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Vol. 126, No. 1-2, 2009
Issue release date: December 2009

Classical and Molecular Cytogenetics of Disorders of Sex Development in Domestic Animals

Villagómez D.A.F. · Parma P. · Radi O. · Di Meo G. · Pinton A. · Iannuzzi L. · King W.A.
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The association of abnormal chromosome constitutions and disorders of sex development in domestic animals has been recorded since the beginnings of conventional cytogenetic analysis. Deviated karyotypes consisting of abnormal sex chromosome sets (e.g. aneuploidy) and/or the coexistence of cells with different sex chromosome constitutions (e.g. mosaicism or chimerism) in an individual seem to be the main causes of anomalies of sex determination and sex differentiation. Molecular cytogenetics and genetics have increased our understanding of these pathologies, where human and mouse models have provided a substantial amount of knowledge, leading to the discovery of a number of genes implicated in mammalian sex determination and differentiation. Additionally, other genes, which appeared to be involved in ovary differentiation, have been found by investigations in domestic species such as the goat. In this paper, we present an overview of the biology of mammalian sex development as a scientific background for better understanding the body of knowledge of the clinical cytogenetics of disorders of sex development in domestic animals. An attempt to summarize of what has been described in that particular subject of veterinary medicine for each of the main mammalian domestic species is presented here.

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  1. Abbas NE, Toublanc JE, Boucekkine C, Toublanc M, Affara NA, et al: A possible common origin of ‘Y-negative’ human XX males and XX true hermaphrodites. Hum Genet 84:356–360 (1990).
  2. Abe S, Miyake YI, Kageyama SI, 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).
  3. Acar H, Cora T, Erkul I: Coexistence of inverted Y, chromosome 15p+ and abnormal phenotype. Anim Reprod Sci 91:45–54 (2006).
  4. Bäckström L, Henricson B: Intersexuality in the pig. Acta Vet Scand 12:257–273 (1971).

    External Resources

  5. Balakrishnan CR, Yadav BR, Sarma PA, Goswami SL: Sex chromosome chimaerism in heterosexual Murrah buffalo triplets. Vet Rec 109:162 (1981).
  6. 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).
  7. Basrur PK, Kanagawa H: Sex anomalies in pigs. J Reprod Fertil 26:369–371 (1971).
  8. Basrur PK, McKinnon AO: Caprine intersexes and freemartins; in Morrow DA (ed): Current Therapy in Theriogenology, pp 596–600 (WB Saunders Co., Philadelphia 1986).
  9. Basrur PK, Kanagawa H, Gilman JP: An equine intersex with unilateral gonadal agenesis. Can J Comp Med 33:297–306 (1969).
  10. Basrur PK, Koykul W, Baguma-Nibasheka M, King WA, Ambady S, et al: Synaptic pattern of sex complements and sperm head malformation in X-autosome translocation carrier bulls. Mol Reprod Dev 59:67–77 (2001).
  11. Beverdam A, Koopman P: Expression profiling of purified mouse gonadal somatic cells during the critical time window of sex determination reveals novel candidate genes for human sexual dysgenesis syndromes. Hum Mol Genet 15:417–431 (2006).
  12. Biason-Lauber A, Konrad D, Meyer M, Debeaufort C, Schoenle EJ: Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. Am J Hum Genet 84:658–663 (2009).
  13. Blue MG, Bruere AN, Dewes HF: The significance of the XO syndrome in infertility of the mare. N Z Vet J 26:137–141 (1978).
  14. BonDurant RH, McDonald MC, Trommershausen-Bowling A: Probable freemartinism in a goat. J Am Vet Med Assoc 177:1024–1025 (1980).
  15. Bongso TA, Jainudeen MR, Lee JY: Testicular hypoplasia in a bull with XX/XY chimerism. Cornell Vet 71:376–382 (1981).
  16. Bongso TA, Thavalingam M, Mukherjee TK: Intersexuality associated with XX/XY mosaicism in a horned goat. Cytogenet Cell Genet 34:315–319 (1982).
  17. Bongso TA, Robinson ES, Fatimah I, Abeynayake P: Foetal membrane fusion and its developmental consequences in goat twins. Br Vet J 142:59–64 (1986).
  18. Bosu WT, Basrur PK: Morphological and hormonal features of an ovine and a caprine intersex. Can J Comp Med 48:402–409 (1984).
  19. Bouma GJ, Albrecht KH, Washburn LL, Recknagel AK, Churchill GA, et al: Gonadal sex reversal in mutant Dax1 XY mice: a failure to upregulate Sox9 in pre-Sertoli cells. Development 132:3045–3054 (2005).
  20. Bouters R, Vandeplassche M, de Moor A: An intersex (male pseudohermaphrodite) horse with 64XX/XXY mosaicism. J Reprod Suppl 23:375–376 (1975).
  21. Bowling AT, Millon L, Hughes JP: An update of chromosomal abnormalities in mares. J Reprod Fert Suppl 35:149–155 (1987).
  22. Brace MD, Peters O, Menzies P, King WA, Nino-Soto MI: Sex chromosome chimerism and the freemartin syndrome in Rideau Arcott sheep. Cytogenet Genome Res 12:132–139 (2008).

