FREE SHIPPING over $40
OVER 9000 FIVE-STAR REVIEWS
5% OFF ALL SUBSCRIPTIONS
100% HAPPINESS GUARANTEE
Analyze Diet
0
Home / Equine Research Bank / Animals (Basel) / Horse Clinical Cytogenetics: Recurrent Themes and Novel Find...
Animals : an open access journal from MDPI2021; 11(3); 831; doi: 10.3390/ani11030831

Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings.

Abstract: Clinical cytogenetic studies in horses have been ongoing for over half a century and clearly demonstrate that chromosomal disorders are among the most common non-infectious causes of decreased fertility, infertility, and congenital defects. Large-scale cytogenetic surveys show that almost 30% of horses with reproductive or developmental problems have chromosome aberrations, whereas abnormal karyotypes are found in only 2-5% of the general population. Among the many chromosome abnormalities reported in the horse, most are unique or rare. However, all surveys agree that there are two recurrent conditions: X-monosomy and -negative XY male-to-female sex reversal, making up approximately 35% and 11% of all chromosome abnormalities, respectively. The two are signature conditions for the horse and rare or absent in other domestic species. The progress in equine genomics and the development of molecular tools, have qualitatively improved clinical cytogenetics today, allowing for refined characterization of aberrations and understanding the underlying molecular mechanisms. While cutting-edge genomics tools promise further improvements in chromosome analysis, they will not entirely replace traditional cytogenetics, which still is the most straightforward, cost-effective, and fastest approach for the initial evaluation of potential breeding animals and horses with reproductive or developmental disorders.
Get Full Text
Publication Date: 2021-03-16 PubMed ID: 33809432PubMed Central: PMC8001954DOI: 10.3390/ani11030831Google 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
  • Review

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 discusses the results of clinical cytogenetic studies in horses over the last 50 years. Findings show that chromosomal disorders are a leading non-infectious cause of reduced fertility, infertility, and congenital defects in horses. The study also reveals two recurrent conditions in horses: X-monosomy and negative XY male-to-female sex reversal.

About Horse Clinical Cytogenetics Studies

  • Clinical cytogenetic studies in horses refer to analyses of chromosomal organization and structure for determining genetic abnormalities that could affect horses’ health or reproduction.
  • These studies have been conducted for more than 50 years and have revealed that chromosomal disorders are among the most notable non-infectious causes of fertility problems and congenital defects in horses.
  • Large-scale cytogenetic surveys have shown that nearly one-third of horses with developmental or fertility issues have chromosomal abnormalities.

Most Common Chromosomal Disorders in Horses

  • Most of the chromosomal abnormalities identified in horses are either unique or rare.
  • However, all surveys agree on two recurrent conditions that predominately affect horses: X-monosomy and negative XY male-to-female sex reversal. These represent roughly 35% and 11% of all chromosomal abnormality cases, respectively.
  • These conditions are signature disorders for horses and are seldom found in other domesticated species.

Impact of Genomics and Molecular Tools

  • Advancements in the field of horse genomics and the development of molecular tools have substantially improved clinical cytogenetics.
  • These advancements have resulted in enhanced characterization of chromosomal aberrations and a better understanding of the underlying molecular mechanisms.

The Role of Traditional Cytogenetics in the Future

  • Though genomics tools are promising for future improvements in chromosome analysis, traditional cytogenetics will still be relevant.
  • Traditional cytogenetics will continue to be the most straightforward, cost-effective, and quickest method for the initial evaluation of potential breeding animals and horses with reproductive or developmental disorders.

Cite This Article

APA
Bugno-Poniewierska M, Raudsepp T. (2021). Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings. Animals (Basel), 11(3), 831. https://doi.org/10.3390/ani11030831

Publication

Animals : an open access journal from MDPI
ISSN: 2076-2615
NlmUniqueID: 101635614
Country: Switzerland
Language: English
Volume: 11
Issue: 3
PII: 831

Researcher Affiliations

Bugno-Poniewierska, Monika
  • Department of Animal Reproduction, Anatomy and Genomics, University of Agriculture in Krakow, 31-120 Krakow, Poland.
Raudsepp, Terje
  • Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX 77843-4458, USA.

Grant Funding

  • SUB/020013-D015 / University of Agriculture in Krakow
  • NCBiR:BIOSTRATEG2/297267/14/NCBR/2016 / Narodowe Centrum Badau0144 i Rozwoju
  • Morris Animal Foundation grant D19EQ-051 / Texas A&M Molecular Cytogenetics service
  • AFRI grant 2018-06521 / USDA

Conflict of Interest Statement

The authors declare no conflict of interest.

