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Thesis (M.S.)--Rochester Institute of Technology, 2009. / Typescript. Includes bibliographical references (leaves 56-59).

Doctor of Philosophy / Genetics Interdepartmental Program / Christopher Toomajian / Secondary metabolites (SMs), low molecular weight molecules that are not essential for normal organism growth and development, may confer a selective advantage in some environments. Fungal SMs are structurally and functionally diverse and include mycotoxins, plant regulators and pigments, and the genes that work together in SM biosynthetic pathways are physically clustered in the genome. Fusarium, a genus of filamentous fungi, is noted for SM production, especially mycotoxins, which may contribute to plant pathogenesis. Fusarium species exhibit differences in their SM profiles, and comparative genomics studies have found corresponding differences in the SM gene clusters in some Fusarium species. The investigation of differences in the genomes and SM gene clusters between closely related species, such as F. proliferatum and F. fujikuroi, may help explain their phenotypic divergence, including differences in SM profiles. In addition, the study of intra-species SM variation may indicate how SM loci affect a pathogen’s fitness traits. My research includes three main projects that address different aspects of Fusarium SM variability. To carry out my projects, I established a feasible Genotyping-by-Sequencing (GBS) protocol for Fusarium. One project explored the genetic bases underlying phenotypic divergence related to SM profiles and pathogenicity between F. proliferatum and F. fujikuroi using a quantitative genetics approach. Specifically, I 1) constructed the first high density genetic map based on progeny from an interspecific cross between these two species; and 2) detected a novel regulatory locus for gibberellic acid production and identified a region affecting onion virulence that includes the fumonisin gene cluster. The second project characterized the F. proliferatum parent genome from the previous cross and its SM gene clusters using a comparative genomics approach. Specifically, I 1) assembled the F. proliferatum genome into 12 chromosomes with a combined length of ~43 Mb; 2) annotated this assembly and characterized its 50 SM gene clusters; and 3) detected over 100 F. proliferatum specific genes that might play roles in this species’ host specificity and plant pathogenicity. The third project used a population genomics approach to explore how different F. graminearum chemotypes, or isolates classified based on the accumulation of alternate trichothecene toxin types, may differ for fitness traits and whether trichothecene genes are directly responsible for these differences. Specifically, I 1) genotyped over 300 F. graminearum strains from New York and the upper Midwest in the U.S. and from South America using our GBS protocol; 2) detected two major subpopulations that were correlated, though imperfectly, to the predicted 3-acetyl deoxynivalenol (3ADON) and 15-acetyl deoxynivalenol (15ADON) chemotypes in the U.S.; 3) identified a rapid linkage disequilibrium decay over a few tens of kb followed by a slower decay to background levels over a distance of 200 kb to 400 kb in selected subpopulations in the U.S.; and 4) found that neither chemotype has a clear fitness advantage in a small set of isolates from New York, but that isolates belonging to one genetic subpopulation may on average have a fitness advantage over isolates from the other subpopulation.

Includes bibliographical references (p. 106-118).

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The aims of this thesis were to investigate whether characteristics associated with animal welfare are genetically and genomically determined by using quantitative and molecular genetic approaches and to develop strategies indicating how these traits could be used in breeding programmes. Two traits that are closely related to animal welfare and associated with high socio-economic values are piglet survival at birth and aggressive behaviour in pigs. Piglet survival traits were analysed based on quantitative Bayesian approaches using phenotypic and pedigree information only, while aggressive behaviour was analysed based on molecular genetic approaches such as genome-wide association studies and genomic selection using additionally a dense panel of single nucleotide polymorphisms (SNP). The latter approach was validated using behavioural traits related to welfare characteristics in a welldocumented mouse data set. Selection for piglet survival at birth is expected to be effective, because all lines and breeds in this thesis showed considerable variation for this trait and relatively high heritabilities, particularly in lines with low average birth weight. Maternal heritabilities of individual birth weight were mostly at moderate magnitude and thus of great interest for selection. The genetic correlations between piglet survival and birth weight indicated that selection for either individual or average birth weight or variation of birth weight within litter would indirectly increase survival. The genetic associations of piglet survival with economically important (re)production traits are of great importance for breeding organisations. Undesirable genetic correlations between piglet survival and (re)production traits were generally of low magnitude, so that simultaneous improvement of all traits could be achieved. A comparison of five breeds and lines showed that differences in genetic parameters between breeds and lines can be substantial and no single selection strategy would be optimal for all. A unique study of a sire and a dam line originating from one breed but selected for more than 25 years with different breeding goals demonstrated how selection pressure can alter the genetic parameters over years. Breeding organisations should therefore consider selection strategies per breed or line individually to achieve maximum overall improvement. This study gives new insight into the use of genomic selection for traits associated with animal welfare. It is one of the first to present estimates for linkage disequilibrium in the pig using a new 60K SNP panel and the first to evaluate the efficiency of genomic selection against aggressive behaviour in pigs. Genomic selection showed a high predictive ability in comparison to traditional polygenic selection. It was especially advantageous for traits with lower heritabilities. In particular in situations where little family information was available, the performance of polygenic selection was low and genomic selection increased the performance considerably. Reducing the number of SNPs did not significantly change the performance of genomic selection. The consistently high performance across models indicates that low-density SNP panels may be sufficient to ensure a high efficiency of genomic selection, thus reducing the high costs associated with genotyping in pig breeding with its short generation interval. To summarize, this thesis has shown how to optimise quantitative and genomic approaches to improve animal welfare related characteristics efficiently in pig breeding programmes.

The present study aimed to gain better insights into the distribution of genomic variation, in the form of single nucleotide polymorphisms, within the human genome.  Using set theory, the average SNP density of the human genome was found to be 2.6 SNPs per kilobase.  This figure decreased with increasing evolutionary depth, i.e. conservation.  The conserved exonic, intronic subsets had a lower SNP density than the conserved intergenic subset, suggesting that the conserved exonic and intronic regions are under similar strengths of selective pressure while conserved intergenic regions are under a comparatively weaker selective pressure.  To better understand allelic differences on protein-DNA interactions, an algorithm was designed that scored the difference in binding site prediction for the alleles of an SNP.  The program created, RegSNP, was demonstrated to be more accurate than existing resources, and gives results that are relevant of SNP within binding sites in the literature. A further aim of the present study was to isolate potential regulatory regions of the GAL gene, that has been linked to diseases such as obesity and depression, and identify polymorphisms that may alter transcription factor binding.  One excellent candidate element was found by comparative genomics, Gal5.1, and confirmed by transgenic analysis as a transcriptional enhancer element.  Gal5.1, contained a single SNP that RegSNP predicted to interrupt a thyroid hormone receptor binding site.  However, using transgenic animal and cell biology techniques it was concluded that thyroid hormone receptor does not directly interact with the Gal5.1 element, suggesting that the Gal5.1 element must work in synergy with the GAL promoter to stimulate transcription.