Equine disorders of sexual development in 17 mares including XX, SRY-negative, XY, SRY-negative and XY, SRY-positive genotypes

Sexual Development

Volumn 5, Issue 1, 2011, Pages 16-25

  Villagomez D A F ^a,d   Lear, T L ^b   Chenier, T ^a   Lee, S ^a   McGee, R B ^b   Cahill, J ^c   Foster, R A ^a   Reyes, E ^a   St John, E ^a   King, W A ^a  

^a UNIVERSITY OF GUELPH   (Canada)

^b UNIVERSITY OF KENTUCKY   (United States)

^c MASSEY UNIVERSITY   (New Zealand)

^d UNIVERSITY OF GUADALAJARA   (Mexico)

Author keywords

FISH; Horse; PCR; Sex chromosomes; Sexual development disorders; SRY gene

Indexed keywords

EQUIDAE;

ANIMAL; ANIMAL DISEASE; ARTICLE; CASE REPORT; CHROMOSOME BANDING PATTERN; CONGENITAL MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENDER AND SEX; GENE DELETION; GENETICS; GENITAL SYSTEM; HORSE; HORSE DISEASE; MALE; PATHOLOGY; PHENOTYPE; SEX DIFFERENTIATION; SEX DIFFERENTIATION DISORDER; SRY GENE;

ANIMALS; CHROMOSOME BANDING; DISORDERS OF SEX DEVELOPMENT; FEMALE; GENE DELETION; GENES, SRY; GENITALIA; HORSE DISEASES; HORSES; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PHENOTYPE; SEX DETERMINATION PROCESSES; SEX DIFFERENTIATION;

EID: 79551523334     PISSN: 16615425     EISSN: 16615433     Source Type: Journal    
DOI: 10.1159/000322811     Document Type: Article

References (62)

