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Transhumance or droving livestock to other areas during summer months is highly relevant for agriculture in central Europe. It enables the utilization of additional forage areas while reducing the work burden on the home farm and may thus lead to a higher profitability. In this study, as a first step, traits of milk performance testing of cows that had been reared at least partially (as young stock) in extensive transhumance grazing systems, were compared with those of cows that stayed (as young stock) on home farms in Austria (AT), France (FR) and Slovenia (SI). In the extensive systems analysed, transhumance to summer alpine (AT, SI), upland (FR) or Karst pastures (SI) is typically practised. With the exception of SI Fleckvieh, first lactation 305-yields of cows that were partially reared on extensive alpine, upland or Karst pastures were below those that were kept on home farms only. Apart from Holstein cows in FR and SI, SCS was however lower for cows that had experienced mountain pasture during young stock rearing. Further functional traits, i.e. fat-protein-ratio and fertility traits will be analysed.

Cattle are ideally suited to investigate the genetics of male reproduction, because semen quality and fertility are recorded for all ejaculates of artificial insemination bulls. We analysed 26,090 ejaculates of 794 Brown Swiss bulls to assess ejaculate volume, sperm concentration, sperm motility, sperm head and tail anomalies and insemination success. The heritability of the six semen traits was between 0 and 0.26. Genome-wide association testing on 607,511 SNPs revealed a QTL on bovine chromosome 6 that was associated with sperm motility (P = 2.5 x 10-27), head (P = 2.0 x 10-44) and tail anomalies (P = 7.2 x 10-49) and insemination success (P = 9.9 x 10-13). The QTL harbors a recessive allele that compromises semen quality and male fertility. We replicated the effect of the QTL on fertility (P = 7.1 x 10-32) in an independent cohort of 2481 Brown Swiss bulls. The analysis of whole-genome sequencing data revealed that a synonymous variant (BTA6:58373887C>T, rs474302732) in WDR19 encoding WD repeat-containing protein 19 was in linkage disequilibrium with the fertility-associated haplotype. WD repeat-containing protein 19 is a constituent of the intraflagellar transport complex that is essential for the physiological function of motile cilia and flagella. Bioinformatic and transcription analyses revealed that the BTA6:58373887 T-allele activates a cryptic exonic splice site that eliminates three evolutionarily conserved amino acids from WDR19. Western blot analysis demonstrated that the BTA6:58373887 T-allele decreases protein expression. We make the remarkable observation that, in spite of negative effects on semen quality and bull fertility, the BTA6:58373887 T-allele has a frequency of 24% in the Brown Swiss population. Our findings are the first to uncover a variant that is associated with quantitative variation in semen quality and male fertility in cattle.

Background Haplotypes with reduced or missing homozygosity may harbor deleterious alleles that compromise juvenile survival. A scan for homozygous haplotype deficiency revealed a short segment on bovine chromosome 19 (Braunvieh haplotype 2, BH2) that was associated with high juvenile mortality in Braunvieh cattle. However, the molecular genetic underpinnings and the pathophysiology of BH2 remain to be elucidated. Results The frequency of BH2 was 6.5 % in 8,446 Braunvieh animals from the national bovine genome databases. Both perinatal and juvenile mortality of BH2 homozygous calves were higher than the average in Braunvieh cattle resulting in a depletion of BH2 homozygous adult animals (P = 9.3x10−12). The analysis of whole-genome sequence data from 54 Braunvieh animals uncovered a missense mutation in TUBD1 (rs383232842, p.H210R) that was compatible with recessive inheritance of BH2. The availability of sequence data of 236 animals from diverse bovine populations revealed that the missense mutation also segregated at a low frequency (1.7 %) in the Fleckvieh breed. A validation study in 37,314 Fleckvieh animals confirmed high juvenile mortality of homozygous calves (P = 2.2x10−15). Our findings show that the putative disease allele is located on an ancestral haplotype that segregates in Braunvieh and Fleckvieh cattle. To unravel the pathophysiology of BH2, six homozygous animals were examined at the animal clinic. Clinical and pathological findings revealed that homozygous calves suffered from chronic airway disease possibly resulting from defective cilia in the respiratory tract. Conclusions A missense mutation in TUBD1 is associated with high perinatal and juvenile mortality in Braunvieh and Fleckvieh cattle. The mutation is located on a common haplotype likely originating from an ancient ancestor of Braunvieh and Fleckvieh cattle. Our findings demonstrate for the first time that deleterious alleles may segregate across closed cattle breeds without recent admixtur

The number of publications performing genome-wide association studies (GWAS) has increased dramatically. Penalized regression approaches have been developed to overcome the challenges caused by the high dimensional data, but these methods are relatively new in the GWAS field. In this study we have compared the statistical performance of two methods (the least absolute shrinkage and selection operator—lasso and the elastic net) on two simulated data sets and one real data set from a 50 K genome-wide single nucleotide polymorphism (SNP) panel of 5570 Fleckvieh bulls. The first simulated data set displays moderate to high linkage disequilibrium between SNPs, whereas the second simulated data set from the QTLMAS 2010 workshop is biologically more complex. We used cross-validation to find the optimal value of regularization parameter λ with both minimum MSE and minimum MSE + 1SE of minimum MSE. The optimal λ values were used for variable selection. Based on the first simulated data, we found that the minMSE in general picked up too many SNPs. At minMSE + 1SE, the lasso didn't acquire any false positives, but selected too few correct SNPs. The elastic net provided the best compromise between few false positives and many correct selections when the penalty weight α was around 0.1. However, in our simulation setting, this α value didn't result in the lowest minMSE + 1SE. The number of selected SNPs from the QTLMAS 2010 data was after correction for population structure 82 and 161 for the lasso and the elastic net, respectively. In the Fleckvieh data set after population structure correction lasso and the elastic net identified from 1291 to 1966 important SNPs for milk fat content, with major peaks on chromosomes 5, 14, 15, and 20. Hence, we can conclude that it is important to analyze GWAS data with both the lasso and the elastic net and an alternative tuning criterion to minimum MSE is needed for variable selection.