Understanding the underlying genetic causes of adaptation to local conditions is one of the main goals of population genetics. A strong latitudinal cline in the phenotypic trait of bud set is observed in present day populations of Norway spruce (Picea abies (L.) Karst). The first step towards determining how this strong selection on adaptive traits translates at the loci underlying the trait was to use multilocus sequence data to gain information on the fundamental population genetic properties of Norway spruce. We determined that the level of LD was low and genetic diversity was in the low range. Coalescent simulations revealed a demographic scenario of a fairly old and severe bottleneck as consistent with the observed data. To examine the role of selection at genes putatively involved in the control of bud set we, again, used a multilocus data set to test for deviations from neutrality and demographic scenarios inferred from background loci. Different candidate genes were identified by using different approaches, highlighting the difficulty in predicting how local adaptation will manifest itself on different time scales and in rangewide samples. When examining properties important in the design of association studies, the inevitable next step in identifying genes involved in local adaptation, we found that previous estimates of a low level of LD were highly influenced by the joint analysis of several loci over a large distribution range and that estimates of LD was in fact heterogeneous across loci and increased within populations. In addition, we found that within species tests for deviations from neutral expectations were highly sensitive to sample size. Additional genomic sequence characterization in Norway spruce is necessary to provide more comprehensive sets of markers for association studies, also including gene promoters and non-genic regions of the genome. In the final paper we show that the HMPR method is effective in constructing libraries enriched for the single copy fraction of the genome when applied to the large and dominantly repetitive genome of Norway spruce. In summary, the studies presented in this thesis together constitute a foundation for future studies on adaptive evolution in Norway spruce.

No description available.

