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Animals : an open access journal from MDPI2023; 13(3); 539; doi: 10.3390/ani13030539

Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred Horses.

Abstract: Chromosomal abnormalities are largely associated with fertility impairments in the domestic horse. To date, over 600 cases of individuals carrying abnormal chromosome complements have been reported, making the domestic horse the species with the highest prevalence. However, studies analyzing the prevalence of chromosomal diseases in whole populations are scarce. We, therefore, employed a two-step molecular tool to screen and diagnose chromosomal abnormalities in a large population of 25,237 Pura Raza Español horses. Individuals were first screened using short tandem repeats parentage testing results and phenotypic evaluations. Those animals showing results suggesting chromosomal abnormalities were re-tested using a single nucleotide polymorphism (SNP)-based diagnostic methodology to accurately determine the chromosomal complements. Thirteen individuals showed a positive screening, all of which were diagnosed as chromosomally abnormal, including five 64,XY mares with sex development disorders (DSD) and four cases of blood chimerism (two male/female and two female/female cases). In addition, we detected one Turner and one Klinefelter syndrome and two individuals carrying complex karyotypes. The overall prevalence in the entire population was ~0.05%, with the prevalence of 64,XY DSD and blood chimerism ~0.02% and ~0.016%, respectively. However, the overall results should be taken with caution since the individuals carrying Turner syndrome (in full (63,X) or mosaic (mos 63,X/64,XX) forms) cannot be detected due to limitations in the methodology employed. Finally, the lack of agreement between populational studies performed using karyotyping or molecular methods is discussed. To our knowledge, this is the largest populational study performed evaluating the prevalence of the most common chromosomal abnormalities in the domestic horse.
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Publication Date: 2023-02-03 PubMed ID: 36766428PubMed Central: PMC9913619DOI: 10.3390/ani13030539Google 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.

This research conducted a large-scale study on Spanish purebred horses to determine the prevalence of chromosomal abnormalities, which can affect fertility in domestic horses.

Introduction

The research explores the prevalence of chromosomal abnormalities in Spanish purebred horses, known as Pura Raza Español. Notably, domestic horses have the highest level of documented cases for these abnormalities amongst all species, with over 600 on record.

Methodology

The study utilized a two-step molecular tool, and it began with an initial screening of a population of 25,237 horses. The tests administered in the first stage consisted of:

  • Parentage testing with short tandem repeats
  • Phenotypic evaluations

For horses that displayed potential chromosomal abnormalities, a further test was administered using single nucleotide polymorphism based diagnostics.

Findings

The research culminated by identifying chromosomal abnormalities in thirteen cases. A breakdown of the abnormalities is as follows:

  • Five cases of mares with sex development disorders (64,XY DSD),
  • Four cases of blood chimerism (two male/female, and two female/female),
  • One case each of Turner Syndrome and Klinefelter Syndrome, and
  • Two cases where individuals carried complex karyotypes.

From the overall population evaluated, approximately 0.05% were found to have chromosomal irregularities. The disorders 64,XY DSD and blood chimerism had a prevalence of approximately 0.02% and 0.016% respectively.

Limitations and Conclusions

The researchers acknowledge certain limitations, notably the impossibility of detecting Turner syndrome (both fully formed and mosaic cases) due to the nature of the methodology. They also discussed the lack of consensus between population studies conducted using karyotyping or molecular methods. Despite this, the study stands as the largest to date examining the prevalence of common chromosomal abnormalities in domestic horses.

Cite This Article

APA
Demyda-Peyrás S, Laseca N, Anaya G, Kij-Mitka B, Molina A, Karlau A, Valera M. (2023). Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred Horses. Animals (Basel), 13(3), 539. https://doi.org/10.3390/ani13030539

Publication

Animals : an open access journal from MDPI
ISSN: 2076-2615
NlmUniqueID: 101635614
Country: Switzerland
Language: English
Volume: 13
Issue: 3
PII: 539

Researcher Affiliations

Demyda-Peyrás, Sebastián
  • Departamento de Producción Animal, Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, La Plata 1900, Argentina.
  • Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET LA PLATA), La Plata 1900, Argentina.
Laseca, Nora
  • Departamento de Genética, Universidad de Córdoba, 14071 Córdoba, Spain.
Anaya, Gabriel
  • Departamento de Genética, Universidad de Córdoba, 14071 Córdoba, Spain.
Kij-Mitka, Barbara
  • Department of Animal Reproduction, Anatomy and Genomics, University of Agriculture in Krakow, Mickiewicza 24/28, 30-059 Krakow, Poland.
Molina, Antonio
  • Departamento de Genética, Universidad de Córdoba, 14071 Córdoba, Spain.
Karlau, Ayelén
  • Departamento de Producción Animal, Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, La Plata 1900, Argentina.
  • Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET LA PLATA), La Plata 1900, Argentina.
Valera, Mercedes
  • Departamento Agronomía, Escuela Técnica Superior de Ingeniería Agromómica, Universidad de Sevilla, Ctra Utrera Km 1, 41013 Sevilla, Spain.

