Thesis (Ph.D.)--University of Alabama at Birmingham, 2008. / Title from first page of PDF file (viewed on June 23, 2009). Includes bibliographical references.

Thesis (Ph. D.)--Case Western Reserve University, 2005. / [School of Medicine] Department of Epidemiology and Biostatistics. Includes bibliographical references. Available online via OhioLINK's ETD Center.

Background Atlantic salmon (Salmo Salar) is a key aquaculture species in several countries. Since its critical role in economic sector and scientific research, this species has been relatively extensively investigated, in comparison with other farmed and wild aquatic species. However, the genetic components associated with growth and fillet-related traits are lack consistency, and the issue of sea louse disease in both wild and famed salmon is still unsolved. Objectives Overall aim of this project was to understand the genetic basis of growth-related traits and host resistance to sea lice using three large commercial farmed salmon populations. Specifically, the method of quantitative trait loci (QTL) mapping, genome-wide association study (GWAS), and genomic prediction (GS) were utilized to dissect the genetic architectures associated with traits of interest in our experimental populations. Prior to this, linkage mapping was performed to construct a high-density linkage map for Atlantic salmon. Results Linkage map A linkage map was firstly constructed underlying a SNP array containing 132 K validated SNPs. 96,396 SNPs were successfully assigned to 29 chromosomes that correspond to the linkage group number of European Atlantic salmon. 6.5 % of unassigned contigs, which was equal to 1 % of recent whole genome reference assembly (GCA_000233375.4) anchored to exist chromosomes by referring to linkage mapping result. Genetic components associated with growth traits Heritabilities of growth-related traits were about 0.5 to 0.6 in adult and juvenile farmed salmon. The QTL mapping and GWAS suggested the growth-related traits are likely a polygenic genetic architecture with no major QTL segregating. The prediction accuracy estimated by genomic prediction showed that approximately 5,000 SNP markers could achieve the highest accuracy in body weight and length in juvenile salmon within population. Genetic components associated with lice resistance The heritability of lice resistance was 0.22 to 0.33 using pedigree and genetic relationship matrices respectively. GWAS indicated that the host resistance to sea lice was likely polygenic with no individual SNP surpassed the genome-wide significance threshold. Genomic prediction showed that about 5 to 10 K SNPs was able to achieve the asymptote of accuracy in closely related animals, while the greatest advantage of genomic prediction was observed in non-sibling test within population. Conclusions As the growth-related traits and lice resistance are both likely polygenic and population-specific, the genomic prediction is an efficient approach to capture the genetic variances of the traits in selection candidates in experimental population, especially for traits with low heritability such as flesh colour and lice resistance. Family-based selection method is the better choice than mass selection to accumulate the genetic effects in corresponding SNP platform. Given the high cost of genotyping and field data collection, the genotyping-by-sequencing and genotype imputation are likely the way to make significant improvements in relevant research.

The diploma thesis engages in spiritual dimension of landscape. It defines, what the spiritual dimension of landscape is and which kinds of spiritual values it consist of. The thesis also concerns the material representation of these values in the landscape. The region, where the practical part of the thesis held place is an isolated location on the borderline between Czech and Slovak republic. Detailed landscape analysis proceeded and values, problems and characteristics of the area were specified. Values and problems were the basis for first part of the landscape study - the precautions and land use changes proposal. The aim of this proposal is preservation and regeneration of the landscape character in the area. The second part of the study is concept of walk following the spiritual values of the landscape. Objective of the walk is to support the perception of the spiritual values by residents and visitors through the symbols, tasks and accompanying narration. The study pursues the preservation of spiritual values by remaining in the memory of participants for next generations.

Doctor of Philosophy / Department of Statistics / Weixing Song / In this dissertation, we proposed a new robust estimation procedure for two multivariate mixture regression models and applied this novel method to functional mapping of dynamic traits. In the first part, a robust estimation procedure for the mixture of classical multivariate linear regression models is discussed by assuming that the error terms follow a multivariate Laplace distribution. An EM algorithm is developed based on the fact that the multivariate Laplace distribution is a scale mixture of the multivariate standard normal distribution. The performance of the proposed algorithm is thoroughly evaluated by some simulation and comparison studies. In the second part, the similar idea is extended to the mixture of linear mixed regression models by assuming that the random effect and the regression error jointly follow a multivariate Laplace distribution. Compared with the existing robust t procedure in the literature, simulation studies indicate that the finite sample performance of the proposed estimation procedure outperforms or is at least comparable to the robust t procedure. Comparing to t procedure, there is no need to determine the degrees of freedom, so the new robust estimation procedure is computationally more efficient than the robust t procedure. The ascent property for both EM algorithms are also proved. In the third part, the proposed robust method is applied to identify quantitative trait loci (QTL) underlying a functional mapping framework with dynamic traits of agricultural or biomedical interest. A robust multivariate Laplace mapping framework was proposed to replace the normality assumption. Simulation studies show the proposed method is comparable to the robust multivariate t-distribution developed in literature and outperforms the normal procedure. As an illustration, the proposed method is also applied to a real data set.