References

This article includes 207 references
  1. Bowling A.T.. Horse Genetics. CAB International; Wallingford, UK: 1996. p. 200.
  2. Bailey E., Brooks S.A.. Horse Genetics. 2nd ed. CAB International; Wallingford, UK: 2013. p. 200.
  3. Chowdhary B.P., Raudsepp T.. Cytogenetics and physical gene maps. In: Bowling A.T., Ruvinsky A., editors. The Genetics of the Horse. CABI; Wallingford, UK: 2000. pp. 171–242.
  4. Durkin K., Raudsepp T., Chowdhary B.. Cytogenetic Evaluation of the Stallion. In: Vaala W.E., Varner D.D., editors. Equine Reproduction. Wiley Blackwell; Chichester, UK: 2011. pp. 1462–1468.
  5. Lear T.L., Villagomez D.A.F.. Cytogenetic evaluation of mares and foals. In: Vaala W.E., Varner D.D., editors. Equine Reproduction. Blackwell Publishing Ltd.; Oxford, UK: 2011. pp. 1951–1962.
  6. Penedo M.C.T., Raudsepp T.. Molecular Genetic Testing and Karyotyping in the Horse. In: Chowdhary B.P., editor. Equine Genomics. Wiley-Blackwell; Oxford, UK: 2013. pp. 241–254.
  7. Raudsepp T., Das P.J.. Genomics of reproduction and fertility. In: Chowdhary B.P., editor. Equine Genomics. Wiley-Blackwell; Oxford, UK: 2013. pp. 199–216.
  8. Power M.M.. Chromosomes of the horse. Adv. Vet. Sci. Comp. Med. 1990;34:131–167.
  9. Lear TL, Bailey E. Equine clinical cytogenetics: the past and future.. Cytogenet Genome Res 2008;120(1-2):42-9.
    doi: 10.1159/000118739pubmed: 18467824google scholar: lookup
  10. 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
  11. Villagómez DA, Iannuzzi L, King WA. Disorders of sex development in domestic animals. Preface.. Sex Dev 2012;6(1-3):5-6.
    pubmed: 22343658doi: 10.1159/000332741google scholar: lookup
  12. 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
  13. Szczerbal I., Switonski M.. Chromosome Abnormalities in Domestic Animals as Causes of Disorders of Sex Development or Impaired Fertility. Insights Anim. Reprod. 2016;9:207–225.
  14. 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
  15. Raudsepp T, Finno CJ, Bellone RR, Petersen JL. Ten years of the horse reference genome: insights into equine biology, domestication and population dynamics in the post-genome era.. Anim Genet 2019 Dec;50(6):569-597.
    doi: 10.1111/age.12857pmc: PMC6825885pubmed: 31568563google scholar: lookup
  16. Kirillow S.. Die Spermatogenese beim Pferde. Arch. Fuer Mikrosk. Anat. 1912;79:A125–A127.
    doi: 10.1007/BF02982873google scholar: lookup
  17. Masui K.. A spermatogenesis of domestic mammals. I. The spermatogenesis of the horse (Equus caballus). J. Coll. Agric. Tokyo Imp. Univ. 1919:3.
  18. Painter T.S.. Studies in mammalian spermatogenesis. V. The chromosomes of the horse. J. Exp. Zool. 1924;39:229–247.
    doi: 10.1002/jez.1400390204google scholar: lookup
  19. Wodsedalek J.E.. Spermatogenesis of the horse with special reference to the accessory chromosome and the chromatoid body. Biol. Bull. 1914;27:295–325.
    doi: 10.2307/1535918google scholar: lookup
  20. Makino S.. The chromosomes of the horse (Equus caballus). Cytologia 1942;13:26–38.
    doi: 10.1508/cytologia.13.26google scholar: lookup
  21. Rothfels K.H., Alexrad A.A., Siminovitch L., Parker R.C.M.. The origin of altered cell lines from mouse, monkey and man, as indicated by chromosome and transplantation studies. Proc. Can. Cancer Res. Conf. 1959;3:189–214.
  22. MOORHEAD PS, NOWELL PC, MELLMAN WJ, BATTIPS DM, HUNGERFORD DA. Chromosome preparations of leukocytes cultured from human peripheral blood.. Exp Cell Res 1960 Sep;20:613-6.
    doi: 10.1016/0014-4827(60)90138-5pubmed: 13772379google scholar: lookup
  23. Makino S., Sofuni T., Sasaki M.S.. A revised study of the chromosomes of the horse, the ass and the mule. Proc. Jpn. Acad. 1963;39:176–181.
    doi: 10.2183/pjab1945.39.176google scholar: lookup
  24. Seabright M. A rapid banding technique for human chromosomes.. Lancet 1971 Oct 30;2(7731):971-2.
    doi: 10.1016/S0140-6736(71)90287-Xpubmed: 4107917google scholar: lookup
  25. Schweizer D, Ambros P, Andrle M. Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide antibiotic, distamycin A.. Exp Cell Res 1978 Feb;111(2):327-32.
    doi: 10.1016/0014-4827(78)90177-5pubmed: 75107google scholar: lookup
  26. Arrighi FE, Hsu TC. Localization of heterochromatin in human chromosomes.. Cytogenetics 1971;10(2):81-6.
    doi: 10.1159/000130130pubmed: 4106483google scholar: lookup
  27. 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: 10.1159/000511236pubmed: 33152736google scholar: lookup
  28. Raudsepp T, Durkin K, Lear TL, Das PJ, Avila F, Kachroo P, Chowdhary BP. Molecular heterogeneity of XY sex reversal in horses.. Anim Genet 2010 Dec;41 Suppl 2:41-52.
    doi: 10.1111/j.1365-2052.2010.02101.xpubmed: 21070275google scholar: lookup
  29. Dutrillaux B, Lejeune J. [A new technic of analysis of the human karyotype].. C R Acad Hebd Seances Acad Sci D 1971 May 17;272(20):2638-40.
    pubmed: 4104656
  30. Goodpasture C, Bloom SE. Visualization of nucleolar organizer regions im mammalian chromosomes using silver staining.. Chromosoma 1975 Nov 20;53(1):37-50.
    doi: 10.1007/BF00329389pubmed: 53131google scholar: lookup
  31. Iannuzzi L., di Meo G.P., Perucatti A., Incarnato D., Peretti V., Ciotola F., Barbieri V.. An improved characterization of horse (Equus caballus, 2n = 64) chromosomes by using replicating G and R banding patterns. Caryologia 2003;56:205–211.
    doi: 10.1080/00087114.2003.10589326google scholar: lookup
  32. Rønne M. Putative fragile sites in the horse karyotype.. Hereditas 1992;117(2):127-36.
    doi: 10.1111/j.1601-5223.1992.tb00166.xpubmed: 1459856google scholar: lookup
  33. Wnuk M, Villagómez DA, Bugno-Poniewierska M, Tumidajewicz P, Carter TF, Slota E. Nucleolar organizer regions (NORs) distribution and behavior in spermatozoa and meiotic cells of the horse (Equus caballus).. Theriogenology 2012 Feb;77(3):579-87.
    doi: 10.1016/j.theriogenology.2011.08.034pubmed: 22056014google scholar: lookup
  34. Ford CE, Pollock DL, Gustavsson I. Proceedings of the First International Conference for the Standardisation of Banded Karyotypes of Domestic Animals. University of Reading Reading, England. 2nd-6th August 1976.. Hereditas 1980;92(1):145-62.
    doi: 10.1111/j.1601-5223.1980.tb01688.xpubmed: 6103884google scholar: lookup
  35. Richer CL, Power MM, Klunder LR, McFeely RA, Kent MG. Standard karyotype of the domestic horse (Equus caballus). Committee for standardized karyotype of Equus caballus. The Second International Conference for Standardization of Domestic Animal Karyotypes, INRA, Jouy-en Josas, France, 22nd-26th May 1989.. Hereditas 1990;112(3):289-93.
    doi: 10.1111/j.1601-5223.1990.tb00069.xpubmed: 1976611google scholar: lookup
  36. Bowling AT, Breen M, Chowdhary BP, Hirota K, Lear T, Millon LV, Ponce de Leon FA, Raudsepp T, Stranzinger G. International system for cytogenetic nomenclature of the domestic horse. Report of the Third International Committee for the Standardization of the domestic horse karyotype, Davis, CA, USA, 1996.. Chromosome Res 1997 Nov;5(7):433-43.
    doi: 10.1023/A:1018408811881pubmed: 9421259google scholar: lookup
  37. Das PJ, Lyle SK, Beehan D, Chowdhary BP, Raudsepp T. Cytogenetic and molecular characterization of Y isochromosome in a 63XO/64Xi(Yq) mosaic karyotype of an intersex horse.. Sex Dev 2012;6(1-3):117-27.
    doi: 10.1159/000332212pubmed: 22005008google scholar: lookup
  38. Janečka JE, Davis BW, Ghosh S, Paria N, Das PJ, Orlando L, Schubert M, Nielsen MK, Stout TAE, Brashear W, Li G, Johnson CD, Metz RP, Zadjali AMA, Love CC, Varner DD, Bellott DW, Murphy WJ, Chowdhary BP, Raudsepp T. Horse Y chromosome assembly displays unique evolutionary features and putative stallion fertility genes.. Nat Commun 2018 Jul 27;9(1):2945.
