Cotton has been a world-wide economic staple in textiles and oil production. There has been a concerted effort for cotton improvement to increase yield and quality to compete with non-natural man-made fibers. Unfortunately, cultivated cotton has limited genetic diversity; therefore finding new marketable traits within cultivated cotton has reached a plateau. To alleviate this problem, traditional breeding programs have been attempting to incorporate practical traits from wild relatives into cultivated lines. This incorporation has presented a new problem: uncultivated cotton hampered by photoperiodism. Traditionally, due to differing floral times, wild and cultivated cotton species were unable to be bred together in many commercial production areas world-wide. This worldwide breeding problem has inhibited new trait incorporation. Before favorable traits from undomesticated cotton could be integrated into cultivated elite lines using marker-assisted selection breeding, the markers associated with photoperiod independence needed to be discovered. In order to increase information about this debilitating trait, we set out to identify informative markers associated with photoperiodism. This study was segmented into four areas. First, we reviewed the history of cotton to highlight current problems in production. Next, we explored cotton’s floral development through a study of floral transition candidate genes. The third area was an in-depth analysis of Phytochrome C (previously linked to photoperiod independence in other crops). In the final area of study, we used Genotype-By-Sequencing (GBS), in a segregating population, was used to determine photoperiod independence associated with single nucleotide polymorphisms (SNPs). In short, this research reported SNP differences in thirty-eight candidate gene homologs within the flowering time network, including photoreceptors, light dependent transcripts, circadian clock regulators, and floral integrators. Also, our research linked other discrete SNP differences, in addition to those contained within candidate genes, to photoperiodicity within cotton. In conclusion, the SNP markers that our study found may be used in future marker assisted selection (MAS) breeding schemas to incorporate desirable traits into elite lines without the introgression of photoperiod sensitivity.

Erythrocytes infected by mature forms of the Plasmodium falciparum parasite adhere to other components of the vascular space, a behavior considered critical to the pathogenesis of severe malaria. Adhesion is mediated by the P. falciparum erythrocyte membrane protein 1 (PfEMP1), a highly variant antigen expressed by the parasite and subject to switching during the course of an infection. The host ligands of PfEMP1 include CD36, ICAM-1 and the ABO antigens. By employing a series of population- and family-based association studies from multiple African populations, we examined whether variation in the genes underlying these molecules affects susceptibility to severe malaria. Our results suggest that a common frameshift mutation in the ABO glycosyltransferase, responsible for blood group O, is associated with protection from severe malarial phenotypes (P=2x10⁻⁷), particularly severe malarial anaemia. However, we found no significant disease associations with variation in either the ICAM1 or CD36 genes. We focused on two particular functional polymorphisms, the missense ICAM-1Kilifi and the CD36 nonsense mutation T1264G. We genotyped both markers in around 10,000 individuals, but neither demonstrated an association with severe malarial phenotypes. Malaria has been a profound selection pressure shaping human genetic diversity. The last decade has seen the development of several haplotype-based methods to detect signatures of recent positive evolutionary selection. These techniques are potentially invaluable tools in our hunt for genetic variants that protect from life threatening malaria. We used simulations and empirical data from the International HapMap Project to demonstrate the validity of searching for long regions of haplotype homozygosity, as an approach to finding alleles undergoing selective sweeps. We analysed genetic data from a range of populations, particularly those utilized by HapMap, to investigate whether our candidate genes were associated with signals of recent positive selection. We characterized the distribution of a selection event associated with the CD36 1264G allele, focused in Central-West Africa, and demonstrated a novel signal of low population differentiation at the ABO gene, suggestive of longstanding balancing selection. Our work confirms that variation in the host ligands of PfEMP1 modulates severe malaria susceptibility, and highlights the value of using signals of selection, along with functional experiments and genetic association studies, to dissect the biology of severe malaria.

