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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
21

Evolutionary quantitative genetics and genomics applied to the study of sexually dimorphic traits in wild bighorn sheep (Ovis canadensis)

Poissant, Jocelyn Unknown Date
No description available.
22

Evolutionary quantitative genetics and genomics applied to the study of sexually dimorphic traits in wild bighorn sheep (Ovis canadensis)

Poissant, Jocelyn 06 1900 (has links)
The independent evolution of the sexes may often be constrained if male and female homologous traits share a similar genetic architecture. Thus, cross-sex genetic covariance is assumed to play a key role in the evolution of sexual dimorphism (SD) with consequent impacts on sexual selection, population dynamics and the speciation process. I used quantitative genetics tools to assess the importance of sex-specific genetic variance in facilitating the evolution of body mass and horn size SD in wild bighorn sheep from Ram Mountain, Alberta. I also developed a bighorn sheep genetic linkage map composed of 247 microsatellite markers to gain insights about the genetic architecture of trait variation. Finally, I conducted systematic reviews and meta-analyses of published cross-sex genetic correlations (rMF, a standardized estimate of cross-sex genetic covariance) to test basic hypotheses about the importance of sex-specific genetic variance in the evolution of SD and mechanisms responsible for generating such variance. My results demonstrated that sex-specific genetic variance was present in bighorn sheep and that it likely played an important role in alleviating intralocus sexual conflicts. The quantitative trait locus (QTL) mapping analysis resulted in the identification of numerous loci influencing body mass and horn dimensions, some of which had apparent sex-specific effects. An analysis of 553 rMF estimates recovered from 114 published sources allowed demonstrating that 1) the evolution of SD was generally constrained by positive cross-sex genetic covariance, 2) levels of SD were often sub-optimal, and 3) sex-specific genetic variance was an important mechanism allowing the evolution of SD. In addition, I confirmed the long-standing hypothesis of a general decline in rMF with age. Sexual dimorphism is an important evolutionary phenomenon, but our understanding of its evolution is still limited. After decades of speculation, my research has provided clear empirical evidence for the importance of sex-specific genetic variance in allowing its evolution. / Ecology
23

Implications of evolutionary history and population structure for the analysis of quantitative trait loci in the ancient conifer Araucaria cunninghamii

Scott, Leon J Unknown Date (has links)
Araucaria cunninghamii is an ancient tropical conifer with substantial value as a forestry species in Australia and Papua New Guinea, and has been subject to a genetic improvement program for more than 50 years. This study was undertaken to demonstrate the utility of quantitative genetic analysis in describing the genetic architecture of commercial traits in A. cunninghamii. Linkage maps were prepared using the pseudotestcross strategy in what was believed to be a wide interprovenance cross using microsatellites and AFLP. A very low rate of marker polymorphism and limited differentiation between the parental provenances was identified, resulting in low mapping efficiency. The population genetic structure of A. cunninghamii was assessed to establish the underlying causes for the limited differentiation and low marker heterozygosity and assess the implications for future analysis of quantitative traits. Despite the limited mapping efficiency, genetic maps were generated for both parents. The maternal map for individual H15 contained 14 linkage groups comprising of 51 AFLP and one microsatellite. The map covered 1290 cM, representing 89% of the estimated genome size. The paternal map for individual Gil24 was 633 cM, consisting of eight linkage groups. Genetic architecture of quantitative traits was examined with putative QTL identified for height, DBH and stem straightness; one was highly significant (p<0.01), three significant (0.01<p<0.05) and 13 suggestive (p<0.10). Significant QTL each accounted for 7-11% of the phenotypic variance with a high allele substitution effect (0.63-0.81). These QTL were likely to be associated with genes of moderate effect. The suggestive QTL each accounted for 3-6% of the phenotypic variance with an allele substitution effect of 0.40-0.63. Three genomic regions contributed to the expression of multiple traits at multiple ages. Stable QTL had decreasing phenotypic effects with increasing age. The population genetic survey characterised low levels of allelic diversity across the geographic range. Three broad regions were characterised; Papua New Guinea, Cape York and northern Queensland to NSW. There was limited differentiation between provenances within these regions, and high diversity within provenances. Limited genetic differentiation between provenances seems to be the result of genetic stability due to long overlapping generations, limited founder effects and a very low mutation rate. The latter may also contribute the low heterozygosity. Limited marker polymorphism and limited differentiation between provenances within broad regions are common features in A. cunninghamii. Therefore careful parental selection and alternative experimental approaches will be required before undertaking further analysis of quantitative traits.
24