    External Resources

  23. Breen M, Langford F, Carter NP, Fischer PE, Marti E, et al: Detection of equine chromosome abnormalities in equids using a horse X whole chromosome paint probe (WCCPP). Vet J 153:235–238 (1997).
  24. Breeuwsma AJ: A case of XXY sex chromosome constitution in an intersex pig. J Reprod Fertil 16:119–120 (1968).
  25. Breeuwsma AJ: Intersexuality in pigs. Netherlands J Vet Sci 94:493–504 (1969).
  26. Bruere AN, Fielden ED, Hutchings H: XX-XY mosaicism in lymphocyte cultures from a pig with freemartin characteristics. N Z Vet J 16:31–38 (1968).
  27. Bruere AN, Marshall RB, Ward DP: Testicular hypoplasia and XXY sex chromosome complement in two rams: the ovine counterpart of Klinefelter’s syndrome in man. J Reprod Fertil 19:103–108 (1969).
  28. Bugno M, Slota E: Application of the arm-specific painting probes of horse X chromosomes for karyotype analysis in an infertile Hutsul mare with 64,XX/65,XX + Xp karyotype: case report. Acta Veterinaria Hungarica 55:309–314 (2007).
  29. 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 35:209–210 (2003a).
  30. 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 (2003b).
  31. Bugno M, Slota E, Koscielny M: Karyotype evaluation among young horse populations in Poland. Schweiz Arch Tierheilk (5):227–232 (2007).
  32. Bugno M, Zabek T, Golonka P, Pienkowska-Schelling A, Schelling C, et al: A case of an intersex horse with 63,X/64,XX/65,XX,del(Y)(q?) karyotype. Cytogenet Genome Res 120:123–126 (2008).
  33. Bullejos M, Koopman P: Spatially dynamic expression of Sry in mouse genital ridge. Dev Dyn 221:201–205 (2001).
  34. Bullejos M, Koopman P: Delayed Sry and Sox9 expression in developing mouse gonads underlies B6-Y(DOM) sex reversal. Dev Biol 278:473–481 (2005).
  35. Buoen LC, Seguin BE, Weber AF, Shoffner RN: X-trisomy karyotype and associated infertility in a Holstein heifer. J Am Vet Med Assoc 179:808–811 (1981).
  36. Buoen LC, Zhang TQ, Ruth GR, Weber AF, Kittleson SL: Sterility associated with an XO karyotype in a miniature horse mare. Equine Vet J 25:164–165 (1993).
  37. 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).
  38. Cabianca G, Rota A, Cozzi B, Ballarin C: Expression of AMH in female fetal intersex gonads in the bovine. Anat Histol Embryol 36:24–26 (2007).
  39. Cassata R, Iannuzzi A, Parma P, De Lorenzi L, Peretti V: Clinical, cytogenetic and molecular evaluation in a dog with bilateral cryptorchidism and hypospadias. Cytogenet Genome Res 120:140–143 (2008).
  40. Chaboissier MC, Kobayashi A, Vidal VI, Lützkendorf S, van de Kant HJ, et al: Functional analysis of Sox8 and Sox9 during sex determination in the mouse. Development 131:1891–1901 (2004).
  41. Chandley AC, Fletcher J, Rossdale PD, Peace CK, Ricketts SW, et al: Chromosome abnormalities as a cause of infertility in mares. J Reprod Fert Suppl 23:377–383 (1975).
  42. Chapman HM, Bruere AN, Jaine PM: XY gonadal dysgenesis in a Charolais heifer. Anim Reprod Sci 1:9–18 (1978).