O feijão comum é uma das principais culturas agrícolas produzidas e consumidas no Brasil e no mundo. Por isso, várias iniciativas de pesquisa buscam dar subsídios ao melhoramento da cultura, que visa a desenvolver cultivares mais produtivos e tolerantes a estresses biótico e ábiótico, além de agregar valor nutricional e tecnológico aos grãos. Nesse cenário, no presente estudo, buscou-se identificar, a partir da abordagem de mapeamento associativo, regiões genômicas envolvidas no controle de caracteres agronômicos e no teor de macro e micronutrientes em grãos de feijão comum. Para tanto, um painel de acessos e linhagens foi (i) genotipado por sequenciamento, cujos dados perdidos foram imputados; (ii) e fenotipados para 5 caracteres agronômicos e para o teor de 13 nutrientes, em duas condições experimentais - campo e casa de vegetação. A partir da informação genotípica, foram investigados (i) a estrutura populacional, (ii) o grau de parentesco e (iii) a extensão do desequilíbrio de ligação (DL). Para as análises fenotípicas, foi utilizada a abordagem de modelos mistos. Finalmente, o mapeamento associativo foi realizado utilizando o modelo FarmCPU. Um total de 35.527 e 9.388 SNPs, com MAF ≥ 0,05, distribuídos ao longo dos 11 cromossomos de P. vulgaris, foi obtido considerando os limites de 80 e 10% de dados perdidos, respectivamente. A análise da estrutura populacional e as estimativas de parentesco permitiram evidenciar a clara distinção entre os acessos oriundos de pools gênicos diferentes. Tais fatores influenciaram fortemente a extensão do DL; portanto, medidas que corrigem para estes vieses foram adotadas e possibilitaram a constatação de que os maiores blocos genômicos em DL estão contidos nas regiões centroméricas e pericentroméricas dos cromossomos. Igualmente, foi detectado DL entre locos de cromossomos diferentes, sugerindo que o processo de melhoramento e o sistema de cruzamento da espécie contribuem para a magnitude do DL em feijão, uma vez que os vieses decorrentes da estrutura populacional e do parentesco foram corrigidos. Considerando os fenótipos avaliados, o painel aqui utilizado apresentou maior variabilidade fenotípica para os caracteres agronômicos \'dias para o florescimento\' (DPF), \'dias para formação do legume\' (DPFL), \'número de legumes por planta\' (NLPP), \'número de sementes por legume\' (NSPL) e \'massa de 100 grãos\' (M100), e para o teor dos nutrientes cobre (Cu), ferro (Fe) e zinco (Zn) presentes nos grãos. A partir do mapeamento associativo, foram identificados 176 SNPs associados aos caracteres agronômicos e teores de macro e micronutrientes. Destes, 112 estão localizados em regiões gênicas - exons (71), introns (29), 5\'-UTR (5) e 3\'-UTR (7). Logo, tais polimorfismos, principalmente aqueles localizados em exons ou próximos a locos, como o Ppd, tradicionalmente apontado como envolvido no controle de DPF, são fortes candidatos para explicar as alterações fenotípicas observadas. Os demais 64 SNPs estão localizados em regiões inter-gênicas, em porções do cromossomo nas quais a extensão do DL pode chegar a mais de 1 Mb. Portanto, é válido recomendar a investigação da região em DL que flanqueia o SNP na busca de genes associados ao controle da variação fenotípica. / Common bean is an important crop produced and consumed in Brazil and worldwide. Several research initiatives have been set up to implement breeding programs for developing more productive cultivars tolerant to biotic and abiotic stresses, and improving nutritional and technological grain quality. Therefore, the aim of this study was to use association mapping in order to identify the genomic regions controlling agronomic traits and the content of macroand micronutrients in common bean. A panel of accessions and lines was (i) genotyped by sequencing, with imputed missing data; (ii) and phenotyped for five agronomic traits and 13 grain nutrients content under two sets of experimental conditions (field and greenhouse). The genotypic information provided a basis for investigating (i) population structure, (ii) kinship and (iii) the extent of linkage disequilibrium (LD). Mixed models were used for predicting phenotypic means. Finally, association mapping was performed using the FarmCPU model. A total of 35,527 and 9,388 SNPs (MAF ≥ 0.05) distributed over the 11 chromosomes of P. vulgaris was obtained based on two missing data thresholds (80 and 10%). Population structure and kinship analysis highlighted the distinction between accessions from different gene pools. These factors strongly influenced the extent of LD. Measures to correct these biases indicated that the major LD genomic blocks were located within centromeric and pericentomeric regions. In addition, high LD was detected between loci from different chromosomes, suggesting that the breeding process and autogamy also influence LD in common bean, given that the bias resulting from population structure and kinship were corrected. The panel used exhibited high phenotypic variability for the following agronomic traits: \'days to flowering\' (DTF), \'days to pod formation\' (DTPF), \'number of pods per plant\' (NPPP), \'number of seeds per pod\' (NSPP) and \'mass of 100 grains\' (M100); and the following grain nutrient contents: copper (Cu), iron (Fe) and zinc (Zn). A total of 176 SNPs were identified by association mapping, 112 located in gene regions - exons (71), introns (29), 5\'-UTR (5) and 3\'-UTR (7). Such polymorphisms, especially those within exons or near loci as Ppd, traditionally considered to be involved in DTF control, are strong candidates for providing an elucidation of phenotypic variability. The remaining 64 SNPs were located in intergenic regions, in which the DL decays over 1 Mb. It would therefore be worth investigating LD in the region flanking the SNPs for genes associated with phenotypic variation.