Caracterização fenotípica de RIL s de feijão derivadas da população Rudá x AND 277

Silva, Leonardo Corrêa da 16 July 2013 (has links)
Made available in DSpace on 2015-03-26T13:40:00Z (GMT). No. of bitstreams: 1 texto completo.pdf: 927669 bytes, checksum: f83f22161a7d44b4d00efbcaead43a73 (MD5) Previous issue date: 2013-07-16 / Conselho Nacional de Desenvolvimento Científico e Tecnológico / Recombinant inbred lines (RIL s) are useful for building linkage maps. The maintainance the population genetic structure for mapping over their production is important for the construction of accurate maps. The existence of genetic variability within those populations is essential for detection of the association between molecular markers and controlling loci of quantitative or qualitative traits. Thus, the objective of this work was to quantify the diversity of a RIL population derived from Rudá x AND 277 cross. Five hundred plants from the F2 population of Rudá x AND 277 cross were conducted up to the F10 generation by the single seed descent method (SSD) to obtain those RIL s. Then, a group of 393 RIL's plus the parents and five control plants were evaluated in the field in a 20 x 20 triple lattice design, for seven quantitative traits. Because of the low efficiency of the lattice, the data were analyzed in randomized blocks with additional treatments (parents) with three replications. The five controls were eliminated from this analysis. The 393 RIL s and parents were characterized in the greenhouse for their reaction resistance to breeds 65 and 89 of Colletotrichum lindemunthianum, the causal agent of anthracnose. The effect of RIL s was significant for all traits evaluated (P < 0.01), indicating the existence of genetic variability in such population. The RIL s vs parents contrast was significant for number of days to flowering (DF) and to harvest (DC), grain yield (PROD) and weight of one hundred grains (M100) and not significant for architecture of plants (ARQ), degree of seed flattening (H) and seed shape (J). Significance of these contrasts indicates that the mean of RIL's differs from that of the parents. Coincidence between these means is expected only in the absence of epistasis. Thus, these results indicate the occurrence of additive x additive epistatic interactions for DF, DC, PROD and M100. The low values of the coefficient of experimental variation obtained indicate good precision of the experiment. Values of heritability ranged from 82.81 to 97.09%. In relation to breeds 65 and 89 of anthracnose, it was observed a 3:1 (resistant: susceptible) and 1:1 segregations respectively in the population of 393 RIL s, indicating the maintenance of genetic structure of such RIL s. The characters that formed the lowest and the highest number of groups of means were ARQ and M100, four and ten groups, respectively, by the Skott-Knott test at 5% probability. The 393 RIL s were grouped by Tocher method in 10 groups and the characters that most contributed to the genetic dissimilarity were M100 and DF, while ARQ was the character that contributed the least. The population made up by 393 RIL s present genetic variability for all traits, which