    External Resources

  43. Charlier C, Coppieters W, Rollin F, Desmecht D, Agerholm J S, et al: Highly effective SNP-based association mapping and management of recessive defects in livestock. Nat Genet 40:449–454 (2008).
  44. Chassot AA, Ranc F, Gregoire EP, Roepers-Gajadien HL, Taketo MM, et al: Activation of beta-catenin signaling by Rspo1 controls differentiation of the mammalian ovary. Hum Mol Genet 17:1264–1277 (2008).
  45. Chowdhary BP, Paria N, Raudsepp T: Potential applications of equine genomics in dissecting diseases and fertility. Anim Reprod Sci 107:208–218 (2008).
  46. Cinzia S, Iannuzzi L, Pogu G, Bonelli P, Bogliolo L, et al: Clinical and cytogenetic studies in intersex ewes. Caryologia 59:67–74 (2006).
  47. Clarkson BG, Fisher KR, Partlow GD: Agonadal presumptive XX/XY leukochimeric pig. Anat Rec 242:195–199 (1995).
  48. Clough E, Pyle RL, Hare WC, Kelly DF, Patterson DF: An XXY sex-chromosome constitution in a dog with testicular hypoplasia and congenital heart disease. Cytogenetics 9:71–77 (1970).
  49. 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).
  50. Cool J, Capel B: Mixed signals: development of the testis. Semin Reprod Med 27:5–13 (2009).
  51. Cool J, Carmona FD, Szucsik JC, Capel B: Peritubular myoid cells are not the migrating population required for testis cord formation in XY gonad. Sex Dev 2:128–133 (2008).
  52. Coutant R, Mallet D, Lahlou N, Bouhours-Nouet N, Guichet A, et al: Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome. J Clin Endocrinol Metab 92:2868–2873 (2007).
  53. Coveney D, Cool J, Oliver T, Capel C: Four-dimensional analysis of vascularization during primary development of an organ, the gonad. Proc Natl Acad Sci USA 105:7212–7217 (2008).
  54. Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, et al: The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet 27:159–166 (2001).
  55. Dain AR, Bridge PS: A chimaeric calf with XX/XY mosaicism and intersexuality. J Reprod Fert 54:197–201 (1978).
  56. Daneau I, Houde A, Ethier JF, Lussier JG, Silversides DW: Bovine SRY gene locus: cloning and testicular expression. Biol Reprod 52:591–599 (1995).
  57. de la Chapelle A: The Y-chromosomal and autosomal testis-determining genes. Development 101 Suppl:33–38 (1987).
  58. de la Chapelle A, Hastbacka J, Korhonen T, Maennaa J: The etiology of XX sex reversal. Reprod Nutr Dev S1:39–49 (1990).
  59. Diaz-Castaños LR, Rivera H, Gonzalez-Montes RM, Diaz M: Translocation (Y;19)(q12;q13) and azoospermia. Ann Genet 34:27–29 (1991).

    External Resources

  60. Díaz-Hernández V, León del Río A, Zamora M, Merchant-Larios H: Expression profiles of SRY and SOX9 in rabbit gonads: the classical model of mammalian sex differentiation. Sex Dev 2:152–166 (2008).
  61. Di Meo GP, Perucatti A, Florito S, Incarnato D, Rullo R, et al: Chromosome evolution and improved cytogenetic maps of the Y chromosome in cattle, zebu, river buffalo, sheep and goat. Chromosome Res 13:349–355 (2005).
  62. Di Meo GP, Perucatti A, Di Palo R, Iannuzzi L, Ciotola F, et al: Sex chromosome abnormalities and sterility in river buffalo. Cytogenet Genome Res 120:127–131 (2008).
  63. Diribarne M, Vaiman A, Pechayre M, Pailhoux E, Mata X, et al: Polymorphism analysis of microsatellites associated with seven candidate genes for equine cryptorchidism. J Eq Vet Sci 29:37–41 (2009).

