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.

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A thesis submitted to the school of graduate studies in the partial fulfillment of the requirements for the degree doctor of philosophy. / Fungal populations occupy a vast number of ecological niches across many geographic areas around the planet. Fungi act as essential nutrient recyclers, playing key roles as saprophytes, mutualists, and pathogens. As humans, we use these broad properties of fungi in biochemical and pharmaceutical industries, creating a plethora of products ranging from antimicrobials to food products. However, certain fungal species have become a devastating burden on human public health. Of these fungal species, my PhD thesis has focused on the critically important mold Aspergillus fumigatus. This mold is an opportunistic human pathogen, being the leading etiological cause of the spectrum of diseases termed aspergillosis that yearly affects over 8,000,000 people worldwide. In addition, the rising number of antifungal resistant strains around the world, especially within environmental populations, is of critical concern. Given that almost all aspergillosis infections result from environmental strains, and that soil is a major ecological niche for A. fumigatus, my thesis focused on characterizing genetic and phenotypic aspects of soil isolates of A. fumigatus obtained from many geographic and climatic regions around the world. My analyses revealed extensive allelic and genotypic diversity within and among populations. These A. fumigatus populations were defined by both historical differentiations, high gene flow, non-random recombination, and high susceptibility to triazole antifungals. Additionally, I tested the sexual fecundity of a subset of these global strains and found that geographic and genetic distance between the pairs of parental strains had little effect on sexual fecundity. Lastly, my research found broad variations in growth of a global sample of A. fumigatus strains at different temperatures. Again, no relationship of either geographic or genetic distance on strain growth was observed. Overall, my research highlights the extraordinary nature of A. fumigatus populations to quickly spread and adapt across diverse and complex environments. / Thesis / Doctor of Philosophy (PhD) / Aspergillus fumigatus is a cosmopolitan mold that causes opportunistic infections in humans termed aspergillosis. To better understand the environmental reservoirs of aspergillosis infection, I investigated soil populations of this fungus, as soil is likely the largest reservoir of A. fumigatus. I isolated A. fumigatus strains from 11 countries across 6 continents and genetically compared these soil populations to each other and to clinical A. fumigatus populations. I found extensive genetic diversity within most local soil populations, along with different relationships among geographic populations. When a sample of these global strains were sexually crossed, I uncovered high variation in their sexual fecundity, which lowered at higher geographic distances. Lastly, strains exhibited high variations in growth at different temperatures regardless of climatic, genetic, and geographic factors from where they were isolated. My thesis highlights the extraordinary phenotypic variations and complex population structure of A. fumigatus populations isolated from soil across the globe.

Made available in DSpace on 2014-12-17T14:33:03Z (GMT). No. of bitstreams: 1 LucianaLFL.pdf: 2263314 bytes, checksum: 031f7f356fbeb6a00725098fb2fbe8c6 (MD5) Previous issue date: 2009-08-28 / Coordena??o de Aperfei?oamento de Pessoal de N?vel Superior / Tropical environments often face strong seasonal variations in climate, such as alternate periods of dry and rain, that may often be important influence in the annual X the organisms lives. Here we assess how population dynamics of two butterfly species (Heliconius erato and Heliconius mepomene) respond to environmental and seasonal variations. A mark-release-recapture study carried out in an Atlantic forest reserve, 15 Km from Natal, Rio Grande do Norte, Brazil, for 