Thesis (MSc)--Stellenbosch University, 2014. / ENGLISH ABSTRACT: Deciphering patterns of intraspecies population genetic structuring in commercially important shark species is essential for an integrated fisheries management approach to conservation of regional biodiversity. The common smoothhound shark, Mustelus mustelus, is an overexploited, commercially and recreationally important shark species in South Africa. Considering the vulnerable status of the common smoothhound shark and due to very limited available genetic information, this study aimed to develop molecular markers, assess patterns of genetic diversity and population connectivity along the South African coast using multilocus data generated from 12 microsatellite markers and the mitochondrial gene, NADH dehydrogenase subunit 4 (ND4). The cross-species amplification of microsatellites proved useful for genetic diversity and population genetic analysis of the common smoothhound shark. These microsatellites could aid in the molecular characterisation of other endemic and cosmopolitan species and provide valuable tools for the conservation of potentially threatened or exploited shark species. For the microsatellite data, moderate levels of genetic diversity based on the heterozygosity, allelic richness and haplotype diversity were found in a total of 144 individuals sampled across eight study populations. Estimates for pairwise population differentiation, F-statistics, AMOVA and factorial correspondence analysis (FCA) indicated significant genetic structure within and between west- and east coast populations. Additionally, Bayesian clustering analyses detected two putative ancestral gene pools, supporting the presence of a biogeographic barrier at the Cape Agulhas region and therefore genetic discontinuity between the Indian and Atlantic Ocean samples. On the contrary, mitochondrial data indicated that common smoothhound shark is genetically homogenous with substantial interoceanic gene flow. Such conflicting signals found between nuclear and mitochondrial DNA (mitonuclear discordance) can be attributed to a number of factors and could simply be due to the inherent differences in marker properties or an indication of sex biased dispersal. Despite an indication of an expanding common smoothhound shark population based on both marker types, a contemporary genetic bottleneck may have gone undetected as genetic divergence was very low in some of the study populations. Nonetheless, contemporary restriction to gene flow and historical demographics such as range expansion are proposed as the most likely forces explaining genetic structure in present-day common smoothhound sharks in South Africa. For future sustainable exploitation of common smoothhound shark, the possible existence of two genetically differentiated populations and observed asymmetric gene flow along the South African coast should be taken into consideration. It is also recommended that in the future further evaluations of finescale genetic structure and seasonal migration patterns in this commercially important species are conducted in order to allow integration of this knowledge into existing fisheries management practices. / AFRIKAANSE OPSOMMING: Die ontsyfering van patrone van intraspesie populasie genetiese struktuur in kommersieel belangrike haai spesies is noodsaaklik vir 'n geïntegreerde bestuursbenadering tot visserue en bewaring van plaaslike biodiversiteit. Die hondhaai, Mustelus mustelus, is 'n oorbenutte, kommersiële en sporthengelary belangrike haai spesie in Suid-Afrika. Met inagneming van die kwesbare status van die hondhaai en as gevolg van baie beperkte beskikbare genetiese inligting, het hierdie studie gepoog om molekulêre merkers te ontwikkel, asook om die patrone van genetiese diversiteit en populasie struktuur te ondersoek langs die Suid- Afrikaanse kus deur middel van multilokus data gegenereer uit 12 mikrosatelliet merkers en die mitokondriale geen, NADH dehidrogenase subeenheid 4 (ND4). Die kruis-spesie amplifisering van mikrosatelliete was nuttig vir genetiese diversiteit en populasie genetiese analise van die hondhaai. Hierdie mikrosatelliete kan moontlik help met die molekulêre karakterisering in ander inheemse en kosmopolitaanse spesies en kan as waardevolle hulpmiddels dien in die bewaring van potensieel bedreigde en oorbenutte haai spesies. Vir die mikrosatelliet data is matige vlakke van genetiese diversiteit gevind gebaseer op heterosigositeit, alleliese rykheid en haplotipe diversiteit gevind in 'n totaal van 144 individue getoets oor agt studie populasies. Skattings vir paarsgewyse populasie differensiasie, Fstatistieke, AMOVA en faktoriale ooreenstemming analise het betekenisvolle genetiese struktuur aangedui binne en tussen wes- en ooskus populasies. Daarbenewens, het Bayesian groepering analise twee potensiele voorvaderlike geenpoele waargeneem, ter ondersteuning van die teenwoordigheid van 'n biogeografiese versperring by die Cape Agulhas gebied en dus genetiese diskontinuïteit tussen die Indiese en Atlantiese Oseaan monsters. In teenstelling het die mitokondriale data aangedui dat hierdie haai spesie geneties homogeen is met aansienlike interoseaniese geenvloei. Sulke teenstrydige tekens tussen kern en mitokondriale DNS (mitokern onenigheid) kan toegeskryf word aan 'n aantal faktore en kan eenvoudig wees as gevolg van die inherente verskille in merker eienskappe of 'n aanduiding van geslags sydigeverspreiding. Ten spyte van 'n aanduiding van 'n groeiende hondhaai populasie gebaseer op beide merker tipes, kon 'n hedendaagse genetiese bottelnek onopgemerk gegaan het aangesien genetiese divergensie baie laag was in sommige van die studie populasies. Nietemin, hedendaagse restriksie van geenvloei en historiese demografie soos verbreding van reeks voorkoming word voorgestel as die mees waarskynlike dryfkragte wat genetiese struktuur in die hedendaagse hondhaaie in Suid-Afrika verduidelik. Vir toekomstige volhoubare benutting van die spesie, moet die moontlike bestaan van twee geneties verskillende populasies en waargenome asimmetriese geenvloei langs die Suid-Afrikaanse kus in ag geneem word. Vir die toekoms word dit ook aanbeveel dat verdere evaluerings van fyn-skaal genetiese struktuur en seisoenale migrasie patrone in hierdie kommersiël belangrike spesie uitgevoer word om die integrasie van hierdie kennis in die bestaande bestuur van visserye praktyke toe te laat. / National Research Foundation (NRF)