Grant Funding

  • PICT 2021-00063 / Agencia Nacional de Promociu00f3n Cientu00edfica y Tecnolu00f3gica
  • 1380999-R / UCOFEDER
  • AGL2017-84217-P / Ministry of Economy, Industry and Competitiveness

Conflict of Interest Statement

The authors declare no conflict of interest.

References

This article includes 35 references
  1. Bouters R, Vandeplassche M, De Moor A. An intersex (male pseudohermaphrodite) horse with 64 XX-65 XXY mosaicism.. Equine Vet J 1972 Jul;4(3):150-3.
    doi: 10.1111/j.2042-3306.1972.tb03898.xpubmed: 4652209google scholar: lookup
  2. Power M.M.. Chromosomes of the horse.. Adv. Vet. Sci. Comp. Med. 1990;34:131–167.
  3. Bugno-Poniewierska M, Raudsepp T. Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings.. Animals (Basel) 2021 Mar 16;11(3).
    doi: 10.3390/ani11030831pmc: PMC8001954pubmed: 33809432google scholar: lookup
  4. Laseca N, Anaya G, Peña Z, Pirosanto Y, Molina A, Demyda Peyrás S. Impaired Reproductive Function in Equines: From Genetics to Genomics.. Animals (Basel) 2021 Feb 3;11(2).
    doi: 10.3390/ani11020393pmc: PMC7913728pubmed: 33546520google scholar: lookup
  5. Lear TL, McGee RB. Disorders of sexual development in the domestic horse, Equus caballus.. Sex Dev 2012;6(1-3):61-71.
    doi: 10.1159/000334048pubmed: 22095202google scholar: lookup
  6. Bugno M, Słota E, Kościelny M. Karyotype evaluation among young horse populations in Poland.. Schweiz Arch Tierheilkd 2007 May;149(5):227-32.
    doi: 10.1024/0036-7281.149.5.227pubmed: 17557614google scholar: lookup
  7. Kakoi H, Hirota K, Gawahara H, Kurosawa M, Kuwajima M. Genetic diagnosis of sex chromosome aberrations in horses based on parentage test by microsatellite DNA and analysis of X- and Y-linked markers.. Equine Vet J 2005 Mar;37(2):143-7.
    doi: 10.2746/0425164054223787pubmed: 15779627google scholar: lookup
  8. Anaya G, Fernández ME, Valera M, Molina A, Azcona F, Azor P, Solé M, Moreno-Millán M, Demyda-Peyrás S. Prevalence of twin foaling and blood chimaerism in purebred Spanish horses.. Vet J 2018 Apr;234:142-144.
    doi: 10.1016/j.tvjl.2018.02.011pubmed: 29680387google scholar: lookup
  9. Bowling AT, Stott ML, Bickel L. Silent blood chimaerism in a mare confirmed by DNA marker analysis of hair bulbs.. Anim Genet 1993 Aug;24(4):323-4.
    doi: 10.1111/j.1365-2052.1993.tb00322.xpubmed: 8239079google scholar: lookup
  10. Juras R., Raudsepp T., Das P.J., Conant E., Cothran E.G.. XX/XY Blood Lymphocyte Chimerism in Heterosexual Dizygotic Twins from an American Bashkir Curly Horse. Case Report.. J. Equine Vet. Sci. 2010;30:575–580.
    doi: 10.1016/j.jevs.2010.09.001google scholar: lookup
  11. Demyda-Peyrás S, Membrillo A, Bugno-Poniewierska M, Pawlina K, Anaya G, Moreno-Millán M. The use of molecular and cytogenetic methods as a valuable tool in the detection of chromosomal abnormalities in horses: a case of sex chromosome chimerism in a Spanish purebred colt.. Cytogenet Genome Res 2013;141(4):277-83.
    doi: 10.1159/000351225pubmed: 23735586google scholar: lookup
  12. Pirosanto Y, Laseca N, Valera M, Molina A, Moreno-Millán M, Bugno-Poniewierska M, Ross P, Azor P, Demyda-Peyrás S. Screening and detection of chromosomal copy number alterations in the domestic horse using SNP-array genotyping data.. Anim Genet 2021 Aug;52(4):431-439.
    doi: 10.1111/age.13077pubmed: 34013628google scholar: lookup
  13. Poyato-Bonilla J, Laseca N, Demyda-Peyrás S, Molina A, Valera M. 500 years of breeding in the Carthusian Strain of Pura Raza Español horse: An evolutional analysis using genealogical and genomic data.. J Anim Breed Genet 2022 Jan;139(1):84-99.