Submitted by MARCOS LEANDRO TEIXEIRA DE OLIVEIRA (marcosteixeira@ufv.br) on 2018-08-24T12:59:01Z No. of bitstreams: 1 texto completo.pdf: 3178737 bytes, checksum: 5041c62a2f0856a630f7f0f0865ee43b (MD5) / Made available in DSpace on 2018-08-24T12:59:01Z (GMT). No. of bitstreams: 1 texto completo.pdf: 3178737 bytes, checksum: 5041c62a2f0856a630f7f0f0865ee43b (MD5) Previous issue date: 2016-08-12 / Fundação de Amparo à Pesquisa do Estado de MInas Gerais / Para identificar regiões genômicas envolvidas na regulação de processos fisiológicos fundamentais, como fotossíntese, respiração e aqueles relacionados, uma população de ILs de Solanum pennellii em fundo genético de S. lycopersicum (M82) foi analisada. Foram estudados parâmetros fisiológicos, metabólicos e de crescimento, que vão desde troca gasosa (por exemplo, taxa de assimilação de CO 2 e condutância estomática), fluorescência da clorofila (por exemplo, taxa de transporte de elétrons e de extinção fotoquímica), bem como parâmetros de crescimento (por exemplo, taxa de crescimento relativo, matéria seca da raiz e parte aérea). Em paralelo, nós também analisamos, por meio de uma plataforma robotizada, os principais intermediários metabólicos (por exemplo, açúcares, amido, nitrato, aminoácidos e proteínas), e a atividade de nove enzimas representativas do metabolismo central do C e N. O objetivo do estudo foi: (1) combinar informações sobre as atividades enzimáticas e os níveis de metabólitos de caule, pecíolo e folha com a biomassa e rendimento de frutos; (2) através do estudo desses três órgãos interligados, examinar o quanto há de conectividade entre a atividade das enzimas e os níveis de metabólitos; (3) fornecer informações preditivas sobre as diferenças de particionamento do C e assimilação N inorgânico; (4) investigar a diversidade genética natural e identificar QTLs relacionados ao metabolimo central e a atividade enzimática no caule, pecíolo e folha. As análises dos dados permitiram a identificação de 67 QTL relacionados à parametros fisiológicos e metabólicos. Além disso, uma anotação abrangente e detalhada destas regiões permitiu apontar um total de 87 genes candidatos que possam controlar as características investigadas. Desses, 70 genes apresentou variantes alélicas relacionadas inserções de elementos transponíveis entre os dois genótipos parentais. As análises metabólicas e enzimática revelaram alta frequência de correlações positivas entre as enzymas, frequência moderada de correlações entre metabólitos relacionados, e baixa correlações entre a atividade das enzimas e os níveis de metabólitos. Tomados em conjunto, vapresentamos o maior estudo de parâmetros de fotossíntese e crescimento em plantas de tomate até à data. Os resultados permitiram a identificação de genes candidatos que podem estar envolvidos na regulação da fotossíntese, metabolismo primário e crescimento da planta, e fornece um recurso genético valioso para a compreensão dos mecanismos bioquímicos envolvidos na regulação do metabolismo primário em tomateiro. / To identify genomic regions involved in the regulation of fundamental physiological processes such as photosynthesis, respiration and underlying traits, a population of 71 Solanum pennellii introgression lines (ILs) in the genetic background of S. lycopersicum (M82) was analyzed. We determined IL phenotypes physiological, metabolic and growth related traits, ranging from gas- exchange parameters (e.g. CO 2 assimilation rates and stomatal conductance), chlorophyll fluorescence parameters (e.g. electron transport rate and photochemical quenching) as well as growth related traits (e.g. relative growth rate, shoot and root dry matter accumulation). In parallel, we also analyzed by robotized platform the major metabolic intermediates (e.g. sugars and starch), and the activities of nine representative enzymes from central C and N metabolism. We aimed: (1) combine information about enzyme activities and metabolite levels from stem, petiole and leaf with biomass and fruit yield; (2) by studying these three interconnected organs, examine how much connectivity exists between enzyme activities and metabolite levels; (3) provide predictive information about differences in C partitioning and inorganic N assimilation; (4) investigate the natural genetic diversity and identify QTL controlling variation of enzyme activities and metabolite levels in stem, petiole and leaf. Data analyses allowed identification of 67 physiological and metabolic QTL. Additionally, a comprehensive and detailed annotation of these regions allowed to point out a total of 87 candidate genes that might control the investigated traits. Out of those, 70 genes showed allelic variants related to differentially transposable element insertions pattern between both parental genotypes. Furthermore, the results revealed high frequency of positive correlations between enzyme activities, moderate frequency of correlations between related metabolites, and few correlations between enzyme activities and metabolite levels. Taken together, we present the largest study of photosynthetic and growth parameters in tomato plants to date. Our results allowed the identification of candidate genes that might be involved in the regulation of photosynthesis, primary metabolismo and plant growth, and provide an valuable genetic resource to understanding of the biochemical mechanisms involved in the regulation of primary metabolism in tomato plants.

