Master of Science / Division of Biology / Michael A. Herman / Caenorhabditis elegans are free-living bacterivorous nematodes that naturally consume bacteria as food source. As an excellent genetic model, C. elegans has proven to be a successful system to study innate immune responses to human pathogens, which resulted in identification of many evolutionarily conserved defense pathways. Most of these studies examined innate immune pathway mutants in a single genetic background in response to monoculture of human pathogens that worms might not necessarily encounter in the wild. While this has led to the successful genetic dissection of these defense pathways, in order to fully understand their biological functions, the relevant ecological and evolutionary context needs to be taken into account. The bacterial environment C. elegans naturally encounter is likely to be highly heterogeneous. While many bacteria are mainly considered as dietary resource for worms, some could be potential pathogens. Worms thus constantly face the challenge to defend against the pathogens mixed in the food. Stenotrophomonas maltophilia is one such bacterium. S. maltophilia is a ubiquitous bacterium that has been found associated with native nematodes. But it can also cause nosocomial infections in human, especially in immune-compromised individuals. Due to its natural resistance to multiple antibiotics, it has been emerging as an opportunistic human pathogen. Our lab isolated a S. maltophilia strain, JCMS, which was found being pathogenic to C. elegans. Both C. elegans strains, N2 (Bristol, England) and CB4856 (Hawaii), showed decreased survivorship when fed on S. maltophilia JCMS compared to E. coli OP50. However, more interestingly, the specific responses towards bacteria are different between strains. This indicates that survivorship of C. elegans is determined by not only genetic and environmental factors, but also genotype by environment (G×E) interactions (GEI). In order to identify the underlying genetic basis, we mapped quantitative trait loci (QTL) in a N2×CB4856 recombinant inbred panel for the survivorship in response to E. coli OP50 and S. maltophilia JCMS.

Este estudo teve por objetivo mapear QTLs para características de desempenho e de carcaça em Gallus gallus . Foram estudadas 350 aves F2 oriundas de um cruzamento, na primeira geração, de machos de corte da linhagem TT com fêmeas de postura da linhagem CC. O peso vivo com 1, 35 e 42 dias de idade; o ganho de peso, o consumo de ração e a conversão alimentar de 35 a 41 dias de idade; os pesos dos pulmões, fígado, coração, moela, peito, coxas (peso de coxas e sobre-coxas), carcaça (sem vísceras, pés e cabeça), carcaça residual (peso da carcaça sem peito, asas e coxas), asas, cabeça, pés e gordura abdominal; o comprimento do intestino e o percentual de hematócrito, foram os fenótipos analisados. Foram utilizados 79 marcadores microssatélites, os quais cobriram 1510,7 cM dos cromossomos 1, 2, 3, 4, 5, 8, 11 e 13. Primeiramente, foram realizadas análises isoladas de cada fenótipo original e de variáveis canônicas obtidas por análise de componentes principais dos fenótipos. O teste razão de verossimilhanças (LRT) entre um modelo incompleto (apenas com efeitos fixos de sexo, incubação e o efeito aleatório de valor genético infinitesimal) e um completo (todos os efeitos anteriores mais os efeitos de QTL) foi o procedimento utilizado nas análises, exceto para testar modelos com interações epistáticas, onde a metodologia de quadrados mínimos foi utilizada. Modelos com interação QTL x sexo também foram testados. Posteriormente, foram feitas análises de múltiplos fenótipos simultaneamente, onde foi possível testar a hipótese de QTL pleiotrópico x QTLs ligados, além dos testes descritos acima, com exceção de efeitos epistáticos. As análises descritivas e de componentes principais foram obtidas no SAS, enquanto o mapeamento de QTL foi realizado no programa QxPak, exceto para análise de efeitos