Visscher PM Sizing up human height variation. It is supposed that the number of rare variants contributing to the genetic variation of complex traits is much lower in livestock populations than in humans [43] due to strong artificial selection and a distinctly smaller number of independent chromosomal segments [23]. A dominantly inherited white head is characteristic for animals of the Fleckvieh FV breed. Genetic Interactions Create Phantom Heritability. The past effective population size N e was estimated based on a comprehensive dataset comprising FV bulls born between and genotyped with the Illumina BovineSNP 50K Bead chip. In chapter 3, the mapping of QTL predisposing to supernumerary teats based on progeny-derived phenotypes for udder clearness is reported. Skjervold H Supernumerary Teats in Cattle.

The datasets were combined and missing genotypes were inferred using findhapV2 [28]. The pigmentation is restricted to the circumocular area and is not connected to the body pigmentation. The mixed model-based approach yielded an inflation factor of 0. Hayes B, Goddard ME The distribution of the effects of genes affecting quantitative traits in livestock. Cancer Genetics and Cytogenetics

Incorporating Medical and Surgical Dermatology 8: Its product is an exocyst component and may therefore affect lumen formation [25],[42] in supernumerary teats.

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

Correlation between chromosome length and the fraction of trait variation explained by a particular chromosome. Furthermore, dystocia seriously compromises milk production and reproductive performance of pertinently affected cows [55],[56],[57],[58]. The effect of 14 significantly associated SNPs on the proportion of daughters with ambilateral circumocular pigmentation. Population stratification in genome-wide association studies An important prerequisite for unbiased QTL mapping is homogeneity of the mapping population.

PAX3 is a transcription factor known to be involved in melanogenesis [35]. Therefore, the pairwise relationship is calculated based on pedigree and marker information, respectively. Detailed view of the region on chromosome 14 delineated by the haplotype associated with the estimated breeding value EBV for paternal calving ease pCE.


dissertation hubert pausch

The associated region on bovine chromosome 14 is conserved in human chromosome 8q21 which has been shown to be associated with adult height [22]. However, the final proof of causality remains left. The two identified QTL affect both fetal and postnatal growth parameters.

Access to large validation populations will be an indispensable prerequisite to differentiate between ‘true’ and linked effects.

Diffusion MRI sheds light on the functional segregation of the cortex, a framework known as connectivity-based cortex parcellation, whereas functional MRI reveals functional integration that describes the physiology of interactions between functionally specialized cortical units, a framework known as dynamic causal The sample size was calculated based on the formula presented by Goddard and Hayes [11].

Figure 2 presents the frequency distribution of animals with an increasing number of SNTs-predisposing alleles from 0 to 8. Since the heritability for eye-area pigmentaion is higher than for the susceptibility to BOSCC [20],[21]selection for ACOP is expected to rapidly decrease the number of affected animals [22] [17].

dissertation hubert pausch

Cancer Genetics and Cytogenetics Furthermore, association studies are more powerful than family-based linkage studies especially for dissertatiin identification of small effect variants [57],[58]. The findings confirm the proposed polygenic inheritance pattern of supernumerary teats in cattle.

Haplotype analysis Haplotypes for each chromosome region with significant association signals were reconstructed using default parameters in fastPHASE [16] and inspected by means of bifurcation plots obtained with jubert [17] to visualize recombination events and to define the length of haplotypes. Genotypes ofSNPs were imputed for animals based on haplotype information of reference animals using Minimac. Hereford Breed Journal The haplotype diversity of the entire population can be assessed by genotyping a huvert number of representative individuals with high-density SNP panels [26].


Frontiers in Livestock Genomics 2: The bulls descend from different sires and maternal grand-sires. The resulting trait is a highly heritable progeny-derived phenotype for the bulls. Quantile — quantile plots of the expected vs. As EBVs for paternal calving traits mainly reflect fetal growth, birth weight would be a more psusch phenotype to identify QTL for fetal growth.

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The identified regions often contain numerous functional candidate genes, rendering the identification of the underlying variant s a difficult task. A key factor for successfully mapping of a QTL for a complex trait with very low heritability such as pCE was the use of reliably estimated breeding values for calving traits. Risch N, Merikangas K The future of genetic studies of complex human diseases. The proportion increases nearly linearly with an increasing number of predisposing alleles.

It seems likely that the QTL identified in the present study determine both the teat number and the teat morphology even in other species than cattle. Reduction of the occurrence of SNTs is an important breeding goal in many breeding programs and highly reliably breeding values are estimated to this end.