Detection of copy number variants in the horse genome and examination of their association with recurrent laryngeal neuropathy

Animal Genetics
Marie-Capucine DupuisMichel Georges

Abstract

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.

References

Jan 19, 2006·Nature Reviews. Genetics·Lars FeukStephen W Scherer
Nov 24, 2006·Nature·Richard RedonMatthew E Hurles
Oct 9, 2009·Nature·Donald F ConradMatthew E Hurles
Jun 24, 2011·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Marie-Capucine DupuisMichel Georges

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Citations

Apr 2, 2014·BMC Genomics·Qian ZhaoZe Zhang
Feb 26, 2014·Journal of Applied Genetics·Artur GurgulMonika Bugno-Poniewierska
Sep 5, 2015·Journal of Veterinary Internal Medicine·C M McQueenN D Cohen
Oct 24, 2014·PLoS Genetics·Sharmila GhoshTerje Raudsepp
May 12, 2012·The Journal of Molecular Diagnostics : JMD·Myungsok OhSungwhan An
Apr 30, 2014·Equine Veterinary Journal·V GerberE Marti
Apr 25, 2018·Journal of Veterinary Internal Medicine·Alexandra C E Draper, Richard J Piercy
Apr 20, 2018·Scientific Reports·Evelyn T ToddNatasha A Hamilton
Jan 1, 2015·Microarrays·Logan C WalkerJohn F Pearson
May 19, 2021·BMC Genomics·Anna Carolina FernandesLuiz Lehmann Coutinho

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