Big dairy data to unravel effects of environmental, physiological and morphological factors on milk production of mountain-pastured Braunvieh cows

The transhumance system, which consists in moving animals to high mountain pastures during summer, plays a considerable role in preserving both local biodiversity and traditions, as well as protecting against natural hazard. In cows, particularly, milk production is observed to decline as a response to food shortage and climatic stress, leading to atypical lactation curves that are barely described by current lactation models. Here, we relied on 5 million monthly milk records from over 200 000 Braunvieh and Original Braunvieh cows to devise a new model accounting for transhumance, and test the influence of environmental, physiological and morphological factors on cattle productivity. Counter to expectations, environmental conditions in the mountain showed a globally limited impact on milk production during transhumance, with cows in favourable conditions producing only 10% more compared with cows living in detrimental conditions, and with precipitation in spring and altitude revealing to be the most production-affecting variables. Conversely, physiological factors such as lactation number and pregnancy stage presented an important impact over the whole lactation cycle with 20% difference in milk production, and alter the way animals respond to transhumance. Finally, the considered morphological factors (cow height and foot angle) presented a smaller impact during the whole lactation cycle (10% difference in milk production). The present findings help to anticipate the effect of climate change and to identify problematic environmental conditions by comparing their impact with the effect of factors that are known to influence lactation

Braunvieh: Wie viel Kreuzung erträgt die Zucht?

Viele Schweizer Milchviehbetriebe bringen mehr Original-Braunvieh-Blut in ihre Braunviehherden. Ziel ist es vor allem, die Robustheit der Tiere zu verbessern. Etwas tiefere Milchleistungen nehmen die Züchterinnen und Züchter dafür in Kauf. Eine vom FiBL angeregte Studie legt nun den Schluss nahe, dass man, statt einzukreuzen, genauso gut auf reine Original-Braunvieh-Tiere setzen kann

Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B- associated dysplasia: an important distinction

Background: Fibrodysplasia Ossificans Progressiva (FOP; OMIM #135100) is an ultrarare genetic disorder characterised by congenital bilateral hallux valgus (CBHV), intermittent soft tissue swellings and progressive heterotopic ossification. We report a three-month-old girl with great toe abnormalities similar to FOP, in whom comprehensive clinical workup and genetic investigations illustrates an alternative diagnosis. Case presentation: A three-month-old girl presented with CBHV. The antenatal period was unremarkable, she was born by spontaneous vaginal delivery with an uneventful subsequent course, except for maternal concern of her bent toes which received reassurance from several health professionals. Her mother’s persisting concerns were explored via the internet and social media leading her to request referral to an expert bone centre for consideration of FOP. On examination, she was thriving, there was no dysmorphism, subcutaneous lumps, skeletal or extra-skeletal deformity except for shortened great toes with lateral deviation of the proximal and distal phalanges. FOP was a feasible diagnosis, for which CBHV is highlighted as an early sign. A cautionary potential diagnosis of FOP was counselled, including advice to defer intramuscular immunisations until genetic results available. Genetic investigation was undertaken through rapid whole genomic sequencing (WGS), with analysis of data from a skeletal dysplasia gene panel, which demonstrated no ACVR1variants. The only finding was a heterozygous variant of unknown significance in BMPR1B (c1460T>A, p.(Val487Asp)), which encodes a bone morphogenic receptor involved in brachydactyly syndromes A1, A2 and D and acromesomelic dysplasia 3 (only the latter being an autosomal recessive condition). Conclusion: This report highlights that CBHV serves as a vital diagnostic indicator of FOP and affected infants should be considered and investigated for FOP, including precautionary management whilst awaiting genetic studies. The second educational aspect is that CBHV may not represent a generalised skeletal disorder, or one much less significant than FOP. Receptor-ligand BMP and Activins mediated interactions are instrumental in the intricate embryology of the great toe. Recognition of non-FOP conditions caused by alterations in different genes are likely to increase with new genomic technology and large gene panels, enhancing understanding of bone signaling pathways