3 years, during the dry and rainy season, with three visits weekly done. Information such as species, wing lenght, site of capture, pollen load and phenotype (number of spots) (in H. erato only) were noted for each capture. Seasonal variation exists in capture rates of the two species, with great capture rates during the rainy season. Despite finding differences in the mean density of individuals of the two species among the different collection areas, this difference was only significant between floodplain and central areas, and no influence of seasonality was observed in the mean density between the areas. Seasonality in wing size was only observed for H. erato, with larger wings during the rainy season. Females carried larger pollen loads than males both species, but species were similar. Only males differed seasonally, with larger pollen loads during the rainy season. The distribution of the number of wing spots did not vary between the dry and rainy seasons, and the number of spots in males and females was similar. Therefore, we conclude that there was a strong influence of seasonal variation in the population dynamic of the two Heliconius species, as well as in several aspects of their biology / Ambientes tropicais, assim como temperados, costumam se deparar com fortes varia??es sazonais em seus regimes clim?ticos, manifestadas atrav?s de per?odos alternados de seca e chuva, que podem ter pronunciada influ?ncia em diversos aspectos da vida dos organismos que neles habitam. O presente estudo teve como objetivo avaliar como a din?mica populacional de duas esp?cies de borboleta (Heliconius erato e Heliconius melpomene) responde ?s varia??es ambientais sazonais por elas enfrentadas. Um trabalho de marca??o e recaptura das esp?cies foi realizado em uma reserva de mata Atl?ntica localizada cerca de 15 km da cidade de Natal (RN), durante um per?odo de tr?s anos, nos meses mais secos e chuvosos do ano, com tr?s visitas semanais. Informa??es como esp?cie, comprimento alar, local de captura, idade, tamanho da carga pol?nica coletada e fen?tipo (n?mero de manchas na por??o ventral das asas anteriores) em H. erato foram obtidas para cada captura. Observou-se varia??o sazonal nas taxas de captura das duas esp?cies, com maior incid?ncia nos per?odos mais chuvosos, e baixa taxa de recaptura, principalmente nos per?odos mais secos. Apesar de encontrada diferen?a na densidade m?dia de indiv?duos das duas esp?cies entre as diferentes ?reas de coleta, esta foi significativa somente entre as ?reas de v?rzea e central, e n?o foi observada influ?ncia da sazonalidade na densidade m?dia entre as ?reas. O efeito da sazonalidade sobre o comprimento alar somente foi observado para H. erato, com indiv?duos coletados nos per?odos de chuva apresentando tamanhos superiores. F?meas coletaram maiores cargas pol?nicas do que machos nas duas esp?cies, mas n?o houve diferen?a quando comparadas as esp?cies entre si. Quando analisada a influ?ncia sazonal na obten??o de p?len, somente os machos apresentaram diverg?ncias entre as esta??es, com indiv?duos capturados nos per?odos mais chuvosos coletando maiores cargas pol?nicas. Quanto ? varia??o fenot?pica em H. erato, a distribui??o do n?mero de manchas n?o variou entre as esta??es seca e chuvosa, assim como n?o houve diferen?a no n?mero de manchas entre machos e f?meas. Podemos ent?o concluir que houve forte influ?ncia da varia??o sazonal na din?mica populacional das duas esp?cies de Heliconius, bem como em v?rios aspectos de sua biologia

Abstract Spatial and temporal variation is a universal feature in most organisms in nature, commonly reflecting the past evolutionary history of the species as well as the prevailing environmental conditions. The purpose of this doctoral thesis study was to investigate the genetic and phenotypic variation, and to assess the roles of the different processes affecting them in the moose (Alces alces). Altogether 809 DNA samples of moose, gathered throughout Finland and the Republic of Karelia in Russia, were analysed with a variety of population genetic methods. Furthermore, the shape of the moose mandible was investigated with the help of geometric