is essential for detecting associations with molecular markers and genetic mapping. / Linhagens endogâmicas recombinantes (Recombinante Imbred Lines - RIL s) são de utilidade na construção de mapas de ligação. A manutenção da estrutura genética das populações para o mapeamento ao longo de sua obtenção é importante para a construção de mapas acurados. A existência de variabilidade genética nessas populações é fundamental para a detecção da associação entre marcadores moleculares e locos controladores de caracteres qualitativos ou quantitativos. Assim, o objetivo deste trabalho foi quantificar a diversidade de uma população de RIL s derivadas do cruzamento entre os genitores Rudá e AND 277. Na obtenção destas RIL s, 500 plantas F2 do cruzamento Rudá x AND 277 foram conduzidas até a geração F10 pelo método do descendente de uma única semente (Single Seed Descent - SSD). Em seguida, um grupo de 393 RIL s mais os genitores e cinco testemunhas foi avaliado em campo no delineamento látice triplo 20 x 20, quanto a sete caracteres quantitativos. Dada a baixa eficiência do látice, os dados foram analisados em blocos casualizados com testemunhas adicionais (genitores) e três repetições. As outras cinco testemunhas foram eliminadas dessa análise. As 393 RIL s e os genitores foram caracterizados quanto à reação de resistência às raças 65 e 89 de Colletotrichum lindemuthianum, causador da antracnose do feijoeiro, em casa-de- vegetação. Observou-se significância do efeito de RIL s para todos os caracteres avaliados (P < 0,01), indicando a existência de variabilidade genética nessa população. O contraste RIL s vs. Genitores foi significativo (P < 0,01) para os caracteres número de dias ao florescimento (DF) e à colheita (DC), produtividade de grãos (PROD) e massa de cem grãos (M100) e não significativo para a arquitetura de plantas (ARQ), grau de achatamento da semente (H) e forma da semente (J). A significância desses contrastes indica que a média das RIL s difere da média dos genitores. Igualdade entre as médias das RIL s e dos genitores é esperada apenas na ausência de epistasia. Assim, estes resultados indicam a ocorrência de interações epistáticas do tipo aditiva x aditiva para os caracteres DF, DC, PROD e M100. Os baixos valores do coeficiente de variação experimental obtidos indicam boa precisão do experimento. Os valores da herdabilidade variaram de 82,81 a 97,09%. Em relação às raças 65 e 89 de antracnose observou-se segregação de 3:1 (resistentes:suscetível) e de 1:1, respectivamente, na população de 393 RIL s, indicando manutenção da estrutura genética destas RIL s. Pelo teste de Skott-Knott, a 5% de probabilidade, os caracteres que formaram menor e maior número de grupos de médias foram ARQ e M100, com quatro e dez grupos cada, respectivamente. As 393 RIL s foram agrupadas pelo método de Tocher em 10 grupos e os caracteres que mais contribuíram para a dissimilaridade genética foram M100 e DF, e o que menos contribuiu foi ARQ. A população constituída de 393 RIL s apresenta variabilidade genética para todos os caracteres avaliados, imprescindível para detecção de associações com marcas moleculares e mapeamento genético.
25