Populationsstruktur und genetische Diversität von Schweizer Schafrassen

Das Jahr 2010 wurde von den Vereinten Nationen zum Jahr der Biodiversität erklärt. Der Schweizerische Schafzuchtverband stellte in diesem Kontext Herdebuchdaten der vier grössten Schweizer Schafrassen zur Analyse der genetischen Diversität zur Verfügung. Untersucht wur-den das Braunköpfige Fleischschaf (BFS; n=10 858), das Schwarzbraune Bergschaf (SBS; n=10 964), das Walliser Schwarznasenschaf (SN; n=14 371) und das Weisse Alpenschaf (WAS; n=32 169). Die Analysen beruhen auf allen Herdebuchtieren der Geburtsjahre 1996–2008 und ihren Ahnen bis und mit Geburtsjahr 1970. Ausgewertet wurden die Daten mit gängiger Software für populationsgenetische Fragestellungen. Die grösste Zunahme beim mittleren Inzuchtkoeffizienten konnte im untersuchten Zeitraum bei der Rasse SN (5,9 → 9,3 %) gefolgt von denRassen BFS (2,4 → 4,3 %), SBS (2,4 → 3,8 %) und WAS (1,4 → 2,5 %) beobachtet werden. Obwohl die Inzuchtraten im Zeitraum 1996 bis 2008 teilweise starke Schwankungen aufwiesen, zeigte sich bei allen vier Rassen grundsätzlich ein steigender Trend. Damit einher ging ein sinkender Trend bei der effektiven Populationsgrösse. Die grösste Anzahl an effektiven Gründertieren, Ahnen und Gründergenomen fanden sich beim weissen Alpenschaf. Bei allen vier Rassen war bei diesen drei Parametern im Laufe der Jahre eine sinkende Tendenz erkennbar, wobei die Abnahme bei der Rasse WAS im Vergleich mit den anderen Rassen viel ausgeprägter war. Ein weiterer Indikator für eine abnehmende genetische Vielfalt von 1996 bis 2008 ist der marginale Genanteil des wichtigsten Ahnen. Dieser ist bei allen vier Rassen angestiegen (SN 11,05 → 19,79 %; BFS 7,67 →11,27 %; SBS 4,45 → 5,19 %; WAS 2,84 →4,69 %).Aufgrund der Ergebnisse stellt sich die Frage nach gezielten Managementmassnahmen nur bei der SN-Population. Bei den anderen drei Rassen sollten die Trends der genetischen Diversitäts-parameter jedoch regelmässig überprüft werden

Mutations that affect the surface expression of TRPV6 are associated with the upregulation of serine proteases in the placenta of an infant

Recently, we reported a case of an infant with neonatal severe under-mineralizing skeletal dysplasia caused by mutations within both alleles of the TRPV6 gene. One mutation results in an in frame stop codon (R(510)stop) that leads to a truncated, nonfunctional TRPV6 channel, and the second in a point mutation (G(660)R) that, surprisingly, does not affect the Ca(2+) permeability of TRPV6. We mimicked the subunit composition of the unaffected heterozygous parent and child by coexpressing the TRPV6 G(660)R and R(510)stop mutants and combinations with wild type TRPV6. We show that both the G(660)R and R(510)stop mutant subunits are expressed and result in decreased calcium uptake, which is the result of the reduced abundancy of functional TRPV6 channels within the plasma membrane. We compared the proteomic profiles of a healthy placenta with that of the diseased infant and detected, exclusively in the latter two proteases, HTRA1 and cathepsin G. Our results implicate that the combination of the two mutant TRPV6 subunits, which are expressed in the placenta of the diseased child, is responsible for the decreased calcium uptake, which could explain the skeletal dysplasia. In addition, placental calcium deficiency also appears to be associated with an increase in the expression of proteases

Mutations That Affect the Surface Expression of TRPV6 Are Associated with the Upregulation of Serine Proteases in the Placenta of an Infant

Recently, we reported a case of an infant with neonatal severe under-mineralizing skeletal dysplasia caused by mutations within both alleles of the TRPV6 gene. One mutation results in an in frame stop codon (R510stop) that leads to a truncated, nonfunctional TRPV6 channel, and the second in a point mutation (G660R) that, surprisingly, does not affect the Ca2+ permeability of TRPV6. We mimicked the subunit composition of the unaffected heterozygous parent and child by coexpressing the TRPV6 G660R and R510stop mutants and combinations with wild type TRPV6. We show that both the G660R and R510stop mutant subunits are expressed and result in decreased calcium uptake, which is the result of the reduced abundancy of functional TRPV6 channels within the plasma membrane. We compared the proteomic profiles of a healthy placenta with that of the diseased infant and detected, exclusively in the latter two proteases, HTRA1 and cathepsin G. Our results implicate that the combination of the two mutant TRPV6 subunits, which are expressed in the placenta of the diseased child, is responsible for the decreased calcium uptake, which could explain the skeletal dysplasia. In addition, placental calcium deficiency also appears to be associated with an increase in the expression of proteases