Begonia is one of the ten largest plant genera and is found throughout the tropics. I have used Begonia section Gireoudia to study the genetics underlying vegetative diversity in tropical herbaceous plants. Section Gireoudia is a large Central American group. The section is remarkably diverse in morphology and habitat preference. It ranges from wet rainforests to seasonally dry forests. I have investigated variation in morphological, anatomical and ecophysiological differences for 21 species in Begonia section Gireoudia. Based on the observed variation, species in Begonia section Gireoudia form a complex and unique group that stands out from currently analysed taxa in the global scale of variation on the basis of leaf function and resource use strategy traits as well as their peculiar leaf anatomy. Traits directly related to leaf function such as photosynthesis and stomatal conductance has very low values which overlap with those of CAM and aquatic plants. Values for traits indicative of resource use such as leaf mass area (LMA) and leaf dry matter content (LDMC) are also very low in Begonia when compared with the values observed globally. The trait- trait correlations across the species in section Gireoudia were also investigated and revealed patterns in micromorphology and ecophysiology. Some of the traits measured are correlated with each other in apparently straightforward, well charaterised biological relationships e.g., the variation among Begonia species in stomatal conductance and net assimilation rate are positively correlated. On the other hand, the linkage of high Amass with high Nmass which is in large part the result of a direct causal relationship, has been observed at the global scale but this relationship is not significant in Begonia section Gireoudia. I examined B. plebeja and B. conchifolia, two very closely related though ecologically divergent species from Meso-America, in more detail. I detected significant differences between the species for a number of phenotypic variables which may be related to their habitat preferences. This suggested that environmental conditions have driven divergent evolution of phenotypic traits for these two species. Using a mapping population generated from hybrids between these two species I was able to examine the genetic basis of these differences. This revealed that although some traits (such as anthocyanin accumulation) appear to be under simple genetic control, most of the variation between species has complex genetic inheritance patterns. I used QTL analysis to identify significant QTLs for 20 physiological, anatomical and morphological traits which varied between these two species. Leaf shape traits appear to be largely influenced by a few loci of large effect, making these good potential targets for further analysis. The study also identified clusters of coincident QTLs for different correlated traits identifying pleiotropic genes or suites of linked loci.

For the modern dairy cow, advances in genetics and breeding for productivity has resulted in an increasing incidence of health disorders and reduced longevity. One of the most important health problems is lameness, which has led to significant economic, production and welfare consequences. A reduction in lameness will improve the economic future of the dairy industry through increased profitability and decreased welfare-related problems. Although positive attempts have been made by researchers and the industry towards improving lameness, it has remained a persistent ailment for dairy farmers. Further analysis of the genetic and environmental factors influencing lameness is warranted so that selection indices and management practices can be modified leading to improved health and welfare of the dairy cow. Several factors that cause dairy cow lameness have been implicated. I reviewed previous studies on these causative factors as well as the association between lameness, longevity and fertility. It has also been suggested that lameness affects milk production of dairy cows, but reports on the association between lameness and daily milk yield of cows have varied among researchers. Using locomotion score data on 248 cows from the Langhill herd, I investigated the relationship between locomotion score which has a high genetic correlation with lameness and various explanatory variables and also the association between daily milk yield and lameness. The study revealed that the most significant factors affecting locomotion are management regime (high concentrate feed and all year indoor housing; low concentrate feed and outdoors in summer) and time of year when cows are locomotion scored. It also showed that lameness adversely affects the milk yield of later lactation cows, and that high yielding cows are more susceptible to lameness. Housing environment plays a significant role in the health and welfare of dairy cows. With national type evaluation records, I estimated the association between housing systems and lameness-related type traits as well as genetic parameters for the locomotion traits. The analysis indicated that cows kept at pasture had favourable linear and composite type trait scores compared with cows in cubicles, straw yards and slatted floors or loafing yards. Locomotion score had strong genetic and phenotypic correlations with the leg and feet composite. Bone quality, which is a new trait in the UK type classification scheme, was moderately heritable (0.23) and had a moderate and positive genetic association with locomotion and leg and feet composite. This suggests that breeding for flatter, more refined bones could reduce locomotion disorders and help improve the longevity of the dairy cow. Analysis of national data again showed reduced incidence of digital dermatitis (DD) for cows at pasture and those with flatter, more refined bones, higher locomotion score and better leg and feet composite. Estimates of genetic parameters indicated heritable variation of DD among cows and moderate genetic associations between DD and production traits and longevity. Incorporating DD in future selection indices will be useful for increased productive life. Using random regression, I analysed changes in type traits associated with lameness (locomotion, rear legs, side view, foot angle and leg and feet composite) in relation to time (months) that cows had spent in cubicles before being classified. The general trend supported the fact that cubicle housing is unfavourable to these traits. There was significant evidence of a genotype x environment interaction, suggesting variation between bulls in the sensitivity of their daughters to cubicle housing with time.