    External Resources

  64. Ducos A, Revay T, Kovacs A, Hidas A, Pinton A, et al: Cytogenetic screening of livestock populations in Europe; an overview. Cytogenet Genome Res 120:26–41 (2008).
  65. Dunn HO, McEntee CE, Hall CE, Johnson RH, Stone WH: Cytogenetic and reproductive studies of bulls born co-twin with freemartins. J Reprod Fert 57:21–30 (1979).
  66. Dunn HO, Smiley D, Duncan JR, McEntee K: Two equine true hermaphrodites with 64,XX/64,XY and 63,XO/64,XY chimerism. Cornell Vet 71:123–135 (1981).
  67. Fehilly CB, Willadsen SM, Tucker EM: Experimental chimaerism in sheep. J Reprod Fertil 70:347–351 (1984).
  68. Gallagher DS, Basrur PK, Womack JE: Identification of an autosome to X chromosome translocation in the domestic cow. J Hered 83:451–453 (1992).
  69. Gasca S, Canizares J, De Santa Barbara P, Mejean C, Poulat F, et al: A nuclear export signal within the high mobility group domain regulates the nucleocytoplasmic translocation of SOX9 during sexual determination. Proc Natl Acad Sci USA 99:11199–11204 (2002).
  70. Giger U, Meyers-Wellen VN, Patterson DF: A 6-month-old Doberman pinscher with ambiguous genitalia as a first case of X-chromosomal monosomy in the dog. J Vet Intern Med 3:245 (1989).
  71. Gill JJB, Kempski HM: A 64XX/65,XXX mosaic mare (Equus caballus) and associated infertility. Equine Vet J 20:128–130 (1988).
  72. Gottlieb B, Beitel LK, Wu J, Elhaji YA, Trifiro M: Nuclear receptors and disease: androgen receptor. Essays Biochem 40:121–136 (2004).
  73. Greene WA, Dunn HO, Foote RH: Sex-chromosome ratios in cattle and their relationship to reproductive development in freemartins. Cytogenet Cell Genet 18:97–105 (1977).
  74. Gustavsson I: Chromosome aberrations and their influence on the reproductive performance of domestic animals – a review. Z Tierzüchtg Züchtgsbiol 97:176–195 (1980).
  75. Gustavsson I: Chromosomes of the pig; in Inc AP (ed): Domestic Animals Cytogenetics, Advances in Veterinary Science and Comparative Medicine, pp 73–107 (Mc Feely, San Diego 1990).
  76. Gustavsson I, Switonski M, Iannuzzi L, Ploen L, Larsson K: Banding studies and synaptonemal complex analysis of an X-autosome translocation in the domestic pig. Cytogenet Cell Genet 50:188–194 (1989).
  77. Halnan CRE: Equine cytogenetics: role in equine veterinary practice. Equine Vet J 17:173–177 (1985).
  78. Hancock JL, Daker MG: Testicular hypoplasia in a boar with abnormal sex chromosome constitution (39 XXY). J Reprod Fertil 61:395–397 (1981).
  79. Hare JE, Baird JD, Duignan P, Saunders J, Floetenmeyer R, et al: XY gonadal dysgenesis and tetralogy of Fallot in an Angus calf. Can Vet J 35:510–512 (1994).
  80. Harley VR, Clarkson MJ, Argentaro A: The molecular action and regulation of the testis- determining factors, SRY (Sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility Group (HMG) box 9]. Endocrine Rev 24:466–487 (2003).
  81. Henricson B, Akesson A: Two heifers with gonadal dysgenesis and the sex chromosomal constitution XY. Acta Vet Scand 8:262–272 (1967).
  82. Herzog A, Hohn H, Rieck GW: Survey of recent situation of chromosome pathology in different breeds of German cattle. Ann Genet Sel Anim 9:471–491 (1977).
  83. Hiramatsu R, Matoba S, Kanai-Azuma M, Tsunekawa N, Katoh-Fukui Y, et al: A critical time window of Sry action in gonadal sex determination in mice. Development 136:129–138 (2009).
  84. Huang B, Wang S, Ning Y, Lamb AN, Bartley J: Autosomal XX sex reversal caused by duplication of SOX9. Am J Med Genet 87:349–353 (1999).
  85. Hughes JP, Benirschke K, Kennedy PC, Trommershausen-Smith A: Gonadal dysgenesis in the mare. J Reprod Fert Suppl 23:385–390 (1975).
  86. Hunter RHF, Greve T: Intersexuality in pigs: Clinical, physiological and practical considerations. Acta Vet Scand 37:1–12 (1996).
  87. Hunter RH, Baker TG, Cook B: Morphology, histology and steroid hormones of the gonads in intersex pigs. J Reprod Fertil 64:217–222 (1982).
  88. Hunter RH, Cook B, Baker TG: Intersexuality in five pigs, with particular reference to estrous cycles, the ovotestis, steroid hormone secretion and potential fertility. J Endocrinol 106:233–242 (1985).
  89. Iannuzzi L, Di Meo GP, Perucatti A, Zicarelli L: A case of sex chromosome monosomy (2n = 49,X0) in the river buffalo (Bubalus bubalis). Vet Rec 147:690–691 (2000).
  90. Iannuzzi L, Di Meo GP, Perucatti A, Di Palo R, Zicarelli L: 50,XY gonadal dysgenesis (Swier’s syndrome) in a female river buffalo (Bubalus bubalus). Vet Rec 148:634–635 (2001a).
  91. Iannuzzi L, Di Meo GP, Perucatti A, Eggen A, Incarnato D, et al: A pericentric inversion in cattle Y-chromosome. Cytogenet Cell Genet 94:202–205 (2001b).
  92. Iannuzzi L, Molteni L, Di Meo GP, De Giovanni A, Perucatti A, et al: A case of azoospermia in a cattle bull carrying a Y-autosome reciprocal translocation. Cytogenet Cell Genet 95:225–227 (2001c).
  93. Iannuzzi L, Di Meo GP, Perucatti A, Incarnato D, Di Palo R, et al: Reproductive disturbances and sex chromosome abnormalities in two female river buffaloes. Vet Rec 154:823–824 (2004).
  94. Iannuzzi L, Di Meo GP, Perucatti A, Ciotola F, Incarnato D, et al: Freemartinism in river buffalo: clinical and cytogenetic observations. Cytogenet Genome Res 108:335–358 (2005).

