Genome-wide SNP association–based localization of a dwarfism gene in Friesian dwarf horses

Authors

  • N. Orr,

    1. Section of Veterinary Clinical Studies, School of Agriculture, Food Science and Veterinary Medicine, University College Dublin, Dublin, Ireland
    2. Animal Genomics Laboratory, School of Agriculture, Food Science and Veterinary Medicine, University College Dublin, Dublin, Ireland
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    • Current address: The Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London, UK.

  • W. Back,

    1. Department of Equine Sciences, Faculty of Veterinary Medicine, Utrecht University, Utrecht, The Netherlands
    2. Department of Surgery and Anaesthesiology of the Domestic Animals, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium
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  • J. Gu,

    1. Animal Genomics Laboratory, School of Agriculture, Food Science and Veterinary Medicine, University College Dublin, Dublin, Ireland
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  • P. Leegwater,

    1. Department of Equine Sciences, Faculty of Veterinary Medicine, Utrecht University, Utrecht, The Netherlands
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  • P. Govindarajan,

    1. Section of Veterinary Clinical Studies, School of Agriculture, Food Science and Veterinary Medicine, University College Dublin, Dublin, Ireland
    2. Animal Genomics Laboratory, School of Agriculture, Food Science and Veterinary Medicine, University College Dublin, Dublin, Ireland
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  • J. Conroy,

    1. School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland
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  • B. Ducro,

    1. Animal Breeding and Genomics Centre, Wageningen University and Research Centre, Wageningen, The Netherlands
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  • J. A. M. Van Arendonk,

    1. Animal Breeding and Genomics Centre, Wageningen University and Research Centre, Wageningen, The Netherlands
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  • D. E. MacHugh,

    1. Animal Genomics Laboratory, School of Agriculture, Food Science and Veterinary Medicine, University College Dublin, Dublin, Ireland
    2. Conway Institute of Biomedical and Biomolecular Research, University College Dublin, Dublin, Ireland
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  • S. Ennis,

    1. School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland
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  • E. W. Hill,

    1. Animal Genomics Laboratory, School of Agriculture, Food Science and Veterinary Medicine, University College Dublin, Dublin, Ireland
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  • P. A. J. Brama

    1. Section of Veterinary Clinical Studies, School of Agriculture, Food Science and Veterinary Medicine, University College Dublin, Dublin, Ireland
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P. A. J. Brama, Section of Veterinary Clinical Studies, School of Agriculture, Food Science and Veterinary Medicine, University College Dublin, Dublin, Ireland.
E-mail: pieter.brama@ucd.ie

Summary

The recent completion of the horse genome and commercial availability of an equine SNP genotyping array has facilitated the mapping of disease genes. We report putative localization of the gene responsible for dwarfism, a trait in Friesian horses that is thought to have a recessive mode of inheritance, to a 2- MB region of chromosome 14 using just 10 affected animals and 10 controls. We successfully genotyped 34 429 SNPs that were tested for association with dwarfism using chi-square tests. The most significant SNP in our study, BIEC2-239376 (P2df = 4.54 × 10−5, Prec = 7.74 × 10−6), is located close to a gene implicated in human dwarfism. Fine-mapping and resequencing analyses did not aid in further localization of the causative variant, and replication of our findings in independent sample sets will be necessary to confirm these results.

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