Stroke is the 2nd leading cause of death in the UK and worldwide. 150,000 people have a stroke each year in the UK (ischaemic stroke being the most common) and a significant proportion of NHS resources go towards the treatment of these individuals (~£2.8 billion). Twin and family history studies have shown that having affected relatives makes you between 30 and 76% more likely to suffer a stroke, suggesting that there is a genetic component to the disease. So far, no genes have been convincingly associated with stroke. Intermediate traits may be useful tools for identifying genetic factors in complex disease. For stroke, two commonly used intermediate traits are carotid intima-media thickness (CIMT) and white matter hyperintensities (WMHs), which both show high heritabilities. These traits have both been studied widely for associations with many candidate gene polymorphisms. In this thesis I systematically reviewed the literature for all genetic association studies of these two traits. Where particular associations have been studied in large numbers I meta-analysed the available data, developing novel methods for meta-analysis of genetic association data. I found there was substantial heterogeneity and small study bias in the literature and most polymorphisms have still been studied in too small numbers to make accurate conclusions. Apolipoprotein E (APOE) ε is the only polymorphism which shows a consistent association with CIMT, even when only the largest studies are analysed (MD 8μm (95% CI 6 to 11) between E4 and E3, and E3 and E2). No polymorphism has shown a convincing association with WMHs and interestingly APOE appears unlikely to be associated with this trait. This is consistent with previous work that shows that APOE is associated with large artery but not small artery stroke. Taking this hypothesis I attempted to investigate the association of APOE comparing patients who have had a large artery stroke with those who have had a small artery stroke in the Edinburgh Stroke Study cohort. However, genotyping of this polymorphism failed and I present investigatory analyses of problems from the genotyping laboratory.

Made available in DSpace on 2014-06-11T19:35:00Z (GMT). No. of bitstreams: 0 Previous issue date: 2007-12-18Bitstream added on 2014-06-13T21:06:58Z : No. of bitstreams: 1 cruz_jcs_dr_botfca.pdf: 308912 bytes, checksum: 39a12254aaeafdcfc7adbf88eea87463 (MD5) / A doença conhecida por hérnia das crucíferas é causada pelo patógeno Plasmodiophora brassicae Woronin, sendo uma das mais importantes e de difícil controle em brássicas. Em virtude da dificuldade de preservação das estruturas de resistência de P. brassicae em condições laboratoriais, por se tratar de um parasita obrigatório, foi desenvolvido um ensaio visando a obtenção de uma técnica eficiente e prática de preservação. Para isto, raízes de diferentes brássicas naturalmente infectadas por P. brassicae, contendo hérnias, foram coletadas de uma mesma propriedade (município de Pardinho - SP), em diferentes períodos, e imediatamente congeladas em freezer a -20°C±2°C. Os tratamentos foram: T1: hérnias congeladas por 389 dias, (rúcula); T2: hérnias congeladas por 242 dias (brócolis); T3: hérnias congeladas por 21 dias (couve-chinesa) e T4: testemunha (sem inóculo). Os testes de patogenicidade, após os diferentes períodos de armazenamento, foram realizados em condições controladas de casa de vegetação (25±2°C), onde em cada planta, de uma variedade suscetível de couve-chinesa (Pak choi), foi inoculado 2mL da suspensão de esporos, dos diferentes tratamentos, na concentração de 107 esporos.mL–1. Cada tratamento contou com seis repetições distribuídas ao acaso. Passadas cinco semanas, após a inoculação, as raízes foram lavadas e avaliadas. Houve diferença estatística significativa entre os materiais avaliados quanto aos diferentes períodos de armazenamento em “freezer”. Os materiais congelados entre 21 a 242 dias preservaram suas características infectivas, sendo este método uma boa opção para a preservação das estruturas de repouso nesse período. Foram realizados testes de patogenicidade e análises moleculares de populações de P. brassicae,... / Disease known as clubroot of crucifers is caused by the pathogen Plasmodiophora brassicae