    External Resources

  95. Ilbery PLT, Williams D: Evidence of the freemartin condition in goats. Cytogenetics 6:276 (1967).
  96. Imbeaud S, Belville C, Messika-Zeitoun L, Rey R, di Clemente N: et al: A 27 base-pair deletion of the anti-Müllerian type II receptor gene is the most common cause of the persistent Müllerian duct syndrome. Hum Mol Genet 5:1269–1277 (1996).
  97. Jeays-Ward K, Hoyle C, Brennan J, Dandonneau M, Alldus G, et al: Endothelial and steroidogenic cell migration are regulated by WNT4 in the developing mammalian gonad. Development 130:3663–3670 (2003).
  98. Johnston SD, Buoen LC, Weber AF, Madl JE: X trisomy in a Airedale bitch with ovarian dysplasia and primary anaestrus. Theriogenology 24:597–607 (1985).
  99. Johnston SD, Buoen LC, Weber AF, Lin TL: Triploidy (117,XXX) in a stillborn canine pup conceived with frozen semen. J Am Vet Med Assoc 194:1446–1448 (1989).
  100. Jost A: Investigation of hormonal control of genesis of the sex organs in rabbit and notes on certain malformations of the genital apparatus in man. Ginecol Obstet Mex 7:477–492 (1952).
  101. 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 37:143–147 (2005).
  102. Kawakura K, Miyake YI, Murakami RK, Kondoh S, Hirata TI, et al: Deletion of the SRY region on the Y chromosome detected in bovine gonadal hypoplasia (XY female) by PCR. Cytogenet Cell Genet 72:183–184 (1996).
  103. Kawakura K, Miyake YI, Murakami RK, Kondoh S, Hirata T-I, et al: Abnormal structure of the Y chromosome detected in bovine gonadal hypoplasia (XY female) by FISH. Cytogenet Cell Genet 76:36–38 (1997).
  104. Kent MG, Shoffner RN, Buoen L, Weber AF: XY sex-reversal syndrome in the domestic horse. Cytogenet Cell Genet 42:8–18 (1986).
  105. Keszka J, Jaszczak K: The frequency of chromosomal XX/XY chimerism occurrence in Merino Booroola sheep. J Appl Genet 37:367–372 (1996).
  106. 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 118:135–140 (2001).
  107. Kidokoro T, Matoba S, Hiramatsu R, Fujisawa M, Kanai-Azuma M, et al: Influence on spatiotemporal patterns of a male-specific Sox9 activation by ectopic Sry expression during early phases of testis differentiation in mice. Dev Biol 278:511–525 (2005).
  108. Kiefer NM, Sorensen AM: Some cytogenetics aspects of intersexuality in the bovine. J Anim Sci 32:1219–1228 (1971).

    External Resources

  109. 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).
  110. Klunder LR, McFeely RA, Willard JP: Six separate sex chromosome anomalies in an Arabian mare. Equine Vet J 22:218–220 (1990).
  111. 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).
  112. Komisarek J, Dorynek Z: Genetic aspects of twinning in cattle. J Appl Genet 43:55–68 (2002).

    External Resources

  113. Kondoh S, Miyake Y, Nakahori Y, Nakagome Y, Kaneda Y: Cytogenetical and molecular biological studies on a bovine XY female. J Vet Med Sci 54:1077–1080 (1992).
  114. Kubien EM, Pozor MA, Tischner M: Clinical, cytogenetic and endocrine evaluation of a horse with a 65;XXY karyotype. Equine Vet J 24:333–335 (1993).

