male sterile progeny, because of conflict between maternally and bi-parentally inherited genomes. In this thesis I used DNA-sequence data to estimate the demographic history of nine Arabidopsis lyrata populations and present genetic variation in some key flowering time genes, evolution of which natural selection has shaped. By crossing experiments I explored genetics of reproductive fitness in hybrids between divergent populations. I found that local climatic conditions have resulted in directional selection in addition to the demographic effects of bottlenecks during colonization events. Flowering time genes have reduced diversity compared to reference loci, which indicates selective sweeps. Selection on nucleotide variation in flowering time genes was found in Scandinavian and Icelandic populations that can be explained by selective sweeps at flowering genes when these populations colonized northern habitats after the last glacial maximum. Cryptic cytoplasmic male sterility was found in a Norwegian population, for which North Carolinian population did not have fertility restorers. It was confirmed that there is only one fertility restorer locus, the genomic location of which was mapped to a 600 kb interval at the top of chromosome two. / Tiivistelmä Populaatioiden levittäytymishistoria ja luonnonvalinta vaikuttavat geneettiseen monimuotoisuuteen ja sen vaihteluun genomin eri osissa. Kukkimisen ja kasvun päättämisen ajoitus ovat tärkeitä luonnonvalinnan kohteena olevia ominaisuuksia, sillä ne ovat välttämättömiä kasvien selviytymiselle lauhkeissa ja pohjoisissa ilmastoissa. Paikallisiin olosuhteisiin sopeutumisen lisäksi populaatioiden erilaistuminen voi johtaa genomisiin yhteensopimattomuuksiin, joiden vuoksi populaatioiden väliset risteymät ovat lisääntymiskyvyttömiä. Monilla kasvisuvuilla myös populaation sisäiset risteytykset voivat johtaa koirassteriileihin jälkeläisiin johtuen konfliktista vain äidin puolelta ja molemmilta vanhemmilta periytyvien genomien välillä. Tässä väitöskirjassa selvitän DNA-sekvenssimuunteluun perustuen yhdeksän idänpitkäpalkopopulaation demografista eli levittäymis- ja populaatiorakennehistoriaa sekä luonnonvalinnan osuutta kukkimisaikaan vaikuttavien geenien evoluutiossa. Risteytyskokeiden avulla tutkin erilaistuneiden populaatioiden risteymäjälkeläisiä selvittääkseni niiden lisääntymiskelpoisuutta ja siihen vaikuttavia geenejä. Geneettinen muuntelu kukkimisgeeneissä oli vähäisempää kuin vertailugeeneissä, joka on merkki kukkimisgeeneihin kohdistuneesta suuntaavasta valinnasta. Kukkimisgeeneihin kohdistuvaa valintaa löytyi eniten skandinaavisista ja islantilaisesta populaatiosta, mikä on selitettävissä niihin kohdistuneella suuntavalla valinnalla aikana, jolloin kasvit levittäytyivät jääkauden jälkeen pohjoisiin elinympäristöihin. Norjalaisesta populaatiosta löytyi piilevä sytoplasminen koirassteriliteetti, jolle Pohjois-Carolinan populaatiolla ei ollut hedelmällisyyden palauttavia geenejä. Tutkimus vahvisti, että hedelmällisyyden palauttaa yksi geeni, joka sijaitsee 600 000 emäsparin kokoisella alueella kromosomin kaksi alkupäässä.