epistáticos, em que um código em Fortran 90 foi empregado. O modelo univariado, sem interações, permitiu mapear oito QTLs altamente significativos (cinco no GGA1 para PV35, PV42, gordura abdominal, comprimento do intestino e peso da cabeça; dois QTLs no GGA2 para PV35 e PV42; e um QTL no GGA3 para gordura abdominal) seis significativos (dois no GGA1 para conversão alimentar e ganho de peso; dois no GGA3 para peso das asas e das coxas; um no GGA4 para peso da cabeça; e um no GGA8 para peso da moela), além de 13 ligações sugestivas para diversas características. Dez QTLs apresentaram interação com sexo, sendo cinco específicos para machos. O modelo com busca simultânea de dois QTLs mapeou seis QTLs anteriormente perdidos (cinco para PV35 e PV42; e um para peso da cabeça). Interações epistáticas foram observadas para PV35 e PV42 entre um QTL em 69 cM do GGA1 com QTLs em 333 cM do GGA1, 272 cM do GGA3 e 77 cM do GGA5. Dois QTLs e seis ligações sugestivas foram mapeados na análise de variáveis canônicas, os quais não haviam sido mapeados com as variáveis originais. Com o procedimento de múltiplas características foi possível mapear nove QTLs pleiotrópicos e o aumento de poder do teste foi evidenciado, principalmente, no GGA2. / This study aim to map QTL for performance and carcass traits in (Gallus gallus) . There were used 350 F2 chickens developed by crossing a broiler male line (TT) with a layer line (CC). The body weight with 1, 35 and 42 days of age, weight gain, feed intake and feed conversion from 35 to 41 days, weights of lung, liver, heart, gizzard, breast, drums and thighs, carcass (without giblets, feet and head), residual carcass (weight of carcass without breast, drums, thighs, and wings), wings, head, feet, and abdominal fat, intestine length and hematócrito value were the phenotypes analyzed. Seventy nine microssatellite markers were used, which covered 1510.7 cM of chromosomes 1, 2, 3, 4, 5, 8, 11, and 13. Firstly, QTL analysis was carried out for each original trait and for canonical variables, obtained from principal components analysis of the phenotypes. The likelihood ratio test (LRT) between a reduced model (only fixed effects of sex, hatch and random effect of infinitesimal genetic value) and a full model (all anterior effects and QTL effects) was applied to map QTL, but mean square approach was used for mapping QTL with epistatic effect. Besides, models with QTL by sex interaction were also tested. Finally, multi-trait analysis was used to test the hypothesis of pleiotropic x linkage QTLs, besides of the tests previously described, except models with epistatic effects. For descriptive and principal components analysis the SAS software was used. QTL mapping was carried out with QxPak software and a fortran 90 source code to test models with epistatic effect. The univariate model, without interactions, allowed to map eight highly significant QTLs (five in the GGA1, for PV35, PV42, abdominal fat, intestine length, and head weight; two QTLs in the GGA2, for PV35 and PV42; and one QTL in the GGA3 for abdominal fat), six significant QTLs (two in the GGA1 for feed conversion and weight gain; two in the GGA3 for wings and drums and thighs weights; one in the GGA4 for head weight; and one in the GGA8 for gizzard weight), besides 13 suggestive linkages for several traits. Ten QTLs interacted with sex, being five of them male specific QTLs. The model with simultaneous search for two QTLs was important to map six QTLs previously lost (five for body weight at 35 and 42 days; and one for head weight). Epistatic Interactions were observed for body weight among a QTL in 69 cM of GGA1 with QTLs in 333 cM of GGA1, 272 cM of GGA3 and 77 cM of GGA5. Two QTLs and six suggestive linkages were mapped with the analysis on canonical variables, which have not been mapped with the original variables. With the multi-trait approach nine pleiotropic QTLs were mapped and an increase in the test power was observed mainly in the GGA2 chromosome.