    External Resources

  115. Kuiper H, Distl O: Intersexualität beim Pferd. Dtsch tierärztl Wschr 114:50–56 (2007).
  116. Laor M, Barnea R, Angel H, Soller P: Polledness and hermaphroditism in Saanen goats. Israel J Agri Res 12:83 (1962).
  117. Lear TL, Bailey E: Equine cytogenetics: the past and future. Cytogenet Genome Res 120:42–49 (2008).
  118. Lee PA, Houk CP, Ahmed SF, Hughes IA: Consensus statement on management of intersex disorders. Pediatrics 118:e488–e500 (2006).
  119. Lofstedt RM, Buoen LC, Weber AF, Johnston SD, Huntington A, et al: Prolonged proestrus in a bitch with X chromosomal monosomy (77,X0). J Am Vet Med Assoc 200:1104–1106 (1992).
  120. Lojda L: The cytogenetic pattern in pigs with hereditary intersexuality similar to the syndrome of testicular feminization in man. Doc Vet (Brno) 8:71–82 (1975).
  121. Lojda L, Navratil S: Occurrence of cases analogous with the testicular feminization syndrome in Sus scrofa domestica. Cas Lek CesK 108:709–710 (1969).
  122. Long SE: Chromosome anomalies and infertility in the mare. Equine Vet J 20:89–93 (1988).
  123. Long SE, Davis JS: Testicular feminization in an Ayrshire cow. Vet Rec 109:116–118 (1981).
  124. Lush JL: Inheritance of horns, wattles and colour in grade Toggenburg goats. J Hered 17:73–90 (1926).
  125. Lyle SK: Disorders of sexual development in the dog and cat. Theriogenology 68:338–343 (2007).
  126. Lyon MF: Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 190:372–373 (1961).
  127. Maatouk DM, Capel B: Sexual development of the soma in the mouse. Curr Top Dev Biol 83:151–183 (2008).
  128. Maatouk DM, DiNapoli L, Alvers A, Parker KL, Taketo MM, Capel B: Stabilization of beta-catenin in XY gonads causes male-to-female sex-reversal. Hum Mol Genet 17:2949–2955 (2008).
  129. Maik H, Jaskowski L: Chromosome sex determination of intersexual pigs. Congr. Int. Reprod. Anim. Insemin. Artif., 6th, Paris, pp 909–911 (1968).
  130. Mäkelä O, Gustavsson I, Hollmén T: A 64,X,i(Xq) karyotype in a Standardbred filly. Equine Vet J 26:251–254 (1994).
  131. Mäkinen A, Andersson M, Nikunen S: Testicular hypoplasia in a boar with 39,XXY karyotype. Proceedings of the International Conference on Animal Biotechnology, Beijing, pp 87–90 (1997).
  132. Mäkinen A, Hasegawa T, Mäkilä M, Katila T: Infertility in two mares with XY and XXX sex chromosomes. Equine Vet J 31:346–349 (1999).
  133. Mäkinen A, Katila T, Andersson M, Gustavsson I: Two sterile stallions with XXY-syndrome. Equine Vet J 32:358–360 (2000).
  134. 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).
  135. Marcum JB: The freemartin syndrome. Anim Breed Abstr 42:227–242 (1974).
  136. Masuda H, Okamoto A, Waide Y: Autosomal abnormality in a swine. Jpn J Zootech Sci 46:671–676 (1975).
  137. Mayr B, Gilli H, Schleger W, Reifinger M, Burtscher H: Cytogenetic characterization of mammary tumors in two domestic dogs. Zentralbl Veterinärmed A 38:141–147 (1991).
  138. McElreavey K, Vilain E, Abbas N, Herskowitz I, Fellous M: A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development. Proc Natl Acad Sci USA 90:3368–3372 (1993).
  139. McFee AF, Banner MW, Rary JM: Variation in chromosome number among European wild pigs. Cytogenetics 5:75–81 (1966).
  140. McIlwaraith CW, Owen RAR, Basrur PK: An equine cryptorchid with testicular and ovarian tissues. Equine Vet J 8:156–160 (1976).
  141. Meeks JJ, Weiss J, Jameson JL: Dax1 is required for testis determination. Nat Genet 34:32–33 (2003).
  142. Melniczek JR, Dambach D, Prociuk U, Jezyk PF, Henthorn PS, et al: Sry-negative XX sex reversal in a family of Norwegian Elkhounds. J Vet Intern Med 13:564–569 (1999).
  143. Meyers-Wallen VN: Sry and Sox9 expression during canine gonadal sex determination assayed by quantitative reverse transcription-polymerase chain reaction. Mol Reprod Dev 65:373–381 (2003).
  144. Meyers-Wallen VN: Genetics, genomics and molecular biology of sex determination in small animals. Theriogenology 66:1655–1658 (2006).
  145. Meyers-Wallen VN, Palmer VL, Acland GM, Hershfield B: Sry-negative XX sex reversal in the American cocker spaniel dog. Mol Reprod Dev 41:300–305 (1995).
  146. 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).
  147. Meyers-Wallen VN, Schalafer D, Barr I, Lowell-Badge R, Keyzner A: Sry-negative sex reversal in purebred dogs. Mol Reprod Dev 53:266–273 (1999).
  148. Milliken JE, Paccamonti DL, Shoemaker S, Green WH: XX male pseudohermaphroditism in a horse. J Am Vet Med Assoc 207: 77–79 (1995).
  149. Miyake Y: Cytogenetical studies on swine intersexes. Jpn J Vet Res 21:41–50 (1973).
  150. Moraes JC, Mattevi MS, Ferreira JM: Chromosome studies in Brazilian rams. Vet Rec 107:489–490 (1980).
  151. Morais da Silva S, Hacker A, Harley V, Goodfellow P, Swain A, Lovell-Badge R: Sox9 expression during gonadal development implies a conserved role for the gene in testis differentiation in mammals and birds. Nat Genet 14:62–68 (1996).
  152. Moreno-Millán M, Delgado Bermejo JV, Alonso Garcia F: X-trisomy in Friesian cow with continuous oestrus. Vet Rec 21:167–168 (1987).
  153. Moreno-Millán M, Delgado Bermejo JV, Lopez Castillo G: An intersex horse with X chromosome trisomy. Vet Rec 124:169–170 (1989).
  154. Morris JM: The syndrome of testicular feminization in male pseudohermaphrodites. Am J Obstet Gynecol 65:1192–1211 (1953).
  155. Murakami R, Miyake Y, Kaneda Y: Cases of XY female, single-birth freemartin and trisomy (61, XX, +20) observed in cytogenetical studies on 18 sterile heifers. Nippon Juigaku Zasshi 51:941–945 (1989).
  156. Nam JS, Turcotte TJ, Smith PF, Choi S, Yoon JK: Mouse cristin/R-spondin family proteins are novel ligands for the Frizzled 8 and LRP6 receptors and activate beta-catenin-dependent gene expression. J Biol Chem 281:13247–13257 (2006).
  157. Nef S, Verma-Kurvari S, Merenmies J, Vassalli JD, Efstratiadis A, et al: Testis determination requires insulin receptor family function in mice. Nature 426:291–296 (2003).
  158. Nef S, Schaad O, Stallings NR, Cederroth CR, Pitetti JL, et al: Gene expression during sex determination reveals a robust female genetic program at the onset of ovarian development. Dev Biol 287:361–377 (2005).
  159. Nie GJ, Johnston SD, Hayden DW, Buoen LC, Stephens M: Theriogenology question of the month. Azoospermia associated with 79,XXY chromosome complement (canine Klinefelter’s syndrome). J Am Vet Med Assoc 212:1545–1547 (1998).
  160. Norberg HS, Refsdal AO, Garm ON, Nes N: A case report of X-trisomy in cattle. Hereditas 82:69–72 (1976).
  161. Okamoto A, Masuda H: Cytogenetic studies of intersex swine. Proc Jpn Acad 53:276–281 (1977).