    doi: 10.1111/jbg.12641pubmed: 34363624google scholar: lookup
  14. Perdomo-González DI, Laseca N, Demyda-Peyrás S, Valera M, Cervantes I, Molina A. Fine-tuning genomic and pedigree inbreeding rates in equine population with a deep and reliable stud book: the case of the Pura Raza Española horse.. J Anim Sci Biotechnol 2022 Nov 7;13(1):127.
    doi: 10.1186/s40104-022-00781-5pmc: PMC9639299pubmed: 36336696google scholar: lookup
  15. Hasegaw T, Sato F, Ishida N, Fukushima Y, Mukoyama H. Sex determination by simultaneous amplification of equine SRY and amelogenin genes.. J Vet Med Sci 2000 Oct;62(10):1109-10.
    doi: 10.1292/jvms.62.1109pubmed: 11073085google scholar: lookup
  16. Anaya-Calvo G.. Chromosomal alterations in the equine species: Development of a diagnostic screening tool in the purebred Spanish horse using molecular markers associated with the sex chromosomes.. Ph.D. Thesis. University of Córdoba; Córdoba, Spain: 2014.
  17. Raudsepp T, Chowdhary BP. Chromosome Aberrations and Fertility Disorders in Domestic Animals.. Annu Rev Anim Biosci 2016;4:15-43.
    doi: 10.1146/annurev-animal-021815-111239pubmed: 26884101google scholar: lookup
  18. Anaya G, Moreno-Millán M, Bugno-Poniewierska M, Pawlina K, Membrillo A, Molina A, Demyda-Peyrás S. Sex reversal syndrome in the horse: four new cases of feminization in individuals carrying a 64,XY SRY negative chromosomal complement.. Anim Reprod Sci 2014 Dec 10;151(1-2):22-7.
    doi: 10.1016/j.anireprosci.2014.09.020pubmed: 25308063google scholar: lookup
  19. Demyda-Peyrás S, Anaya G, Bugno-Poniewierska M, Pawlina K, Membrillo A, Valera M, Moreno-Millán M. The use of a novel combination of diagnostic molecular and cytogenetic approaches in horses with sexual karyotype abnormalities: a rare case with an abnormal cellular chimerism.. Theriogenology 2014 May;81(8):1116-22.
    doi: 10.1016/j.theriogenology.2014.01.040pubmed: 24612694google scholar: lookup
  20. Szczerbal I, Nowacka-Woszuk J, Kopp-Kuhlman C, Mackowski M, Switonski M. Application of droplet digital PCR in diagnosing of X monosomy in mares.. Equine Vet J 2020 Jul;52(4):627-631.
    doi: 10.1111/evj.13214pubmed: 31793061google scholar: lookup
  21. Shah MS, Cinnioglu C, Maisenbacher M, Comstock I, Kort J, Lathi RB. Comparison of cytogenetics and molecular karyotyping for chromosome testing of miscarriage specimens.. Fertil Steril 2017 Apr;107(4):1028-1033.
    doi: 10.1016/j.fertnstert.2017.01.022pubmed: 28283267google scholar: lookup
  22. Ballif BC, Rorem EA, Sundin K, Lincicum M, Gaskin S, Coppinger J, Kashork CD, Shaffer LG, Bejjani BA. Detection of low-level mosaicism by array CGH in routine diagnostic specimens.. Am J Med Genet A 2006 Dec 15;140(24):2757-67.
    doi: 10.1002/ajmg.a.31539pubmed: 17103431google scholar: lookup
  23. Anaya G, Molina A, Valera M, Moreno-Millán M, Azor P, Peral-García P, Demyda-Peyrás S. Sex chromosomal abnormalities associated with equine infertility: validation of a simple molecular screening tool in the Purebred Spanish Horse.. Anim Genet 2017 Aug;48(4):412-419.
    doi: 10.1111/age.12543pubmed: 28224649google scholar: lookup
  24. Albarella S., De Lorenzi L., Catone G., Magi G.E., Petrucci L., Vullo C., D’Anza E., Parma P., Raudsepp T., Ciotola F.. Diagnosis of XX/XY Blood Cell Chimerism at a Low Percentage in Horses.. J. Equine Vet. Sci. 2018;69:129–135.
    doi: 10.1016/j.jevs.2018.06.016google scholar: lookup
  25. Hall GK, Mackie FL, Hamilton S, Evans A, McMullan DJ, Williams D, Allen S, Kilby MD. Chromosomal microarray analysis allows prenatal detection of low level mosaic autosomal aneuploidy.. Prenat Diagn 2014 May;34(5):505-7.
