FREE SHIPPING over $40
OVER 9000 FIVE-STAR REVIEWS
5% OFF ALL SUBSCRIPTIONS
100% HAPPINESS GUARANTEE
Analyze Diet
0
Home / Equine Research Bank / Equine Vet J / Molecular cytogenetic screening of sex chromosome abnormalit...
Equine veterinary journal2024; doi: 10.1111/evj.14097

Molecular cytogenetic screening of sex chromosome abnormalities in young horse populations.

Abstract: Chromosomal abnormalities occur in the equine population at a rate of approximately 2%. The use of molecular cytogenetic techniques allows a more accurate identification of chromosomal abnormalities, especially those with a low rate of abnormal metaphases, demonstrating that the actual incidence in equine populations is higher. Objective: Estimation of the number of carriers of karyotypic abnormalities in a sample from a population of young horses of various breeds, using molecular cytogenetic techniques. Methods: Cross-sectional. Methods: Venous blood samples were collected from 500 young horses representing 5 breeds (Purebred Arabian, Hucul, Polish primitive horse [Konik], Małopolska, Coldblood, Silesian). Chromosomes and DNA were obtained from blood lymphocytes and evaluated by fluorescence in situ hybridisation (FISH) and PCR, using probes and markers for the sex chromosomes and select autosomes. Results: Nineteen horses, 18 mares and 1 stallion, were diagnosed with different chromosomal abnormalities: 17 cases of mosaic forms of sex chromosome aneuploidies with a very low incidence (0.6%-4.7%), one case of a SRY-negative 64,XY sex reversal mare, and one mare with X-autosome translocation. The percentage of sex chromosomal aberrations was established as 3.8% in the whole population, 6.08% in females and 0.49% in males. Conclusions: Limited sample size, confined to horses from Poland. Conclusions: The rate of sex chromosomal abnormalities we identified was almost double that reported in previous population studies that used classical chromosome staining techniques. FISH allowed the detection of aneuploid cell lines which had a very low incidence. The FISH technique is a faster and more precise method for karyotype examination; however, it is usually focused on only one or two chromosomes while banding karyotyping includes the entire chromosome set.
© 2024 EVJ Ltd.
Get Full Text
Publication Date: 2024-05-24 PubMed ID: 38785417DOI: 10.1111/evj.14097Google Scholar: Lookup
The Equine Research Bank provides access to a large database of publicly available scientific literature. Inclusion in the Research Bank does not imply endorsement of study methods or findings by Mad Barn.
LinkedInCopy
  • Journal Article

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 focused on investigating chromosomal abnormalities, specifically sex chromosome abnormalities, in various young horse breeds using molecular cytogenetic techniques. Results from the study suggest a higher incidence of these abnormalities than previously reported.

Research Objective

  • The aim of this research was to estimate the number of carriers of chromosomal abnormalities within a young horse population sample from various breeds. This was achieved through the use of molecular cytogenetic techniques which provide more detailed and accurate identification of chromosomal abnormalities.

Methods

  • A cross-sectional study was conducted using venous blood samples collected from 500 young horses across 5 different breeds in Poland.
  • The horse breeds included Purebred Arabian, Hucul, Polish primitive horse (Konik), Małopolska, Coldblood, and Silesian.
  • The chromosomes and DNA obtained from blood lymphocytes were evaluated using two main techniques: fluorescence in situ hybridization (FISH) and Polymerase Chain Reaction (PCR).
  • These techniques utilised probes and markers for sex chromosomes and certain autosomes.

Results

  • A total of 19 horses (18 mares and one stallion) were diagnosed with different chromosomal abnormalities, which included mosaic forms of sex chromosome aneuploidies with a very low incidence, a SRY-negative 64,XY sex reversal in one mare, and X-autosome translocation in another mare.
  • The overall percentage of sex chromosomal aberrations within the entire population was noted to be 3.8%, with higher numbers in females (6.08%) and relatively lower in males (0.49%).