Mapa de ligação e mapeamento de locos quantitativos de resistência a Sporisorium scitamineum em cana-de-açúcar / Linkage and mapping quantitative loci for resistance to Sporisorium scitamineum in sugarcane

Morais, Taislene Butarello Rodrigues de 22 November 2012 (has links)
A cultura da cana-de-açúcar está exposta a diversos patógenos, entre eles, o fungo Sporisorium scitamineum, agente causal do carvão, que causa perdas significativas na produção e na qualidade do caldo. O uso de genótipos resistentes é o principal método de controle da doença, o que torna essencial o conhecimento das bases genéticas da resistência, favorecendo a seleção de genótipos superiores. Neste estudo, uma população F1 segregante, derivada do cruzamento entre \'IAC66-6\' e \'TUC71-7\', foi genotipada usando marcadores EST-SSR e TRAP, os quais foram alocados em um mapa prévio, visando identificar marcadores associados a locos quantitativos de resistência a esse patógeno. A incidência de carvão foi avaliada em dois ensaios realizados nos anos de 2009 e 2010, em delineamento experimental inteiramente casualizado. O principal sintoma do carvão (número de chicotes) foi tomado ao longo dos ensaios e os dados foram utilizados para o cálculo da área sob a curva de progresso da doença (AUDPC), sendo os valores de AUDPC normalizados e analisados por meio de modelos mistos. O mapeamento de locos quantitativos (QTL) seguiu a abordagem de mapeamento por intervalo composto (CIM). O mapa aqui construído contém 721 marcadores, compilando EST-SSRs, TRAPs, além de AFLPs e marcadores direcionados ao retrotransposon scIvana_1 já alocados no mapa prévio. Estes foram posicionados em 124 grupos de co-segregação, sendo 65 deles atribuídos em dez grupos de homo(eo)logia, com base em locos EST-SSR em comum. O mapa totaliza 6.223,0 cM e tem uma densidade média de um marcador a cada 8,6 cM. O uso da metodologia CIM permitiu detectar oito locos quantitativos associados à resistência de S. scitamineum, sendo quatro deles identificados na primeira avaliação, dois novos locos na segunda avaliação e dois considerando-se o comportamento médio dos genótipos nos dois anos de avaliação. Observou-se a predominância de alelos com efeitos aditivos de resistência, comparativamente aos efeitos de dominância, sendo seis deles relacionados à diminuição da suscetibilidade e quatro com o aumento. Dentre os QTL, cinco segregaram na proporção 1:1, dois 3:1 e um na proporção de 1:2:1. Os QTLs foram capazes de explicar individualmente de 3,4% a 5,7% da variação fenotípica. O QTL que explicou a maior porcentagem da variação, detectado na primeira avaliação (5,7%), foi posicionado a 5,0 cM de outro QTL considerando-se o comportamento médio dos genótipos, sugerindo que estes QTLs localizam-se na mesma região genômica. Interessantemente, um dos QTLs está posicionado em um intervalo que contém uma marca TRAP e outra ancorada no retrotransposon scIvana. Espera-se que esses resultados contribuam para estudos futuros sobre genes candidatos envolvidos na resistência, o papel dos retrotransposons na resposta da planta a patógenos, bem como possam dar subsídios a programas de seleção assistida por marcadores. / The sugarcane is exposed to several pathogens, including the fungus Sporisorium scitamineum, the smut disease´s causal agent, which causes significant losses in yield and juice quality. The use of resistant genotypes is the main strategy to control the disease, therefore it is essential the knowledge on the genetic basis of resistance for selecting superior genotypes. In this study, a F1 segregating population derived from a cross between \'IAC66-6\' and \'TUC71-7\' were genotyped using EST-SSR and TRAP markers that were placed on a prior map aiming at to identify markers associated to the smut resistance genes. The incidence of smut was evaluated in two trials performed in 2009 and 2010 in a completely randomized design. The main smut symptom (number of whips) was recorded in both trials, and data were used to calculate the area under the disease-progression curve (AUDPC). The values were normalized and analyzed using mixed models. The mapping of quantitative loci (QTL) followed the composite interval mapping (CIM) method. The map here in constructed contains 721 single dose markers compiling EST-SSRs, TRAPs as well as AFLPs and markers anchored in the retrotransposon scIvana_1, both previously allocated. Markers were positioned on 124 co-segregation groups, and 65 of them were assigned to ten groups of homo(eo)logy, based on common EST-SSR loci. The map totalized 6223.0 cM with a marker density of one marker every 8.6 cM. The use of CIM methodology allowed the detection of eight loci associated with quantitative resistance to S. scitamineum, four being identified in the first trial, two new QTLs in the second trial, and two considering the average genotype behavior in both years of evaluation. There was predominance of additive effects in comparison to the dominance effects, six of them related to decreased susceptibility and four related to increased susceptibility. Out of the QTLs, five segregated in a 1:1 ratio, two in a 3:1 ratio, and two in a 1:2:1 ratio. QTLs were able to explain individually 3.4% to 5.7% of the phenotypic variation. The QTL that explained the largest percentage of the variation, detected in the first trial (5.7%) was located at a distance of 5.0 cM from other QTL detected when considering the genotype average behavior, suggesting that these QTLs are positioned in the same genomic region. Interestingly, one QTL was located in an interval that contains a TRAP marker and a scIvana_1-anchored marker. We expect that our results contribute to future studies on disease resistance candidate genes, the role of retrotransposon in plant responses to pathogens, as well as to add marker-assisted selection programs.
26

Arquitetura genética de características quantitativas associadas ao desempenho e ao rendimento de carcaça na galinha doméstica / Genetic architecture of quantitative traits associated with performance and carcass yield in domestic fowl

