Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations.

Murgiano, Leonardo; Sacchetto, Roberta; Testoni, Stefania; Dorotea, Tiziano; Mascarello, Francesco; Liguori, Rocco; Gentile, Arcangelo; Drögemüller, Cord (2012). Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations. BMC veterinary research, 8, p. 186. BioMed Central 10.1186/1746-6148-8-186

[img]
Preview
Text
Murgiano 2012.pdf - Published Version
Available under License Creative Commons: Attribution (CC-BY).

Download (1MB) | Preview

BACKGROUND Bovine congenital pseudomyotonia (PMT) is an impairment of muscle relaxation induced by exercise preventing animals from performing rapid movements. Forms of recessively inherited PMT have been described in different cattle breeds caused by two independent mutations in ATP2A1 encoding a skeletal-muscle Ca2+-ATPase (SERCA1). We observed symptoms of congenital PMT in four related Romagnola beef cattle from Italy and evaluated SERCA1 activity and scanned ATP2A1 for possible causative mutations. RESULTS We obtained four PMT affected Romagnola cattle and noted striking clinical similarities to the previously described PMT cases in other cattle breeds. The affected animals had a reduced SERCA1 activity in the sarcoplasmic reticulum. A single affected animal was homozygous for a novel complex variant in ATP2A1 exon 8 (c.[632 G>T; 857 G>T]). Three out of four cases were compound heterozygous for the newly identified exon 8 variant and the exon 6 variant c.491 G>A(p. Arg146Gly), which has previously been shown to cause PMT in Chianina cattle. Pedigree analysis showed that the exon 8 double mutation event dates back to at least 1978. Both nucleotide substitutions are predicted to alter the SERCA1 amino acid sequence (p.[(Gly211Val; Gly284Val)]), affect highly conserved residues, in particular the actuator domain of SERCA1. CONCLUSION Clinical, biochemical and DNA analyses confirmed the initial hypothesis. We provide functional and genetic evidence that one novel and one previously described ATP2A1 mutation lead to a reduced SERCA1 activity in skeletal muscles and pseudomyotonia in affected Romagnola cattle. Selection against these mutations can now be used to eliminate the mutant alleles from the Romagnola breed.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics

UniBE Contributor:

Murgiano, Leonardo and Drögemüller, Cord

Subjects:

500 Science > 590 Animals (Zoology)
600 Technology > 630 Agriculture
600 Technology > 610 Medicine & health

ISSN:

1746-6148

Publisher:

BioMed Central

Language:

English

Submitter:

Cord Drögemüller

Date Deposited:

17 Dec 2019 10:48

Last Modified:

22 Dec 2019 02:46

Publisher DOI:

10.1186/1746-6148-8-186

PubMed ID:

23046865

BORIS DOI:

10.7892/boris.136302

URI:

https://boris.unibe.ch/id/eprint/136302

Actions (login required)

Edit item Edit item
Provide Feedback