Forest trees are an important pool of biodiversity at the gene, individual and an ecosystem level. This variation is a result of complex environmental interactions, as well as neutral and selective forces acting on populations. Patterns of standing genetic variation are the result of adaption to past and contemporary climate change, but also historical demographic events, and disentangling the role of these forces is a central problem in population genomics. The overall goal of this study is to characterize the relative effects of demography and selection in the genome of Populus trichocarpa, a riparian deciduous tree species of North America. Specifically, I used a variety of methods to summarize patterns of genetic diversity and population structure in P. trichocarpa, and to reconstruct its demographic history. I subsequently incorporated these demographic insights to guide the application of several methods to identify genome-wide targets of natural selection within and among rangewide populations adapted to heterogeneous selection regimes. Results of this study provide insights into the history of divergence and differentiation in P. trichocarpa populations and help us identify the functional genetic variants contributing to phenotypic divergence and fitness of the individuals in it. / Ph. D. / The extant genetic variation in the forest tree populations is a product of evolutionary history and complex environmental interactions. This genetic variation can therefore be leveraged to identify both the adaptive genetic variation and understand the demographic events that might have caused these patterns. We, in this study, present and analyze the range-wide population genomic dataset of western poplar (Populus trichocarpa) and show that the current distribution of western poplar originated from the southern western poplar populations around hundred thousand years ago. Our study also identified large number of loci associated with environmental local adaptation. We identified number of genes involved in temperature sensing, light signaling pathways, and plant immunity, suggesting role of biotic and abiotic factors as major drivers of adaptation. We also detected significant overlap between highly divergent loci and adaptive genetic variation, indication the role of adaptation in species diversification. Overall, the results of this study advance our understanding of the demographic history and the major drivers of local adaptation in western poplar populations. It also gives us an observational and experimental evidence of role of environment and demographic history in shaping the genetic make-up of organism.

A presença da mão de obra escrava na produção de gêneros destinados ao mercado regional foi uma das características distintivas da escravidão brasileira. Com base nas listas nominativas, a mais importante coleção de levantamentos populacionais na América portuguesa, observa-se entre 1810 e 1825 a inserção da vila de Atibaia, a 60 quilômetros de São Paulo, no comércio da capitania. Mostramos com esta pesquisa como plantéis de até 5 cativos resultavam no aumento da produtividade de domicílios produtores de milho, aumentando a renda de pequenos lavradores. / The presence of slave labor in the production of goods for the regional market was one of the distinguishing characteristics of Brazilian slavery. Based on the most important collection of population surveys known for Portuguese America between 1810 and 1825, it is possible to observe the inclusion of the village of Atibaia, 60 kilometers away from São Paulo, in the regions commerce. This research shows that owning up to five captives caused and increase in corn productivity, therefore resulting in more wealth for small farmers.

Thesis advisor: Gabor T. Marth / Thesis advisor: Eric F. Tsung / My work is part of an effort in Dr. Gabor Marth's population genetics lab to extend the work of Marth's 2004 Genetics paper "The allele frequency spectrum in genome-wide human variation data reveals signals of differential demographic history in three large world populations" by applying its methods to new datasets. My contribution toward this end has been to create computer code (in Perl and Bash) to quantify ascertainment bias and determine proxy ancestral alleles in human genome-wide polymorphic data for post-doctoral fellow Dr. Eric Tsung's use in the determination of human demographic history. The final results of my efforts will be part of a poster by Dr. Tsung (with myself as a second author) displayed at the 2007 Biology of Genomes Symposium at Cold Spring Harbor Laboratory in Cold Spring Harbor, New York. Our goal is to turn that poster into a paper (on which I will be an author) for submission for publication in a major scientific research periodical and which will also be available in the future at http://bioinformatics.bc.edu/marthlab/ascertainmentancestral/. / Thesis (BS) — Boston College, 2007. / Submitted to: Boston College. College of Arts and Sciences. / Discipline: Biology. / Discipline: College Honors Program.