Rosário, Millor Fernandes do 24 January 2008 (has links)
Estudar a arquitetura genética de uma dada característica quantitativa significa descrever os fatores genéticos e ambientais que a afetam, bem como o valor dos efeitos genéticos de cada loco e suas interações. O presente trabalho teve por objetivo geral estudar a arquitetura genética de características quantitativas associadas ao desempenho e ao rendimento de carcaça de uma população experimental oriunda do cruzamento entre uma linhagem de postura (CC) e uma de corte (TT) genotipada para marcadores microssatélites que foram associados ao peso vivo aos 42 dias na população recíproca TCTC nos cromossomos 1, 3 e 4. Para tanto, foram propostos três objetivos específicos: 1) caracterizar genotipicamente as duas populações referências (TCTC e CTCT); 2) construir mapas de ligação para a população CTCT; 3) mapear QTLs associados ao desempenho e ao rendimento de carcaça na população CTCT, utilizando o Mapeamento por Intervalo Composto (CIM). Os resultados evidenciaram que as duas linhagens parentais (CC e TT) possibilitaram a criação de gerações recíprocas F1 com elevados valores do conteúdo de informação polimórfica e heterozigosidade observada, resultado do satisfatório número de alelos verificado. Isto implica que as populações recíprocas F2, derivadas de ambas as gerações F1, são apropriadas para mapear QTLs associados ao desempenho e ao rendimento de carcaça. Adicionalmente, os mapas de ligação da população CTCT são similares ao de sua população recíproca TCTC e ao Mapa Consenso da galinha doméstica. A estimação de intervalos de confiança para as distâncias entre locos permitiu melhor entendimento das diferenças obtidas tanto no tamanho dos cromossomos quanto na ordem dos locos. Finalmente, foram observadas vantagens com o uso do CIM nas estimativas de número de QTLs mapeados e em suas posições. As regiões onde os QTLs foram mapeados neste estudo corroboram algumas daquelas da população recíproca TCTC, mas por outro lado sugerem que outras regiões do genoma dos cromossomos 1, 3 e 4 podem controlar tais características. Foram definidas duas regiões ainda não descritas na literatura no cromossomo 4: uma associada ao ganho de peso (MCW0240- LEI0063) e outra ao consumo de ração (LEI0085-MCW0174) 35-41 dias. Os resultados deste estudo podem ser explorados através do mapeamento fino, buscas in silico por genes candidatos por posição e validação em populações comerciais, a fim de implementar a seleção assistida por marcadores em programas de melhoramento genético avícolas. / Understanding the genetic architecture means to describe the genetic and environment factors that affect a quantitative trait, together with the estimation of individual genetic effects and its interactions. The aim of this work was to understand the genetic architecture of quantitative traits associated with performance and carcass yield of a chicken reference population created from crosses between a layer line (CC) and a broiler line (TT) genotyped for microsatellite markers that were associated with body weight at 42 days in its reciprocal cross on chromosomes 1, 3 and 4. Three specific topics were presented: 1) to characterize genotypically two reference populations (TCTC and CTCT); 2) to construct linkage maps in the CTCT population and 3) to map QTL associated with performance and carcass yield in CTCT population, using Composite Interval Mapping (CIM). The results showed that the two parental lines (CC and TT) created reciprocal F1 generations with suitable polymorphic information content values and observed heterozygosity, as result of the satisfactory number of alleles. This implies that the reciprocal F2 populations, derived from both F1 generations, are appropriated to map QTL associated with performance and carcass yield. The linkage maps from CTCT population were similar to its reciprocal population and to the Chicken Consensus Linkage Map. Estimating confidence intervals for distances between loci allowed the elucidation of the causes for differences both on chromosome sizes and on order loci. Finally, there were advantages in using CIM, mainly on QTL number and location. The regions where QTLs were mapped in this study not only corroborated some results from TCTC reciprocal population, but also suggested that other genome regions on chromosomes 1, 3 and 4 may control such traits. On chromosome 4 two regions were defined that were not previously described in the literature: one associated with weight gain (MCW0240-LEI0063) and another one with feed intake (LEI0085-MCW0174) at 35- 41 days. The results of this study can be explored through fine mapping, searches in silico for candidate genes and by validation in commercial populations, in order to implement marker assisted selection in poultry breeding programs.
27