O maracujazeiro-doce (Passiflora alata Curtis) é uma espécie de cruzamento e diploide (2n = 18) que vem se destacando no Brasil por alcançar melhores cotações no mercado de frutas. Apesar disso, é sensível às adversidades em monocultura, sendo extremamente afetada por variações climáticas, pragas e doenças, dentre elas, a bacteriose causada por Xanthomonas axonopodis pv. passiflorae. O patógeno é endêmico no país, apresentando considerável variabilidade genética nas populações naturais. O presente trabalho teve como objetivo contribuir para o melhoramento genético do maracujazeiro-doce por meio do mapeamento de QTL (Quantitative Trait Loci) relacionados à resistência à bacteriose de uma população F1 segregante, composta de 100 indivíduos e oriunda do cruzamento simples entre dois acessos não endogâmicos. A população foi mantida em casa de vegetação, em delineamento em blocos ao acaso, e foi inoculada com três isolados bacterianos, M129, PA8-2 e AP302, durante 2010, 2012 e 2013, respectivamente. Aos 14 dias após a inoculação, as folhas foram fotografadas e a partir das imagens digitalizadas foram mensuradas as áreas: sadia, de clorose, necrose e lesão (soma das áreas de clorose e necrose), além da área total da folha. Inicialmente, foi realizada uma análise exploratória dos dados e subsequentemente foram selecionados os caracteres área de necrose e de lesão foliar para fins de mapeamento de QTL. Para tanto foi usada uma estratégia desenvolvida para a detecção de QTL em F1 segregantes, com base em modelos mistos, considerando diferentes estruturas de variância e covariância, visando explicar os padrões de variação existentes. A herdabilidade variou de 14% a 64% para o carater necrose, e se manteve estável (28%) para o carater área de lesão, nos três anos de avaliação. Com base em um mapa de ligação integrado previamente construído, foi realizado o mapeamento de QTL por intervalo composto. Foram identificados 20 QTL, sendo 9 deles referentes à necrose e 11 referentes à lesão. Os efeitos individuais variaram de 0,2% a 15,7%, sendo que dois QTL de maior efeito (R² = 15,7%) foram identificados em resposta ao isolado PA8-2, um localizado no grupo de ligação III e o outro no IV do mapa genético integrado do maracujazeiro-doce. Essas informações, aliadas a outros estudos relacionados à produção de frutos, devem contribuir para o melhoramento do maracujazeiro-doce. / The sweet passion fruit (Passiflora alata Curtis) is an outcrossing and diploid (2n = 18) species that is achieving a competitive advantage in the fruit markets in Brazil. Nevertheless, the crop is sensitive to monoculture, being greatly affected by weather changes, pests and diseases, among them the bacterial disease caused by Xanthomonas axonopodis pv. passiflorae. The pathogen is endemic in the country, with considerable genetic variability in natural populations. The present study aimed to contribute to genetic improvement of sweet passion fruit through QTL (Quantitative Trait Loci) mapping associated with bacterial resistance using a F1 segregating population containing 100 individuals, which resulted from a single cross between two outbred accessions. The population was kept in a greenhouse, arranged in a randomized block design, and innoculated with three bacterial isolates, M129, PA8-2 and AP302, during 2010, 2012 and 2013, respectively. At 14 days after inoculation, the inoculated leaves were photographed, and the following areas from the scanned images were measured: healthy, with chlorosis, necrosis and leaf lesion (sum of the areas with chlorosis and necrosis), in addition to the total area of the leaf. Initially all data were investigated trough an exploratory analysis and those relative to necrotic and leaf lesion areas were subsequently used for QTLmapping. For that we used a strategy developed for QTL detection in F1 segregating populations based on composite interval mapping and mixed models considering different variance and covariance structures in order to explain the existing patterns of variation. Heritabilities ranged from 14% to 64% for the trait necrosis, and remained stable (28%) for the trait leaf lesion for the three years of evaluation. Based on an integrated linkage map previously constructed, we performed a composite interval mapping of QTL. Twenty QTL were identified, 9 of them related to necrosis and 11 related to the leaf lesion. The individual effects ranged from 0,2% to 15,7%, and two large-effect QTL (R² = 15,7%) were identified in response to isolate PA8-2, one assigned to linkage group III and other to linkage group IV of the integrated genetic map of sweet passion fruit. This information combined with other studies related to fruit production may contribute to sweet passion fruit breeding.