    doi: 10.1038/s41467-018-05290-6pmc: PMC6063916pubmed: 30054462google scholar: lookup
  39. Wade CM, Giulotto E, Sigurdsson S, Zoli M, Gnerre S, Imsland F, Lear TL, Adelson DL, Bailey E, Bellone RR, Blöcker H, Distl O, Edgar RC, Garber M, Leeb T, Mauceli E, MacLeod JN, Penedo MC, Raison JM, Sharpe T, Vogel J, Andersson L, Antczak DF, Biagi T, Binns MM, Chowdhary BP, Coleman SJ, Della Valle G, Fryc S, Guérin G, Hasegawa T, Hill EW, Jurka J, Kiialainen A, Lindgren G, Liu J, Magnani E, Mickelson JR, Murray J, Nergadze SG, Onofrio R, Pedroni S, Piras MF, Raudsepp T, Rocchi M, Røed KH, Ryder OA, Searle S, Skow L, Swinburne JE, Syvänen AC, Tozaki T, Valberg SJ, Vaudin M, White JR, Zody MC, Lander ES, Lindblad-Toh K. Genome sequence, comparative analysis, and population genetics of the domestic horse.. Science 2009 Nov 6;326(5954):865-7.
    doi: 10.1126/science.1178158pmc: PMC3785132pubmed: 19892987google scholar: lookup
  40. Deriusheva SE, Loginova IuA, Chiriaeva OG, Iaschak K, Smirnov AF. [Analysis of the distribution of ribosomal RNA genes on chromosomes of the domestic horse (Equus caballus) using fluorescent in situ hybridization].. Genetika 1997 Sep;33(9):1281-6.
    pubmed: 9445820
  41. Loginova J., Derjusheva S., Jasczak K.. Some cases of NOR instability in horse chromosomes. Cytogenet. Cell Genet. 1996;74:236.
  42. Payne HW, Ellsworth K, DeGroot A. Aneuploidy in an infertile mare.. J Am Vet Med Assoc 1968 Nov 15;153(10):1293-9.
    pubmed: 5748473
  43. Chandley AC, Fletcher J, Rossdale PD, Peace CK, Ricketts SW, McEnery RJ, Thorne JP, Short RV, Allen WR. Chromosome abnormalities as a cause of infertility in mares.. J Reprod Fertil Suppl 1975 Oct;(23):377-83.
    pubmed: 1060811
  44. Bowling AT, Millon L, Hughes JP. An update of chromosomal abnormalities in mares.. J Reprod Fertil Suppl 1987;35:149-55.
    pubmed: 3479571
  45. Parada R., Jaszczak K., Sysa P., Jaszczak J.. Cytogenetic investigations of mares with fertility disturbances. Pr. Mat. Zoot. 1996;48:71–81.
  46. 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
  47. 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
  48. Pawlak M., Rogalska-Niżnik N., Cholewiński G., Świtoński M.. Study on the origin of 64,XX/63,X karyotype in four sterile mares. Vet. Med. Czech. 2000;45:01–06.
  49. Bugno-Poniewierska M., Wojtaszek M., Pawlina-Tyszko K., Kowalska K., Witarski W., Raudsepp T.. Evaluation of the prevalence of sex chromosome aberrations in a population of young horses—Preliminary results. Proceedings of the Doroty Russell Havemeyer 12th International Horse Genome Workshop; Pavia, Italy. 12–15 September 2018.
  50. Wojtaszek M., Kowalska K., Witarski W., Bugno-Poniewierska M.. Diagnostics of horse karyotype aberrations—The initial results of screening. Wiadomości Zootech. R. Lv. 2017;5:49–55.
  51. 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: 10.1159/000330627pubmed: 21876343google scholar: lookup
  52. Ruiz AJ, Castaneda C, Raudsepp T, Tibary A. Azoospermia and Y Chromosome-Autosome Translocation in a Friesian Stallion.. J Equine Vet Sci 2019 Nov;82:102781.
    doi: 10.1016/j.jevs.2019.07.002pubmed: 31732110google scholar: lookup
  53. 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
  54. Ghosh S, Carden CF, Juras R, Mendoza MN, Jevit MJ, Castaneda C, Phelps O, Dube J, Kelley DE, Varner DD, Love CC, Raudsepp T. 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;160(11-12):688-697.
    pubmed: 33326979doi: 10.1159/000512206google scholar: lookup
  55. 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 Feb;51(1):171-4.
    doi: 10.1111/rda.12636pubmed: 26547799google scholar: lookup
  56. Lear T.L., Raudsepp T., Lundquist J.M., Brown S.E.. Repeated early embryonic loss in a thoroughbred mare with a chromosomal translocation [64, XX, t (2; 13)]. J. Equine Vet. Sci. 2014;34:805–809.
    doi: 10.1016/j.jevs.2014.01.007google scholar: lookup
  57. Brito L.F.C., Sertich P.L., Durkin K., Chowdhary B.P., Turner R.M., Greene L.M., McDonnell S.. Autosomal 27 trisomy in a standardbred colt. J. Equine Vet. Sci. 2008;28:431–436.
    doi: 10.1016/j.jevs.2008.06.003google scholar: lookup
  58. Ghosh S, Davis BW, Rosengren M, Jevit MJ, Castaneda C, Arnold C, Jaxheimer J, Love CC, Varner DD, Lindgren G, Wade CM, Raudsepp T. Characterization of A Homozygous Deletion of Steroid Hormone Biosynthesis Genes in Horse Chromosome 29 as A Risk Factor for Disorders of Sex Development and Reproduction.. Genes (Basel) 2020 Feb 27;11(3).
    doi: 10.3390/genes11030251pmc: PMC7140900pubmed: 32120906google scholar: lookup
  59. Gill JJ, Kempski HM, Hallows BJ, Warren AM. A 64XX/65XXX mosaic mare (Equus caballus) and associated infertility.. Equine Vet J 1988 Mar;20(2):128-30.
    doi: 10.1111/j.2042-3306.1988.tb01475.xpubmed: 3371315google scholar: lookup
  60. Höhn H., Klug E., Rieck G.W.. A 63,XO/65,XYY mosaic in a case of questionable equine male pseudohermaphroditism. Proceedings of the 4 th European Colloquium on Cytogenetics of Domestic Animals; Uppsala, Sweden. 10–13 June 1980; pp. 82–92.
  61. Paget S, Ducos A, Mignotte F, Raymond I, Pinton A, Séguéla A, Berland HM, Brun-Baronnat C, Darré A, Darré R, Tamzali Y, Bergonier D, Berthelot X. 63,XO/65,XYY mosaicism in a case of equine male pseudohermaphroditism.. Vet Rec 2001 Jan 6;148(1):24-5.
    doi: 10.1136/vr.148.1.24pubmed: 11200403google scholar: lookup
  62. Stewart-Scott IA. Infertile mares with chromosome abnormalities.. N Z Vet J 1988 Jun;36(2):63-5.
    doi: 10.1080/00480169.1988.35483pubmed: 16031443google scholar: lookup
  63. Halnan C.R.E., Watson J.I., Pryde L.C.. Detection by G-and C-band karyotyping of gonosome anomalies in horses of different breeds. J. Reprod. Fert. Suppl. 1982;32:627–662.
  64. Bugno M, Zabek 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):123-6.
    doi: 10.1159/000118750pubmed: 18467835google scholar: lookup
  65. Klunder LR, McFeely RA, Willard JP. Six separate sex chromosome anomalies in an Arabian mare.. Equine Vet J 1990 May;22(3):218-20.
    doi: 10.1111/j.2042-3306.1990.tb04252.xpubmed: 2361514google scholar: lookup
  66. Neuhauser S, Handler J, Schelling C, Pieńkowska-Schelling A. Fertility and 63,X Mosaicism in a Haflinger Sibship.. J Equine Vet Sci 2019 Jul;78:127-133.
    doi: 10.1016/j.jevs.2019.05.008pubmed: 31203976google scholar: lookup
  67. Mushtag A., Memon B.V.. Sterility Associated with 64,XX/64,XY,63,X0 mosaic karyotype in a Belgian mare. Equine Pract. 1994;16:24–26.
  68. Mäkinen A., Hasegawa T., Syriä P., Katila T.. Infertile mares with XO and XY sex chromosome deviations. Equine Vet. Educ. 2006;18:60–62.
    doi: 10.1111/j.2042-3292.2006.tb00415.xgoogle scholar: lookup
  69. Jaszczak K., Sysa P.. Anomalie chromosomowe u koni i ich skutki w reprodukcji. Przegląd. Hod. 1992;12:13–15.
  70. Halnan CR. Equine cytogenetics: role in equine veterinary practice.. Equine Vet J 1985 May;17(3):173-7.
    doi: 10.1111/j.2042-3306.1985.tb02461.xpubmed: 4076124google scholar: lookup
  71. Bugno M., Słota E., Ząbek T.. Two cases of subfertile mares with 64,XX/63,X mosaic karyotype. Ann. Anim. Sci. 2001;1:7–11.
  72. Breen M, Langford CF, Carter NP, Fischer PE, Marti E, Gerstenberg C, Allen WR, Lear TL, Binns MM. Detection of equine X chromosome abnormalities in equids using a horse X whole chromosome paint probe (WCPP).. Vet J 1997 May;153(3):235-8.
    doi: 10.1016/S1090-0233(97)80057-3pubmed: 9232112google scholar: lookup
  73. Mäkinen A, Hasegawa T, Mäkilä M, Katila T. Infertility in two mares with XY and XXX sex chromosomes.. Equine Vet J 1999 Jul;31(4):346-9.
    doi: 10.1111/j.2042-3306.1999.tb03829.xpubmed: 10454097google scholar: lookup