Genetic Analysis of Fat Metabolism in Domestic Pigs and their Wild Ancestor

Berg, Frida January 2006 (has links)
<p>The domestication of the pig began about 9 000 years ago and many of the existing domestic breeds have been selected for phenotypic traits like lean meat and fast growth. Domestic pigs are phenotypically very different from the ancestral wild boar that has adapted to survive in their natural environment. Because of their divergence, crosses between domestic pigs and wild boars are suitable for constructing genetic maps and Quantitative trait locus (QTL) analyses. A cross between the Large White and the European wild boar was thus initiated in the late 1980s. A major QTL for fat deposition and growth, denoted <i>FAT1</i>, was found on chromosome 4. The aim of this thesis was to further characterise the <i>FAT1</i> locus and to identify the causative gene(s) and mutation(s). We have identified new markers and constructed a high-resolution linkage and RH map of the <i>FAT1</i> QTL interval. We also performed comparative mapping to the human genome and showed that the pig chromosome 4 is homologous to human chromosomes 1 and 8. The gene order is very well conserved between the two species. In parallel we have narrowed down the <i>FAT1</i> QTL interval by repeated backcrossing to the domestic Large White breed for six generations. The QTL could be confirmed for fatness but not for growth. Furthermore, the data strongly suggested that there might be more than one gene underlying the <i>FAT1</i> QTL. Depending on which hypothesis to consider, the one- or two-loci model, the <i>FAT1</i> interval can be reduced to 3,3 or 20 centiMorgan (cM), respectively, based on the backcross experiments. In the last study we confirm the two-loci model with one locus primarily effecting abdominal fat and another locus primarily effecting subcutaneous fat. We have identified a missense mutation in the <i>RXRG</i> gene which is in strong association with the abdominal fat QTL and the mutation is a potential candidate for that locus.</p><p>Brown adipose tissue (BAT) is a specific type of fat essential for non-shivering thermogenesis in mammals. Piglets appear to lack BAT and rely on shivering as the main mechanism for thermoregulation. Uncoupling protein 1 (<i>UCP1</i>) gene is exclusively expressed in BAT and its physiological role is to generate heat by uncoupling oxidative phosphorylation. We show that the <i>UCP1</i> gene has been disrupted in the pig lineage about 20 years ago. The inactivation of <i>UCP1</i> provides a genetic explanation for the poor thermoregulation in piglets. </p>
28

From the Oregon Wolfe Barley to fall-sown food barley : markers, maps, marker-assisted selection and quantitative trait loci

Chutimanitsakun, Yada 07 December 2011 (has links)
Understanding complex traits is a fundamental challenge in plant genetics and a prerequisite for molecular breeding. Tools for trait dissection are markers, maps, and quantitative trait locus (QTL) analysis. Marker-assisted selection (MAS) is an application that integrates these tools. In this thesis research, a new sequence-based marker was evaluated, maps were constructed and used, and QTLs were detected using two types of populations. Marker-assisted selection was used to develop a novel class of barley. Restriction-site Associated DNA (RAD), a sequence based-marker technology, allows for simultaneous high-density single nucleotide polymorphism (SNP) discovery and genotyping. We assessed the value of RAD markers for linkage map construction using the Oregon Wolfe Barley (OWB) mapping population. We compared a RAD-based map to a map generated using Illumina GoldenGate Assay (EST-based SNPs). The RAD markers generated a high quality map with complete genome coverage. We then used the RAD map to locate QTL for agronomic fitness traits. A paper describing this research was published (Chutimanitsakun et al., 2011). Marker-assisted selection was used to rapidly develop fall-sown barley germplasm for human food uses. The target traits were high grain β-glucan, vernalization sensitivity (VS) and low temperature tolerance (LTT). The target loci were WX and VRN-H2. Marker-assisted selection was effective in fixing target alleles at both loci and waxy starch led to increase in grain β-glucan. Unexpected segregation at VRN-H1 and VRN-H3, revealed by genome-wide association mapping (GW-AM), led to unanticipated phenotypic variation in VS and LTT. We found that GW-AM is an efficient and powerful method for identifying the genome coordinates of genes determining target traits. Precise information is obtained with perfect markers; additional research may be needed when multiple alleles are segregating at target loci and significant associations are with markers in linkage disequilibrium (LD) with the target loci. A paper describing this research will be submitted for publication. / Graduation date: 2012
29