morphometrics using a subset of samples gathered from 179 moose in Finland. This study showed that the Finnish and especially the Karelian moose population harboured relatively high genetic diversity, albeit with clear regional differences in its spatial distribution. In the northern half of Finland, a secondary contact of two diverged mitochondrial lineages was revealed. The presence of the two lineages was interpreted to reflect the existence of allopatric refugia of moose during the Last Glacial Maximum and the subsequent bi-directional recolonisation of Fennoscandia. Furthermore, a spatially explicit Bayesian clustering analysis suggested existence of three genetic clusters, which were estimated to have split after the post-glacial recolonisation. The results also showed that past declines in the moose numbers during the 18th and 19th centuries led to population bottlenecks, leaving a genetic imprint. Thus, the present moose population in eastern Fennoscandia carries the signs of both ancient and more recent events in its genetic composition. Finally, a significant latitudinal shift was revealed in the shape of the moose mandible. The pattern was considered independent of the genetic clustering of the population. The main changes included an enlargement of the attachment surfaces of the muscles controlling biting and mastication, implying more effective mastication in the north compared with the south, possibly an adaptive response to a longer period of hard wintertime diet. The results of this thesis encourage continuation of studies on the moose in order to fully reveal the impact of particular historical events and especially anthropogenic factors on the genetic and phenotypic variation of this species. They also provide the starting point for ‘genetically enlightened’ moose management and conservation in Finland. / Tiivistelmä Lähes kaikilla eliölajeilla esiintyy ajallista ja paikallista muuntelua, joka on seurausta lajin evolutiivisesta historiasta ja vallitsevista ympäristöoloista. Tässä väitöskirjatutkimuksessa tutkin hirven (Alces alces) geneettistä ja fenotyyppistä muuntelua sekä niitä selittäviä taustatekijöitä populaatiogeneettisillä ja geometrisen morfometrian menetelmillä. Geneettisen aineiston muodostivat Suomesta ja Venäjän Karjalasta kerätyt 809 hirven DNA-näytteet. Fenotyyppisenä ominaisuutena tutkittiin hirven leukaluun muotoa yhteensä 179 alaleuasta. Geneettinen monimuotoisuus oli tutkimuksen mukaan Suomen ja erityisesti Karjalan hirvipopulaatiossa verrattain korkea, joskin alueelliset erot olivat varsin selviä. Pohjoisesta Suomesta löytyi kahta erilaistunutta mitokondrion DNA:n sukulinjaa, joiden arvioin erilaistuneen viimeisen jääkauden aikana, todennäköisesti erillisissä refugioissa, ja saapuneen aikoinaan Suomeen eri reittejä pitkin. Tämän ohella tuman DNA paljasti lisää alueellisia rakenteita; bayesilainen ryhmittelyanalyysi havaitsi hirvellä kolme erillistä alapopulaatiota. Näiden ryhmien arvioin kehittyneen vasta Suomen uudelleenasuttamisen jälkeen. Tämän tutkimuksen tulokset osoittivat myös, että historiallisesti tunnetut kannanromahdukset 1700- ja 1800-luvuilla johtivat populaation pullonkaulaan, joka jätti jälkensä hirven perimään. Itäisen Fennoskandian hirvipopulaation geneettiseen muunteluun ovat siis vaikuttaneet sen historian aikana niin jääkauden aikaiset kuin tuoreemmatkin tapahtumat. Tämän lisäksi hirven alaleuan muodossa havaittiin merkitsevä etelä-pohjoissuuntainen muutos. Tulosten mukaan purentaa ohjaavien lihasten kiinnityspinnat laajenevat pohjoista kohti siirryttäessä, mikä viittaisi siihen, että hirven leukojen puruvoima on pohjoisessa suurempi kuin etelässä. Ilmiö oli riippumaton populaation geneettisestä ryhmittyneisyydestä, ja se on mahdollisesti seurausta kovemman talviruokavalion aiheuttamasta adaptiivisesta vasteesta. Tämän väitöskirjan tulokset rohkaisevat jatkamaan aiheen tutkimusta, jotta eri historiallisten tapahtumien sekä eritoten ihmisvaikutuksen merkitys lajin geneettiseen ja fenotyyppiseen muunteluun voitaisiin selvittää perin pohjin. Lisäksi tulokset muodostavat lähtökohdan ’geneettisesti valistuneelle’ hirvikannan hoidolle Suomessa.