Woronin, and is one of the most important and difficult control crucifer diseases in brassicas. Because of the difficulty in preserving the resistance structures of P. brassicae under laboratory conditions, given that it is an obligate parasite, an assay was carried out to develop a practical and effective technique that would allow further studies to be conducted. On this proposal, roots of different brassica species naturally infected by P. brassicae showing clubroot symptoms were collected in the some grower (Pardinho, SP-city, Brazil) during different seasons, and were immediately frozen at approximately 20°C±2°C. The treatments were: T1: clubroots frozen for 389 days (arugula); T2: clubroots frozen for 242 days (broccoli); T3: clubroots frozen for 21 days (Chinese cabbage), and T4: control (no inoculum). The pathogenicity tests after different storage periods were conducted under controlled greenhouse conditions (25±2°C); each plant of a susceptible variety of Chinese cabbage was inoculated with 2mL of a spore suspension of the various treatments at a concentration of 107spores.mL-1. Each treatment consisted of six replicates distributed at random. The roots were washed and evaluated five weeks after inoculation. There were statistical differences between the materials evaluated with respect to different storage periods in the freezer. Materials kept frozen between 21 and 242 days retained their infective traits. Therefore, this method is a good option to preserve resting spores during this period. In addition, pathogenicity tests and molecular analyses were conducted with P. brassicae populations obtained from infected roots of several production regions of Brazil, on some...(Complete abstract click electronic access below)

Orientador: Edson Luiz Furtado / Banca: Marli Teixeira de Almeida Minhoni / Banca: Romulo Fujito Kobori / Banca: Louise Larissa May de Mio / Banca: César Júnior Bueno / Resumo: A doença conhecida por hérnia das crucíferas é causada pelo patógeno Plasmodiophora brassicae Woronin, sendo uma das mais importantes e de difícil controle em brássicas. Em virtude da dificuldade de preservação das estruturas de resistência de P. brassicae em condições laboratoriais, por se tratar de um parasita obrigatório, foi desenvolvido um ensaio visando a obtenção de uma técnica eficiente e prática de preservação. Para isto, raízes de diferentes brássicas naturalmente infectadas por P. brassicae, contendo hérnias, foram coletadas de uma mesma propriedade (município de Pardinho - SP), em diferentes períodos, e imediatamente congeladas em freezer a -20°C±2°C. Os tratamentos foram: T1: hérnias congeladas por 389 dias, (rúcula); T2: hérnias congeladas por 242 dias (brócolis); T3: hérnias congeladas por 21 dias (couve-chinesa) e T4: testemunha (sem inóculo). Os testes de patogenicidade, após os diferentes períodos de armazenamento, foram realizados em condições controladas de casa de vegetação (25±2°C), onde em cada planta, de uma variedade suscetível de couve-chinesa (Pak choi), foi inoculado 2mL da suspensão de esporos, dos diferentes tratamentos, na concentração de 107 esporos.mL-1. Cada tratamento contou com seis repetições distribuídas ao acaso. Passadas cinco semanas, após a inoculação, as raízes foram lavadas e avaliadas. Houve diferença estatística significativa entre os materiais avaliados quanto aos diferentes períodos de armazenamento em "freezer". Os materiais congelados entre 21 a 242 dias preservaram suas características infectivas, sendo este método uma boa opção para a preservação das estruturas de repouso nesse período. Foram realizados testes de patogenicidade e análises moleculares de populações de P. brassicae, ...