Genetic Analysis of Fat Metabolism in Domestic Pigs and their Wild Ancestor

Berg, Frida January 2006 (has links)
The domestication of the pig began about 9 000 years ago and many of the existing domestic breeds have been selected for phenotypic traits like lean meat and fast growth. Domestic pigs are phenotypically very different from the ancestral wild boar that has adapted to survive in their natural environment. Because of their divergence, crosses between domestic pigs and wild boars are suitable for constructing genetic maps and Quantitative trait locus (QTL) analyses. A cross between the Large White and the European wild boar was thus initiated in the late 1980s. A major QTL for fat deposition and growth, denoted FAT1, was found on chromosome 4. The aim of this thesis was to further characterise the FAT1 locus and to identify the causative gene(s) and mutation(s). We have identified new markers and constructed a high-resolution linkage and RH map of the FAT1 QTL interval. We also performed comparative mapping to the human genome and showed that the pig chromosome 4 is homologous to human chromosomes 1 and 8. The gene order is very well conserved between the two species. In parallel we have narrowed down the FAT1 QTL interval by repeated backcrossing to the domestic Large White breed for six generations. The QTL could be confirmed for fatness but not for growth. Furthermore, the data strongly suggested that there might be more than one gene underlying the FAT1 QTL. Depending on which hypothesis to consider, the one- or two-loci model, the FAT1 interval can be reduced to 3,3 or 20 centiMorgan (cM), respectively, based on the backcross experiments. In the last study we confirm the two-loci model with one locus primarily effecting abdominal fat and another locus primarily effecting subcutaneous fat. We have identified a missense mutation in the RXRG gene which is in strong association with the abdominal fat QTL and the mutation is a potential candidate for that locus. Brown adipose tissue (BAT) is a specific type of fat essential for non-shivering thermogenesis in mammals. Piglets appear to lack BAT and rely on shivering as the main mechanism for thermoregulation. Uncoupling protein 1 (UCP1) gene is exclusively expressed in BAT and its physiological role is to generate heat by uncoupling oxidative phosphorylation. We show that the UCP1 gene has been disrupted in the pig lineage about 20 years ago. The inactivation of UCP1 provides a genetic explanation for the poor thermoregulation in piglets.
30

Detection of QTL affecting flesh quality traits (body lipid percentage and flesh colour) using molecular markers (microsatellites and AFLP markers) in Atlantic salmon (Salmo salar L.)

Derayat, Amid January 2009 (has links)
Flesh colour and fillet fat percentage are the two most important attributes to salmon fillet quality. A medium genetic component to body lipid percentage within commercial lines has previously been shown (h2 = 0.17-0.24). A low level of heritability (h2 = 0.16) has also been reported for flesh colour in Atlantic salmon. To investigate whether this genetic component includes loci of major effect, a genome-wide QTL scan was performed with commercially bred Atlantic salmon (Landcatch Natural Selection). Five large full-sib families (10 parents with 153 offspring) were genotyped using microsatellite markers. To utilize the large difference between sire and dam recombination rate, a two-stage genotyping was employed. Initially, the parents and offspring were genotyped for two microsatellite markers per linkage group, and sire based QTL analysis was used to detect linkage groups with significant effects on those flesh quality traits. A linear-regression based interval as analytical method was applied for QTL detection. The results revealed evidence of QTLs affecting percentage fat percentage and flesh colour on linkage groups LNS16 and LNS1 respectively. To confirm the QTL and to provide an improved estimate of position, a dam-based analysis was then employed. One major QTL was located on the genome-wide significance level for percentage fat percentage. Microsatellite marker Ssa0016NVH (at position of 1.3 cM) was found to be tightly linked to QTL affecting percentage fat percentage. In addition, a QTL affecting flesh colour was found to be flanked by microsatellite markers Ssa9.44NUIG at position of 68.7 cM and Ssa0021NVH at position of 50.6 on linkage group LNS16. The evidence for suggestive QTL affecting flesh colour on linkage group LNS1 was also revealed. In order to increase marker density within these and other linkage groups, AFLP markers were employed, 24 primer combinations resulted in a total of 489 polymorphic fragments. Among 11 fragments that were found to be linked to the microsatellite markers on linkage group LNS16, four fragments (AAG-CAC328, AGG-CAG447, AGG-CTA237 and AGG-CTC237) were tightly linked to microsatellite marker Ssa9.44NUIG, but none were found to be linked to microsatellite Ssa0021NVH. Moreover, none of the AFLP markers were found to be linked to microsatellites residing on linkage group LNS1. Using a constructed map of microsatellite and AFLP markers for linkage group LNS16, the dam based analysis revealed a significant QTL for flesh colour at the location of 189 cM, while the sire based analysis detected a significant QTL for fat percentage at the location of 80 cM. Considering the dominant nature and clustering character of AFLP markers, it was concluded that a certain primer combination in AFLP markers could be of limited use for fine mapping and QTL detection in Atlantic salmon.

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