Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease

Drögemüller, Cord; Drögemüller, Michaela; Leeb, Tosso; Mascarello, Francesco; Testoni, Stefania; Rossi, Marco; Gentile, Arcangelo; Damiani, Ernesto; Sacchetto, Roberta (2008). 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(6), pp. 474-477. Elsevier 10.1016/j.ygeno.2008.07.014

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

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

UniBE Contributor:

Drögemüller, Cord; Drögemüller, Michaela and Leeb, Tosso

Subjects:

500 Science > 570 Life sciences; biology
500 Science > 590 Animals (Zoology)
600 Technology > 610 Medicine & health
600 Technology > 630 Agriculture

ISSN:

0888-7543

Publisher:

Elsevier

Language:

English

Submitter:

Tosso Leeb

Date Deposited:

14 Aug 2015 14:27

Last Modified:

15 Aug 2015 05:40

Publisher DOI:

10.1016/j.ygeno.2008.07.014

PubMed ID:

18786632

BORIS DOI:

10.7892/boris.70773

URI:

https://boris.unibe.ch/id/eprint/70773

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