Identification of congenital muscular dystonia 2 associated with an inherited GlyT2 defect in Belgian Blue cattle from the United Kingdom

J L Gill; V M James; E Carta; D Harris; M Topf; S F E Scholes; G Hateley; Robert J Harvey

doi:10.1111/j.1365-2052.2011.02255.x

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Identification of congenital muscular dystonia 2 associated with an inherited GlyT2 defect in Belgian Blue cattle from the United Kingdom

Journal article

Peer reviewed

Identification of congenital muscular dystonia 2 associated with an inherited GlyT2 defect in Belgian Blue cattle from the United Kingdom

J L Gill, V M James, E Carta, D Harris, M Topf, S F E Scholes, G Hateley and Robert J Harvey

Animal Genetics, Vol.43(3), pp.267-270

2012

DOI: https://doi.org/10.1111/j.1365-2052.2011.02255.x

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Abstract

Belgian Blue

CMD2

congenital muscular dystonia type 2

glycine transporter

GlyT2

Two newborn Belgian Blue calves from a farm in the United Kingdom exhibited lateral recumbency, low head carriage and transient muscle spasms following tactile or auditory stimulation. DNA sequence analysis indicated that both calves were homozygous for the recessive congenital muscular dystonia type 2 (CMD2) mutation (c.809T>C, p.Leu270Pro) in SLC6A5, encoding the neuronal glycine transporter GlyT2. Further testing of animals from the index farm and a sample of Belgian Blue sires revealed an unexpectedly high frequency of CMD2 carriers. This implies that linked quantitative trait loci may be influencing the prevalence of CMD2 in the estimated 55 000 Belgian Blue cattle in the United Kingdom. We have therefore developed new inexpensive tests for the CMD2 allele that can be used to confirm diagnosis, identify carriers and guide future breeding strategy, thus avoiding animal distress/premature death and minimizing the future economic impact of this disorder. © 2011 The Authors, Animal Genetics © 2011 Stichting International Foundation for Animal Genetics.

Details

Title: Identification of congenital muscular dystonia 2 associated with an inherited GlyT2 defect in Belgian Blue cattle from the United Kingdom
Authors: J L Gill (Author) - University College London, United Kingdom
V M James (Author) - University College London, United Kingdom
E Carta (Author) - University College London, United Kingdom
D Harris (Author) - Clent Life Science, United Kingdom
M Topf (Author) - Institute of Structural and Molecular Biology, United Kingdom
S F E Scholes (Author) - VLA Lasswade, United Kingdom
G Hateley (Author) - VLA Weybridge, United Kingdom
Robert J Harvey (Author) - University College London, United Kingdom
Publication details: Animal Genetics, Vol.43(3), pp.267-270
Publisher: Wiley-Blackwell Publishing Ltd.
Date published: 2012
DOI: 10.1111/j.1365-2052.2011.02255.x
ISSN: 0268-9146
Organisation Unit: School of Health; University of the Sunshine Coast, Queensland; School of Health and Sport Sciences - Legacy; Centre for Bioinnovation; School of Health and Behavioural Sciences - Legacy
Language: English
Record Identifier: 99450931902621
Output Type: Journal article

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