In silico identification and three-dimensional modelling of the missense mutation in ADAMTS2 in a sheep flock with dermatosparaxis

Background Dermatosparaxis (Ehlers–Danlos syndrome in humans) is characterized by extreme fragility of the skin. It is due to the lack of mature collagen caused by a failure in the enzymatic processing of procollagen I. We investigated the condition in a commercial sheep flock. Hypothesis/Objectives Mutations in the ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2) locus, are involved in the development of dermatosparaxis in humans, cattle and the dorper sheep breed; consequently, this locus was investigated in the flock. Animals A single affected lamb, its dam, the dam of a second affected lamb and the rams in the flock were studied. Methods DNA was purified from blood, PCR primers were used to detect parts of the ADAMS2 gene and nucleotide sequencing was performed using Sanger's procedure. Skin samples were examined using standard histology procedures. Results A missense mutation was identified in the catalytic domain of ADAMTS2. The mutation is predicted to cause the substitution in the mature ADAMTS2 of a valine molecule by a methionine molecule (V15M) affecting the catalytic domain of the enzyme. Both the ‘sorting intolerant from tolerant’ (SIFT) and the PolyPhen-2 methodologies predicted a damaging effect for the mutation. Three-dimensional modelling suggested that this mutation may alter the stability of the protein folding or distort the structure, causing the protein to malfunction. Conclusions and clinical importance Detection of the mutation responsible for the pathology allowed us to remove the heterozygote ram, thus preventing additional cases in the flock.

Investigating early years teachers’ understanding and response to children’s preconceptions

This paper focuses on young children’s scientific preconceptions and discusses teachers’ identification of these preconceptions when teaching science in the early years, on which research is still limited. This paper is based on the theoretical framework of constructivism and it defines preconceptions as children’s erroneous concepts prior to formal education. A two phase case study approach was employed, facilitating in-depth investigation though the use of questionnaires, interviews and observations. The results indicate that the teachers did not dedicate time to identify children’s preconceptions when planning and teaching science, even when acknowledging preconceptions’ possible existence. This indicates a possible lack of appreciation of the importance of children’s preconceptions of the consequences when ignoring them. The results also indicate the need for further training and professional development in relation to the teaching of early-years science, especially since only a very small percentage of early years teachers tend to study science during their years compulsory education. A number of suggestions are also provided for practice and policy that can be useful for other subjects as well.

Di madre in figlia: la trasmissione della cultura scrittoria in casa Tarabotti: Maria e le figlie

Transcription and analysis on uncovered documents from the State Archives in Venice for the exhibit held at Palazzo Mocenigo in spring 2014.