Les strongles gastro-intestinaux, dont Haemonchus contortus constituent un problème majeur pour l'élevage des ovins allaitants. Ils entrainent des pertes de production et le recours aux anthelminthiques est remis en question par l'apparition de souches de vers résistantes. La sélection d'ovins plus résistants fait partie des stratégies complémentaires de lutte les plus sérieuses. Cependant sa mise en oeuvre requiert une meilleure compréhension des mécanismes sous-jacents. Cette thèse vise à identifier les régions du génome ovin impliquées dans la résistance aux strongles gastro-intestinaux. Une analyse statistique d'association entre des marqueurs génétiques et des mesures de résistance d'un troupeau d'ovins croisés Martinik Black-belly x Romane a mis en évidence un nombre limité de régions d'intérêt. Parmi celles-ci, un segment du chromosome 12 a été choisi pour effectuer des accouplements raisonnés et valider son rôle dans la résistance à H. contortus. L'effet de cette région a été validé chez les descendants issus d'accouplements assistés par marqueurs génétiques. Cette région semble limiter fertilité des vers femelles tout en contribuant à une réponse immunitaire plus forte. Le rôle d'une région du chromosome 21 dans la variation de concentration plasmatique en pepsinogène, un marqueur de lésions abomasales, a également été confirmé. Un gène candidat sous-jacent est en cours de séquençage et l'analyse des polymorphismes devrait contribuer à la validation de son rôle. Deux autres gènes très proches pourraient également être impliqués et mériteraient une considération future. Ces travaux illustrent à la fois la variation génétique disponible pour les caractères de résistance à H. contortus et la complexité des mécanismes mis en jeu. Des études complémentaires de séquençage et d'étude d'expression par séquençage devrait contribuer à une meilleure compréhension des fonctions des gènes impliqués et de leurs interactions. / Gastro-intestinal nematodes, among which Haemonchus contortus are a major threat to the meat sheep industry. They are responsible for production losses and the apparition of worm populations resistant to drugs limits their use as worm control strategy. Breeding more resistant sheep is among the most practicable alternative strategy. However its implementation requires a deeper understanding of underlying mechanisms. This PhD aims at identifying regions of the ovine genome affecting resistance to gastro-intestinal nematodes. A statistical analysis of existing associations between genetic markers and resistance traits of a Martinik Black-belly x Romane cross-bred sheep flock unraveled a limited number of key players. Among these, a fragment of the chromosome 12 was chosen to perform marker-assisted matings and to validate its role in resistance to H. contortus. The effect of this region was validated in the progenies born from matings. It seems this chromosomic fragment limits female worms fertility and is associated to a stronger immune response. The putative role played by a fragment of the chromosome 21 in plasmatic pepsinogen concentration (a biomarker of abomasal lesions) was also confirmed in this work. A candidate gene underlying this region has been sequenced and the analysis of the detected polymorphisms should confirm its role. Further, two other genes in its vicinity could also play a role in this biological phenomenon and they should also deserve future considerations. This work illustrated both the existing genetic variation for resistance to H. contortus and the associated complexity of underlying mechanisms. Additional sequencing and gene expression sequencing studies should help understanding gene functions and interactions.

