Abstract
Microarray analysis is an efficient approach for screening and identifying cytogenetic imbalances in humans. SNP arrays, in particular, are a powerful way to identify copy-number gains and losses representing aneuploidy and aneusomy, but moreover, allow for the direct assessment of individual genotypes in known disease loci. Using these approaches, trisomies, monosomies, and mosaicism of whole chromosomes have been identified in human microarray studies. For canines, this approach is not widely used in clinical laboratory diagnostic practice. In our laboratory, we have implemented the use of a proprietary SNP array that represents approximately 650,000 loci across the domestic dog genome. During the validation of this microarray prior to clinical use, we identified three cases of aneuploidy after screening 2053 dogs of various breeds including monosomy X, trisomy X, and an apparent mosaic trisomy of canine chromosome 38 (CFA38). This study represents the first use of microarrays for copy-number evaluation to identify cytogenetic anomalies in canines. As microarray analysis becomes more routine in canine genetic testing, more cases of chromosome aneuploidy are likely to be uncovered.
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Acknowledgements
The authors express their appreciation to all of the dogs and their owners who participated in this study. Special thanks to Corinne Seganos, Paw Print Genetics, Genetics Veterinary Sciences, Inc., for obtaining the samples from the mosaic trisomy 38 dog and his puppies.
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Funding for this study was provided by Genetic Veterinary Sciences, Inc.
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LGS, BH, AZ, and BCB contributed to the study conceptualization and design. Any additional sample recruitment was arranged by LGS. Microarray design was performed by AZ and reviewed by LGS and BCB. Microarray testing and results analysis was performed by BH. BH and LGS produced the figures. LGS wrote the first draft of the manuscript. MS provided critical review of the manuscript and additional literature review. All authors commented on and approved the final manuscript.
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LGS is the owner of Genetic Veterinary Sciences, Inc., DBA Paw Print Genetics which provides genetic testing on a fee-for-service basis. The remaining authors have no conflicts of interest to declare.
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All canine samples included in this study were obtained through consent of the individual owners or were obtained from otherwise discarded DNA samples after clinical testing at Paw Print Genetics.
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Shaffer, L.G., Hopp, B., Switonski, M. et al. Identification of aneuploidy in dogs screened by a SNP microarray. Hum Genet 140, 1619–1624 (2021). https://doi.org/10.1007/s00439-021-02318-8
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DOI: https://doi.org/10.1007/s00439-021-02318-8