(Resumo completo, clicar acesso eletrônico abaixo) / Abstract: Disease known as clubroot of crucifers is caused by the pathogen Plasmodiophora brassicae Woronin, and is one of the most important and difficult control crucifer diseases in brassicas. Because of the difficulty in preserving the resistance structures of P. brassicae under laboratory conditions, given that it is an obligate parasite, an assay was carried out to develop a practical and effective technique that would allow further studies to be conducted. On this proposal, roots of different brassica species naturally infected by P. brassicae showing clubroot symptoms were collected in the some grower (Pardinho, SP-city, Brazil) during different seasons, and were immediately frozen at approximately 20°C±2°C. The treatments were: T1: clubroots frozen for 389 days (arugula); T2: clubroots frozen for 242 days (broccoli); T3: clubroots frozen for 21 days (Chinese cabbage), and T4: control (no inoculum). The pathogenicity tests after different storage periods were conducted under controlled greenhouse conditions (25±2°C); each plant of a susceptible variety of Chinese cabbage was inoculated with 2mL of a spore suspension of the various treatments at a concentration of 107spores.mL-1. Each treatment consisted of six replicates distributed at random. The roots were washed and evaluated five weeks after inoculation. There were statistical differences between the materials evaluated with respect to different storage periods in the freezer. Materials kept frozen between 21 and 242 days retained their infective traits. Therefore, this method is a good option to preserve resting spores during this period. In addition, pathogenicity tests and molecular analyses were conducted with P. brassicae populations obtained from infected roots of several production regions of Brazil, on some...(Complete abstract click electronic access below) / Doutor

Os defeitos de pernas são decorrentes do rápido crescimento das aves, tornando-se necessário um estudo genético das associações entre essas características. Os objetivos deste estudo foram estimar os parâmetros genéticos para defeitos de pernas por escore visual, discondroplasia tibial, características de desempenho e carcaça, assim como estimar as tendências genéticas, ganho genético potencial e respostas correlacionadas, em uma linhagem de frangos de corte. O banco de dados utilizado neste estudo foi composto por registros de 128.459 aves, com informações de pedigree, manejo, desempenho, qualidades e defeitos de carcaça pertencentes a um rebanho elite de uma linhagem comercial de frangos de corte sob seleção. As características estudadas foram: os pesos vivos do animal aos sete (P7), 30 (P30) e 38 dias de idade (P38), peso ao abate (PA), peso eviscerado (PE), peso de peito (PPEI), peso de pernas (PPER), rendimento de carcaça (RCAR), rendimento de peito em relação ao peso ao abate (RPEI), rendimento de pernas em relação ao peso ao abate (RPER), eficiência alimentar (EFAL), defeito de pernas por escore visual (DPER), discondroplasia tibial (DT) e defeito de pernas total (DPERT). Para as características P7, P30, P38, PA, PE, PPEI, PPER, RCAR, RPEI, RPER, EFAL as análises genéticas foram realizadas pela metodologia dos modelos lineares clássicos, utilizando o método da Máxima Verossimilhança Restrita (REML) sob um modelo animal. Além da metodologia dos modelos lineares clássicos, as análises genéticas para as características DPER, DT e DPERT foram realizadas utilizando modelos lineares generalizados com função de ligação logit, devido à natureza categórica destas características, empregando-se modelo animal e modelo pai, com o método da quasi-verossimilhança penalizada (PQL). As análises foram obtidas utilizando-se o software ASREML®. As estimativas de herdabilidades obtidas para as características estudadas variaram de moderadas a altas, exceto para DT e DPERT, para as quais as estimativas de herdabilidades foram baixas. As estimativas de correlações genéticas entre as características de desempenho e carcaça e defeitos de pernas variaram de moderadas a altas, exceto para DPER e EFAL que apresentaram baixas correlações genéticas com as características de desempenho carcaça. As tendências genéticas para as características de desempenho e carcaça são indicativas que há seleção para características de peso vivo em diferentes idades e de desempenho e carcaça nesta linhagem, diferente do que acontece para as características de DPER, DT e DPERT, para as quais não há seleção evidente nessa linhagem. / The legs defects are caused by rapid growth of broilers, therefore it is necessary to study of genetic associations between these traits. The objectives of this study were to estimate genetic parameters for legs defects by visual score, tibial dyschondroplasia, performance and carcass