Bisherige Methoden der Haplotyp-Block-Definition zielen entweder auf abwesende Rekombinationsereignisse oder eine effiziente Beschreibung genomischer Variation. Die vorliegende Arbeit definiert Blöcke von Single Nucleotide Polymorphisms (SNP) als Gebiete erhöhten Kopplungsungleichgewichtes (LD). Für dieses Ziel wird ein neues, entropie-basiertes Maß für LD zwischen multiplen Markern/Loci (Normalized Entropy Difference) entwickelt und als eine Multilocus-Erweiterung des paarweisen Maßes r2 charakterisiert. Ein zugehöriger Algorithmus für die Block-Definition wird vorgeschlagen. Seine Evaluierung an einem Datensatz des menschlichen Chromosoms 12 vom Internationalen Haplotype Map Projekt zeigt die Nützlichkeit der abgeleiteten Blöcke in Hinblick auf verschiedene Eigenschaften, einschließlich ihrer chromosomalen Coverage und der Anzahl sowie des Anteils der häufigen Block-Haplotypen. Der wesentliche Einfluß der SNP-Dichte auf die zu entdeckenden LD- und Blockstrukturen wird demonstriert. Der Erfolg von Assoziationsstudien in komplexen Erkrankungen mit Block-Haplotypen als multiallelischen Markern wird davon abhängen, ob die Common Variants/Common Diseases (CV/CD) Hypothese für solche Erkrankungen erfüllt ist. / Current approaches to haplotype block definition target either absent recombination events or the efficient description of genomic variation. This thesis aims to define blocks of single nucleotide polymorphisms (SNP) as areas of elevated linkage disequilibrium (LD). To this end, a new entropy-based measure for LD between multiple markers/loci, the Normalized Entropy Difference, is developed and is characterized as a multilocus extension of the pairwise measure r2. A corresponding algorithm for the block definition is proposed. Its evaluation on a data set of human chromosome 12 from the International Haplotype Map project proves the usefulness of the derived blocks with respect to several features, including their chromosomal coverage and the number and portion of common block haplotypes. The critical role of the SNP density for detectable LD and block structure is demonstrated. The success of association studies in common diseases with block haplotypes serving as multi-allelic markers will depend on whether the Common Variants/Common Diseases (CV/CD) hypothesis holds true for those diseases.

The population of northern Sweden has previously been shown to be well suited for the mapping of monogenic diseases. In this thesis we have tested the hypothesis that this population could also be used for efficient identification of risk genes for common diseases. In Paper I we have hypothesised that despite the admixture of Swedish, Finnish and Sami, the northern Swedish population consists of sub-populations geographically restricted by the main river valleys running through the region. This geographic isolation, in combination with founder effects and genetic drift, could represent a unique resource for genetic studies. On the other hand, it also underlines the importance of accounting for this e.g. in genetic association studies. To test this hypothesis, we studied the patterns of marriage within and between river valley regions and compared allelic frequencies of genetic markers between these regions. The tendency to find a spouse and live in the river valley where one was born is strong, and allelic frequencies of genetic markers vary significantly between adjacent regions. These data support our hypothesis that the river valleys are home to distinct sub-populations and that this is likely to affect mapping of genetic diseases in these populations. In Paper II, we tested the applicability of the population in mapping HSAN V, a monogenic disease. This disease was identified in only three consanguineous individuals suffering from a severe loss of deep pain perception and an impaired perception of heat. A genome-wide scan combined with sequencing of candidate genes resulted in the identification of a causative point mutation in the nerve growth factor beta (NGFB) gene. In Paper III, a large family with multiple members affected by familial forms of type 1 diabetes mellitus (T1DM) and autoimmune thyroiditis (AITD) was studied. This syndrome was mapped to the IDDM12 region on 2q33, giving positive lodscores when conditioning on HLA haplotype. The linkage to HLA and to the IDDM12 region thus confirmed previous reports of linkage and/or association of T1DM and AITD to these loci and provided evidence that the same genetic factors may be mediating these diseases. This also supported the feasibility of mapping complex diseases in northern Sweden by the use of familial forms of these diseases. In Paper IV, we applied the same approach to study type 2 diabetes mellitus (T2DM). A non-parametric genome-wide scan was carried out on a family material from northern Sweden, and linkage was found to the calpain-10 locus, a previously described T2DM-susceptibility gene on 2q37. Together, these findings demonstrate that selecting for familial forms of even complex diseases, and choosing families from the same geographical region can efficiently reduce the genetic heterogeneity of the disease and facilitate the identification of risk genes for the disease.