Muitos caracteres em plantas e animais são de natureza quantitativa, influenciados por múltiplos genes. Com o advento de novas técnicas moleculares tem sido possível mapear os locos que controlam os caracteres quantitativos, denominados QTLs (Quantitative Trait Loci). Mapear um QTL significa identificar sua posição no genoma, bem como, estimar seus efeitos genéticos. A maior dificuldade para realizar o mapeamento de QTLs, se deve ao fato de que o número de QTLs é desconhecido. Métodos bayesianos juntamente com método Monte Carlo com Cadeias de Markov (MCMC), têm sido implementados para inferir conjuntamente o número de QTLs, suas posições no genoma e os efeitos genéticos . O desafio está em obter a amostra da distribuição conjunta a posteriori desses parâmetros, uma vez que o número de QTLs pode ser considerado desconhecido e a dimensão do espaço paramétrico muda de acordo com o número de QTLs presente no modelo. No presente trabalho foi implementado, utilizando-se o programa estatístico R uma abordagem bayesiana para mapear QTLs em que múltiplos QTLs e os efeitos de epistasia são considerados no modelo. Para tanto foram ajustados modelos com números crescentes de QTLs e o fator de Bayes foi utilizado para selecionar o modelo mais adequado e conseqüentemente, estimar o número de QTLs que controlam os fenótipos de interesse. Para investigar a eficiência da metodologia implementada foi feito um estudo de simulação em que foram considerados duas diferentes populações experimentais: retrocruzamento e F2, sendo que para ambas as populações foi feito o estudo de simulação considerando modelos com e sem epistasia. A abordagem implementada mostrou-se muito eficiente, sendo que para todas as situações consideradas o modelo selecionado foi o modelo contendo o número verdadeiro de QTLs considerado na simulação dos dados. Além disso, foi feito o mapeamento de QTLs de três fenótipos de milho tropical: altura da planta (AP), altura da espiga (AE) e produção de grãos utilizando a metodologia implementada e os resultados obtidos foram comparados com os resultados encontrados pelo método CIM. / Many traits in plants and animals have quantitative nature, influenced by multiple genes. With the new molecular techniques, it has been possible to map the loci, which control the quantitative traits, called QTL (Quantitative Trait Loci). Mapping a QTL means to identify its position in the genome, as well as to estimate its genetics effects. The great difficulty of mapping QTL relates to the fact that the number of QTL is unknown. Bayesian approaches used with Markov Chain Monte Carlo method (MCMC) have been applied to infer QTL number, their positions in the genome and their genetic effects. The challenge is to obtain the sample from the joined distribution posterior of these parameters, since the number of QTL may be considered unknown and hence the dimension of the parametric space changes according to the number of QTL in the model. In this study, a Bayesian approach was applied, using the statistical program R, in order to map QTL, considering multiples QTL and epistasis effects in the model. Models were adjusted with the crescent number of QTL and Bayes factor was used to select the most suitable model and, consequently, to estimate the number of QTL that control interesting phenotype. To evaluate the efficiency of the applied methodology, a simulation study was done, considering two different experimental populations: backcross and F2, accomplishing the simulation study for both populations, considering models with and without epistasis. The applied approach resulted to be very efficient, considering that for all the used situations, the selected model was the one containing the real number of QTL used in the data simulation. Moreover, the QTL mapping of three phenotypes of tropical corn was done: plant height, corn-cob height and grain production, using the applied methodology and the results were compared to the results found by the CIM method.

No description available.