traits, and to estimate the genetic trends, potential genetic gain and correlated response in a broiler line. The database used in this study consisted of records from 128,459 birds, containing pedigree information, management, performance, qualities and defects, of an elite flock from a commercial strain of broiler chickens under selection. The traits studied were: the live weight at seven (P7), 30 (P30) and 38 days old (P38), slaughter weight (PA), carcass weight (PE), breast weight (PPEI), leg weight (PPER), carcass yield (RCAR), breast yield (RPEI), legs yield (RPER), feed efficiency (EFAL), legs defect by visual score (DPER), tibial dyschondroplasia (DT) and legs total defects (DPERT). For the traits P7, P30, P38, PA, PE, PPEI, PPER, RCAR, RPEI, RPER, EFAL statistics and genetic analysis done through classical linear models methodology, using the method of Restricted Maximum Likelihood (REML) under an animal model. Besides the classical linear model methodology, genetic analyzes for the traits DPER, DT and DPERT were done using generalized linear models with logit link, due to the categorical nature of these traits, using an animal and sire models, by the method of penalized quasilikelihood (PQL). Full analyzes were obtained using the ASREML® software. Estimates of heritability obtained for the traits varied from moderate to high, except for DT and DPERT, which heritability were low. Estimates of genetic correlations between performance and carcass traits and leg defects varied from moderate to high, except for DPER and EFAL, which presented low genetic correlations with performance characteristics of the carcass. Genetic trends for performance and carcass characteristics indicate that selection occurs for body weight at different ages and performance and carcass traits in this strain, in a different way to the observed for traits of DPER, DT and DPERT, which no evident selection in this line was observed.

Evolutionary innovations often arise from complex genetic and ecological interactions, which can make it challenging to understand retrospectively how a novel trait arose. In a long-term experiment, Escherichia coli gained the ability (Cit⁺ ) to utilize abundant citrate in the growth medium after ~31,500 generations of evolution. Exploiting this previously untapped resource was highly beneficial: later Cit⁺ variants achieve a much higher population density in this environment. All Cit⁺ individuals share a mutation that activates aerobic expression of the citT citrate:C₄-dicarboxylate antiporter, but this mutation confers only an extremely weak Cit⁺ phenotype on its own. To determine which of the other >70 mutations in early Cit⁺ clones were needed to take full advantage of citrate, we developed a Recursive Genome-Wide Recombination and Sequencing (REGRES) method and performed genetic backcrosses to purge mutations not required for Cit⁺ from an evolved strain. We discovered a mutation that increased expression of the dctA C₄-dicarboxylate transporter greatly enhanced the Cit⁺ phenotype after it evolved, implicating the intracellular supply of succinate or other C₄-dicarboxylates to be a critical factor for the expression of the phenotype. The activity level of citrate synthase (CS), encoded by the gltA gene, was also found to be important for Cit⁺. A mutation to gltA (gltA1) occurred before the evolution of Cit⁺ and led to an increase in CS activity by diminishing allosteric inhibition by NADH. This mutation was found to be deleterious for high-level citrate utilization, a situation that was remedied shortly after the evolution of Cit⁺ by the evolution of compensatory mutations to gltA which decreased CS activity. We speculate that the gltA1 mutation may have been important to 'potentiate' the evolution of a weak Cit⁺ phenotype by increasing succinate production via an upregulated glyoxylate pathway but that as cells became able to import succinate by virtue of the dctA mutation that this pathway became maladaptive, prompting this evolutionary reversal. Overall, our characterization of this metabolic innovation highlights the degree to which interactions between alleles shape the evolution of complex traits and emphasizes the need for novel whole-genome methods to explore such relationships.