As tartarugas marinhas são répteis de vida longa que realizam extensas migrações entre áreas de alimentação e desova, resultando em estágios sucessivos de mistura e isolamento de estoques genéticos, espacial e temporalmente. A tartaruga-verde (Chelonia mydas) está ameaçada de extinção, e é fundamental entender sua dinâmica populacional e distribuição para o manejo e conservação da espécie. O objetivo deste estudo foi analisar a diversidade genética, estrutura populacional, origens dos indivíduos e história demográfica de C. mydas em três locais do Oceano Atlântico (estado do Rio de Janeiro, Brasil - área de alimentação; Guadalupe e Guiana Francesa - áreas de desova), com base em sequências da região controle do DNA mitocondrial (mtDNA) e 10 loci de microssatélites. As análises de mtDNA demonstraram que a área amostrada no Brasil tem perfil genético semelhante às outras áreas de alimentação da costa brasileira. De maneira semelhante, o perfil genético das duas áreas de desova é bastante similar ao de outros sítios reprodutivos na região do Caribe. As análises de estoque misto revelaram que os indivíduos juvenis no Brasil são provenientes principalmente da Ilha Ascensão, Guiana Francesa e Guiné Bissau. Os microssatélites detectaram estrutura genética entre as três populações, apesar de haver um fluxo de migrantes entre elas, especialmente de indivíduos da Guiana Francesa em direção ao Brasil e Guadalupe. Guiana Francesa, Guadalupe e Brasil apresentaram declínio populacional severo, detectado pelos microssatélites. Apesar da distribuição global, as populações de tartarugas-verdes estão sujeitas a diferentes pressões nos habitats que ocupam, e é importante entender quais populações estão ameaçadas. Este estudo enfatiza a importância da conectividade entre áreas de alimentação e desova que podem estar amplamente distribuídas de acordo com oportunidades ou restrições ecológicas, adicionando informações a respeito da dispersão e a dinâmica de tartarugas-verdes que frequentam o Oceano Atlântico / Sea turtles are reptiles with a long lifespan that undertake wide-ranging migrations through feeding and nesting sites, resulting in successive stages of mixing and isolating genetic stocks, both spatially and temporally. The green sea turtle (Chelonia mydas) is threatened with extinction, and it is essential to understand its population dynamics and distribution in order to manage and preserve the species. The aim of this study was to analyze the genetic diversity, population structure, natal origins and demographic history of C. mydas in three sites in the Atlantic Ocean (Rio de Janeiro state, Brazil - feeding ground; Guadeloupe and French Guiana - nesting sites), based on sequences of the mitochondrial DNA (mtDNA) control region and 10 microsatellites loci. The mtDNA analyses demonstrated that Brazilian samples have the same genetic profile of others collected in feeding grounds in the Brazilian coast. Similarly, the genetic profile of the nesting sites has resemblances to others in the Caribbean region. The mixed stock analyses revealed that most of the juveniles in Rio de Janeiro state come from Ascension Island, French Guiana and Guinea Bissau. Microsatellites detected genetic structure among the three populations, even with migration flows, especially in individuals from French Guiana to Brazil and Guadeloupe. French Guiana, Guadeloupe and Brazil presented a severe population decline, detected by the microsatellites analyses. Despite the worldwide distribution, green sea turtle populations undergo different pressures at the habitats they occupy, and it is important to understand which populations are threatened. This study emphasizes the importance of connecting nesting and feeding areas that can be widely distributed according to ecological opportunities or constraints, adding information on dispersion and population dynamics of green sea turtles on Atlantic Ocean

Widespread species that occupy continents and oceanic islands provide an excellent opportunity to study evolutionary forces responsible for population divergence. Here, I use multilocus coalescent based population genetic and phylogenetic methods to infer the evolutionary history of the common chaffinch (Fringilla coelebs), a widespread Palearctic passerine species. My results showed strong population structure between Atlantic islands. However, the two European subspecies can be considered one panmictic population based on gene flow estimates. My investigation of effects of sampling on concatenated and Bayesian estimation of species tree (BEST) methods demonstrated that concatenation is more sensitive to sampling than BEST. Furthermore, concatenation can provide incorrect evolutionary relationships with high confidence when sample size is small. In conclusion, my results suggest European ancestry for the common chaffinch and Atlantic islands appear to have been colonized sequentially from north to south via Azores.

Widespread species that occupy continents and oceanic islands provide an excellent opportunity to study evolutionary forces responsible for population divergence. Here, I use multilocus coalescent based population genetic and phylogenetic methods to infer the evolutionary history of the common chaffinch (Fringilla coelebs), a widespread Palearctic passerine species. My results showed strong population structure between Atlantic islands. However, the two European subspecies can be considered one panmictic population based on gene flow estimates. My investigation of effects of sampling on concatenated and Bayesian estimation of species tree (BEST) methods demonstrated that concatenation is more sensitive to sampling than BEST. Furthermore, concatenation can provide incorrect evolutionary relationships with high confidence when sample size is small. In conclusion, my results suggest European ancestry for the common chaffinch and Atlantic islands appear to have been colonized sequentially from north to south via Azores.

Thesis (Ph. D.)--Cornell University, 1976. / Vita. Includes bibliographical references (p. 290-310).