In dieser Arbeit wird eine neue Methode für den skalenunabhängigen Vergleich von LD-Strukturen in unterschiedlichen genomischen Regionen vorgeschlagen. Verschiedene Aspekte durch Skalen verursachter Probleme – von der Präzision der Schätzung der Marke-reffekte bis zur Genauigkeit der Vorhersage für neue Individuen - wurden untersucht. Darüber hinaus, basierend auf den Leistungsvergleichen von unterschiedlichen statistischen Methoden, wurden Empfehlungen für die Verwendungen der untersuchten Methoden gege-ben. / In dieser Arbeit wird eine neue Methode für den skalenunabhängigen Vergleich von LD-Strukturen in unterschiedlichen genomischen Regionen vorgeschlagen. Verschiedene Aspekte durch Skalen verursachter Probleme – von der Präzision der Schätzung der Marke-reffekte bis zur Genauigkeit der Vorhersage für neue Individuen - wurden untersucht. Darüber hinaus, basierend auf den Leistungsvergleichen von unterschiedlichen statistischen Methoden, wurden Empfehlungen für die Verwendungen der untersuchten Methoden gegeben

Cette thèse s’inscrit dans le contexte de la biologie de l’invasion de la chrysomèle des racines du maïs, Diabrotica virgifera virgifera (Dvv), en Europe. Les introductions multiples de cette peste sur le vieux continent à partir des années 1990 et en provenance des États-Unis ont conduit à la formation de plusieurs foyers envahissants dont deux principaux, différenciés génétiquement et situés en Italie du Nord-Ouest (Italie NO) et en Europe Centrale et du Sud-Est (Europe CSE). Ces deux foyers sont entrés en contact en 2008, en Italie du Nord, dans la région de la Vénétie. L’objectif principal de ces trois années de recherche était de détecter, d’étudier et de documenter un cas précis d’hybridation au cours d’une invasion biologique. Dans un premier temps, j'ai montré que la zone de contact détectée en Vénétie résultait bien en une zone hybride. Pour cela plusieurs types d’analyses de génétique des populations ont été réalisés à l’aide de marqueurs micro-satellites. Dans un second temps, j'ai exploité cette zone hybride et utilisé la théorie des clines neutres et le déséquilibre de liaison pour estimer la dispersion (σ) de Dvv en Italie du Nord aux alentours de 20 km.génération−1/2. Enfin j'ai montré l’absence d'impact de l’hybridation au cours de l’invasion européenne de Dvv in natura, en mesurant sur des génotypes hybrides et parentaux, de nombreux traits phénotypiques positivement liés à la fitness des individus. Ainsi, une sélection ou contre sélection des hybrides est à exclure dans ce cas précis d’hybridation et la dynamique de l’invasion de cette peste en Europe ne devrait être affectée en aucune façon. / This thesis deals with the invasion biology of the western corn rootworm, (WCR) in Europe. Multiple introductions of this pest in Europe from the United States and the 90’s, led to the formation of two main invasive outbreaks, genetically differentiated and located in Northwest Italy (NW Italy) and in Central and South-Eastern Europe (CSE Europe). Both outbreaks converged towards each other and came into contact in 2008, in the region of Veneto (Northern Italy). The main objective of these three years of research was to detect study and document a precise case of hybridization during a biological invasion. First of all, I showed that the contact zone detected in Veneto results in a hybrid zone. For that, several types of population genetics analyses were performed using microsatellite markers. In a second time, I exploited this hybrid zone and used the theory of neutral clines and the linkage disequilibrium to estimate dispersal (σ) of WCR in Northern Italy around 20 km.generation-1/2. Finally I showed the absence of impact of hybridization in the european invasion of WCR in natura, by measuring on hybrid and parental genotypes, numerous phenotypic traits positively associated to the fitness of individuals. Thus, a selection or a selection against hybrids is excluded in this particular case of hybridization and the invasion dynamics of WCR in Europe should not be affected in any way.

Made available in DSpace on 2014-07-29T14:52:11Z (GMT). No. of bitstreams: 1 Tese_ADILSON santos.pdf: 8026419 bytes, checksum: d59ad1a2514d62fabb78f8c2501b3bfc (MD5) Previous issue date: 2010-03-29 / Recombination is one of the most important factors in the evolution of genome organization. It provides the links between homologous chromosomes that ensure their proper segregation during the first meiotic division. It is responsible for the creation of novel allele combinations and yields genetic diversity on which evolutionary selection can act. Double-strand DNA breaks (DSB) initiate meiotic recombination and when the 3 terminus of one of the broken strands invades the unbroken DNA molecule and primes DNA synthesis a double Holliday junction must be resolved through some alternative pathways. When homologous chromosomes exchange genetic material with each other, an event of recombination or a crossover takes place, which