The results confirm that ambilateral circumocular pigmentation ACOP is highly heritable in cattle [80]. Direct phenotypes for ACOP were not available for the genotyped animals. The appearance of SNTs ranges from rudimentary buds to fully developed teats. The blue line is a linear regression line. Complex traits are determined by a limited number of loci explaining a large fraction of the genetic variation and a large number of of loci with infinitesimal effects. Figure 3 shows the frequency distribution of animals with an increasing number of alleles from 1 to 16 predisposing to an increased number of progeny with ACOP.

A white head is characteristic for animals of the Fleckvieh FV breed. Therefore, they do not allow to unravel non-additive effects. A major fraction of the phenotypic variation is attributable to BTA5 Figure 3 shows the frequency distribution of animals with an increasing number of alleles from 1 to 16 predisposing to an increased number of progeny with ACOP. Red symbols indicate genes re-sequenced in the present study. Brka M, Reinsch N, Kalm E Determination of the inheritance pattern of hyperthelia in cattle by maximum likelihood analysis 1.

Annual Review of Cell and Developmental Biology Anderson DE Genetic study of eye cancer in cattle.

hubert pausch dissertation

The successful imputation of high-density genotype information increased the power of the GWAS and enabled the mapping of QTL that account for a minor part of the genetic variation only. Hubery similar mechanism is plausible for eye-area pigmentation in cattle. Visscher PM, Haley CS Detection of putative quantitative trait loci in line crosses under infinitesimal genetic models.

Caudal SNTs are the most frequent abnormality [3].

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

The GWAS in Chapter 4 identified candidate genes for eye-area pigmentation that are well known to interact in a complex fashion, however bubert data did not allow to quantify the extent of non-additive effects. Trends in Molecular Medicine However, the final proof of causality remains left.


Thus the genetic architecture of the UC DYD is characterized by a large number of genes with small effects and only few genes with major effects, as it is typical for many complex quantitative traits [28].

Nature Cell Biology Stillbirth is recorded as categorical trait alive or not 48 hubbert post partum.

Qianqian Zhang: Towards Cattle Precision Breeding Using Next Generation Sequencing

The findings of this thesis support this hypothesis, as a small number of QTL with medium to large effects was identified for each of the analysed traits. However, as the number of re-sequenced animals is still limited, the current assembly relies on sequence information of a single animal and still contains a significant number of gaps [31].

hubert pausch dissertation

Red colour indicates the putative functional candidate gene. Chapter 4 reports a genome-wide association study for a special aspect of skin pigmentation in cattle.

The heatmap displays the pairwise linkage disequilibrium. Reduction of the occurrence of SNTs is an important breeding goal in many breeding programs and highly reliably breeding values are estimated to this huebrt.

Thus detected SNPs enable to compile high-throughput genotyping arrays interrogating a large number of polymorphic sites simultaneously [23],[24].

Pausch, Hubert, Prof. Dr. | ETH Zurich

The prevention of malformations of the mammary gland such as inverted teats is a major objective of swine breeding. The size of QTL effects is breed specific as allele frequencies differ among breeds [8],[9]. A widely-used approach to account for the contribution of relatives is de-regressing disaertation EBVs and weighting the information source appropriately [8].


The barplots display the proportion of correctly imputed genotypes averaged over six chromosomes for four different scenarios with increasing sizes of the reference population. It ranged from 0 to Hubert Pausch has a forward-looking vision of customized livestock breeding. Inheritance of Eyelid Pigmentation. The contribution of particular chromosomes varies strongly Figure 3. Training Course in Research Groups Small.

hubert pausch dissertation

Implementation of genotype information in breeding programs The availability of high-density SNP panels resulted in major modifications of cattle breeding programs. Forni S, Aguilar I, Misztal I Different genomic relationship matrices for single-step analysis using phenotypic, pedigree and genomic information.

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Pigmentation around the eyes is highly correlated with eye-lid and corneoscleral pigmentation [22]. Calving traits are complex as they are influenced by sire-effects through the size of the calf as well as by dam-effects consisting mainly of the pelvic dimensions. Introduction Supernumerary teats hyperthelia, SNTs represent a common abnormality of the bovine udder.

The GWAS was performed using a mixed model based approach to account for population stratification and with daughter yield deviations for udder clearness as phenotypes. A The results for the principal components analysis PCA -based and for the mixed model-based approach to hubeft for population stratification are shown above and below the horizontal line, respectively.