Conclusions

  • Though the research was limited by the sample size and the restrictions to horses from only Poland, it still showed that the rate of sex chromosomal abnormalities found was almost double what was reported in previous studies using traditional chromosome staining techniques.
  • FISH was shown to be a faster and more accurate method for examining karyotypes, but it is typically only focused on one or two chromosomes, while banding karyotyping encompasses the entire chromosome set.

Cite This Article

APA
Bugno-Poniewierska M, Jankowska M, Raudsepp T, Kowalska K, Pawlina-Tyszko K, Szmatola T. (2024). Molecular cytogenetic screening of sex chromosome abnormalities in young horse populations. Equine Vet J. https://doi.org/10.1111/evj.14097

Publication

Equine veterinary journal
ISSN: 2042-3306
NlmUniqueID: 0173320
Country: United States
Language: English

Researcher Affiliations

Bugno-Poniewierska, Monika
  • Department of Animal Reproduction, Anatomy and Genomics, University of Agriculture in Krakow, Krakow, Poland.
Jankowska, Magdalena
  • Department of Animal Molecular Biology, National Research Institute of Animal Production, Balice, Poland.
Raudsepp, Terje
  • Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, Texas, USA.
Kowalska, Katarzyna
  • Department of Animal Molecular Biology, National Research Institute of Animal Production, Balice, Poland.
Pawlina-Tyszko, Klaudia
  • Department of Animal Molecular Biology, National Research Institute of Animal Production, Balice, Poland.
Szmatola, Tomasz
  • Department of Animal Molecular Biology, National Research Institute of Animal Production, Balice, Poland.
  • Centre of Experimental and Innovative Medicine, University of Agriculture in Krakow, Krakow, Poland.

Grant Funding

  • BIOSTRATEG2/297267/14/NCBR/2016 / National Research and Development Center (Poland)

