Open Access Highly Accessed Research article

A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs

Leonardo Murgiano1, Imke Tammen2, Barbara Harlizius3 and Cord Drögemüller1*

Author Affiliations

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

2 ReproGen, Faculty of Veterinary Science, The University of Sydney, Camden, NSW, 2570, Australia

3 Institute for Pig Genetics BV, PO Box 43, Beuningen, 6640 AA, The Netherlands

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BMC Genetics 2012, 13:99  doi:10.1186/1471-2156-13-99

Published: 15 November 2012

Additional files

Additional file 1:

Video showing signs of the condition.

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Additional file 2:

Figure S1.(A) Gene structure of human and porcine MHY7 gene. The position of the identified CPS mutation is indicated by a red arrow. (B) Human myosin VII protein and location of known disease causing mutations within the regions encoded by exons 30 to 32. Modified from Klaassen et al. [19] (Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction (LVNC), dilated cardiomyopathy (DCM), myosin storage myopathy (MSM), Laing early onset distal myopathy (MPD1)).

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Additional file 3:

Table S1. Polymorphisms and genotypes of 4 pigs in the region of the MYH7 gene.

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Additional file 4:

Figure S2. Graphical representation of the coiled coil prediction on the impact of the mutation. (A) wildtype protein (B) mutant protein. A dramatic drop in probability of the formation of a coiled coil structure is expected in the latter.

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Additional file 5:

Figure S3. Position of amino acid in the region of the MYH7 mutation. (A) Scheme of a generic heptad in a dimeric parallel coiled coil. Positions in the coil are strictly dictated by the chemical properties of the residues. Wide, continue red line stands for hydrophobic interaction, and dotted line for ionic ones. (B) Same structure in side view (C) Side view of amino acids in the 1431 – p.1454 positions in wildtype as predicted by MARCOIL (D) roles predicted by MARCOIL for mutant protein (see Additional file 6: Table S2). Is it expected that the specific pattern regarding the formation of bonds is disrupted in the specific zone. See [34].

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Additional file 6:

Table S2. Probability of formation of coiled coil structure and position assigned to each residue performed by MARCOIL for the wildtype and mutant MYH7. (PDF 98 kb)

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