The hand has the highest surface area-to-volume ratio of any body part. This property offers the potential for the hand to serve an important function in thermoregulation through radiative heat loss. Theoretically, the capacity for heat loss may be influenced by hand and digit proportions, but the extent to which these proportions influence the hand's radiative properties remains under-investigated. Although hand morphology is highly constrained by both integration and functional dexterity, phenotypic variation in hand and digit proportions across human populations shows broad ecogeographic patterns. These patterns have been associated with climate adaptation. However, the theory linking climate adaptation to such ecogeographic patterns is based on underlying assumptions relating to thermodynamic principles, which have not been tested in vivo. This study sought to determine the influence of hand and digit proportions on heat loss from the hands directly, the additional anthropometric factors that may affect this relationship, and the impact of variation in hand proportions on dexterity in the cold. The relationship between hand proportions and thermoregulation was tested through both laboratory-based investigation and a field study. The laboratory investigation assessed the relationship between hand proportions and heat loss, the influence of body size and composition on this relationship, and the effect of morphological variation on manual dexterity. Participants (N=114; 18-50 years of age), underwent a 3-minute ice-water hand-immersion. Thermal imaging analysis was used to quantify heat loss. Hand and digit proportions were quantified using 2D and 3D scanning techniques; body size and composition were measured using established anthropometric methods and bio-impedance analysis. After accounting for body size, hand width, digit-to-palm length ratio, and skeletal muscle mass were significant predictors of heat loss from the hand, whilsthand length and fat mass were not. A separate set of participants (N=40) performed a Purdue pegboard dexterity test before and after the immersion test, which demonstrated that digit width alone negatively correlated with dexterity. The field study tested whether phenotypic variation in upper limb proportions could be attributed to cold adaptation or selection for dexterity in living populations exposed to significant energetic stress. Upper limb segment lengths were obtained from participants (N=254; 18-59 years of age), from highland and lowland regions of the Nepalese Himalayas using established anthropometric methods, and relative hand proportions were assessed in relation to severe energetic stress associated with life at high altitude. Relative to height, hand length and hand width were not reduced with altitude stress, whilst ulna length was. This indicates that cold adaptation is not shaping hand proportions in this case, although phenotypic variation in other limb segments may be attributed to cold adaptation or a thrifty phenotype mechanism. The current study provides empirical evidence to support the link between surface area-to-volume ratio, thermodynamic principles and ecogeographical patterns in human hand morphology. However, this research also demonstrates the complexity of the hand's role in thermoregulation; not only do other factors such as muscularity affect heat loss from the hand, but hand morphology is also highly constrained by integration and dexterity.

<p>The goal of this thesis is to algorithmically identify candidate modifiers for <i>retinitis pigmentosa</i> (RP) to help improve therapy and predictions for this genetic disorder that may lead to a complete loss of vision. A current research by (Chow et al., 2016) focused on the genetic contributors to RP by trying to recognize a correlation between genetic modifiers and phenotypic variation in female <i>Drosophila melanogaster</i>, or fruit flies. In comparison to the genome-wide association analysis carried out in Chow et al.’s research, this study proposes using a K-Means clustering algorithm on RNA expression data to better understand which genes best exhibit characteristics of the RP degenerative model. Validating this algorithm’s effectiveness in identifying suspected genes takes priority over their classification.</p><p>This study investigates the linear relationship between <i>Drosophila </i>eye size and genetic expression to gather statistically significant, strongly correlated genes from the clusters with abnormally high or low eye sizes. The clustering algorithm is implemented in the R scripting language, and supplemental information details the steps of this computational process. Running the mean eye size and genetic expression data of 18,140 female <i>Drosophila</i> genes and 171 strains through the proposed algorithm in its four variations helped identify 140 suspected candidate modifiers for retinal degeneration. Although none of the top candidate genes found in this study matched Chow’s candidates, they were all statistically significant and strongly correlated, with several showing links to RP. These results may continue to improve as more of the 140 suspected genes are annotated using identical or comparative approaches.</p>

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