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Mammalian genome : official journal of the International Mammalian Genome Society2013; 24(5-6); 252-256; doi: 10.1007/s00335-013-9450-6

Detection of two equine trisomies using SNP-CGH.

Abstract: Chromosomal aberrations in the horse are known to cause congenital abnormalities, embryonic loss, and infertility. While diagnosed mainly by karyotyping and FISH in the horse, the use of SNP array comparative genome hybridization (SNP-CGH) is becoming increasingly common in human diagnostics. Normalized probe intensities and allelic ratios are used to detect changes in copy number genome-wide. Two horses with suspected chromosomal abnormalities and six horses with FISH-confirmed aberrant karyotypes were chosen for genotyping on the Equine SNP50 array. Karyotyping of the first horse indicated mosaicism for an additional small, acrocentric chromosome, although the identity of the chromosome was unclear. The second case displayed a similar phenotype to human disease caused by a gene deletion and so was chosen for SNP-CGH due to the ability to detect changes at higher resolutions than those achieved with conventional karyotyping. The results of SNP-CGH analysis for the six horses with known chromosomal aberrations agreed completely with previous karyotype and FISH analysis. The first undiagnosed case showed a pattern of altered allelic ratios without a noticeable shift in overall intensity for chromosome 27, consistent with a mosaic trisomy. The second case displayed a more drastic change in both values for chromosome 30, consistent with a complete trisomy. These results indicate that SNP-CGH is a viable method for detection of chromosomal aneuploidies in the horse.
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Publication Date: 2013-03-21 PubMed ID: 23515943DOI: 10.1007/s00335-013-9450-6Google Scholar: Lookup
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Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

The research article discusses how SNP array comparative genome hybridization (SNP-CGH), a method common in human diagnostics, is used for detecting chromosomal aberrations in horses that result to congenital abnormalities, embryonic loss, and infertility. The study used SNP-CGH to diagnose two horses with suspected chromosomal abnormalities, validating previous karyotype and FISH analysis results and establishing SNP-CGH as a viable method for detecting chromosomal anomalies in horses.

Chromosomal Aberrations in Horses

  • Chromosomal aberrations in horses can lead to different negative health outcomes such as congenital abnormalities, embryonic loss, and infertility.
  • These conditions are typically diagnosed through techniques such as karyotyping and Fluorescence In Situ Hybridization (FISH).
  • Both diagnostic methods were traditionally used, but the research explores the use of SNP array comparative genome hybridization (SNP-CGH), a method increasingly popular in human diagnostics.

SNP Array Comparative Genome Hybridization (SNP-CGH)

  • SNP-CGH is a technique that compares the genome of two individuals to identify differences or changes between them.
  • This method uses normalized probe intensities and allelic ratios to detect changes in genome copy number on a wider scale.
  • The SNP-CGH method can detect changes at higher resolutions than conventional karyotyping, hence offering potential for more detailed and accurate analysis of chromosomal conditions in horses.

Methodology and Findings

  • The researchers chose two horses with suspected chromosomal abnormalities and six horses with FISH-confirmed aberrant karyotypes for genotyping on the Equine SNP50 array.
  • The first horse showed signs of mosaicism for an additional small, acrocentric chromosome, but its identity was unclear.
  • The second horse displayed similar phenotype to a human disease caused by a gene deletion.
  • The SNP-CGH results for the six horses with known chromosomal aberrations entirely agreed with the previous karyotype and FISH analysis.
  • The first undiagnosed case showed a pattern of altered allelic ratios without a noticeable overall intensity shift for chromosome 27, consistent with a mosaic trisomy.
  • The second case showed a drastic change in both values for chromosome 30, indicating a complete trisomy.
  • These findings suggest that SNP-CGH can effectively detect chromosomal aneuploidies in horses.

Cite This Article

APA
Holl HM, Lear TL, Nolen-Walston RD, Slack J, Brooks SA. (2013). Detection of two equine trisomies using SNP-CGH. Mamm Genome, 24(5-6), 252-256. https://doi.org/10.1007/s00335-013-9450-6

Publication

Mammalian genome : official journal of the International Mammalian Genome Society
ISSN: 1432-1777
NlmUniqueID: 9100916
Country: United States
Language: English
Volume: 24
Issue: 5-6
Pages: 252-256

Researcher Affiliations

Holl, Heather M
  • Department of Animal Science, Cornell University, Ithaca, NY 14853, USA. hmh64@cornell.edu
Lear, Teri L
    Nolen-Walston, Rose D
      Slack, Joann
        Brooks, Samantha A

          MeSH Terms

          • Animals
          • Chromosome Aberrations
          • Chromosome Disorders / diagnosis
          • Chromosome Disorders / genetics
          • Chromosome Disorders / veterinary
          • Chromosomes, Mammalian / genetics
          • Comparative Genomic Hybridization
          • Female
          • Horse Diseases / diagnosis
          • Horse Diseases / genetics
          • Horses
          • Male
          • Polymorphism, Single Nucleotide
          • Trisomy

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          Citations

          This article has been cited 5 times.
          1. Bugno-Poniewierska M, Raudsepp T. Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings. Animals (Basel) 2021 Mar 16;11(3).
            doi: 10.3390/ani11030831pubmed: 33809432google scholar: lookup
          2. Shilton CA, Kahler A, Davis BW, Crabtree JR, Crowhurst J, McGladdery AJ, Wathes DC, Raudsepp T, de Mestre AM. Whole genome analysis reveals aneuploidies in early pregnancy loss in the horse. Sci Rep 2020 Aug 7;10(1):13314.
            doi: 10.1038/s41598-020-69967-zpubmed: 32769994google scholar: lookup
          3. Schrimpf R, Gottschalk M, Metzger J, Martinsson G, Sieme H, Distl O. Screening of whole genome sequences identified high-impact variants for stallion fertility. BMC Genomics 2016 Apr 14;17:288.
            doi: 10.1186/s12864-016-2608-3pubmed: 27079378google scholar: lookup
          4. Ryan CA, Berry DP, Bugno-Poniewierska M, Burke MK, Raudsepp T, Egan S, Doyle JL. Two Cases of Chromosome 27 Trisomy in Horses Detected Using Illumina BeadChip Genotyping. Animals (Basel) 2025 Jun 22;15(13).
            doi: 10.3390/ani15131842pubmed: 40646741google scholar: lookup
          5. Lawson JM, Salem SE, Miller D, Kahler A, van den Boer WJ, Shilton CA, Sever T, Mouncey RR, Ward J, Hampshire DJ, Foote AK, Bryan JS, Juras R, Pynn OD, Davis BW, Bellone RR, Raudsepp T, de Mestre AM. Naturally occurring horse model of miscarriage reveals temporal relationship between chromosomal aberration type and point of lethality. Proc Natl Acad Sci U S A 2024 Aug 13;121(33):e2405636121.
            doi: 10.1073/pnas.2405636121pubmed: 39102548google scholar: lookup
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