Uppsatsen utgår i stora drag från Wolfgang Kemp's receptionsteorier för att diskutera arkitekten Ferdinand Bobergs bidrag till den svenska arkitekturen inom industrin under 1800-talets andra hälft. Vattentornet vid Mosebacke i Stockholm fungerar i detta arbete som en utgångspunkt för att förstå Bobergs arkitekturella värdegrund och formmässiga ideologi. Uppsatsen ägnar också att etablera en övergripande förståelse av vattentornets plats i arkitekturrummet – hur vattentornet samverkar med den omedelbara miljön i både dess samtid och nutid. Mosebacke vattentorns återvändande till tidigare stilepoker inom arkitekturen diskuteras i detta arbete utifrån begreppet historicism och fungerar här som en central frågeställning som kontinuerligt bearbetas i uppsatsen. Utifrån dokumentation i form av artiklar, målningar och fotografier, som berör vattentornet vid Mosebacke, har det kunnat konstaterats att det välkomnades av samtiden och är än idag en påminnelse av den ”nya” arkitekturens frammarsch i den moderna staden. Sökord: Ferdinand Boberg, arkitektur, Stockholm, Genius Loci, industri, historicism, plats, vattentorn, Mosebacke.

Doctor of Philosophy / Department of Plant Pathology / Scot H. Hulbert / The rice cultivar Oryzica Llanos 5 (OL5) possesses a high level of resistance to the fungus Magnaporthe grisea. The number and chromosomal location of quantitative trait loci (QTL) conferring resistance against eight isolates of the blast fungus were tested in two different populations of recombinant inbred lines from the cross Fanny x OL5. Twenty one QTL were detected and associated with the resistance traits, disease leaf area and lesion type, on 9 rice chromosomes. Eight of these 21 resistance loci had significant resistance effects in both experiments, while the others had effects that were only statistically significant in one experiment. Most, but not all, of the QTL occurred in the same genomic regions as either genes with major race-specific effects or other resistance QTL that had been described in previous experiments. Most of the QTL appeared to be race-specific in their effects but it is possible some of the QTL with smaller effects were nonspecific. One of the blast isolates used was FL440, which causes limited disease on OL5 and was probably virulent on most or all of the major genes from OL5. Three QTL affected resistance to FL440 in both experiments, one of which mapped to a region on chromosome 9 where no blast resistance genes have yet been mapped. An advanced backcross strategy with marker-assisted selection for OL5 alleles in QTL regions was used to generate five BC2F3 populations carrying five different target regions associated with partial resistance to rice blast disease. Three of five of these populations were analyzed for segregation for resistance to the M. grisea isolate FL440. One QTL designated qrbr-11.3 near the bottom of rice chromosome 11 was found to be significantly associated with partial blast resistance in 120 lines of a BC2F3 population (P< 0.01). This QTL accounted for 12.4% and 8.0% of the phenotypic variation in diseased leaf area and lesion type observed under greenhouse inoculation. Examination of the genomic sequence at the qrbr-11.3 locus showed that twenty-nine candidate resistance genes are present at that locus (~1.8 Mb), twenty-seven of which are predicted NBS-LRR genes. Ultimately, the information from this study can be integrated into the development of improved lines with OL5-derived QTL for resistance.

Magister Scientiae - MSc / The objective of the study was to conduct an internal validation on miniSTR systems and apply it to cases received from the South African Missing Persons Task Team (SAMPTT). This was prompted by the fact that miniSTR systems have been shown to out perform some of the commercial kits available in the time of the study and provide an alternative to mtDNA when analysing degraded DNA from skeletal remains and that the DNA extracted from skeletal remains received from the SAMPTT would be degraded due to the remains generally being fragmented or charred and buried for many years. The miniSTR loci chosen for validation comprised the Combined DNA Index System (CODIS) thirteen core loci and were arranged into four triplexes and one uniplex. / South Africa