Muitos caracteres em plantas e animais são de natureza quantitativa, influenciados por múltiplos genes. Com o advento de novas técnicas moleculares tem sido possível mapear os locos que controlam os caracteres quantitativos, denominados QTLs (Quantitative Trait Loci). Mapear um QTL significa identificar sua posição no genoma, bem como, estimar seus efeitos genéticos. A maior dificuldade para realizar o mapeamento de QTLs, se deve ao fato de que o número de QTLs é desconhecido. Métodos bayesianos juntamente com método Monte Carlo com Cadeias de Markov (MCMC), têm sido implementados para inferir conjuntamente o número de QTLs, suas posições no genoma e os efeitos genéticos . O desafio está em obter a amostra da distribuição conjunta a posteriori desses parâmetros, uma vez que o número de QTLs pode ser considerado desconhecido e a dimensão do espaço paramétrico muda de acordo com o número de QTLs presente no modelo. No presente trabalho foi implementado, utilizando-se o programa estatístico R uma abordagem bayesiana para mapear QTLs em que múltiplos QTLs e os efeitos de epistasia são considerados no modelo. Para tanto foram ajustados modelos com números crescentes de QTLs e o fator de Bayes foi utilizado para selecionar o modelo mais adequado e conseqüentemente, estimar o número de QTLs que controlam os fenótipos de interesse. Para investigar a eficiência da metodologia implementada foi feito um estudo de simulação em que foram considerados duas diferentes populações experimentais: retrocruzamento e F2, sendo que para ambas as populações foi feito o estudo de simulação considerando modelos com e sem epistasia. A abordagem implementada mostrou-se muito eficiente, sendo que para todas as situações consideradas o modelo selecionado foi o modelo contendo o número verdadeiro de QTLs considerado na simulação dos dados. Além disso, foi feito o mapeamento de QTLs de três fenótipos de milho tropical: altura da planta (AP), altura da espiga (AE) e produção de grãos utilizando a metodologia implementada e os resultados obtidos foram comparados com os resultados encontrados pelo método CIM. / Many traits in plants and animals have quantitative nature, influenced by multiple genes. With the new molecular techniques, it has been possible to map the loci, which control the quantitative traits, called QTL (Quantitative Trait Loci). Mapping a QTL means to identify its position in the genome, as well as to estimate its genetics effects. The great difficulty of mapping QTL relates to the fact that the number of QTL is unknown. Bayesian approaches used with Markov Chain Monte Carlo method (MCMC) have been applied to infer QTL number, their positions in the genome and their genetic effects. The challenge is to obtain the sample from the joined distribution posterior of these parameters, since the number of QTL may be considered unknown and hence the dimension of the parametric space changes according to the number of QTL in the model. In this study, a Bayesian approach was applied, using the statistical program R, in order to map QTL, considering multiples QTL and epistasis effects in the model. Models were adjusted with the crescent number of QTL and Bayes factor was used to select the most suitable model and, consequently, to estimate the number of QTL that control interesting phenotype. To evaluate the efficiency of the applied methodology, a simulation study was done, considering two different experimental populations: backcross and F2, accomplishing the simulation study for both populations, considering models with and without epistasis. The applied approach resulted to be very efficient, considering that for all the used situations, the selected model was the one containing the real number of QTL used in the data simulation. Moreover, the QTL mapping of three phenotypes of tropical corn was done: plant height, corn-cob height and grain production, using the applied methodology and the results were compared to the results found by the CIM method.

Breeding programmes that use elite sires with the best estimated breeding values for muscling traits have achieved significant improvement in lamb production in the UK. Further acceleration of the rate of genetic gain for the desirable production traits could be achieved using DNA marker-assisted selection (MAS) breeding strategies. The underlying causal genetic variants associated with improved muscling may be unknown and lying between a cluster of genes known as quantitative trait loci (QTL) or could be single nucleotide polymorphisms (SNP). LoinMAXTM, Texel muscling QTL (TM-QTL) and c.*1232G > A myostatin mutation were genetic variants that reported to be associated with improved muscling characteristics and hence subjected to further analysis in this project. It is essential before incorporating segregating genetic variants in any breeding scheme to comprehensively evaluate their effects on carcass traits. In-vivo scanning (ultrasound scanning (US) and computed tomography scanning (CT)), and carcass video image analyses (VIA) were used in the current studies. Objective VIAprediction weights of the carcass primal cuts could be the backbone of a value-based marketing system that is suggested to replace the current Meat and Livestock Commission (MLC) carcass grades for conformation scores (MLC-C) and fat class (MLC-F). The effect of a single copy of LoinMAXTM QTL (LM-QTL) compared to noncarriers was evaluated in UK crossbred lambs out of Scottish Mule ewes. M. longissimus lumborum (MLL) width, depth and area, as measured by CT scanning, were significantly greater in lambs heterozygous for LM-QTL compared to noncarriers. VIA detected a significant effect of the LM-QTL on the predicted weight of saleable meat yield in the loin primal cut (+2.2%; P < 0.05). The effects of the ovine c.