HUBERT PAUSCH DISSERTATION

LEF1 mediated Wnt signalling is required for the morphogenesis of the mammary gland during embryogenesis [22], while DKK2 acts as an inhibitor of the canonical Wnt signalling [23]. Quality of the current bovine genome build The chromosomal position of the SNPs as well as the gene content of associated genomic regions was determined based on the UMD3. Cole J PyPedal: To identify QTL underlying calving ease, we performed a genome- wide association study using estimated breeding values EBVs as highly heritable phenotypes for paternal calving ease pCE and related traits. American Journal of Medical Genetics Previous studies evidenced that KIT alleles acting in a dominant fashion completely inhibit pigmentation in pigs [57]. Re- sequencing a small number of key animals enables to assess a large fraction of the global genomic variation of livestock populations [2],[3].

Research area The main research area of Hubert Pausch is the development and implementation of statistical and bioinformatic approaches for combining sequence data from key animals in a population with incomplete data from animals from the genomic selection. The methods used in exploiting the use of whole genome sequence variants can be useful in studying other livestock species. A major part of the ‘missing heritability’ [41] is most likely attributable to numerous undetected loci with small effects [42]. Genome-wide association study A genome-wide association study was performed using a variance components based approach to account for population stratification and to eliminate the resulting inflation of false positive associations. Missing genotypes of individuals genotyped at a lower density can be imputed accurately based on high- density haplotype information. Previous studies evidenced that KIT alleles acting in a dominant fashion completely inhibit pigmentation in pigs [57]. A variance components based approach to account for population stratification uncovered twelve QTL regions on seven chromosomes.

A high density linkage map of the bovine genome. Thus, MAS based on the identified QTL for calving ease might add a valuable tool to reduce the incidence hubetr dystocia in cattle.

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Mechanisms of Development Hereford Breed Journal Using pedigree information, the heritability i. The remaining samples exhibited an average genotyping rate of Genetics [Internet] [cited Dec 14];Available from: Increasing the sample size and applying denser SNP panels might allow for the identification of additional QTL with smaller effects [3], however the number of detectable QTL is even limited in large scale GWAS [15] and depends on the genetic architecture of the trait [16],[17].

hubert pausch dissertation

Assessment of the genomic variation in a cattle population based on low-coverage re-sequencing. The proportion of trait variance explained by an average QTL is very small. SNTs may be positioned at the rear udder caudalbetween the normal front and rear teats intercalary or as appendix of normal teats ramal.

Anderson DE Genetic aspects of cancer with special reference to cancer of the eye in the bovine. To quantify the benefit of a high-density SNP map, the genomic relationship based on only 43, SNPs, which were genotyped in all animals, was estimated additionally. Andersson L Genetic dissection of phenotypic diversity in farm animals.

The GWAS in Chapter 4 identified candidate genes for eye-area pigmentation that are well known to interact in a complex fashion, however the data did not allow to quantify the extent of non-additive effects. C Heatmap of the pairwise linkage disequilibrium r2.

(PDF) Genome-wide analysis of complex traits in cattle | Hubert Pausch –

However, progeny-derived phenotypes act purely additively as they are not directly assessed in the genotyped animals.

Quality of the current bovine genome build The chromosomal position of the SNPs as well as the gene content of associated genomic regions was determined based on the UMD3.

hubert pausch dissertation

TBX3 is regulated as downstream target of Wnt signalling [24]. The case of the missing heritability.

Qianqian Zhang: Towards Cattle Precision Breeding Using Next Generation Sequencing

Animals showing major discrepancies of the pedigree and genomic relationship were omitted. Stars represent significantly associated SNPs after correction for population stratification with both models, open circles represent SNPs that are significantly associated diseertation the mixed model- based approach, only.

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FBF for sharing genotype data. Furthermore, the P-values obtained using the high-density SNP panel are clearly smaller than those obtained using the medium-density SNP panel Figure 3.

After square root transformation, Sophisticatedly implemented algorithms allow for the efficient computation of large-scale mixed-model based GWAS e. However, recent investigations also indicate, that genetic interactions might cause ‘phantom heritability’, implying an inflation of pedigree-based heritability estimates [40].

Wiener G Nubert teats in cattle. The results of the present thesis imply that applying denser SNP panels is beneficial in the FV population Table 1 which agrees with previous simulation experiments in cattle [46]. Dekkers JCM Commercial application of marker- and gene-assisted selection in livestock: However, the characteristics of distinct cattle populations differ considerably [31].

Pausch, Hubert, Prof. Dr. | ETH Zurich

Journal of Animal Science 7: The correlation of dissertwtion with growth-related traits and the coincident QTL point to fetal growth and the resulting birth weight as major determinant for the ease of delivery [25],[26]. Genome-wide association studies based on genome-wide SNP panels offer a new powerful approach to identify genomic regions underlying phenotypic variation QTL of complex traits.

Identification of functional genes in the associated regions QTL that were significantly associated in at least one of the applied models were considered for the identification of genes known to be involved in mammary gland development. In areas where animals are exposed to increased solar ultraviolet radiation, ACOP is associated with disseryation reduced susceptibility to bovine ocular squamous cell carcinoma BOSCC, eye cancer.

hubert pausch dissertation