Os defeitos de pernas são decorrentes do rápido crescimento das aves, tornando-se necessário um estudo genético das associações entre essas características. Os objetivos deste estudo foram estimar os parâmetros genéticos para defeitos de pernas por escore visual, discondroplasia tibial, características de desempenho e carcaça, assim como estimar as tendências genéticas, ganho genético potencial e respostas correlacionadas, em uma linhagem de frangos de corte. O banco de dados utilizado neste estudo foi composto por registros de 128.459 aves, com informações de pedigree, manejo, desempenho, qualidades e defeitos de carcaça pertencentes a um rebanho elite de uma linhagem comercial de frangos de corte sob seleção. As características estudadas foram: os pesos vivos do animal aos sete (P7), 30 (P30) e 38 dias de idade (P38), peso ao abate (PA), peso eviscerado (PE), peso de peito (PPEI), peso de pernas (PPER), rendimento de carcaça (RCAR), rendimento de peito em relação ao peso ao abate (RPEI), rendimento de pernas em relação ao peso ao abate (RPER), eficiência alimentar (EFAL), defeito de pernas por escore visual (DPER), discondroplasia tibial (DT) e defeito de pernas total (DPERT). Para as características P7, P30, P38, PA, PE, PPEI, PPER, RCAR, RPEI, RPER, EFAL as análises genéticas foram realizadas pela metodologia dos modelos lineares clássicos, utilizando o método da Máxima Verossimilhança Restrita (REML) sob um modelo animal. Além da metodologia dos modelos lineares clássicos, as análises genéticas para as características DPER, DT e DPERT foram realizadas utilizando modelos lineares generalizados com função de ligação logit, devido à natureza categórica destas características, empregando-se modelo animal e modelo pai, com o método da quasi-verossimilhança penalizada (PQL). As análises foram obtidas utilizando-se o software ASREML®. As estimativas de herdabilidades obtidas para as características estudadas variaram de moderadas a altas, exceto para DT e DPERT, para as quais as estimativas de herdabilidades foram baixas. As estimativas de correlações genéticas entre as características de desempenho e carcaça e defeitos de pernas variaram de moderadas a altas, exceto para DPER e EFAL que apresentaram baixas correlações genéticas com as características de desempenho carcaça. As tendências genéticas para as características de desempenho e carcaça são indicativas que há seleção para características de peso vivo em diferentes idades e de desempenho e carcaça nesta linhagem, diferente do que acontece para as características de DPER, DT e DPERT, para as quais não há seleção evidente nessa linhagem. / The legs defects are caused by rapid growth of broilers, therefore it is necessary to study of genetic associations between these traits. The objectives of this study were to estimate genetic parameters for legs defects by visual score, tibial dyschondroplasia, performance and carcass traits, and to estimate the genetic trends, potential genetic gain and correlated response in a broiler line. The database used in this study consisted of records from 128,459 birds, containing pedigree information, management, performance, qualities and defects, of an elite flock from a commercial strain of broiler chickens under selection. The traits studied were: the live weight at seven (P7), 30 (P30) and 38 days old (P38), slaughter weight (PA), carcass weight (PE), breast weight (PPEI), leg weight (PPER), carcass yield (RCAR), breast yield (RPEI), legs yield (RPER), feed efficiency (EFAL), legs defect by visual score (DPER), tibial dyschondroplasia (DT) and legs total defects (DPERT). For the traits P7, P30, P38, PA, PE, PPEI, PPER, RCAR, RPEI, RPER, EFAL statistics and genetic analysis done through classical linear models methodology, using the method of Restricted Maximum Likelihood (REML) under an animal model. Besides the classical linear model methodology, genetic analyzes for the traits DPER, DT and DPERT were done using generalized linear models with logit link, due to the categorical nature of these traits, using an animal and sire models, by the method of penalized quasilikelihood (PQL). Full analyzes were obtained using the ASREML® software. Estimates of heritability obtained for the traits varied from moderate to high, except for DT and DPERT, which heritability were low. Estimates of genetic correlations between performance and carcass traits and leg defects varied from moderate to high, except for DPER and EFAL, which presented low genetic correlations with performance characteristics of the carcass. Genetic trends for performance and carcass characteristics indicate that selection occurs for body weight at different ages and performance and carcass traits in this strain, in a different way to the observed for traits of DPER, DT and DPERT, which no evident selection in this line was observed.

No description available.