  74. 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 Mar;35(2):209-10.
    doi: 10.2746/042516403776114207pubmed: 12638800google scholar: lookup
  75. de Lorenzi L, Molteni L, Zannotti M, Galli C, Parma P. X trisomy in a sterile mare.. Equine Vet J 2010 Jul;42(5):469-70.
    doi: 10.1111/j.2042-3306.2010.0094.xpubmed: 20636786google scholar: lookup
  76. Kubień EM, Pozor MA, Tischner M. Clinical, cytogenetic and endocrine evaluation of a horse with a 65,XXY karyotype.. Equine Vet J 1993 Jul;25(4):333-5.
    doi: 10.1111/j.2042-3306.1993.tb02976.xpubmed: 8354222google scholar: lookup
  77. Mäkinen A, Katila T, Andersson M, Gustavsson I. Two sterile stallions with XXY-syndrome.. Equine Vet J 2000 Jul;32(4):358-60.
    doi: 10.2746/042516400777032138pubmed: 10952388google scholar: lookup
  78. Iannuzzi L., Di Meo G.P., Perucatti A., Spadetta M., Incarnato D., Parma P., Iannuzzi A., Ciotola F., Peretti V., Perrotta G.. Clinical, cytogenetic and molecular studies on sterile stallion and mare affected by XXY and sex reversal syndromes, respectively. Caryologia 2004;57:400–404.
  79. 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
  80. Bielański W., Kleczkowska A., Tischner M., Jagiarz M.. Comparative cytogenetic examinations of parents and sibilding of colt with a false masculine hermaphroditism. Med. Wet. 1980;36:492–494.
  81. Bugno M., Pieńkowska-Schelling A., Schelling C., Włodarczyk N., Słota E.. A probe generated by chromosome microdissection, useful for detection of equine X chromosome aneuploidy. Ann. Anim. Sci. 2006;6:205–210.
  82. Basrur PK, Kanagawa H, Gilman JP. An equine intersex with unilateral gonadal agenesis.. Can J Comp Med 1969 Oct;33(4):297-306.
    pmc: PMC1319451pubmed: 4391028
  83. Dunn HO, Vaughan JT, McEntee K. Bilaterally cryptorchid stallion with female karyotype.. Cornell Vet 1974 Apr;64(2):265-75.
    pubmed: 4151132
  84. Klunder L.R., McFeeley R.A.. Chromosome analysis of 130 equine clinical cases. Proceedings of the 6th North American Colloquium on Cytogenetics of Domestic Animals; West Lafayette, IN, USA. 1989. p. 8.
  85. Chandley AC. Infertility and chromosome abnormality.. Oxf Rev Reprod Biol 1984;6:1-46.
    pubmed: 6397710
  86. Nicolas F.W.. Veterinary Genetics. Oxford University Press; New York, NY, USA: 1987. p. 580.
  87. Marx MB, Melnyk J, Persinger G, Ono S, McGee W, Kaufman W, Pessin A, Gillespie R. Cytogenetics of the superhorse.. J Hered 1973 Mar-Apr;64(2):95-8.
    doi: 10.1093/oxfordjournals.jhered.a108363pubmed: 4711254google scholar: lookup
  88. 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-zpmc: PMC7415156pubmed: 32769994google scholar: lookup
  89. Colley E, Hamilton S, Smith P, Morgan NV, Coomarasamy A, Allen S. Potential genetic causes of miscarriage in euploid pregnancies: a systematic review.. Hum Reprod Update 2019 Jul 1;25(4):452-472.
    doi: 10.1093/humupd/dmz015pubmed: 31150545google scholar: lookup
  90. Hyde KJ, Schust DJ. Genetic considerations in recurrent pregnancy loss.. Cold Spring Harb Perspect Med 2015 Feb 6;5(3):a023119.
    doi: 10.1101/cshperspect.a023119pmc: PMC4355257pubmed: 25659378google scholar: lookup
  91. Power MM. Equine half sibs with an unbalanced X;15 translocation or trisomy 28.. Cytogenet Cell Genet 1987;45(3-4):163-8.
    doi: 10.1159/000132448pubmed: 3691181google scholar: lookup
  92. Bowling AT, Millon LV. Two autosomal trisomies in the horse: 64,XX,-26,+t(26q26q) and 65,XX,+30.. Genome 1990 Oct;33(5):679-82.
    doi: 10.1139/g90-101pubmed: 2262139google scholar: lookup
  93. Zhang T.Q., Bellamy J., Buwn L.C., Weber A.F., Ruth G.R.. Autosomal trisomy in a foal with contracted tendon syndrome. Proceedings of the 10th European Colloqium on Cytogenetics of Domestic Animals; Utrecht, The Netherlands. 18–21 August 1992; pp. 281–284.
  94. Buoen LC, Zhang TQ, Weber AF, Turner T, Bellamy J, Ruth GR. Arthrogryposis in the foal and its possible relation to autosomal trisomy.. Equine Vet J 1997 Jan;29(1):60-2.
    doi: 10.1111/j.2042-3306.1997.tb01638.xpubmed: 9031866google scholar: lookup
  95. Holl HM, Lear TL, Nolen-Walston RD, Slack J, Brooks SA. Detection of two equine trisomies using SNP-CGH.. Mamm Genome 2013 Jun;24(5-6):252-6.
    doi: 10.1007/s00335-013-9450-6pubmed: 23515943google scholar: lookup
  96. Lear TL, Cox JH, Kennedy GA. Autosomal trisomy in a Thoroughbred colt: 65,XY,+31.. Equine Vet J 1999 Jan;31(1):85-8.
    doi: 10.1111/j.2042-3306.1999.tb03796.xpubmed: 9952335google scholar: lookup
  97. Kubien EM, Tischner M. Reproductive success of a mare with a mosaic karyotype: 64,XX/65,XX,+30.. Equine Vet J 2002 Jan;34(1):99-100.
    doi: 10.2746/042516402776181240pubmed: 11817560google scholar: lookup
  98. Cuckle H, Morris J. Maternal age in the epidemiology of common autosomal trisomies.. Prenat Diagn 2021 Apr;41(5):573-583.
    doi: 10.1002/pd.5840pubmed: 33078428google scholar: lookup
  99. Weckselblatt B, Rudd MK. Human Structural Variation: Mechanisms of Chromosome Rearrangements.. Trends Genet 2015 Oct;31(10):587-599.
    doi: 10.1016/j.tig.2015.05.010pmc: PMC4600437pubmed: 26209074google scholar: lookup
  100. Morin SJ, Eccles J, Iturriaga A, Zimmerman RS. Translocations, inversions and other chromosome rearrangements.. Fertil Steril 2017 Jan;107(1):19-26.
    doi: 10.1016/j.fertnstert.2016.10.013pubmed: 27793378google scholar: lookup
  101. King WA. Chromosome variation in the embryos of domestic animals.. Cytogenet Genome Res 2008;120(1-2):81-90.
    doi: 10.1159/000118743pubmed: 18467828google scholar: lookup
  102. Power MM. The first description of a balanced reciprocal translocation [t(1q;3q)] and its clinical effects in a mare.. Equine Vet J 1991 Mar;23(2):146-9.
    doi: 10.1111/j.2042-3306.1991.tb02742.xpubmed: 2044510google scholar: lookup
  103. Long SE. Tandem 1;30 translocation: a new structural abnormality in the horse (Equus caballus).. Cytogenet Cell Genet 1996;72(2-3):162-3.
    doi: 10.1159/000134176pubmed: 8978763google scholar: lookup
  104. Lear TL, Layton G. Use of zoo-FISH to characterise a reciprocal translocation in a thoroughbred mare: t(1;1 6)(q16;q21.3).. Equine Vet J 2002 Mar;34(2):207-9.
    doi: 10.2746/042516402776767295pubmed: 11902765google scholar: lookup
  105. Lear TL, Lundquist J, Zent WW, Fishback WD Jr, 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):117-22.
    doi: 10.1159/000118749pubmed: 18467834google scholar: lookup
  106. LYON MF. Gene action in the X-chromosome of the mouse (Mus musculus L.).. Nature 1961 Apr 22;190:372-3.
    doi: 10.1038/190372a0pubmed: 13764598google scholar: lookup
  107. LYON MF. Sex chromatin and gene action in the mammalian X-chromosome.. Am J Hum Genet 1962 Jun;14(2):135-48.
    pmc: PMC1932279pubmed: 14467629
  108. Cantone I, Fisher AG. Human X chromosome inactivation and reactivation: implications for cell reprogramming and disease.. Philos Trans R Soc Lond B Biol Sci 2017 Nov 5;372(1733).
    doi: 10.1098/rstb.2016.0358pmc: PMC5627160pubmed: 28947657google scholar: lookup
  109. Carrel L, Brown CJ. When the Lyon(ized chromosome) roars: ongoing expression from an inactive X chromosome.. Philos Trans R Soc Lond B Biol Sci 2017 Nov 5;372(1733).
    doi: 10.1098/rstb.2016.0355pmc: PMC5627157pubmed: 28947654google scholar: lookup
  110. Waters PD, Ruiz-Herrera A. Meiotic Executioner Genes Protect the Y from Extinction.. Trends Genet 2020 Oct;36(10):728-738.
    doi: 10.1016/j.tig.2020.06.008pubmed: 32773168google scholar: lookup
  111. Donaldson B, Villagomez DAF, Revay T, Rezaei S, King WA. Non-Random Distribution of Reciprocal Translocation Breakpoints in the Pig Genome.. Genes (Basel) 2019 Sep 30;10(10).