may be seen through chiasma. Citological, genetics, and molecular studies in many organisms have demonstrated that crossovers have a non homogeneous distribution across chromosomes, and rather concentrated in relative small DNA fragments usually called recombination hotspots. In searching for genomic features associated with recombination hotspots a model fitted to human genome data explained 42% of recombination rate variation in a 5 mega base pairs scale. Despite the fact that genomes of some plant species have been already sequenced, up to this moment, no research has been published concerning a high resolution characterization of recombination rate variation across a plant s genome. This study used OH- radical cleavage intensity estimates and sequence data of chromosome 4 of A. thaliana and population genetic data from a public set of 250 thousand SNP genotypes obtained for 362 A. thaliana accessions to: i) characterize the recombination rate and linkage disequilibrium (LD) distributions across the chromosome 4 in different scales; ii) search for recombination hotspots; iii) evaluate probable associations between sequence motifs and genomic features with recombination hotspots. The results have shown that the distribution of recombination events across chromosome 4 of A. thaliana is very concentrated: 50% to 60% of all recombination events spans in only 13% to 20% of the total length of the chromosome. Genomic features as G+C percent (G+C%) and OHradical cleavage intensity showed important associations with LD estimates in several scales. The mean OH- radical cleavage intensity and G+C% showed redundancy in correlation analysis with LD and recombination rates. Artificial strong and statistically significant correlations arose from the usage of sliding windows. DNA fragments considered as hotspots lay preferentially in the middle third of the chromosome, while those characterized for having long range LD decay are most localized in the two distal thirds of the chromosome. / A recombinação é um processo chave na evolução da organização dos genomas das espécies, importante para garantir a segregação adequada dos cromossomos homólogos durante a meiose I e criar novas combinações de alelos, gerando variabilidade genética para a ação da seleção natural. Do ponto de vista molecular, a recombinação é iniciada por uma lesão na fita dupla de DNA, denominada Double-Strand Break (DSB), seguida da formação de uma junção dupla de Holliday (dHJ), a qual é resolvida por vias alternativas. Quando há troca de material genético entre os cromossomos homólogos caracteriza-se a ocorrência de um evento de recombinação, crossover, visualizado citogeneticamente por meio de um quiasma. Estudos citológicos, genéticos e moleculares realizados em vários organismos demonstraram que a distribuição de crossover ao longo dos cromossomos não é regular, mas concentrada em fragmentos relativamente pequenos de DNA, denominados hotspots de recombinação. Na busca por correlações entre a distribuição de elementos genômicos e a de ocorrência de hotspots um modelo ajustado com dados do genoma humano se mostrou capaz de explicar até 42% da variação na taxa de recombinação, numa escala de 5 mega pares de bases. Em plantas, apesar da existência de vários genomas já sequenciados nenhum trabalho nesse sentido ainda foi realizado, pelo menos na ordem de resolução proporcionada pela recente disponibilidade de dados genéticos obtidos com o uso de chips de alta densidade de marcas SNP. Usando dados genéticos de populações, obtidos por genotipagem de 362 acessos de A. thaliana com 250 mil marcas SNP, estimativas da intensidade de clivagem por radical OH- e dados da sequência de nucleotídeos do cromossomo 4 de A. thaliana o presente trabalho propõe-se a: i) caracterizar a distribuição de taxas de recombinação e de desequilíbrio de ligação ao longo do cromossomo 4, em várias escalas; ii) identificar fragmentos hotspots de recombinação; e iii) identificar elementos genômicos com provável associação à ocorrência desses hotspots. Os resultados obtidos mostraram que a distribuição das taxas de recombinação ao longo do cromossomo 4 de A. thaliana é bastante concentrada, pois proporções entre 50% e 60% dos eventos de recombinação ocorrem em apenas 13% a 20% da sequência de DNA. Variáveis genômicas como a porcentagem da soma das bases G e C (G+C%) e a intensidade de clivagem por radical OH- apresentam correlações significativas com as estimativas do desequilíbrio de ligação em várias escalas. A média da intensidade de clivagem por radical OH- proporciona informação redundante com a variável G+C%. O uso de janelas deslizantes sobrepostas gera distroções que provocam o surgimento artificial de correlações fortes e significativas. Os fragmentos hotspots de recombinação têm uma distribuição concentrada no terço médio do cromossomo, enquanto os fragmentos caracterizados por longo alcance do desequilíbrio de ligação estão localizados, predominantemente, nos terços distais.

