Short communication (Scientific journals)
Detection of copy number variants in the horse genome and examination of their association with recurrent laryngeal neuropathy
Dupuis, Marie-Capucine; Zhang, Zhiyan; Durkin, Keith et al.
2013In Animal Genetics
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Keywords :
CNV; genetics; horse; larynx; neuropathy
Abstract :
[en] We used the data from a recently performed genome-wide association study using the Illumina Equine SNP50 beadchip for the detection of copy number variants (CNVs) and examined their association with recurrent laryngeal neuropathy (RLN), an important equine upper airway disease compromising performance. A total of 2797 CNVs were detected for 477 horses, covering 229 kb and seven SNPs on average. Overlapping CNVs were merged to define 478 CNV regions (CNVRs). CNVRs, particularly deletions, were shown to be significantly depleted in genes. Fifty-two of the 67 common CNVRs (frequency ! 1%) were validated by association mapping, Mendelian inheritance, and/or Mendelian inconsistencies. None of the 67 common CNVRs were significantly associated with RLN when accounting for multiple testing. However, a duplication on chromosome 10 was detected in 10 cases (representing three breeds) and two unphenotyped parents but in none of the controls. The duplication was embedded in an 8-Mb haplotype shared across breeds.
Disciplines :
Genetics & genetic processes
Author, co-author :
Dupuis, Marie-Capucine;  Université de Liège - ULiège > Département des Productions Animales > Unité de Génomique Animale
Zhang, Zhiyan ;  Université de Liège - ULiège > Doct. sc. vété. (Bologne)
Durkin, Keith  ;  Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale
Charlier, Carole  ;  Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale
Lekeux, Pierre ;  Université de Liège - ULiège > Département de sciences fonctionnelles > Physiologie
Georges, Michel  ;  Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale
Language :
English
Title :
Detection of copy number variants in the horse genome and examination of their association with recurrent laryngeal neuropathy
Publication date :
2013
Journal title :
Animal Genetics
ISSN :
0268-9146
eISSN :
1365-2052
Publisher :
Blackwell Publishing, Oxford, United Kingdom
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 11 January 2013

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