*1232G > A myostatin mutation (MM), found on sheep chromosome 2, on carcass traits in heterozygous crossbred lambs sired by Texel and Poll Dorset rams were studied. Texel crossbred lambs carrying MM had increased loin depth and area. In both crossbred lambs, MM-carriers had significantly higher CT-estimated lean weight and proportion (2 to 4%) and muscle to bone ratios (by ~3%). Poll Dorset heterozygous crossbred animals had higher muscle to fat ratio (28%) and significantly lower fat-related measurements. The c.*1232G > A (MM) mutation as well as TM-QTL effects were evaluated in a different genetic background of Texel x Welsh Mountain crossbreed lambs. Carrying two copies of MM was associated with a significant positive effect on 8 week weight, a negative effect on ultrasound fat depth, a substantial decrease in MLC-fat score, positive impact on VIA-estimated weight of the hind leg, chump and loin primal cuts, as well as the muscularity of the hind leg and loin regions with greater loin muscle width, depth and area. Two copies of MM altered lambs‟ morphological traits with significantly wider carcasses across the shoulders, breast and hind legs and greater areas of the back view of the carcass when measured by VIA. TM-QTL significantly increased US-muscle depth and TM-QTL carriers had significantly greater loin muscle width and area measurements. Comparing TM-QTL genetic groups (homozygote allele carriers (TM/TM), heterozygote carriers of paternal and maternal origin of allele (TM/+ and +/TM, respectively) and homozygote non-carriers (+/+)) and TM-QTL mode of action were then studied. TM/TM carcasses were significantly heavier than non-carriers by 1.6 kg and scored higher conformation values when compared to heterozygote groups only. TM/+ lambs had significantly higher VIA-predicted weight and muscularity in the hind leg and loin, and higher loin dimensions relative to some other genotypic groups. The effect of TM-QTL on some carcass shape measurements was significant. TM-QTL mode of action results on the loin muscling traits supports the earlier reports of polar over dominance. In the light of growing calls to replace the current subjective carcass payment system with the objective VIA system that values the carcass according to the superiority of its cuts, I investigated the ability of US and CT measurements to predict the VIAestimated weights of the carcass primal cuts. Several prediction equations were examined but the best could be achieved when ultrasound measurement, CT linear measurements and live weight were fitted in the model. Since CT scanning information of elite sires is now being used for genetic selection for carcass merit, genetic parameters and genetic relationships between CT scanning measurements and post mortem traits (VIA and MLC-FC) were estimated. However, results were not sufficiently accurate to be of practical use due to lack of data.

Variations in gene expression have long been hypothesised to be the major cause of individual differences. An initial focus of this research thesis is to elucidate the genetic regulatory architecture of gene expression. Expression quantitative trait locus (eQTL) mapping analyses have been performed on expression levels of over 22,000 mRNAs from three tissues of a panel of recombinant inbred mice. These analyses are "single-locus" where "linkage" (i.e. significant correlation) between an expression trait and a putative eQTL is considered independently of other loci. Major conclusions from these analyses are: 1. Gene expression is mainly influenced by genetic (sequence) variations that act in trans rather than in cis; 2. Subsets of genes are controlled by master regulators that influence multiple genes; 3. Gene expression is a polygenic trait with multiple regulators. Single-locus mapping analyses are not designed for detecting multiple regulators of gene expression, and so observation of multiple-linkages (i.e. one expression trait mapped to multiple eQTLs) formed the basis of the second objective of this research project: to investigate the relationship between multiple-linkages and genotype pattern-association. A locus-pair is said to have associated genotype patterns if they have similar inheritance pattern across a panel of individuals, and these are attributed to one of fours sources: 1. linkage disequilibrium between loci located on the same chromosome; 2. non-syntenic association; 3. random association; 4. un-associated. To understand the validity of multiple-linkages observed in single-locus mapping studies, a newly developed method, bqtl.twolocus, is applied to confirm two-locus effects for a total of 898 out of 1,233 multiple-linkages identified from the three studies mentioned above as well as from seven publicly available eQTL-mapping studies. Combining these results with information of genotype pattern-association, a subset of 478 multiple-linkages has been deduced for which there is high confidence to be real.