    doi: 10.3390/genes10100769pmc: PMC6826608pubmed: 31575040google scholar: lookup
  112. Ghosh S, Qu Z, Das PJ, Fang E, Juras R, Cothran EG, McDonell S, Kenney DG, Lear TL, Adelson DL, Chowdhary BP, Raudsepp T. Copy number variation in the horse genome.. PLoS Genet 2014 Oct;10(10):e1004712.
    doi: 10.1371/journal.pgen.1004712pmc: PMC4207638pubmed: 25340504google scholar: lookup
  113. McFeely R.A., Klunder L.R., Byars D.. Equine infertility associated with autosomal mixoploidy. Proceedings of the 6th North American Colloquium on Domestic Animal Cytogenetics; West Lafayette, IN, USA. 1989. p. 7.
  114. Brooks SA, Lear TL, Adelson DL, Bailey E. A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses.. Cytogenet Genome Res 2007;119(3-4):225-30.
    doi: 10.1159/000112065pubmed: 18253033google scholar: lookup
  115. ISCN. In: An International System for Human Cytogenomic Nomenclature. McGowan-Jordan J., Hastings R.J., Moore S., editors. S. Karger AG; Basel, Switzerland: 2020. p. 163.
  116. Mäkelä O, Gustavsson I, Hollmén T. A 64,X,i(Xq) karyotype in a standardbred filly.. Equine Vet J 1994 May;26(3):251-4.
    doi: 10.1111/j.2042-3306.1994.tb04381.xpubmed: 8542850google scholar: lookup
  117. Herzog A, Höhn H, Klug E, Hecht W. [A sex chromosome mosaic in male pseudohermaphroditism in a horse].. Tierarztl Prax 1989;17(2):171-5.
    pubmed: 2763289
  118. Bugno-Poniewierska M., Ząbek T., Pawlina K., Klukowska-Rötzler J., Rojek M., Słota E.. Y isochromosome in mare with sex chromosome mosaicism 63,X/64,XYqi. Proceedings of the 19th International Colloquium on Animal Cytogenetics and Gene Mapping; Balice/Kraków, Poland. 6–9 June 2010; p. 86.
  119. Riggs PK, Rønne M. Fragile sites in domestic animal chromosomes: molecular insights and challenges.. Cytogenet Genome Res 2009;126(1-2):97-109.
    doi: 10.1159/000245910pubmed: 20016160google scholar: lookup
  120. Durkin SG, Glover TW. Chromosome fragile sites.. Annu Rev Genet 2007;41:169-92.
    doi: 10.1146/annurev.genet.41.042007.165900pubmed: 17608616google scholar: lookup
  121. Santagostino M, Piras FM, Cappelletti E, Del Giudice S, Semino O, Nergadze SG, Giulotto E. Insertion of Telomeric Repeats in the Human and Horse Genomes: An Evolutionary Perspective.. Int J Mol Sci 2020 Apr 18;21(8).
    doi: 10.3390/ijms21082838pmc: PMC7215372pubmed: 32325780google scholar: lookup
  122. Malan V, Vekemans M, Turleau C. Chimera and other fertilization errors.. Clin Genet 2006 Nov;70(5):363-73.
    doi: 10.1111/j.1399-0004.2006.00689.xpubmed: 17026615google scholar: lookup
  123. Keszka J., Jaszczak K., Klewiec J.. High frequency of lymphocyte chimerism XX/XY and an analysis of hereditary occurrence of placental anastomoses in Booroola sheep. J. Anim. Breed. Genet. Z. Fur Tierz. Und. Zucht. 2001;118:135–140.
    doi: 10.1046/j.1439-0388.2001.00274.xgoogle scholar: lookup
  124. Komisarek J, Dorynek Z. Genetic aspects of twinning in cattle.. J Appl Genet 2002;43(1):55-68.
    pubmed: 12084971
  125. 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
  126. 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
  127. 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
  128. 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
  129. Bugno M., Slota E., Tischner M., Kozubska-Sobocinska A.. A case of 64,XX/64,XY leucocytic chimerism in a fertile mare of the Wielkopolska breed. Ann. Anim. Sci. 1999;26:9–16.
  130. Gustavsson I.. Fertility of sires born as dizygotic twins and sex ratio in their progeny groups. Ann. Genet. Sel Anim. 1977;9:531.
    doi: 10.1186/1297-9686-9-4-531Bgoogle scholar: lookup
  131. Zhang T, Buoen LC, Seguin BE, Ruth GR, Weber AF. Diagnosis of freemartinism in cattle: the need for clinical and cytogenic evaluation.. J Am Vet Med Assoc 1994 May 15;204(10):1672-5.
    pubmed: 8050953
  132. Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex.. Pediatrics 2006 Aug;118(2):e488-500.
    doi: 10.1542/peds.2006-0738pubmed: 16882788google scholar: lookup
  133. 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
  134. Raudsepp T. Genetics of Equine Reproductive Diseases.. Vet Clin North Am Equine Pract 2020 Aug;36(2):395-409.
    doi: 10.1016/j.cveq.2020.03.013pubmed: 32534849google scholar: lookup
  135. Power MM. XY sex reversal in a mare.. Equine Vet J 1986 May;18(3):233-6.
    doi: 10.1111/j.2042-3306.1986.tb03609.xpubmed: 3732247google scholar: lookup
  136. Kent MG, Shoffner RN, Buoen L, Weber AF. XY sex-reversal syndrome in the domestic horse.. Cytogenet Cell Genet 1986;42(1-2):8-18.
    doi: 10.1159/000132243pubmed: 3720361google scholar: lookup
  137. Kent MG, Shoffner RN, Hunter A, Elliston KO, Schroder W, Tolley E, Wachtel SS. XY sex reversal syndrome in the mare: clinical and behavioral studies, H-Y phenotype.. Hum Genet 1988 Aug;79(4):321-8.
    doi: 10.1007/BF00282169pubmed: 3410457google scholar: lookup
  138. Pailhoux E, Cribiu EP, Parma P, Cotinot C. Molecular analysis of an XY mare with gonadal dysgenesis.. Hereditas 1995;122(2):109-12.
    doi: 10.1111/j.1601-5223.1995.00109.xpubmed: 7558880google scholar: lookup
  139. Meyers-Wallen VN, Hurtgen J, Schlafer D, Tulleners E, Cleland WR, Ruth GR, Acland GM. Sry-negative XX true hermaphroditism in a Pasa Fino horse.. Equine Vet J 1997 Sep;29(5):404-8.
    doi: 10.1111/j.2042-3306.1997.tb03148.xpubmed: 9306070google scholar: lookup
  140. 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 Jul;31(4):336-8.
    doi: 10.1111/j.2042-3306.1999.tb03813.xpubmed: 10454094google scholar: lookup
  141. 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
  142. Pieńkowska-Schelling A, Becker D, Bracher V, Pineroli B, Schelling C. [Cytogenetical and molecular analyses in a horse with SRY-negative sex reversal].. Schweiz Arch Tierheilkd 2014 Jul;156(7):341-4.
    pubmed: 24973322doi: 10.1024/0036-7281/a000604google scholar: lookup
  143. 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
  144. Bugno M, Klukowska J, Słota E, Tischner M, Switoński M. A sporadic case of the sex-reversed mare (64,XY; SRY-negative): molecular and cytogenetic studies of the Y chromosome.. Theriogenology 2003 Apr 1;59(7):1597-603.
    doi: 10.1016/S0093-691X(02)01197-4pubmed: 12559464google scholar: lookup
  145. Sant'Anna Monteiro da Silva E, Zanzarini Delfiol DJ, Fabris VH, Mendonça Santos B, Nogueira GM, Oliveira Guimarães GB, Paulo de Oliveira Nogueira P, Lima Silveira da Mota LS. Teratoma Associated With Testicular Tissue in a Female-Like Horse With 64,XY (SRY-Positive) Disorder of Sex Development.. J Equine Vet Sci 2020 Sep;92:103177.
    doi: 10.1016/j.jevs.2020.103177pubmed: 32797799google scholar: lookup
  146. Knobbe MG, Maenhoudt C, Turner RM, McDonnell SM. Physical, behavioral, endocrinologic, and cytogenetic evaluation of two Standardbred racehorses competing as mares with an intersex condition and high postrace serum testosterone concentrations.. J Am Vet Med Assoc 2011 Mar 15;238(6):751-4.
    doi: 10.2460/javma.238.6.751pubmed: 21401432google scholar: lookup
  147. Howden KJ. Androgen insensitivity syndrome in a thoroughbred mare (64, XY--testicular feminization).. Can Vet J 2004 Jun;45(6):501-3.
    pmc: PMC548633pubmed: 15283519
  148. Crabbe BG, Freeman DA, Grant BD, Kennedy P, Whitlatch L, MacRae K. Testicular feminization syndrome in a mare.. J Am Vet Med Assoc 1992 Jun 1;200(11):1689-91.
    pubmed: 1624347
  149. Switonski M, Chmurzynska A, Szczerbal I, Lipczynski A, Yang F, Nowicka-Posłuszna A. Sex reversal syndrome (64,XY; SRY-positive) in a mare demonstrating masculine behaviour.. J Anim Breed Genet 2005 Apr;122 Suppl 1:60-3.
    doi: 10.1111/j.1439-0388.2005.00510.xpubmed: 16130458google scholar: lookup