References

This article includes 52 references
  1. Bosh KA, Powell D, Shelton B, Zent W. Reproductive performance measures among Thoroughbred mares in central Kentucky, during the 2004 mating season.. Equine Vet J 2009;41(9):883–888.
    doi: 10.2746/042516409x456068google scholar: lookup
  2. McFeely RA. A review of cytogenetics in equine reproduction.. J Reprod Fertil Suppl 1975;23:371–374.
  3. Halnan CR. Sex chromosome mosaicism and infertility in mares.. Vet Rec 1985;116(20):542–543.
  4. Long SE. Chromosome anomalies and infertility in the mare.. Equine Vet J 1988;20(2):89–93.
    doi: 10.1111/j.2042-3306.1988.tb01466.xgoogle scholar: lookup
  5. Power MM. Chromosomes of the horse.. Adv Vet Sci Comp Med 1990;34:131–167.
    doi: 10.1016/b978-0-12-039234-6.50010-0google scholar: lookup
  6. Bugno M, Słota E, Kościelny M. Karyotype evaluation among young horse populations in Poland.. Schweiz Arch Tierheilkd 2007;149(5):227–232.
    doi: 10.1024/0036-7281.149.5.227google scholar: lookup
  7. Lear TL, Bailey E. Equine clinical cytogenetics: the past and future.. Cytogenet Genome Res 2008;120(1–2):42–49.
    doi: 10.1159/000118739google scholar: lookup
  8. Lear TL, McGee RB. Disorders of sexual development in the domestic horse, Equus caballus.. Sex Dev 2012;6(1–3):61–71.
    doi: 10.1159/000334048google scholar: lookup
  9. Bugno‐Poniewierska M, Raudsepp T. Horse clinical cytogenetics: recurrent themes and novel findings.. Anim 2021;11(3):831.
    doi: 10.3390/ani11030831google scholar: lookup
  10. Gamo S, Tozaki T, Kakoi H, Hirota KI, Nakamura K, Nishii N. X monosomy in the endangered Kiso horse breed detected by a parentage test using sex chromosome linked genes and microsatellites.. J Vet Med Sci 2019;81(1):91–94.
    doi: 10.1292/jvms.18-0253google scholar: lookup
  11. Szczerbal I, Nowacka‐Woszuk J, Kopp‐Kuhlman C, Mackowski M, Świtoński M. Application of droplet digital PCR in diagnosing of X monosomy in mares.. Equine Vet J 2020;52(4):627–631.
    doi: 10.1111/evj.13214google scholar: lookup
  12. Bowling AT, Millon L, Hughes JP. An update of chromosomal abnormalities in mares.. J Reprod Fertil Suppl 1987;5:149–155.
  13. Bugno M, Slota E, Zabek T. Two cases of subfertile mares with 64, XX/63, X mosaic karyotype.. Ann Anim Sci 2001;1(2):7–11.
  14. Wieczorek M, Świtoński M, Yang F. A low–level X chromosome mosaicism in mares, detected by chromosome painting.. J Appl Genet 2001;42(2):205–209.
  15. Kjöllerström HJ, Collares‐Pereira MJ, Oom MM. First evidence of sex chromosome mosaicism in the endangered Sorraia Horse breed.. Livest Sci 2011;136(2–3):273–276.
    doi: 10.1016/j.livsci.2010.08.005google scholar: lookup
  16. Kent MG, Shoffner RN, Buoen L, Weber AF. XY sex‐reversal syndrome in the domestic horse.. Cytogenet Genome Res 1986;42(1–2):8–18.
    doi: 10.1159/000132243google scholar: lookup
  17. Sato F, Hirota K, Tozaki T, Ito K, Dhakal P, Taya K. A case of ambiguous external genitalia in a Thoroughbred male horse with 63, XO/64, XY Mosaic Karyotype.. J Vet Med Sci 2012;74(10):1327–1331.
    doi: 10.1292/jvms.11-0473google scholar: lookup
  18. Paget S, Ducos A, Mignotte F, Raymond I, Pinton A, Séguéla A. 63,XO/65,XYY mosaicism in a case of equine male pseudohermaphroditism.. Vet Rec 2001;148(1):24–25.
    doi: 10.1136/vr.148.1.24google scholar: lookup
  19. Neuhauser S, Handler J, Schelling C, Pieńkowska‐Schelling A. Disorder of sexual development in a Mare with an unusual tentative mosaic karyotype: 63, X/64, Xdel (Y).. Sex Dev 2018;12(5):232–238.
    doi: 10.1159/000490861google scholar: lookup
  20. Mushtag A, Memon BV, Buoen LC. Sterility associated with 64,XX/64,XY, 63,X0 mosaic karyotype in a Belgian mare.. Equine Pract 1994;16:24–26.
  21. Klunder LR, McFeely RA, Willard JP. Six separate sex chromosome anomalies in an Arabian mare.. Equine Vet J 1990;22(3):218–220.
