Open Access Research article

Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations

Leonardo Murgiano1, Roberta Sacchetto2, Stefania Testoni3, Tiziano Dorotea2, Francesco Mascarello2, Rocco Liguori4, Arcangelo Gentile5 and Cord Drögemüller1*

Author Affiliations

1 Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern, Switzerland

2 Department of Comparative Biomedicine and Food Safety, University of Padua, Viale dell’Università 16, 35020, Legnaro, Italy

3 Department of Veterinary Clinical Sciences, University of Padua, Viale dell’Università 16, 35020, Legnaro, Italy

4 IRCCS Istituto di Scienze Neurologiche, Via Altura 3, 40139 Bologna and Department of Neurological Sciences, University of Bologna, Bologna, Italy

5 Department of Veterinary Medical Sciences, University of Bologna, Via Tolara di Sopra 50, 40064, Ozzano Emilia, Italy

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BMC Veterinary Research 2012, 8:186  doi:10.1186/1746-6148-8-186

Published: 9 October 2012

Additional files

Additional file 1:

PMT affected Romagnola cattle. Two young Romagnola animals during muscle exercise showing typical signs of pseudomyotonia. (MPEG 9223 kb)

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Additional file 2:

Predicted consequences of bovine SERCA1 mutations. NetSurfP and NetTurnP predicted the loss of a turn and the extension of a beta-sheet as a consequence of the p. Gly211Val mutation. This could be probably damaging considering the great interaction of the actuator domain with other parts of the protein and the numerous movements the domain is subjected to. PolyPhen2 and PoPMusiC classified the p. Gly211Val mutation as potentially damaging with the maximum possible score. The consequences of the p. Gly286Val mutation are predicted as being slightly less dramatic. The results from the transmembrane domain prediction tools are less clear-cut and identical for both new SERCA1 mutations. It is interesting to note that the residue 211 and 286 mutations are listed in general as being more fatal than the p. Arg164His. As reported [15,16], the second exon 8 mutation lies in a conserved part between M3 and M4 – we could infer hence that the part of the protein near M3 is disturbed in its stability leading to the prediction of a less likely M3 domain. The significantly reduced SERCA1 activity implicates a partial loss of function of these mutations. However, the PMT affected Romagnola animals showed no clinically obvious different disease signs compared to affected Chianina cattle. The software has been used to predict the effect of the mutation found in Belgian Blue and reported by [2]. No effect on turns or transmembrane domain is predicted (as reported by the authors who indicate the mutation as affecting a nucleotide binding domain) but is generally predicted as destructive by Poliphen and PoPMusiC (“highly damaging” by the latter). In addition, Phyre2 predicts an increase of chaos in the position.

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