  150. Révay T, Villagómez DA, Brewer D, Chenier T, King WA. GTG mutation in the start codon of the androgen receptor gene in a family of horses with 64,XY disorder of sex development.. Sex Dev 2012;6(1-3):108-16.
    doi: 10.1159/000334049pubmed: 22095250google scholar: lookup
  151. Bolzon C, Joonè CJ, Schulman ML, Harper CK, Villagómez DA, King WA, Révay T. Missense Mutation in the Ligand-Binding Domain of the Horse Androgen Receptor Gene in a Thoroughbred Family with Inherited 64,XY (SRY+) Disorder of Sex Development.. Sex Dev 2016;10(1):37-44.
    doi: 10.1159/000444991pubmed: 27073903google scholar: lookup
  152. Welsford GE, Munk R, Villagómez DA, Hyttel P, King WA, Revay T. Androgen Insensitivity Syndrome in a Family of Warmblood Horses Caused by a 25-bp Deletion of the DNA-Binding Domain of the Androgen Receptor Gene.. Sex Dev 2017;11(1):40-45.
    doi: 10.1159/000455114pubmed: 28192783google scholar: lookup
  153. Terribile M, Stizzo M, Manfredi C, Quattrone C, Bottone F, Giordano DR, Bellastella G, Arcaniolo D, De Sio M. 46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review.. Medicina (Kaunas) 2019 Jul 12;55(7).
    doi: 10.3390/medicina55070371pmc: PMC6681203pubmed: 31336995google scholar: lookup
  154. Bannasch D, Rinaldo C, Millon L, Latson K, Spangler T, Hubberty S, Galuppo L, Lowenstine L. SRY negative 64,XX intersex phenotype in an American saddlebred horse.. Vet J 2007 Mar;173(2):437-9.
    doi: 10.1016/j.tvjl.2005.11.008pubmed: 16386440google scholar: lookup
  155. Buoen LC, Zhang TQ, Weber AF, Ruth GR. SRY-negative, XX intersex horses: the need for pedigree studies to examine the mode of inheritance of the condition.. Equine Vet J 2000 Jan;32(1):78-81.
    doi: 10.2746/042516400777612071pubmed: 10661390google scholar: lookup
  156. Jaszczak K., Sysa P., Sacharczuk M., Parada R., Romanowicz K., Kawka M., Jarmuz W.. SRY-negative, 64,XX sex reversal in a Konik Polski horse: A case report. Anim. Sci. Pap. Rep. 2010;28:381–388.
  157. Vaughan L, Schofield W, Ennis S. SRY-negative XX sex reversal in a pony: a case report.. Theriogenology 2001 Mar 15;55(5):1051-7.
    doi: 10.1016/S0093-691X(01)00465-4pubmed: 11322233google scholar: lookup
  158. Peretti V, Satué K, Ciotola F, Cristarella S, De Majo M, Biondi V, D'Anza E, Albarella S, Quartuccio M. An Unusual Case of Testicular Disorder in Sex Development of Arabian Mare (64,XX SRY-Negative).. Animals (Basel) 2020 Oct 25;10(11).
    doi: 10.3390/ani10111963pmc: PMC7693820pubmed: 33113813google scholar: lookup
  159. Ciotola F, Albarella S, Pasolini MP, Auletta L, Esposito L, Iannuzzi L, Peretti V. Molecular and cytogenetic studies in a case of XX SRY-negative sex reversal in an Arabian horse.. Sex Dev 2012;6(1-3):104-7.
    doi: 10.1159/000331480pubmed: 22025175google scholar: lookup
  160. Torres A, Silva JF, Bernardes N, Sales Luís J, Lopes da Costa L. 64, XX, SRY-negative, testicular DSD syndrome in a Lusitano horse.. Reprod Domest Anim 2013 Jun;48(3):e33-7.
    doi: 10.1111/rda.12094pubmed: 23057740google scholar: lookup
  161. Huber D., von Voithenberg L.V., Kaigala G.V.. Fluorescence in situ hybridization (FISH): History, limitations and what to expect from micro-scale FISH?. Micro Nano Eng. 2018;1:15–24.
    doi: 10.1016/j.mne.2018.10.006google scholar: lookup
  162. Raudsepp T, Chowdhary BP. FISH for mapping single copy genes.. Methods Mol Biol 2008;422:31-49.
    pubmed: 18629659doi: 10.1007/978-1-59745-581-7_3google scholar: lookup
  163. Rubes J, Pinton A, Bonnet-Garnier A, Fillon V, Musilova P, Michalova K, Kubickova S, Ducos A, Yerle M. Fluorescence in situ hybridization applied to domestic animal cytogenetics.. Cytogenet Genome Res 2009;126(1-2):34-48.
    doi: 10.1159/000245905pubmed: 20016155google scholar: lookup
  164. Raudsepp T, Gustafson-Seabury A, Durkin K, Wagner ML, Goh G, Seabury CM, Brinkmeyer-Langford C, Lee EJ, Agarwala R, Stallknecht-Rice E, Schäffer AA, Skow LC, Tozaki T, Yasue H, Penedo MC, Lyons LA, Khazanehdari KA, Binns MM, MacLeod JN, Distl O, Guérin G, Leeb T, Mickelson JR, Chowdhary BP. A 4,103 marker integrated physical and comparative map of the horse genome.. Cytogenet Genome Res 2008;122(1):28-36.
    doi: 10.1159/000151313pmc: PMC2587302pubmed: 18931483google scholar: lookup
  165. Leeb T, Vogl C, Zhu B, de Jong PJ, Binns MM, Chowdhary BP, Scharfe M, Jarek M, Nordsiek G, Schrader F, Blöcker H. A human-horse comparative map based on equine BAC end sequences.. Genomics 2006 Jun;87(6):772-6.
    doi: 10.1016/j.ygeno.2006.03.002pubmed: 16603334google scholar: lookup
  166. Yang F, Fu B, O'Brien PC, Nie W, Ryder OA, Ferguson-Smith MA. Refined genome-wide comparative map of the domestic horse, donkey and human based on cross-species chromosome painting: insight into the occasional fertility of mules.. Chromosome Res 2004;12(1):65-76.
    doi: 10.1023/B:CHRO.0000009298.02689.8apubmed: 14984103google scholar: lookup
  167. 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 Hung 2009 Sep;57(3):369-81.
    doi: 10.1556/avet.57.2009.3.3pubmed: 19635709google scholar: lookup
  168. Raudsepp T, Chowdhary BP. Construction of chromosome-specific paints for meta- and submetacentric autosomes and the sex chromosomes in the horse and their use to detect homologous chromosomal segments in the donkey.. Chromosome Res 1999;7(2):103-14.
    doi: 10.1023/A:1009234814635pubmed: 10328622google scholar: lookup
  169. Bugno M, Słota E, Pieńkowska-Schelling A, Schelling C. Detection of equine X chromosome mosaicism in a mare using an equine X whole chromosome painting probe (WCPP)--a case report.. Acta Vet Hung 2007 Jun;55(2):207-12.
    doi: 10.1556/avet.55.2007.2.6pubmed: 17555285google scholar: lookup
  170. Pienkowska-Schelling A., Bugno M., Owczarek-Lipska M., Schelling C., Slota E.. Probe generated by Y chromosome microdissection is useful for analysing the sex chromosomes of the domestic horse. J. Anim. Feed Sci. 2006;15:173–178.
    doi: 10.22358/jafs/66878/2006google scholar: lookup
  171. Bugno M, Słota E. Application of arm-specific painting probes of horse X chromosome for karyotype analysis in an infertile Hutsul mare with 64,XX/65,XX+Xp karyotype: case report.. Acta Vet Hung 2007 Sep;55(3):309-14.
    doi: 10.1556/AVet.55.2007.3.5pubmed: 17867458google scholar: lookup
  172. Alkan C, Cardone MF, Catacchio CR, Antonacci F, O'Brien SJ, Ryder OA, Purgato S, Zoli M, Della Valle G, Eichler EE, Ventura M. Genome-wide characterization of centromeric satellites from multiple mammalian genomes.. Genome Res 2011 Jan;21(1):137-45.
    doi: 10.1101/gr.111278.110pmc: PMC3012921pubmed: 21081712google scholar: lookup
  173. Bugno-Poniewierska M., Wnuk M., Witarski W., Slota E.. The fluorescence in situ study of highly repeated DNA sequences in domestic horse (Equus caballus) and domestic donkey (Equus asinus)—Advantages and limits of usefulness in phylogenetic analyses. J. Anim. Feed Sci. 2009;18:723–732.
    doi: 10.22358/jafs/66445/2009google scholar: lookup
  174. Wnuk M, Bugno M, Slota E. Application of primed in situ DNA synthesis (PRINS) with telomere human commercial kit in molecular cytogenetics of Equus caballus and Sus scrofa scrofa.. Folia Histochem Cytobiol 2008;46(1):85-8.
    doi: 10.2478/v10042-008-0012-9pubmed: 18296269google scholar: lookup
  175. Bugno-Poniewierska M., Zabek T., Semik E., Pawlina K., Tischner M.. A case of sex chromosome mosaicism 64,XX/65,XXY/66,XXYY in mare. Chromosome Res. 2014;22:400–401.
  176. Witarski W, Kij B, Nowak A, Bugno-Poniewierska M. Premature centromere division (PCD) identified in a hucul mare with reproductive difficulties.. Reprod Domest Anim 2020 Feb;55(2):248-251.
    doi: 10.1111/rda.13605pubmed: 31834942google scholar: lookup