  22. Bugno M, Ząbek T, Golonka P, Pieńkowska‐Schelling A, Schelling C, Słota E. A case of an intersex horse with 63, X/64, XX/65, XX, del (Y)(q?) karyotype.. Cytogenet Genome Res 2008;120(1–2):123–126.
    doi: 10.1159/000118750google scholar: lookup
  23. Neuhauser S, Handler J, Schelling C, Pieńkowska‐Schelling A. Fertility and 63, X Mosaicism in a Haflinger sibship.. J Equine Vet 2019;78:127–133.
    doi: 10.1016/j.jevs.2019.05.008google scholar: lookup
  24. Abe S, Miyake YI, Kageyama SI, Watanabe G, Taya K, Kawakura K. Deletion of the Sry region on the Y chromosome detected in a case of equine gonadal hypoplasia (XY female) with abnormal hormonal profiles.. Equine Vet J 1999;31(4):236–238.
    doi: 10.1111/j.2042-3306.1999.tb03813.xgoogle scholar: lookup
  25. Bugno M, Klukowska J, Słota E, Tischner M, Świtoński M. A sporadic case of the sex‐reversed mare (64, XY; SRY‐negative): molecular and cytogenetic studies of the Y chromosome.. Theriogenology 2003;59(7):1597–1603.
    doi: 10.1016/s0093-691x(02)01197-4google scholar: lookup
  26. Anaya G, Moreno‐Millán M, Bugno‐Poniewierska M, Pawlina K, Membrillo A, Molina A. 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;151(1–2):22–27.
    doi: 10.1016/j.anireprosci.2014.09.020google scholar: lookup
  27. Long SE. Tandem 1; 30 translocation: a new structural abnormality in the horse (Equus caballus).. Cytogenet Genome Res 1996;72(2–3):162–163.
    doi: 10.1159/000134176google scholar: lookup
  28. Power MM. The first description of a balanced reciprocal translocation [t (1q; 3q)] and its clinical effects in a mare.. Equine Vet J 1991;23(2):146–149.
  29. Lear TL, Layton G. Use of Zoo‐FISH to characterise a reciprocal translocation in a Thoroughbred mare: t (1;16)(q16;q21.3).. Equine Vet J 2002;34(2):207–209.
    doi: 10.2746/042516402776767295google scholar: lookup
  30. Lear TL, Lundquist J, Zent WW, Fishback WD, Clark A. Three autosomal chromosome translocations associated with repeated early embryonic loss (REEL) in the domestic horse (Equus caballus).. Cytogenet Genome Res 2008;120(1–2):117–122.
    doi: 10.1159/000118749google scholar: lookup
  31. Ball BA. Embryonic loss in mares. Incidence, possible causes, and diagnostic considerations.. Vet Clin North Am Equine Pract 1988;4:263–290.
    doi: 10.1016/s0749-0739(17)30641-7google scholar: lookup
  32. Lear TL, Raudsepp T, Lundquist JM, Brown SE. Repeated early embryonic loss in a thoroughbred mare with a chromosomal translocation [64, XX, t (2; 13)].. J Equine Vet 2014;34(6):805–809.
    doi: 10.1016/j.jevs.2014.01.007google scholar: lookup
  33. Mendoza MN, Schalnus SA, Thomson B, Bellone RR, Juras R, Raudsepp T. Novel complex unbalanced dicentric X‐autosome rearrangement in a Thoroughbred Mare with a mild effect on the phenotype.. Cytogenet Genome Res 2020;160(10):597–609.
    doi: 10.1159/000511236google scholar: lookup
  34. Ghosh S, Das PJ, Avila F, Thwaits BK, Chowdhary BP, Raudsepp T. A non‐reciprocal autosomal translocation 64, XX, t(4; 10)(q21; p15) in an Arabian Mare with repeated early embryonic loss.. Reprod Domest Anim 2016;51(1):171–174.
    doi: 10.1111/rda.12636google scholar: lookup
  35. Ghosh S, Carden CF, Juras R, Mendoza MN, Jevit MJ, Castaneda C. Two novel cases of autosomal translocations in the horse: warmblood family segregating t(4;30) and a cloned Arabian with a de novo t(12;25).. Cytogenet Genome Res 2020;16:1–10.
    doi: 10.1159/000512206google scholar: lookup
  36. Bugno M, Słota E, Pieńkowska‐Schelling A, Schelling C. Identification of chromosome abnormalities in the horse using a panel of chromosome–specific painting probes generated by microdissection.. Acta Vet Hun 2009;57(3):369–381.
    doi: 10.1556/avet.57.2009.3.3google scholar: lookup
