OMIA 001464-9913 : Pseudomyotonia, congenital in Bos taurus
Interestingly, another mutation in this same gene causes a far more severe set of clinical signs: congenital muscular dystonia 1 (OMIA 001450-9913).
The situation has been complicated somewhat with the discovery by Grunberg et al. (2010) of a Dutch Improved Red and White cross-bred calf with clinical signs of PMT yet with the same mutation as seen in the Belgian Blue with congenital muscular dystonia 1 (OMIA 001450-9913). They raise the very real (and not unexpected) possibility that the same mutation can have different effects in different breeds. Dorotea et al. (2015) shed some light on this enigma.
Murgiano et al. (2012) identified the causal mutation in Romagnola cattle as two separate missense base substitutions in "exon 8 (c.[632 G>T; 857 G>T])" resulting in two amino-acid substitutions "(p.[(Gly211Val; Gly284Val)])" at highly conserved residues. Interestingly, only one of the four affected calves in this study was homozygous for the newly-identified double mutation; the other three affected calves were compound heterozygotes for the double mutation and the "exon 6 variant c.491 G>A(p. Arg146Gly)" reported by Drogemuller et al. (2008) in Chianina cattle.Breeds: Chianina, Red and White Dutch, Romagnola. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ATP2A1||ATPase, Ca++ transporting, cardiac muscle, fast twitch 1||Bos taurus||25||NC_037352.1 (25946618..25929251)||ATP2A1||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Romagnola||Pseudomyotonia, congenital||ATP2A1||missense||UMD3.1||25||g.26197204G>T||c.857G>T||p.G286V||2012||23046865||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)|
|Romagnola||Pseudomyotonia, congenital||ATP2A1||missense||UMD3.1||25||g.26197429G>T||c.632G>T||p.G211V||2012||23046865||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)|
|Chianina||Pseudomyotonia, congenital||ATP2A1||missense||UMD3.1||25||g.26198573G>A||c.491G > A||p.R164H||2008||18786632||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2015||Dorotea, T., Grünberg, W., Murgiano, L., Plattet, P., Drögemüller, C., Mascarello, F., Sacchetto, R. :|
|Fast-twitch skeletal muscle fiber adaptation to SERCA1 deficiency in a Dutch Improved Red and White calf pseudomyotonia case. Neuromuscul Disord 25:888-97, 2015. Pubmed reference: 26482047. DOI: 10.1016/j.nmd.2015.08.010.|
|2013||Murgiano, L., Testoni, S., Drögemüller, C., Bolcato, M., Gentile, A. :|
|Frequency of bovine congenital pseudomyotonia carriers in selected Italian Chianina sires. Vet J 195:238-40, 2013. Pubmed reference: 22627047. DOI: 10.1016/j.tvjl.2012.04.021.|
|2012||Murgiano, L., Sacchetto, R., Testoni, S., Dorotea, T., Mascarello, F., Liguori, R., Gentile, A., Drogemuller, C. :|
|Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations. BMC Vet Res 8:186, 2012. Pubmed reference: 23046865. DOI: 10.1186/1746-6148-8-186.|
|2010||Grünberg, W., Sacchetto, R., Wijnberg, I., Neijenhuis, K., Mascarello, F., Damiani, E., Drögemüller, C. :|
|Pseudomyotonia, a muscle function disorder associated with an inherited ATP2A1 (SERCA1) defect in a Dutch Improved Red and White cross-breed calf. Neuromuscul Disord 20:467-70, 2010. Pubmed reference: 20547455. DOI: 10.1016/j.nmd.2010.04.010.|
|2009||Sacchetto, R., Testoni, S., Gentile, A., Damiani, E., Rossi, M., Liguori, R., Drögemüller, C., Mascarello, F. :|
|A defective SERCA1 protein is responsible for congenital pseudomyotonia in Chianina cattle. Am J Pathol 174:565-73, 2009. Pubmed reference: 19116366. DOI: 10.2353/ajpath.2009.080659.|
|2008||Drögemüller, C., Drögemüller, M., Leeb, T., Mascarello, F., Testoni, S., Rossi, M., Gentile, A., Damiani, E., Sacchetto, R. :|
|Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease. Genomics 92:474-7, 2008. Pubmed reference: 18786632. DOI: 10.1016/j.ygeno.2008.07.014.|
|Testoni, S., Boni, P., Gentile, A. :|
|Congenital pseudomyotonia in Chianina cattle. Vet Rec 163:252, 2008. Pubmed reference: 18723868.|
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