A frameshift mutation in ARMC3 is associated with a tail stump sperm defect in Swedish Red (Bos taurus) cattle

Background: Artificial insemination is widely used in many cattle breeding programs. Semen samples of breeding bulls are collected and closely examined immediately after collection at artificial insemination centers. Only ejaculates without anomalous findings are retained for artificial insemination. Although morphological aberrations of the spermatozoa are a frequent reason for discarding ejaculates, the genetic determinants underlying poor semen quality are scarcely understood. Results: A tail stump sperm defect was observed in three bulls of the Swedish Red cattle breed. The spermatozoa of affected bulls were immotile because of severely disorganized tails indicating disturbed spermatogenesis. We genotyped three affected bulls and 18 unaffected male half-sibs at 46,035 SNPs and performed homozygosity mapping to map the fertility disorder to an 8.42 Mb interval on bovine chromosome 13. The analysis of whole-genome re-sequencing data of an affected bull and 300 unaffected animals from eleven cattle breeds other than Swedish Red revealed a 1 bp deletion (Chr13: 24,301,425 bp, ss1815612719) in the eleventh exon of the armadillo repeat containing 3-encoding gene (ARMC3) that was compatible with the supposed recessive mode of inheritance. The deletion is expected to alter the reading frame and to induce premature translation termination (p.A451fs26). The mutated protein is shortened by 401 amino acids (46 %) and lacks domains that are likely essential for normal protein function. Conclusions: We report the phenotypic and genetic characterization of a sterilizing tail stump sperm defect in the Swedish Red cattle breed. Exploiting high-density genotypes and massive re-sequencing data enabled us to identify the most likely causal mutation for the fertility disorder in bovine ARMC3. Our results provide the basis for monitoring the mutated variant in the Swedish Red cattle population and for the early identification of infertile animals.Peer reviewe

Optimisation of Acetic Acid Lignofibre Organosolv Process

Birch wood chips were cooked in acetic acid in the presence of phosphinic acid according to the Lignofibre (LGF) organosolv process. The cooking trials were performed according to an experimental design with process time, temperature, and the presence (or absence) of alkaline pre-extraction as the factors. Delignification was enhanced by increased temperature and alkaline pre-extraction. Alkaline extraction also limited xylose hydrolysis, as well as the further degradation of xylose into furfural. Degradation and condensation reactions began to take place between dissolved carbohydrates and lignin at higher temperatures and longer cooking times. Formation of pseudolignin, most likely because of reactions between lignin and furfural, was also observed under the harshest cooking conditions. To avoid these unwanted side-reactions, minimise viscosity losses, and preserve the yield, the LGF process time should be limited to 3 to 4 h at 150 °C

Optimisation of acetic acid lignofibre organosolv process

Birch wood chips were cooked in acetic acid in the presence of phosphinic acid according to the Lignofibre (LGF) organosolv process. The cooking trials were performed according to an experimental design with process time, temperature, and the presence (or absence) of alkaline pre-extraction as the factors. Delignification was enhanced by increased temperature and alkaline pre-extraction. Alkaline extraction also limited xylose hydrolysis, as well as the further degradation of xylose into furfural. Degradation and condensation reactions began to take place between dissolved carbohydrates and lignin at higher temperatures and longer cooking times. Formation of pseudolignin, most likely because of reactions between lignin and furfural, was also observed under the harshest cooking conditions. To avoid these unwanted side-reactions, minimise viscosity losses, and preserve the yield, the LGF process time should be limited to 3 to 4 h at 150 °C