Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease
Publisher DOI
PubMed ID
18786632
Abstract
Congenital pseudomyotonia in Chianina cattle is a muscle function disorder very similar to that of Brody disease in humans. Mutations in the human ATP2A1 gene, encoding SERCA1, cause Brody myopathy. The analysis of the collected Chianina pedigree data suggested monogenic autosomal recessive inheritance and revealed that all 17 affected individuals traced back to a single founder. A deficiency of SERCA1 function in skeletal muscle of pseudomyotonia affected Chianina cattle was observed as SERCA1 activity in affected animals was decreased by about 70%. Linkage analysis showed that the mutation was located in the ATP2A1 gene region on BTA25 and subsequent mutation analysis of the ATP2A1 exons revealed a perfectly associated missense mutation in exon 6 (c.491G>A) leading to a p.Arg164His substitution. Arg164 represents a functionally important and strongly conserved residue of SERCA1. This study provides a suitable large animal model for human Brody disease.
Date Issued
2008-12
Publication Type
Article
Language(s)
en
Author(s)
Mascarello, Francesco | |
Testoni, Stefania | |
Rossi, Marco | |
Gentile, Arcangelo | |
Damiani, Ernesto | |
Sacchetto, Roberta |
Additional Credits
Journal
Genomics
Publisher
Elsevier
ISSN
0888-7543
Access(Rights)
restricted