As nitrogen (N) is a critical nutrient for plant growth, the development of synthetic N fertilisers dramatically changed agricultural production in the twentieth century. Improvement in N use efficiency (NUE) has been a focus of breeding for grain crop species, since protein is an important component of the harvested product. The study of NUE in sugarcane has lagged behind grain crops, mainly because N is not a component of sucrose, the primary product of the traditional sugarcane industry. Recently, improvement in NUE has become a focus of sugarcane breeding, due largely to environmental concerns regarding pollution from high N fertilisation, and the increasing cost of N fertilisers. This thesis aimed to gain an initial understanding of the genetic basis for variability in NUE in sugarcane. This was achieved through: (i) the screening of 168 sugarcane genotypes under limiting and non-limiting N supply in two glasshouse experiments; (ii) the mapping of marker-trait associations (MTA) for biomass and physiological traits under limiting and non-limiting N supply in a sugarcane mapping population; (iii) the analysis of expression of candidate genes encoding enzymes involved in the central processes of N assimilation and remobilisation in plants; and (iv) the mapping of candidate genes in a sugarcane genetic map. Genetic variation was identified for growth traits as well as physiological traits including %N, internal NUE (iNUE, g dry weight g-1 N) and leaf glutamine synthetase (GS) activity in a sugarcane mapping population. These traits were also analysed for linkage with genetic markers. Genetic variation in the screened genotypes was higher under limiting N supply, a finding that was reflected by the fact that marker-trait associations (MTA) for increases in iNUE were not identified under non-limiting N supply in the commercial parent of the mapping population. Contrary to findings in grain crop species, there was no link between GS activity and other traits, either through phenotypic correlations or co-location of MTA. The expression of candidate genes encoding GS, nitrate reductase (NR) and alanine amintotransferase (AlaAT) was quantified with Sequenom™ MassARRAY technology. Plants were grown under growth-limiting N supply, non-limiting N supply, or a N-pulse treatment, which consisted of growth-limiting N supply followed by non-limiting N supply 24 hours prior to sampling. Two genes, scAlaAT.d and scGS1.a, encoding AlaAT and GS respectively, were identified as non-responsive to changes in N supply, whereas scAlaAT.a, scGS1.b and scGS1.c had significantly (p<0.05) increased expression under a N-pulse, indicating an important role for these genes in the response of sugarcane to a sudden increase in N availability. The location of candidate genes associated with variation in NUE in a sugarcane genetic map were sought through restriction fragment length polymorphism (RFLP) markers. Twenty-two probes were screened, of which two generated single-dose markers, allowing the mapping of a single allele of scAspAT, encoding aspartate aminotransferase, and two alleles of scGS2, encoding plastidic GS. Because of the economic and environmental consequences of inefficient N fertiliser application, the development of sugarcane cultivars with improved NUE is essential. Since variation for NUE exists, especially in unimproved sugarcane varieties, this may be achieved through traditional breeding methods by screening existing breeding populations under limiting N supply. Additionally, an improved understanding of the genetic basis of variation for NUE in sugarcane should be pursued by further analysis of candidate gene response to changing N availability by screening widely varying cane species for differences in gene expression, enzyme activity and metabolite profiles. The further addition of candidate gene locations to sugarcane genetic maps will aid both future marker-assisted selection in breeding, and a fundamental understanding of genetic control of NUE variation. Through the development of sugarcane cultivars with improved NUE and an enhanced knowledge of the genetic control underpinning sugarcane N physiology, concerns regarding high N fertiliser applications may be mitigated and sustainability ensured.

