Please use this identifier to cite or link to this item: https://hdl.handle.net/1959.11/3419
Title: The CHRNE 470del20 mutation causing congenital myasthenic syndrome in South African Brahman cattle: Prevalence, origin, and association with performance traits
Contributor(s): Thompson, P N (author); Van Der Werf, Julius Herman  (author)orcid ; Heesterbeek, J A P (author); van Arendonk, Johannus Antonius (author)
Publication Date: 2007
DOI: 10.2527/jas.2006-379
Handle Link: https://hdl.handle.net/1959.11/3419
Abstract: Genotyping of the South African, registered, Brahman cattle population for the 470del20 mutation in the CHRNE gene causing congenital myasthenic syndrome (CMS) was carried out in 1,453 animals. Overall prevalence of carriers was 0.97% (0.50 to 1.68%, 95% confidence interval). Carrier prevalence among breeding bulls in 2004 was 1.22% (0.65 to 2.15%, 95% confidence interval), and had not changed significantly since 2000. Using segregation analysis, CMS genotype probabilities were calculated for all 612,219 animals in the pedigree, leading to the identification of 2 founder animals as the most likely original carriers. Pedigree analysis revealed no ancestors common to all known carriers, but rather that the mutation had been introduced at least twice into the South African Brahman population, probably via animals imported from the United States. The effects of CMS genotype probability on adjusted birth, 200-d, 400-d, and 600-d BW, as well as on EBV for birth, 200-d, 400-d, and 600-d BW, and milk, were estimated, accounting for effects of sire. Heterozygosity for the CHRNE 470del20 mutation was associated with a 13.3-kg increase in adjusted 600-d BW(P = 0.03). Positive effects of CMS carrier status on all BW EBV were found, but no effect was found on milk EBV. We conclude that CMS carriers have a BW advantage at 600 d and possibly also at birth, 200 d, and 400 d. This may confer a selective advantage and tend to increase the frequency of the mutation.
Publication Type: Journal Article
Source of Publication: Journal of Animal Science, v.85, p. 604-609
Publisher: American Society of Animal Science
Place of Publication: United States of America
ISSN: 1525-3163
0021-8812
Fields of Research (FoR) 2008: 060412 Quantitative Genetics (incl Disease and Trait Mapping Genetics)
Socio-Economic Objective (SEO) 2008: 830301 Beef Cattle
Peer Reviewed: Yes
HERDC Category Description: C1 Refereed Article in a Scholarly Journal
Appears in Collections:Journal Article
School of Environmental and Rural Science

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