  177. Wyrobek AJ, Alhborn T, Balhorn R, Stanker L, Pinkel D. Fluorescence in situ hybridization to Y chromosomes in decondensed human sperm nuclei.. Mol Reprod Dev 1990 Nov;27(3):200-8.
    doi: 10.1002/mrd.1080270304pubmed: 2078335google scholar: lookup
  178. Bugno-Poniewierska M, Jabłońska Z, Słota E. Modification of equine sperm chromatin decondensation method to use fluorescence in situ hybridization (FISH).. Folia Histochem Cytobiol 2009;47(4):663-6.
    doi: 10.2478/v10042-010-0006-2pubmed: 20430736google scholar: lookup
  179. Bugno M, Jablonska Z, Tischner M, Klukowska-Rötzler J, Pienkowska-Schelling A, Schelling C, Slota E. Detection of sex chromosome aneuploidy in equine spermatozoa using fluorescence in situ hybridization.. Reprod Domest Anim 2010 Dec;45(6):1015-9.
    doi: 10.1111/j.1439-0531.2009.01478.xpubmed: 19497022google scholar: lookup
  180. Bugno-Poniewierska M, Kozub D, Pawlina K, Tischner M Jr, Tischner M, Słota E, Wnuk M. Determination of the correlation between stallion's age and number of sex chromosome aberrations in spermatozoa.. Reprod Domest Anim 2011 Oct;46(5):787-92.
    doi: 10.1111/j.1439-0531.2010.01742.xpubmed: 21323752google scholar: lookup
  181. Bugno-Poniewierska M., Pawlina K., Tischner M., Tischner M.. Age-related effects on sex chromosome aberrations in equine spermatozoa. J. Equine Vet. Sci. 2014;34:34.
    doi: 10.1016/j.jevs.2013.10.019google scholar: lookup
  182. Kjöllerström HJ, do Mar Oom M, Chowdhary BP, Raudsepp T. Fertility Assessment in Sorraia Stallions by Sperm-Fish and Fkbp6 Genotyping.. Reprod Domest Anim 2016 Jun;51(3):351-9.
    doi: 10.1111/rda.12686pubmed: 27020485google scholar: lookup
  183. Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F, Pinkel D. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors.. Science 1992 Oct 30;258(5083):818-21.
    doi: 10.1126/science.1359641pubmed: 1359641google scholar: lookup
  184. Bugno-Poniewierska M., Staron B., Potocki L., Gurgul A., Wnuk M.. Identification of Unbalanced Aberrations in the Genome of Equine Sarcoid Cells Using Cgh Technique. Ann. Anim. Sci. 2016;16:79–85.
    doi: 10.1515/aoas-2015-0068google scholar: lookup
  185. Pinkel D, Albertson DG. Comparative genomic hybridization.. Annu Rev Genomics Hum Genet 2005;6:331-54.
    doi: 10.1146/annurev.genom.6.080604.162140pubmed: 16124865google scholar: lookup
  186. Pinkel D, Albertson DG. Array comparative genomic hybridization and its applications in cancer.. Nat Genet 2005 Jun;37 Suppl:S11-7.
    doi: 10.1038/ng1569pubmed: 15920524google scholar: lookup
  187. Bugno-Poniewierska M., Ząbek T., Gurgul A., Pawlina K.. Characteristics of chromosome rearrangements of an intersex horse using molecular cytogenetic techniques. Proceedings of the 22nd International Colloquium on Animal Cytogenetics and Genomics; Tolouse, France. 2–5 July 2016; p. 38.
  188. Schaefer RJ, Schubert M, Bailey E, Bannasch DL, Barrey E, Bar-Gal GK, Brem G, Brooks SA, Distl O, Fries R, Finno CJ, Gerber V, Haase B, Jagannathan V, Kalbfleisch T, Leeb T, Lindgren G, Lopes MS, Mach N, da Câmara Machado A, MacLeod JN, McCoy A, Metzger J, Penedo C, Polani S, Rieder S, Tammen I, Tetens J, Thaller G, Verini-Supplizi A, Wade CM, Wallner B, Orlando L, Mickelson JR, McCue ME. Developing a 670k genotyping array to tag ~2M SNPs across 24 horse breeds.. BMC Genomics 2017 Jul 27;18(1):565.
    doi: 10.1186/s12864-017-3943-8pmc: PMC5530493pubmed: 28750625google scholar: lookup
  189. Villagómez DA, Pinton A. Chromosomal abnormalities, meiotic behavior and fertility in domestic animals.. Cytogenet Genome Res 2008;120(1-2):69-80.
    pubmed: 18467827doi: 10.1159/000118742google scholar: lookup
  190. Purgato S, Belloni E, Piras FM, Zoli M, Badiale C, Cerutti F, Mazzagatti A, Perini G, Della Valle G, Nergadze SG, Sullivan KF, Raimondi E, Rocchi M, Giulotto E. Centromere sliding on a mammalian chromosome.. Chromosoma 2015 Jun;124(2):277-87.
    doi: 10.1007/s00412-014-0493-6pmc: PMC4446527pubmed: 25413176google scholar: lookup
  191. Giulotto E, Raimondi E, Sullivan KF. The Unique DNA Sequences Underlying Equine Centromeres.. Prog Mol Subcell Biol 2017;56:337-354.
    pubmed: 28840244doi: 10.1007/978-3-319-58592-5_14google scholar: lookup
  192. Al-Jaru A, Goodwin W, Skidmore J, Khazanehdari K. Distribution of MLH1 foci in horse male synaptonemal complex.. Cytogenet Genome Res 2014;142(2):87-94.
    doi: 10.1159/000357152pubmed: 24356193google scholar: lookup
  193. Al-Jaru A, Goodwin W, Skidmore J, Raudsepp T, Khazanehdari K. Male horse meiosis: metaphase I chromosome configuration and chiasmata distribution.. Cytogenet Genome Res 2014;143(4):225-31.
    doi: 10.1159/000365910pubmed: 25196893google scholar: lookup
  194. 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
  195. 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
  196. Gamo S, Tozaki T, Kakoi H, Hirota KI, Nakamura K, Nishii N, Alumunia J, Takasu M. 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 Jan 8;81(1):91-94.
    doi: 10.1292/jvms.18-0253pmc: PMC6361659pubmed: 30473577google scholar: lookup
  197. Bowling AT, Millon LV, Dileanis S. Physical mapping of genetic markers to chromosome 30 using a trisomic horse and evidence for maternal origin of the extra chromosome.. Chromosome Res 1997 Sep;5(6):429-31.
    doi: 10.1023/A:1018456727811pubmed: 9364945google scholar: lookup
  198. Raudsepp T, Chowdhary BP. The Eutherian Pseudoautosomal Region.. Cytogenet Genome Res 2015;147(2-3):81-94.
    doi: 10.1159/000443157pubmed: 26730606google scholar: lookup
  199. Chowdhary BP, Raudsepp T. The horse genome derby: racing from map to whole genome sequence.. Chromosome Res 2008;16(1):109-27.
    doi: 10.1007/s10577-008-1204-zpubmed: 18274866google scholar: lookup
  200. Blackmon H, Brandvain Y. Long-Term Fragility of Y Chromosomes Is Dominated by Short-Term Resolution of Sexual Antagonism.. Genetics 2017 Dec;207(4):1621-1629.
    doi: 10.1534/genetics.117.300382pmc: PMC5714469pubmed: 29021279google scholar: lookup
  201. Bondy CA, Cheng C. Monosomy for the X chromosome.. Chromosome Res 2009;17(5):649-58.
    doi: 10.1007/s10577-009-9052-zpubmed: 19802705google scholar: lookup
  202. Lupski JR, Stankiewicz P. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.. PLoS Genet 2005 Dec;1(6):e49.
    doi: 10.1371/journal.pgen.0010049pmc: PMC1352149pubmed: 16444292google scholar: lookup
  203. Bonomi M, Rochira V, Pasquali D, Balercia G, Jannini EA, Ferlin A. Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism.. J Endocrinol Invest 2017 Feb;40(2):123-134.
    doi: 10.1007/s40618-016-0541-6pmc: PMC5269463pubmed: 27644703google scholar: lookup
  204. Skuse D, Printzlau F, Wolstencroft J. Sex chromosome aneuploidies.. Handb Clin Neurol 2018;147:355-376.
    pubmed: 29325624doi: 10.1016/b978-0-444-63233-3.00024-5google scholar: lookup
  205. Lange J, Skaletsky H, van Daalen SK, Embry SL, Korver CM, Brown LG, Oates RD, Silber S, Repping S, Page DC. Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes.. Cell 2009 Sep 4;138(5):855-69.
    doi: 10.1016/j.cell.2009.07.042pmc: PMC3616640pubmed: 19737515google scholar: lookup
  206. Michala L, Goswami D, Creighton SM, Conway GS. Swyer syndrome: presentation and outcomes.. BJOG 2008 May;115(6):737-41.
    doi: 10.1111/j.1471-0528.2008.01703.xpubmed: 18410658google scholar: lookup
  207. Mantere T., Neveling K., Pebrel-Richard C., Benoist M., van der Zande G., Kater-Baats E., Baatout I., van Beek R., Yammine T., Oorsprong M.. Next generation cytogenetics: Genome-imaging enables comprehensive structural variant detection for 100 constitutional chromosomal aberrations in 85 samples. bioRxiv 2020.
    doi: 10.1101/2020.07.15.205245google scholar: lookup