Abstract The timing growth and reproduction are critical to the fitness of plants and animals. The timing also has an important role in local adaptation. Locally adapted plants may have different responses to photoperiod and other environmental cues and genes or alleles behind underlying differences may differ between populations. The molecular genetics and physiology of flowering of the plant molecular biology model organism Arabidopsis thaliana is being intensively studied, and this offers a good opportunity to study the genetic basis of flowering time variation in related non-model species. The closely related perennial species Arabidopsis lyrata provides an interesting comparison to A. thaliana because of its different ecology, mating system and life history. The influence of sampling designs on clustering methods was analyzed using simulations and microsatellite data in the selfing A. thaliana. It was found that sample size has a large effect on the resulting number of clusters and sampling too few individuals per locality could lead to a severe underestimation of the real number of subpopulations. Patterns of sequence variation in flowering time genes and association between polymorphisms at FRI (and FLC) and flowering time was studied in A. thaliana and in A. lyrata to find out whether the genes were responsible for flowering time differences between and within natural populations. In A. thaliana there was no significant association between polymorphisms at FLC and FRI and flowering time. In A. lyrata the FRI gene was polymorphic for an indel associated with flowering time variation within two Northern European populations, suggesting that the indel (or a linked polymorphism) was involved in flowering time variation. However, FRI did not explain the flowering time differences between A. lyrata populations, and other loci must be involved. Patterns of diversity and divergence at flowering time related loci were compared against a set of random reference loci to examine the roles of selection and demography. Sequence variation in the studied A. lyrata populations departed from the standard neutral equilibrium model and it has been influenced by recent historical events, most likely bottlenecks. The level of silent and synonymous polymorphisms in flowering time genes was highly reduced and this can be likely explained by selective sweeps at flowering time genes. / Tiivistelmä Kasveilla kukkimisen ajoittaminen suotuisaan ajankohtaan on hyvin tärkeää suvullisen lisääntymisen kannalta. Kukkimisen oikealla ajoituksella on myös tärkeä rooli kasvien sopeutumisessa paikallisiin olosuhteisiin. Kukkimisaikamuunteluun vaikuttavat useimmiten lukuisat geenit sekä ympäristötekijät, jotka voivat vaihdella alueellisesti ja populaatioiden välillä. Vaikka kukkimiseen ja kukkimisaikaan vaikuttavia tekijöitä tunnetaan jo hyvin, luonnonpopulaatioiden muuntelun ja paikallisen sopeutumisen geneettinen tausta on huonommin tunnettu. Väitöstutkimus keskittyy Arabidopsis-populaatioiden paikalliseen sopeutumiseen tarkastelemalla kukkimisajan muuntelua ja siihen vaikuttavia geeneettisiä tekijöitä. Tutkimuksessa käytetyt geneettiset aineistot perustuvat osin neutraaleihin merkkigeeneihin (mikrosatelliittimuunteluun), ja osin sekvenssien nukleotidimuunteluun. Väitöstutkimuksessa on simulointien avulla selvitetty populaatiosta analysoitavien yksilöiden lukumäärän merkitystä populaatiorakenteen selvittämisessä itsesiittoisella lituruoholla (Arabidopsis thaliana). Tulosten mukaan on hyvä analysoida useampia yksilöitä paikallisista populaatioista, sillä liian pienet otoskoot voivat johtaa ryhmien määrän aliarvioimiseen. Koalesenssisimulaatiot osoittavat idänpitkäpalon (Arabidopsis lyrata) populaatioiden poikkeavan tasapainotilasta ja populaatioissa tapahtuneen populaatiokoon muutoksia (ns. pullonkaulailmiö). Tutkimuksessa havaittiin sekvenssimuuntelun olevan alhaisempaa kukkimisaikageeneissä kuin referenssigeeneissä todennäköisesti positiivisen valinnan vaikutuksesta. Tutkimuksessa todettiin, että FRI geenissä tapahtuneet mutaatiot ovat kahdessa tutkitussa lajissa erilaisia luonteeltaan, mutta geenillä on kuitenkin samanlainen rooli kukkimisajan määräämisessä. Assosiaatiokokeissa lituruoholla ei Pohjois-Euroopan populaatioissa löydetty merkitsevää assosiaatiota FRI geenin ja kukkimisajan välillä, kun puolestaa idänpitkäpalolla FRI vaikutti kukkimisaikamuunteluun kahdessa pohjoisessa populaatiossa.

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.

