Two pieces of complementary research dealing with the study of the importance of genetic factors on the quality of the Spanish dry-cured ham Jamón Serrano were carried out for this thesis. The first one compared Serrano dry-cured hams made from typical commercial lines of four representative breeds (Duroc, Landrace, Large White and Piétrain) subjected to the current standard industrial process. Most of the differences in raw material, final composition and rheology were between Piétrain and the other three breeds. Duroc breed showed the most important differences in instrumental colour and appearance, probably caused by its higher intramuscular fat content. The differences between the four breeds in dry-cured ham sensory quality were too small to discriminate them on single traits. However, according to multivariate analyses (PCA), the Large White showed the most appropriate sensory characteristics for dry-cured ham production of the four pure breeds under the processing conditions used, while the Piétrain showed the least appropriate ones. The second piece of research studied the effect of the previously identified PRKAG3 and CAST genetic polymorphisms (PRKAG3 Ile199Val, CAST Arg249Lys and CAST Ser638Arg) on the quality traits of the Spanish dry-cured ham Jamón Serrano. Associations between the polymorphisms and traits of flavour and texture were found. The PRKAG3 Ile/Ile genotype, the CAST249 Arg/Arg genotype, the CAST638 Arg/Arg genotype and the haplotype CAST 249Arg-638Arg are the most favourable for the production of the Spanish dry-cured ham Jamón Serrano. It can be concluded that the effect of different pure breeds was not strong enough to produce significant perceivable differences between dry-cured hams. In contrast, differences between genotypes of PRKAG3 and CAST polymorphisms on proteolysis and sensory traits indicated that polymorphisms could induce perceivable differences in the sensory quality of dry-cured hams. Accordingly, genetic polymorphisms could be better indicators of material screening in the dry-cured ham industry than breeds. / En aquesta tesi s’han realitzat dos estudis complementaris sobre la importància dels factors genètics sobre la qualitat del pernil curat Jamón Serrano. El primer compara pernils curats elaborats a partir de línies genètiques comerciales de quatre races representatives (Duroc, Landrace, Large White y Piétrain) i sotmesos a un procés industrial estàndard i actual Les majors diferències en els pernils frescos i en la composició i reologia final es van observar entre Piétrain i les altres tres races. La raça Duroc va presentar les principals diferències en color instrumental i aparença sensorial, probablement degut al seu alt contingut de greix intramuscular. Les diferències en característiques sensorials entre les quatre races van ser massa petites per a poder discriminar entre elles en base a característiques individuals. No obstant, considerant les anàlisis multivariades (PCA), la raça Large White va mostrar les característiques sensorials més apropiades per al pernil curat en les condicions de elaboració aquí utilitzades, mentres que la raça Piétrain va mostrar les menys apropiades. El segon estudi analitza l’efecte dels polimorfismes genètics PRKAG3 i CAST, prèviament identificats (PRKAG3 Ile199Val, CAST Arg249Lys i CAST Ser638Arg), sobre les característiques de qualitat del pernil curat espanyol Jamón Serrano. Hi va haver associacions significatives dels genotips PRKAG3, CAST249 i CAST638 i del haplotip CAST amb varis caràcters relacionats amb flavor i textura. Els genotips PRKAG3 Ile/Ile, CAST249 Arg/Arg, CAST638 Arg/Arg i l’haplotip CAST 249Arg-638Arg són els més favorables per a l’elaboració del pernil curat Jamón Serrano. Es pot concloure que l’efecte de la raça no va ser prou fort per a provocar diferències perceptibles entre els pernils curats. Per contra, les diferències entre genotips dels polimorfismes PRKAG3 i CAST poden induir diferències perceptibles en la qualitat sensorial dels pernils curats. En conseqüència, els polimorfismes genètics podrien ser millors indicadors per a la selecció de la matèria prima a les indústries elaboradores de pernil curat que les races.

<p>Domestication has led to genetic changes that affect quantitative traits in farm animals. Both candidate gene analysis using association tests and genome scans based on linkage analysis have been performed to understand the molecular basis underlying quantitative genetic variation in horses, pigs and chickens. To test a possible association of polymorphisms in the <i>PRKAG3</i> gene, previously found to be associated with excess glycogen content in pig skeletal muscle, with quantitative traits in the horse, the major coding part of the equine <i>PRKAG3</i> sequence was identified. Bioinformatic characterization of the equine <i>PRKAG3</i> gene was conducted. A single nucleotide polymorphism (SNP) causing a missense mutation (Pro258Leu) was found. Screening this SNP showed that the Leu258 allele was more frequent in breeds with heavy muscularity. To assess previously reported associations between polymorphisms in the <i>MC4R</i> gene and obesity-related traits further, we conducted linkage analysis between the <i>MC4R</i> locus and fatness-related traits using a Wild BoarxLarge White intercross. No significant association between segregation at the <i>MC4R</i> locus and fatness was detected in this pedigree. A genome scan of quantitative trait loci (QTLs) has been performed in an intercross between chicken lines divergently selected for growth. Divergent parental lines have been established by selecting for high and low 56-day body weight for over 40 generations. The selection has led to approximately a 9-fold difference in 56-day body weight between lines and resulted in correlated responses for a number of traits including appetite, immune response, body composition and metabolic traits. Phenotypic data on growth and other correlated traits were collected from more than 800 F2 individuals. Genome scans using 145 markers on 26 linkage groups have identified QTLs affecting growth and correlated responses to selection for 56-day body weight. No major QTL explaining a large portion of phenotypic variation in growth was revealed in this study. </p>

Domestication has led to genetic changes that affect quantitative traits in farm animals. Both candidate gene analysis using association tests and genome scans based on linkage analysis have been performed to understand the molecular basis underlying quantitative genetic variation in horses, pigs and chickens. To test a possible association of polymorphisms in the PRKAG3 gene, previously found to be associated with excess glycogen content in pig skeletal muscle, with quantitative traits in the horse, the major coding part of the equine PRKAG3 sequence was identified. Bioinformatic characterization of the equine PRKAG3 gene was conducted. A single nucleotide polymorphism (SNP) causing a missense mutation (Pro258Leu) was found. Screening this SNP showed that the Leu258 allele was more frequent in breeds with heavy muscularity. To assess previously reported associations between polymorphisms in the MC4R gene and obesity-related traits further, we conducted linkage analysis between the MC4R locus and fatness-related traits using a Wild BoarxLarge White intercross. No significant association between segregation at the MC4R locus and fatness was detected in this pedigree. A genome scan of quantitative trait loci (QTLs) has been performed in an intercross between chicken lines divergently selected for growth. Divergent parental lines have been established by selecting for high and low 56-day body weight for over 40 generations. The selection has led to approximately a 9-fold difference in 56-day body weight between lines and resulted in correlated responses for a number of traits including appetite, immune response, body composition and metabolic traits. Phenotypic data on growth and other correlated traits were collected from more than 800 F2 individuals. Genome scans using 145 markers on 26 linkage groups have identified QTLs affecting growth and correlated responses to selection for 56-day body weight. No major QTL explaining a large portion of phenotypic variation in growth was revealed in this study.