1. Abe S, Miyake Y-I, Kageyama S-I, Watanabe G, Taya K, et al: 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 31:336-338 (1999).
2. Bannasch D, Rinaldo C, Millon L, Latson K, Spangler T, et al: SRY negative 64, XX intersex phenotype in an American saddlebred horse. Vet J 173:437-439 (2007).
3. Baron D, Batista F, Chafaux S, Cocquet J, Cotinot C, et al: Foxl2 gene and the development of the ovary: a story about goat, mouse, fish and woman. Reprod Nutr Dev 45:377-382 (2005).
4. Barrionuevo F, Bagheri-Fam S, Kattig J, Kist R, Taketo MM, et al: Homozygous inactivation of Sox9 causes complete XY sex reversal in mice. Biol Reprod 74:195-201 (2006).
5. Blecher SR, Erickson RP: Genetics of sexual development: A new paradigm. Am J Med Genet 143 A: 3054-3068 (2007).
6. Bugno M, Klukowska J, Slota E, Tischner M, Switonski M: A sporadic case of the sex-reversed mare (64, XY; SRY-negative): molecular and cytogenetic studies of the Y chromosome. Theriogenology 59:1597-1603 (2003).
7. Buoen LC, Zhang TQ, Weber AF, Ruth GR: SRY - negative, XX intersex horses: the need for pedigree studies to examine the model of inheritance of the condition. Equine Vet J 32:78-81 (2000).
8. Chandley AC, Fletcher J, Rossdale PD, Peace CK, Ricketts SW, et al: Chromosome abnormalities as a cause of infertility in mares. J Reprod Fertil Suppl 23:377-383 (1975).
9. Chowdhary BP, Paria N, Raudsepp T: Potential applications of equine genomics in dissecting diseases and fertility. Animal Reprod Sci 107:208-218 (2008).
10. Constant SB, Larsen RE, Asbury AC, Buoen LC, Mayo M: XX male syndrome in a cryptorchid stallion. J Am Vet Med Assoc 205:83-85 (1994).
11. Crabbe BG, Freeman DA, Grant BD, Kennedy P, Whitlatch L, et al: Testicular feminization syndrome in a mare. J Am Vet Med Assoc 200:1689-1691 (1992).
12. de la Chapelle A: The Y-chromosomal and autosomal testis-determining genes. Development 101 Suppl: 33-38 (1987).
13. Gottlieb B, Beitel LK, Wu J, Elhaji YA, Trifiro M: Nuclear receptors and disease: androgen receptor. Essays Biochem 40:121-136 (2004).
14. Gottlieb B, Lombroso R, Beitel LK, Trifiro MA: Molecular pathology of the androgen receptor in male (in) fertility. Reprod Biomed Online 10:42-48 (2005).
15. Harley VR, Clarkson MJ, Argentaro A: The molecular action and regulation of the testisdetermining factors, SRY (sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility Group (HMG) box 9]. Endocr Rev 24:466-487 (2003).
16. Hasegawa T, Ishida M, Harigaya T, Sato F, Ishida N, Mukoyama H: Linear SRY transcript in equine testis. J Vet Med Sci 61:97-100 (1999).
17. Hirota K, Piumi F, Sato F, Ishida N, Guérin G: Fish assignment of two equine BAC clones containing SRY and ZFY. Animal Genet 32:326-327.
18. Howden KJ: Androgen insensitivity syndrome in a Thoroughbred mare (64, XY-testicular feminization). Can Vet J 45:501-503 (2004).
19. Hughes IA: Minireview: Sex differentiation. Endocrinology 142:3281-3287 (2001).
20. Hughes IA: Disorders of sex development: a new definition and classification. Best Pract Res Clin Endocrinol Metab 22:119-134 (2008).
21. Hughes IA, Lim HN, Martin H, Mongan NP, Dovey L, et al: Development aspects of androgen action. Mol Cell Endocrinol 185:33-41 (2001).
22. Iannuzzi L, Di Berardino D: Tool of the trade: diagnostic and research in domestic ani - mal cytogenetics. J Appl Genet 49:357-366 (2008).
23. Iannuzzi L, Di Meo GP, Perucatti A, Spadetta M, Incarnato D, et al: Clinical, cytogenetic and molecular studies on sterile stallion and mare affected by XXY and sex reversal syndromes, respectively. Caryologia 57:400-404 (2004).
24. ISCNH: International system for cytogenetic nomenclature of the domestic horse, Bowling AT, Breen M, Chowdhary BP, Hirota K, Lear T, Millon LV, Ponce de Leon FA, Raudsepp T and Stranzinger G (Committee). Chromosome Res 5:433-443 (1997).
25. Kent MG, Shoffner RN, Buoen L, Weber AF: XY sex-reversal syndrome in the domestic horse. Cytogenet Cell Genet 42:8-18 (1986).
26. Kent MG, Shoffner RN, Hunter A, Elliston KO, Schroder W, et al: XY sex reversal syndrome in the mare: clinical and behavioral studies, H-Y phenotype. Hum Genet 79:321-328 (1988).
27. Kieffer NM: Male pseudohermaphroditism of the testicular feminizing type in a horse. Equine Vet J 8:38-41 (1976).
28. Kim Y, Kobayashi A, Sekido R, DiNapoli L, Brennan J, et al: Fgf9 and Wnt4 act as antagonistic signals to regulate mammalian sex determination. PloS Biol 4: e187 (2006).
29. Kojima Y, Hayashi Y, Mizuno K, Sasaki S, Fukuit Y, et al: Up-regulation of SOX9 in human sex-determining region on the Y chromosome (SRY)-negative XX males. Clin Endocrinol 68:791-799 (2008).