    External Resources

  162. Omura Y: Morphological and chromosome studies on the genital organs of intersex goats and bovine freemartins. Hiroshima J Med Sci 26:81–102 (1977).
  163. Padula AM: The freemartin syndrome: an update. Anim Reprod Sci 87:93–109 (2005).
  164. Paget S, Ducos A, Mignotte F, Raymond I, Pinton A, et al: 63,XO/64,XYY mosaicism in a case of equine male pseudohermaphroditism. Vet Rec 148:24–25 (2001).
  165. Pailhoux E, Popescu PC, Parma P, Boscher J, Legault C, et al: Genetic analysis of 38XX males with genital ambiguities and true hermaphrodites in pigs. Anim Genet 25:299–305 (1994).
  166. Pailhoux E, Cribiu EP, Parma P, Cotinot C: Molecular analysis of an XY mare with gonadal dysgenesis. Hereditas 122:109–112 (1995).
  167. Pailhoux E, Pelliniemi L, Barbosa A, Parma P, Kuopio T, et al: Relevance of intersexuality to breeding and reproductive biotechnology programs; XX sex reversal in pigs. Theriogenology 47:93–102 (1997).

    External Resources

  168. Pailhoux E, Parma P, Sundstrom J, Vigier B, Servel N, et al: Time course of female-to-male sex reversal in 38,XX fetal and postnatal pigs. Dev Dyn 222:328–340 (2001a).
  169. 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 (2001b).
  170. Pailhoux E, Vigier B, Vaiman D, Schibler L, Vaiman A, et al: Contribution of domestic animals to the identification of new genes involved in sex determination. J Exp Zool 290:700–708 (2001c).
  171. 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).
  172. Palmer SJ, Burgoyne PS: In situ analysis of fetal, prepuberal and adult XX-XY chimaeric mouse testes: Sertoli cells are predominantly, but not exclusively, XY. Development 112:265–268 (1991).
  173. Pannettier M, Fabre S, Batista F, Kocer A, Renault L, et al: FOXL2 actives P450 aromatase gene transcription: towards a better characterization of the early steps of mammalian ovarian development. J Mol Endocrinol 36:399–413 (2006).
  174. Parkinson TJ, Smith KC, Long SE, Douthwaite JA, Mann GE, Knight PG: Inter-relationships among gonadotrophins, reproductive steroids and inhibin in freemartin ewes. Reproduction 122:397–409 (2001).
  175. Parma P, Pailhoux E, Cotinot C: Reverse transcription-polymerase chain reaction analysis of genes involved in gonadal differentiation in pigs. Biol Reprod 61:741–748 (1999).
  176. Parma P, Radi O, Vidal V, Chaboissier MC, Dellambra E, et al: R-spondin1 is essential in sex determination, skin differentiation and malignancy. Nat Genet 38:1304–1309 (2006).
  177. Patel RK, Singh KM, Soni KJ, Chauhan JB: Novel cytogenetic finding: an unusual X;X-translocation in Mehsana buffalo (Bubalus bubalis). Cytogenet Genome Res 115:186–188 (2006).
  178. Payen EJ, Cotinot CY: Comparative HMG-box sequences of the SRY gene between sheep, cattle and goats. Nucleic Acids Res 21:2772 (1993).
  179. Payen EJ, Cotinot CY: Sequence evolution of SRY gene within Bovidae family. Mamm Genome 5:723–725 (1994).
  180. Payen E, Pailhoux E, Abou Merhi R, Gianquinto L, Kirszenbaum M, et al: Characterization of ovine SRY transcript and developmental expression of genes involved in sexual differentiation. Int J Dev Biol 40:567–575 (1996).
  181. Pelliniemi LJ: Sexual differentiation of the pig gonad. Arch Anat Microsc Morphol Exp 74:76–80 (1985).
  182. Pinheiro LEL, Almeida IL, Garcia JM, Basrur PK: Trisomy X and 1/29 translocation in infertile heifers. Theriogenology 28:891–898 (1987).