Ce travail a pour but de développer des méthodes de détection de locus affectant les caractères quantitatifs, appelés QTL, à partir de l'information disponible sur des caractères corrélés et/ou des positions liées, chez les animaux d'élevage.<br />Les méthodologies ont été dans un premier temps caractérisées pour leurs puissances et leurs précisions d'estimation des paramètres (positions et effets des QTL) à partir de données simulées. Nous avons développé d'une part des méthodes multivariées, extrapolées de techniques décrites pour l'analyse de données issues de croisements entre populations supposées génétiquement fixées, et d'autre part des méthodes synthétiques univariées, développées à l'occasion de ce travail. Ces dernières méthodes permettent de synthétiser l'information due à la présence du (des) QTL déterminant plusieurs caractères dans une unique variable, combinaison linéaire des caractères. Le nombre de paramètres à estimer est ainsi indépendant du nombre de caractères étudiés, permettant de réduire fortement les temps de calcul par rapport aux méthodes multivariées. La stratégie retenue repose sur des techniques d'analyse discriminante. Pour chaque vecteur de positions testé, des groupes de descendants sont créés en fonction de la probabilité que les individus aient reçu l'un ou l'autre haplotype de leur père. Les matrices de (co)variance génétique et résiduelle spécifiques de la présence du (des) QTL peuvent alors être estimées. La transformation linéaire permet de maximiser le rapport de ces deux variabilités.<br />Les méthodes basées sur l'analyse de variables synthétiques permettent en général d'obtenir des résultats équivalents, voire meilleurs, que les stratégies multivariées. Seule l'estimation des effets des QTL et de la corrélation résiduelle entre les caractères reste inaccessible par ces méthodes. Une stratégie itérative basée sur l'analyse de variables synthétiques pour la sélection des caractères et des régions chromosomiques à analyser par les méthodes multivariées est proposée. Par ailleurs, nous avons quantité les apports des méthodologies multidimensionnelles pour la cartographie des QTL par rapport aux méthodes unidimensionnelles. Dans la majorité des cas, la puissance et la précision d'estimation des paramètres sont nettement améliorées. De plus, nous avons pu montrer qu'un QTL pléiotrope peut être discriminé de deux QTL liés, s'ils sont relativement distants.<br />Ces méthodologies ont été appliquées à la détection de QTL déterminant cinq caractères de composition corporelle chez le porc sur le chromosome 7. Deux groupes de QTL déterminant des types de gras différents, le gras interne et le gras externe, ont ainsi été discriminés. Pour chacun de ces groupes, les analyses multiQTL ont permis d'identifier au moins deux régions chromosomiques distinctes déterminant les caractères.

En l'absence de mesures de routine des qualités sensorielles de la viande bovine, les éleveurs et les unités de sélection s'interrogent sur les possibilités d'exploiter la variabilité génétique de ces caractères au niveau moléculaire. La thèse consiste à réaliser les recherches relatives à l'analyse des associations entre polymorphismes génétiques et phénotypes enregistrés dans le programme Qualvigène. L'objectif est de proposer aux éleveurs et aux unités de sélection des marqueurs génétiques comme critères de sélection. Des SNP situés dans des gènes candidats ont été génotypés chez les 3349 Jeunes Bovins du programme (1114 en race Charolaise, 1254 en race Limousine et 981 en race Blonde d'Aquitaine) ainsi que chez les 114 pères et une majorité des mères. Ces gènes ont été mis en évidence pour leur association avec la tendreté, le persillé de la viande ou encore la croissance des animaux dans la bibliographie ou dans des études de génomique fonctionnelle à l'INRA. Des analyses d'association ont été effectuées. Un génome scan sur microsatellites dans 6 familles Limousine et Blonde d'Aquitaine a permis une primo-localisation peu précise de régions chromosomiques d'intérêt. En 2010, la puce Illumina "Bovine SNP50®" a été utilisée pour mettre en place une cartographie fine de QTL de qualité de la viande. Des premiers résultats en race Blonde ont permis de confirmer et de localiser plus finement des régions QTL détectées avec les microsatellites et aussi d'en localiser de nouvelles. La recherche de mutations causales devrait nous permettre de mettre en place un kit de détection des animaux présentant une supériorité génétique quant aux qualités organoleptiques de la viande.