30. Kothapalli KSD, Kirkness EF, Pujar S, Van-Wormer R, Meyers-Wallen VN: Exclusion of candidate genes for canine SRY-negative XX sex reversal. J Hered 96:759-763 (2005).
31. Kothapalli KSD, Kirkness EF, VanWormer R, Meyers-Wallen: Exclusion of DMRT1 as a candidate gene for canine SRY-negative XX sex reversal. Vet J 171:559-561 (2006).
32. Kuiper H, Distl O: Intersexualität beim Pferd. Dtsch tierärztl Wschr 114:50-56 (2007).
33. 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 120:117-112 (2008).
34. Lee PA, Houk CP, Ahmed SF, Hughes IA: Consensus Statement on Management of Intersex Disorders. Pediatrics 118: e488-e500 (2006).
35. Long SE: Chromosome anomalies and infertility in the mare. Equine Vet J 20:89-93 (1988).
36. Maatouk DM, DiNapoli L, Alvers A, Parker KL, Takedo MM, et al: Stabilization of betacatenin in XY gonads causes male-to-female sex reversal. Hum Mol Genet 17:2949-2955 (2008).
37. Mäkinen A, Hasegawa T, Mäkila M, Katila T: Infertility in two mares with XY and XXX sex chromosomes. Equine Vet J 31:346-349 (1999).
38. Mäkinen A, Suojala L, Niini T, Katila T, Tozaki T, 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 33:527-530 (2001).
39. Mangold TA, Meisner LF: Fool-proof C-banding. Karyogram 14:16-17 (1998).
40. Meyers-Wallen VN: Genetics, genomics and molecular biology of sex determination in small animals. Theriogenology 66:1655-1658 (2006).
41. Meyers-Wallen VN, Hurtgen J, Schlafer D, Tulleners E, Cleland WR, et al: Sry-negative XX true hermaphroditism in a Pasa Fino horse. Equine Vet J 29:404-408 (1997).
42. Meyers-Wallen VN, Schlafer D, Barr I, Lowell-Badge R, Keyzner A: SRY-negative sex reversal in purebred dogs. Mol Reprod Dev 53:266-273 (1999).
43. Milenkovic D, Oustry-Vaiiman A, Lear TL, Billault A, Mariat D: Cytogenetic localization of 136 genes in the horse: comparative mapping with the human genome. Mammalian Genome 13:524-534 (2002).
44. Milliken JE, Paccamonti DL, Shoemaker S, Green WH: XX male pseudohermaphroditism in a horse. J Am Vet Med Assoc 207:77-79 (1995).
45. Mittwoch U: Sex reversal in the horse: 2 sides of a common coin. Equine Vet J 29:333-334 (1997).
46. Pailhoux E, Cribiu EP, Parma P, Cotinot C: Molecular analysis of an XY mare with gonadal dysgenesis. Hereditas 122:109-112 (1995).
47. Pailhoux E, Vigier B, Chaffaux S, Servel N, Taourit S, et al: A 11.7-kb deletion triggers intersexuality and polledness in goats. Nat Genet 29:453-458 (2001).
48. Pailhoux E, Vigier B, Vaiman D, Servel N, Chaffaux S, et al: Ontogenesis of female-to-male sex-reversal in XX polled goats. Dev Dyn 224:39-50 (2002).
49. Parma P, Radi O, Vidal V, Chaboissier MC, Dellambra E, et al: R-spondin is essential in sex determination, skin differentiation and malignancy. Nat Genet 38:1304-1309 (2006).
50. Power MM: XY sex reversal in a mare. Equine Vet J 18:233-236 (1986).
51. Qin Y, Bishop CE: Sox9 is sufficient for functional testis development producing fertile male mice in the absence of Sry. Hum Mol Genet 14:1221-1229 (2005).
52. Seabright M: A rapid banding technique for human chromosomes. Lancet 2:971-972 (1971).
53. Raudsepp T, Durkin K, Lear TL, Das PJ, Avila F, et al: Molecular heterogeneity of XY sex reversal in horses. Animal Genet (in press).
54. Raudsepp T, Santani A, Wallner B, Kata SR, Ren C, et al: A detailed physical map of the horse Y chromosome. Proc Natl Acad Sci 101:9321-9326 (2004).
55. Sekido R, Lovell-Badge R: Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer. Nature 453:930-934 (2008).
56. Sim H, Argentaro A, Harley VR: Boys, girls and shuttling of SRY and SOX9. Trends Endocrinol Metab 19:213-222 (2008).
57. Smith CA, Shoemaker CM, Roeszler KN, Queen J, Crews D, et al: Cloning and expression of R-Spondin1 in different vertebrates suggests a conserved role in ovarian development. BMC Dev Biol 8:72 (2008).
58. Switonski M, Chmurzynska A, Szczerbal I, Lipczynski A, Yang F, et al: Sex reversal syndrome (64, XY; SRY-positive) in a mare demonstrating masculine behaviour. J Anim Breed Genet 122 (suppl 1):60-63 (2005).
59. Temel SG, Gulten T, Yakut T, Saglam H, Kilic N, et al: Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus. Sex Dev 1:24-34 (2007).
60. Vaughan L, Scholield W, Ennis S: SRY-negative XX sex reversal in a pony: a case report. Theriogenology 55:1051-1057 (2001).
61. Villagómez DAF, Parma P, Radi O, Di Meo G, Pinton A, et al: Classical and molecular cytogenetics of disorders of sex development in domestic animals. Cytogenet Genome Res 126:110-131 (2009).
62. Wilhelm D, Palmer S, Koopman P: Sex determination and gonadal development in mammals. Physiol Rev 87:1-28 (2007).