  37. Raudsepp T, Gustafson‐Seabury A, Durkin K, Wagner ML, Goh G, Seabury CM. A 4,103 marker integrated physical and comparative map of the horse genome.. Cytogenet Genome Res 2008;122(1):28–36.
    doi: 10.1159/000151313google scholar: lookup
  38. Janečka JE, Davis BW, Ghosh S, Paria N, Das PJ, Orlando L. Horse Y chromosome assembly displays unique evolutionary features and putative stallion fertility genes.. Nat Commun 2018;9(1):2945.
    doi: 10.1038/s41467-018-05290-6google scholar: lookup
  39. Raudsepp T, Chowdhary BP. The horse pseudoautosomalregion (PAR): characterization and comparison with the human, chimp and mouse PARs.. Cytogenet Genome Res 2008;121(2):102–109.
    doi: 10.1159/000125835google scholar: lookup
  40. Breen M, Langford CF, Carter NP, Fischer PE, Marti E, Gerstenberg C. Detection of equine X chromosome abnormalities in equids using a horse X whole chromosome paint probe (WCPP).. Vet J 1997;153(3):235–238.
    doi: 10.1016/s1090-0233(97)80057-3google scholar: lookup
  41. Mäkinen A, Hasegawa T, Mäkilä M, Katila T. Infertility in two mares with XY and XXX sex chromosomes.. Equine Vet J 1999;31(4):346–349.
    doi: 10.1111/j.2042-3306.1999.tb03829.xgoogle scholar: lookup
  42. Bugno M, Slota E, Wieczorek M, Yang F, Buczynski J, Switonski M. Nonmosaic X trisomy, detected by chromosome painting, in an infertile mare.. Equine Vet J 2003;35(2):209–210.
    doi: 10.2746/042516403776114207google scholar: lookup
  43. Hook EB, Warburton D. Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss.. Hum Genet 2014;133(4):417–424.
  44. Vorsanova SG, Kolotii AD, Kurinnaia OS, Kravets VS, Demidova IA, Soloviev IV. Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis.. Mol Cytogenet 2021;14:9.
    doi: 10.1186/s13039-021-00529-2google scholar: lookup
  45. Raudsepp T, Chowdhary BP. The eutherian pseudoautosomal region.. Cytogenet Genome Res 2016;147(2–3):81–94.
    doi: 10.1159/000443157google scholar: lookup
  46. Raudsepp T, Das PJ, Avila F, Chowdhary BP. The pseudoautosomal region and sex chromosome aneuploidies in domestic species.. Sex Dev 2012;6(1–3):72–83.
    doi: 10.1159/000330627google scholar: lookup
  47. Raudsepp T, Durkin K, Lear TL, Das PJ, Avila F, Kachroo P. Molecular heterogeneity of XY sex reversal in horses.. Anim Genet Suppl 2010;41(2):41–52.
    doi: 10.1111/j.1365-2052.2010.02101.xgoogle scholar: lookup
  48. Villagomez DA, Parma P, Radi O, Di Meo G, Pinton A, Iannuzzi L. Classical and molecular cytogenetics of disorders of sex development in domestic animals.. Cytogenet Genome Res 2009;126(1–2):110–131.
    doi: 10.1159/000245911google scholar: lookup
  49. Shilton CA, Kahler A, Davis BW, Crabtree JR, Crowhurst J, McGladdery AJ. Whole genome analysis reveals aneuploidies in early pregnancy loss in the horse.. Sci Rep 2020;10(1):13314.
    doi: 10.1038/s41598-020-69967-zgoogle scholar: lookup
  50. Rizzo M, Ducheyne KD, Deelen C, Beitsma M, Cristarella S, Quartuccio M. Advanced mare age impairs the ability of in vitro‐matured oocytes to correctly align chromosomes on the metaphase plate.. Equine Vet J 2019;51(2):252–257.
    doi: 10.1111/evj.12995google scholar: lookup
  51. Rizzo M, du Preez N, Ducheyne KD, Deelen C, Beitsma MM, Stout TAE. The horse as a natural model to study reproductive aging‐induced aneuploidy and weakened centromeric cohesion in oocytes.. Aging (Albany NY) 2020;12(21):22220–22232.
    doi: 10.18632/aging.104159google scholar: lookup
  52. Bugno‐Poniewierska M, Kozub D, Pawlina K, Tischner M, Tischner M, Słota E. Determination of the correlation between stallion's age and number of sex chromosome aberrations in spermatozoa.. Reprod Domest Anim 2011;46(5):787–792.
    doi: 10.1111/j.1439-0531.2010.01742.xgoogle scholar: lookup

Citations

This article has been cited 0 times.
Subscribe to our newsletter
Join 99,001 horse owners like you who receive our email updates on horse health and nutrition.