Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/97184
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Type: Journal article
Title: Copy number variation in the horse genome
Author: Ghosh, S.
Qu, Z.
Das, P.
Fang, E.
Juras, R.
Cothran, E.
McDonell, S.
Kenney, D.
Lear, T.
Adelson, D.
Chowdhary, B.
Raudsepp, T.
Citation: PLoS Genetics, 2014; 10(10):e1004712-1-e1004712-19
Publisher: Public Library of Science
Issue Date: 2014
ISSN: 1553-7390
1553-7404
Statement of
Responsibility: 
Sharmila Ghosh, Zhipeng Qu, Pranab J. Das, Erica Fang, Rytis Juras, E. Gus Cothran, Sue McDonell, Daniel G. Kenney, Teri L. Lear, David L. Adelson, Bhanu P. Chowdhary, Terje Raudsepp
Abstract: We constructed a 400K WG tiling oligoarray for the horse and applied it for the discovery of copy number variations (CNVs) in 38 normal horses of 16 diverse breeds, and the Przewalski horse. Probes on the array represented 18,763 autosomal and X-linked genes, and intergenic, sub-telomeric and chrY sequences. We identified 258 CNV regions (CNVRs) across all autosomes, chrX and chrUn, but not in chrY. CNVs comprised 1.3% of the horse genome with chr12 being most enriched. American Miniature horses had the highest and American Quarter Horses the lowest number of CNVs in relation to Thoroughbred reference. The Przewalski horse was similar to native ponies and draft breeds. The majority of CNVRs involved genes, while 20% were located in intergenic regions. Similar to previous studies in horses and other mammals, molecular functions of CNV-associated genes were predominantly in sensory perception, immunity and reproduction. The findings were integrated with previous studies to generate a composite genome-wide dataset of 1476 CNVRs. Of these, 301 CNVRs were shared between studies, while 1174 were novel and require further validation. Integrated data revealed that to date, 41 out of over 400 breeds of the domestic horse have been analyzed for CNVs, of which 11 new breeds were added in this study. Finally, the composite CNV dataset was applied in a pilot study for the discovery of CNVs in 6 horses with XY disorders of sexual development. A homozygous deletion involving AKR1C gene cluster in chr29 in two affected horses was considered possibly causative because of the known role of AKR1C genes in testicular androgen synthesis and sexual development. While the findings improve and integrate the knowledge of CNVs in horses, they also show that for effective discovery of variants of biomedical importance, more breeds and individuals need to be analyzed using comparable methodological approaches.
Keywords: Animals; Horses; Humans; 20-Hydroxysteroid Dehydrogenases; Breeding; Base Sequence; Genome; Comparative Genomic Hybridization; DNA Copy Number Variations
Rights: © 2014 Ghosh et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
RMID: 0030015656
DOI: 10.1371/journal.pgen.1004712
Appears in Collections:Genetics publications

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