Submitted by Luciana Ferreira (lucgeral@gmail.com) on 2017-04-18T14:36:39Z No. of bitstreams: 2 Tese - Odilon Peixoto de Morais Júnior - 2016.pdf: 4169553 bytes, checksum: 1841a99cece6656c30b62fbd8fda9da5 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) / Approved for entry into archive by Luciana Ferreira (lucgeral@gmail.com) on 2017-04-18T14:36:54Z (GMT) No. of bitstreams: 2 Tese - Odilon Peixoto de Morais Júnior - 2016.pdf: 4169553 bytes, checksum: 1841a99cece6656c30b62fbd8fda9da5 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) / Made available in DSpace on 2017-04-18T14:36:54Z (GMT). No. of bitstreams: 2 Tese - Odilon Peixoto de Morais Júnior - 2016.pdf: 4169553 bytes, checksum: 1841a99cece6656c30b62fbd8fda9da5 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Previous issue date: 2016-12-15 / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPES / Genetic gains for quantitative traits associated with the maintenance of genetic variability are important factors in recurrent selection programs. With advances in the area of statistical genomics, selection strategies potentially faster to achieve genetic gains are being developed, such as genomic selection. Using a subtropical population of irrigated rice (CNA12S), conducted during three cycles of recurrent selection, this study had as general objective to evaluate the potential of use of genomic recurrent selection (GRS) in a rice breeding program. Three specific studies were developed. In the first chapter, the efficiency of the genotypic recurrent selection (RS) used in the Embrapa’s rice breeding program was evaluated, in order to obtain genetic gains and maintain the population genetic variability. Ten yield trials of S1:3 progenies were used in the analyses. The evaluated traits were grain yield, plant height and days-to-flowering. Variance and covariance components were obtained using Bayesian approach. Using single nucleotide polymorphisms (SNP) markers, the population diversity and genetic structure also were estimated. Adjusted means of progenies in each cycle were computed and, genetic progress was estimated by generalized linear regression using frequentist approach. The magnitudes of effective population size and genetic variance indicated maintenance of genetic variability over selection cycles. The genetic progress achieved for grain yield was 760 kg ha-1 per cycle (1.95% per year), and for days-to-flowering, it was -6.3 days per cycle (-1.28% per year). It was concluded that the genetic progress already achieved and the genetic variability available in the population demonstrate the efficiency of RS in the improvement of rice populations. In the second chapter, in the context of genomic selection, the relative efficiency of GRS on RS was assessed, as well as the accuracy of different models of genomic prediction, in order to propose a GRS scheme for population breeding of self-pollinating species such as rice. In this study, the genetic material was the S1:3 progenies yield trial of the third selection cycle. From a group of 196 progenies that were phenotyped for eight traits with different heritabilities and genetic architectures, a group of 174 progenies was genotyped for SNP markers. Ten predictive models were fitted to the data set. The proposed GRS scheme, when compared to the RS method, showed higher efficiency, especially in genetic gain per unit of time. From the predictive models assessed, HBLUP (hybrid best linear unbiased prediction, using hybrid relationship matrix based in pedigree and SNP markers) and RForest (random forest) have greater potential for genomic prediction in irrigated rice, given the high accuracy of their predictions for a number of traits. The HBLUP model was notoriously superior for more complex traits, such as grain yield, while RForest stood out for less complex traits. The high extent of linkage disequilibrium in the population suggests that the marker density employed (approximately one SNP per 60 kb) is enough for the practice of genomic selection in populations with similar genetic structure. In the third chapter, the objective was to extend a class of HBLUP models based on reaction norm, in context of multi-environmental trials with genotype x environment interaction, for accommodation of hybrid genetic relationship and information of the assessed environments. The accuracy of alternative models for multi-environmental predictions was evaluated, as well as the relative importance of structures of additive and multiplicative components, using genetic relationship information and environmental covariates. This strategy allowed to evaluate the influence of different approaches to group the genetic-environmental information on the accuracy of models for prediction of breeding value of progenies for agronomic traits. The data consisted of the same ten trial of S1:3 progenies, carried out during three recurrent selection cycles. Six predictive HBLUP models of reaction norm were considered, using genetic and environmental covariates, as well as interactions between these effects. Genomic information was derived from SNP markers obtained for the 174 progenies of the third selection cycle. The 401 environmental covariates, the genetic information (hybrid genetic relationship) and the interactions among these effects explained an important portion of the phenotypic variance, allowing an increase in the predictive accuracy of models. The use of genetic information and environmental covariates only from the respective selection cycle is enough for accurate predictions of unphenotyped progenies, even in non-sampled