Journal of Equine Veterinary Science
Volume 29, Issue 10 , Pages 734-738 , October 2009

64,XX, SRY-, and ZFY-Negative Icelandic Horse Likely to Be True Hermaphrodite

  • Sigridur K. Bodvarsdottir, MSc, PhD

      Affiliations

    • Cancer Research Laboratory, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegi, Reykjavik, Iceland
    • Corresponding Author InformationReprint requests: Dr. Sigridur Klara Bodvarsdottir, Cancer Research Laboratory, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegi 16, 101 Reykjavik, Iceland.
    • ,
  • Freyja Imsland, BSc

      Affiliations

    • Cancer Research Laboratory, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegi, Reykjavik, Iceland
    • ,
  • Bjorgvin Thorisson, VMD

      Affiliations

    • Drösull Veterinary Clinic, Thokkaholti, Kopavogur, Iceland
    • ,
  • Margret Steinarsdottir, MSc

      Affiliations

    • Department of Genetics and Molecular Medicine, Landspitali Hospital, Reykjavik, Iceland
    • ,
  • Jorunn E. Eyfjord, DPhil

      Affiliations

    • Cancer Research Laboratory, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegi, Reykjavik, Iceland

References 

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  2. Wallis M, Waters P, Graves J. Sex determination in mammals: before and after the evolution of SRY. Cell Mol Life Sci. 2008;65:3182–3195
  3. Rappold G. The pseudoautosomal regions of the human sex chromosomes. Hum Genet. 1993;92:315–324
  4. Raudsepp T, Santani A, Wallner B, Kata S, Ren C, Zhang H, et al. A detailed physical map of the horse Y chromosome. Proc Natl Acad Sci USA. 2004;101:9321–9326
  5. Senese C, Penedo M, Shiue Y, Bowling A, Millon L. A HaeIII PCR-RFLP in the ZFY/ZFX genes of horses. Anim Genet. 1999;30:390–391
  6. Raudsepp T, Chowdhary B. The horse pseudoautosomal region (PAR): characterization and comparison with the human, chimp and mouse PARs. Cytogenet Genome Res. 2008;121:102–109
  7. Val P, Swain A. Mechanisms of disease: normal and abnormal gonadal development and sex determination in mammals. Nat Clin Pract Urol. 2005;2:616–627
  8. Mittwoch U. The elusive action of sex-determining genes: mitochondria to the rescue?. J Theor Biol. 2004;228:359–365
  9. 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;59:1597–1603
  10. Rieder S, Taourit S, Mariat D, Langlois B, Guérin G. Mutations in the agouti (ASIP), the extension (MC1R), and the brown (TYRP1) loci and their association to coat color phenotypes in horses (Equus caballus). Mamm Genome. 2001;12:450–455
  11. Buoen L, Zhang T, Weber A, Ruth G. SRY-negative, XX intersex horses: the need for pedigree studies to examine the mode of inheritance of the condition. Equine Vet J. 2000;32:78–81
  12. Meyers-Wallen V, Hurtgen J, Schlafer D, Tulleners E, Cleland W, Ruth G, et al. Sry-negative XX true hermaphroditism in a Pasa Fino horse. Equine Vet J. 1997;29:404–408
  13. Bannasch D, Rinaldo C, Millon L, Latson K, Spangler T, Hubberty S, et al. SRY negative 64, XX intersex phenotype in an American saddlebred horse. Vet J. 2007;173:437–439
  14. Vaughan L, Schofield W, Ennis S. SRY-negative XX sex reversal in a pony: a case report. Theriogenology. 2001;55:1051–1057
  15. Pailhoux E, Cribiu E, Parma P, Cotinot C. Molecular analysis of an XY mare with gonadal dysgenesis. Hereditas. 1995;122:109–112
  16. Abe S, Miyake Y, Kageyama S, 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;31:336–338
  17. Mäkinen A, Suojala L, Niini T, Katila T, Tozaki T, Miyake Y, et al. X chromosome detection in an XO mare using a human X paint probe, and PCR detection of SRY and amelogenin genes in 3 XY mares. Equine Vet J. 2001;33:527–530
  18. 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;122(Suppl 1):60–63
  19. Milliken J, Paccamonti D, Shoemaker S, Green W. XX male pseudohermaphroditism in a horse. J Am Vet Med Assoc. 1995;207:77–79
  20. Mittwoch U. Genetics of sex determination: exceptions that prove the rule. Mol Genet Metab. 2000;71:405–410
  21. Vaiman D, Pailhoux E. Mammalian sex reversal and intersexuality: deciphering the sex-determination cascade. Trends Genet. 2000;16:488–494
  22. Pailhoux E, Vigier B, Schibler L, Cribiu E, Cotinot C, Vaiman D. Positional cloning of the PIS mutation in goats and its impact on understanding mammalian sex-differentiation. Genet Sel Evol. 2005;37(Suppl 1):S55–S64
  23. Boulanger L, Kocer A, Daniel N, Pannetier M, Chesné P, Heyman Y, et al. Attempt to rescue sex-reversal by transgenic expression of the PISRT1 gene in XX PIS-/- goats. Sex Dev. 2008;2:142–151

 Freyja Imsland is currently at the Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.

PII: S0737-0806(09)00607-8

doi: 10.1016/j.jevs.2009.08.007

Journal of Equine Veterinary Science
Volume 29, Issue 10 , Pages 734-738 , October 2009

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