La diversité génétique d’une population porte en elle la trace de pratiques culturelles et est un témoignage de certains éléments passés. Ainsi, la langue, qui peut agir comme une barrière culturelle à la reproduction, et le système de parenté, qui va déterminer quand, où et avec qui les individus se reproduisent, vont influencer la diversité génétique. L’objectif de cette thèse est de tenter de retracer les histoires démographiques de populations d’Asie du Sud et du Sud-Est, à plusieurs échelles culturelles, de la famille linguistique Austro-Asiatique aux groupes de filiation en utilisant des données génétiques. Dans un premier temps, nous nous sommes intéressés à la famille linguistique Austro-Asiatique. Les langues appartenant à une même famille linguistique descendent d’une même langue « mère » et nous avons voulu savoir si en plus de cette parenté linguistique, les locuteurs de ces langues partageaient une parenté génétique. Nous avons étudié la diversité génétique autosomale de populations parlant des langues Austro-Asiatiques et nous les avons comparées à des populations voisines appartenant à d’autres familles linguistiques. Nous n’avons pas pu mettre en évidence de parenté génétique particulière entre les populations parlant des langues Austro-Asiatiques. Ces résultats excluent l’hypothèse d’une origine commune des populations parlant des langues Austro-Asiatique et favorisent l’hypothèse d’une diffusion culturelle des langues Austro-Asiatiques. Puis, nous avons étudié la parenté génétique au sein de groupes de descendance dans huit populations d’Asie du Sud-Est. Les individus appartenant au même groupe de filiation disent descendre d’un même ancêtre commun, paternel dans les populations patrilinéaires ou maternel dans les populations matrilinéaires. Nous avons voulu savoir si l’ancêtre commun de ces populations est mythique ou biologique. Nous nous sommes intéressés aux diversités génétiques du chromosome Y et de l’ADN mitochondrial de huit populations d’Asie du Sud-Est : quatre populations matrilinéaires et quatre populations patrilinéaires. Nos données montrent que des individus appartenant à un même clan matrilinéaire sont fortement apparentés génétiquement au niveau de leur lignée maternelle, visible au niveau de leur ADN mitochondrial. A l’inverse, les individus appartenant à un même clan patrilinéaire ne sont pas plus apparentés génétiquement entre eux que deux individus pris au hasard dans la population au niveau de leur lignée paternelle, visible au niveau du chromosome Y. Ces résultats témoignent de réalités différentes entre les populations patrilinéaires et matrilinéaires d’Asie du Sud-Est avec un ancêtre commun réel dans les populations matrilinéaires et un ancêtre commun mythique dans les clans patrilinéaires. Pris ensemble, ces travaux rappellent la manière dont différents processus culturels ont laissé des signatures génétiques sur les diversités génétiques uniparentales et autosomales et illustrent la manière dont le généticien des populations peut utiliser ces diversités génétiques pour retracer l’histoire démographique des populations. / The genetic diversity of a population carries with it traces of cultural practices and is a testimony of certain past events. Thus, language, which can be a cultural barrier to reproduction, and the kinship system, which will determine when, where and with whom individuals reproduce, will influence genetic diversity. The aim of this PhD thesis is to try to retrace the demographic histories of populations of South and Southeast Asia, at several cultural scales, from the Austroasiatic language family to descent groups using the genetic data. Firstly, we studied in the Austroasiatic language family. Languages belonging to the same linguistic family come from the same "mother" language and we wanted to know whether, in addition to this linguistic kinship, the speakers of these languages shared a genetic kinship. We have studied the autosomal genetic diversity of Austroasiatic speaking populations and compared them to neighboring populations belonging to other linguistic families. We could not highlight any particular genetic kinship between populations speaking Austroasiatic languages. These results exclude the hypothesis of a common origin of populations speaking Austroasiatic languages and favor the hypothesis of a cultural diffusion of Austroasiatic languages. Then, we investigated genetic kinship in descent groups in eight Southeast Asian populations. Individuals belonging to the same descent group claim to descend from a common paternal ancestor, in patrilineal populations, or from a common maternal ancestor, in matrilineal populations. We wanted to know if the common ancestor of these populations is mythical or biological. We investigated the genetic diversities of the Y chromosome and mitochondrial DNA of eight populations in Southeast Asia: four matrilineal populations and four patrilineal populations. Our data showed that individuals belonging to the same matrilineal clan are closely genetically related to their maternal line, visible in their mitochondrial DNA. Conversely, individuals belonging to the same patrilineal clan are no more genetically related to each other than two individuals randomly selected from the population in their paternal line, visible on the Y chromosome. These results reflect different realities between the patrilineal and matrilineal populations of Southeast Asia with a real common ancestor in matrilineal populations and a mythical common ancestor in the patrilineal clans. Together, these results showed how different cultural processes have left genetic signatures on uniparental and autosomal genetic diversities and illustrated how the population geneticist can use these genetic diversities to trace the populations' demographic history.