    doi: 10.1002/pd.4333pubmed: 24464918google scholar: lookup
  26. Pieńkowska-Schelling A, Kaul A, Schelling C. X chromosome aneuploidy and micronuclei in fertile mares.. Theriogenology 2020 Apr 15;147:34-38.
    doi: 10.1016/j.theriogenology.2020.02.020pubmed: 32086049google scholar: lookup
  27. Wieczorek M, Switoński M, Yang F. A low-level X chromosome mosaicism in mares, detected by chromosome painting.. J Appl Genet 2001;42(2):205-9.
    pubmed: 14564053
  28. Bowling AT, Millon L, Hughes JP. An update of chromosomal abnormalities in mares.. J Reprod Fertil Suppl 1987;35:149-55.
    pubmed: 3479571
  29. Villagómez DA, Parma P, Radi O, Di Meo G, Pinton A, Iannuzzi L, King WA. Classical and molecular cytogenetics of disorders of sex development in domestic animals.. Cytogenet Genome Res 2009;126(1-2):110-31.
    doi: 10.1159/000245911pubmed: 20016161google scholar: lookup
  30. Bondy CA. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group.. J Clin Endocrinol Metab 2007 Jan;92(1):10-25.
    doi: 10.1210/jc.2006-1374pubmed: 17047017google scholar: lookup
  31. Schaefer RJ, McCue ME. Equine Genotyping Arrays.. Vet Clin North Am Equine Pract 2020 Aug;36(2):183-193.
    doi: 10.1016/j.cveq.2020.03.001pubmed: 32534852google scholar: lookup
  32. MacLeod JN, Kalbfleisch TS. Genetics, Genomics, and Emergent Precision Medicine 12 Years After the Equine Reference Genome Was Published.. Vet Clin North Am Equine Pract 2020 Aug;36(2):173-181.
    doi: 10.1016/j.cveq.2020.04.002pubmed: 32654780google scholar: lookup
  33. McGivney BA, Han H, Corduff LR, Katz LM, Tozaki T, MacHugh DE, Hill EW. Genomic inbreeding trends, influential sire lines and selection in the global Thoroughbred horse population.. Sci Rep 2020 Jan 16;10(1):466.
    doi: 10.1038/s41598-019-57389-5pmc: PMC6965197pubmed: 31949252google scholar: lookup
  34. Villagómez DA, Lear TL, Chenier T, Lee S, McGee RB, Cahill J, Foster RA, Reyes E, St John E, King WA. Equine disorders of sexual development in 17 mares including XX, SRY-negative, XY, SRY-negative and XY, SRY-positive genotypes.. Sex Dev 2011;5(1):16-25.
    doi: 10.1159/000322811pubmed: 21196712google scholar: lookup
  35. Martinez MM, Costa M, Ratti C. Molecular screening of XY SRY-negative sex reversal cases in horses revealed anomalies in amelogenin testing.. J Vet Diagn Invest 2020 Nov;32(6):938-941.
    doi: 10.1177/1040638720952380pmc: PMC7649551pubmed: 32865132google scholar: lookup

Citations

This article has been cited 3 times.
  1. Switonski M, Szczerbal I, Nowacka-Woszuk J. From cytogenetics to cytogenomics: a new era in the diagnosis of chromosomal abnormalities in domestic animals. J Appl Genet 2025 Sep;66(3):661-673.
    doi: 10.1007/s13353-025-00943-xpubmed: 39869248google scholar: lookup
  2. Valera M, Karlau A, Anaya G, Bugno-Poniewierska M, Molina A, Encina A, Azor PJ, Demyda-Peyrás S. The Use of Genomic Screening for the Detection of Chromosomal Abnormalities in the Domestic Horse: Five New Cases of 65,XXY Syndrome in the Pura Raza Español Breed. Animals (Basel) 2024 Sep 3;14(17).
    doi: 10.3390/ani14172560pubmed: 39272345google scholar: lookup
  3. Cieslak J, Mackowski M, Skrzetuska W, Fidos-Tama E, Siwinska N, Szczerbal I. A case of non-mosaic X trisomy (65,XXX) in a Thoroughbred mare confirmed by cytogenetic and molecular analysis. J Appl Genet 2024 May;65(2):395-398.
    doi: 10.1007/s13353-024-00844-5pubmed: 38368284google scholar: lookup
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