environments. This is the first study to take into account simultaneously hybrid genetic relationship, stemming from pedigree information plus SNP markers, and environmental covariates in multi-environmental models based on reaction norm for breeding value prediction in target environments of a recurrent selection program. / A obtenção de ganhos genéticos para caracteres quantitativos associada à manutenção da variabilidade genética são fatores importantes em programas de seleção recorrente. Com os avanços no campo da estatística genômica, estratégias de seleção potencialmente mais rápidas para alcance de ganhos genéticos estão sendo desenvolvidas, como a seleção genômica. Partindo-se de uma população subtropical de arroz irrigado (CNA12S), conduzida durante três ciclos de seleção recorrente, este estudo teve como objetivo geral avaliar o potencial de emprego do esquema de seleção recorrente genômica (GRS) em programas de melhoramento genético de arroz. Três estudos específicos foram desenvolvidos. No primeiro deles, avaliou-se a eficiência do esquema de seleção recorrente genotípica (RS) utilizado no programa de melhoramento de arroz da Embrapa, na obtenção de ganhos genéticos e manutenção da variabilidade genética populacional. O material experimental utilizado constituiu-se de dez ensaios de rendimento de progênies S1:3 associadas a cada ciclo de seleção. Os caracteres avaliados foram produtividade de grãos, altura de planta e número de dias até o florescimento. Componentes de variância e covariância foram obtidos via abordagem Bayesiana e, com uso de marcadores SNP (single nucleotide polymorphisms) associados às progênies, também a diversidade e a estrutura genética populacional. Médias ajustadas de progênies em cada ciclo foram computadas e, por regressão linear generalizada, estimou-se o progresso genético, via abordagem frequentista. As magnitudes do tamanho efetivo populacional e da variância genética indicaram manutenção da variabilidade genética ao longo dos ciclos de seleção. O progresso genético alcançado para produtividade de grãos foi de 760 kg ha-1 por ciclo (1,95 % ao ano) e para dias para florescimento, -6,3 dias por ciclo (-1,28 % ao ano). Concluiu-se que, o progresso genético já alcançado e a variabilidade genética disponível na população demonstram a eficiência de RS no melhoramento de populações de arroz. Num segundo estudo, no contexto de seleção genômica, avaliou-se a eficiência relativa de GRS sobre o esquema de RS; além da acurácia de diferentes modelos de predição genômica, buscando-se propor um esquema de GRS para melhoramento populacional de espécies autógamas como o arroz. Nesse estudo, o material genético foi composto por um ensaio de rendimento de progênies S1:3 do terceiro ciclo de seleção. Do grupo de 196 progênies fenotipadas para oito caracteres, com herdabilidades e arquiteturas genéticas diferentes, um grupo de 174 progênies foi genotipado para marcadores SNP. Dez modelos preditivos foram ajustados ao conjunto de dados. O esquema de GRS, quando comparado ao de RS, apresentou maior eficiência, sobretudo em ganho genético por unidade de tempo. Dos modelos preditivos avaliados, HBLUP (hybrid best linear unbiased prediction, com uso de matriz híbrida de parentesco baseada em pedigree e marcadores SNP) e RForest (random forest) apresentaram maior potencial para predição genômica, haja vista a elevada acurácia de suas predições para maior número de caracteres. O modelo HBLUP foi notoriamente superior para caracteres mais complexos, como produtividade de grãos, enquanto RForest destacou-se para caracteres menos complexos. A alta extensão do desequilíbrio de ligação na população sugere que a densidade de marcadores empregada (aproximadamente um SNP por 60 kb) é suficiente para a prática de predição genômica em populações com estrutura genética similar. No terceiro estudo buscou-se estender uma classe de modelos preditivos HBLUP baseados em norma de reação (contexto de ensaios multiambientais com interação genótipos × ambientes), para acomodar informações de parentesco e de covariáveis associadas aos ambientes de avaliação. Assim, avaliouse a acurácia preditiva de modelos alternativos para predições multiambientais, bem como a importância relativa de estruturas de componentes aditivos e multiplicativos; além da influência de diferentes abordagens de agrupamento de informações genético-ambientais sobre a acurácia dos modelos. O material genético constituiu-se nos mesmos dez ensaios de rendimento de progênies S1:3, conduzidos durante três ciclos de seleção recorrente. Foi considerada uma sequência de seis modelos preditivos de norma de reação, do tipo HBLUP, com uso de covariáveis genéticas e ambientais, além de interações entre esses efeitos. A informação genômica foi proveniente de marcadores SNP obtidos por genotipagem de 173 progênies do terceiro ciclo de seleção. As covariáveis ambientais (num total de 401), informações genéticas (parentesco híbrido) e as interações entre esses efeitos explicaram importante porção da variância fenotípica, o que possibilitou aumento da acurácia preditiva dos modelos. O emprego de informações genéticas e de covariáveis ambientais apenas do respectivo ciclo de seleção mostrou-se suficiente para predições acuradas do desempenho de progênies não fenotipadas, mesmo em ambientes não amostrados. Este estudo é pioneiro em considerar conjuntamente parentesco híbrido, oriundo de informações de pedigree mais marcadores SNP, e covariáveis ambientais em modelos multiambientais baseados em norma de reação, para predição de valor genético em ambientes-alvo de programas de seleção recorrente.