Citations

This article has been cited 8 times.
  1. Ahern DT, Bansal P, Faustino IV, Glatt-Deeley HR, Kondaveeti Y, Banda EC, Pinter SF. Isogenic hiPSC models of Turner syndrome reveal shared roles of inactive X and Y in the human cranial neural crest network.. bioRxiv 2023 Mar 9;.
    doi: 10.1101/2023.03.08.531747pubmed: 36945647google scholar: lookup
  2. Iannuzzi A, Iannuzzi L, Parma P. Molecular Cytogenetics in Domestic Bovids: A Review.. Animals (Basel) 2023 Mar 6;13(5).
    doi: 10.3390/ani13050944pubmed: 36899801google scholar: lookup
  3. Demyda-Peyrás S, Laseca N, Anaya G, Kij-Mitka B, Molina A, Karlau A, Valera M. Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred Horses.. Animals (Basel) 2023 Feb 3;13(3).
    doi: 10.3390/ani13030539pubmed: 36766428google scholar: lookup
  4. Castaneda C, Radović L, Felkel S, Juras R, Davis BW, Cothran EG, Wallner B, Raudsepp T. Copy number variation of horse Y chromosome genes in normal equine populations and in horses with abnormal sex development and subfertility: relationship of copy number variations with Y haplogroups.. G3 (Bethesda) 2022 Dec 1;12(12).
    doi: 10.1093/g3journal/jkac278pubmed: 36227030google scholar: lookup
  5. Ghosh S, Kjöllerström J, Metcalfe L, Reed S, Juras R, Raudsepp T. The Second Case of Non-Mosaic Trisomy of Chromosome 26 with Homologous Fusion 26q;26q in the Horse.. Animals (Basel) 2022 Mar 22;12(7).
    doi: 10.3390/ani12070803pubmed: 35405793google scholar: lookup
  6. Castaneda C, Ruiz AJ, Tibary A, Raudsepp T. Molecular Cytogenetic and Y Copy Number Analysis of a Reciprocal ECAY-ECA13 Translocation in a Stallion with Complete Meiotic Arrest.. Genes (Basel) 2021 Nov 26;12(12).
    doi: 10.3390/genes12121892pubmed: 34946841google scholar: lookup
  7. Iannuzzi A, Parma P, Iannuzzi L. The Cytogenetics of the Water Buffalo: A Review.. Animals (Basel) 2021 Oct 30;11(11).
    doi: 10.3390/ani11113109pubmed: 34827841google scholar: lookup
  8. Shaffer LG, Hopp B, Switonski M, Zahand A, Ballif BC. Identification of aneuploidy in dogs screened by a SNP microarray.. Hum Genet 2021 Nov;140(11):1619-1624.
    doi: 10.1007/s00439-021-02318-8pubmed: 34287710google scholar: lookup
Subscribe to our newsletter
Join 99,344 horse owners like you who receive our email updates on horse health and nutrition.