    External Resources

  183. Pinheiro LEL, Mikich AB, Bechara GH, Almeida IL, Basrur PK: Isochromosome Y in an infertile heifer. Genome 33:690–695 (1990).
  184. Pinton A, Pailhoux E, Piumi F, Rogel-Gaillard C, Darre R, et al: A case of intersexuality in pigs associated with a de novo paracentric inversion 9 (p1.2; p2.2). Anim Genet 33:69–71 (2002).
  185. Pinton A, Raymond Letron I, Berland HM, Bonnet N, Calgaro A, et al: Meiotic studies in an azoospermic boar carrying a Y;14 translocation. Cytogenet Genome Res 120:106–111 (2008).
  186. Potter WL, Cooper JW, Blackshaw AW: Cytogenetical studies of infertile pigs. Aust Vet J 56:133–136 (1980).
  187. Powell CM: Sex chromosomes and sex chromosome abnormalities; in Gersen SL, Keagle MB (eds): The Principles of Clinical Cytogenetics, pp 229–258 (Humana Press, Totowa 1999).
  188. Power MM: Equine half sibs with an unbalanced X;15 translocation or trisomy 28. Cytogenet Cell Genet 45:163–168 (1987).
  189. Power MM, Leadon DP: Diploid-triploid chimaerism (64,XX/96,XXY) in an intersex foal. Equine Vet J 22:211–214 (1990).
  190. Prakash B, Balain DS, Lathwal SS: A 49,X0 sterile Murrah buffalo (Bubalus bubalis). Vet Rec 130:559–560 (1992).
  191. Prakash B, Balain DS, Lathwal SS, Malik RK: Trisomy-X in a sterile river buffalo. Vet Rec 134:241–242 (1994).
  192. Prakash B, Balain DS, Lathwal SS, Malik RK: Infertility associated with monosomy-X in a crossbred cattle heifer. Vet Rec 137:436–437 (1995).
  193. Pujar S, Kothapalli KSD, Goring HHH, Meyers-Wallen VN: Linkage to CFA29 detected in a genomewide linkage screen of a canine pedigree segregating SRY-negative XX sex reversal. J Hered 98:438–444 (2007).
  194. 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).
  195. Ramos ES, Moreira-Filho CA, Vicente YA, Llorach-Velludo MA, Tucci S, et al: SRY-negative true hermaphrodites and an XX male in two generations of the same family. Hum Genet 97:596–598 (1996).
  196. Reimann N, Bartnitzke S, Bullerdiek J, Mischke R, Nolte I: Trisomy 1 in a canine acute leukemia indicating the pathogenetic importance of polysomy 1 in leukemias of the dog. Cancer Genet Cytogenet 101:49–52 (1998).
  197. Reimann-Berg N, Murua Escobar H, Nolte I, Bullerdiek J: Testicular tumor in an XXY dog. Cancer Genet Cytogenet 183:114–116 (2008).
  198. Rho GJ, Coppola G, Sosnowski J, Kasimanickam R, Johnson WH, et al: Use of somatic cell nuclear transfer to study meiosis in female cattle carrying a sex-dependent fertility- impairing X-chromosome abnormality. Cloning Stem Cells 9:118-129 (2007).
  199. Rieck GW: Das XXY-Syndrome beim Rind (Boviner Hypogonadismus), in I. Europäisches Kolloquium über Zytogenetik (Chromosomenpathologie) in Veterinärmedizin und Säugetierkunde. Giessen, pp 138–145 (1970).
  200. Rieck GW, Hohn H, Herzog A: X-trisomy in cattle with signs of familial disposition for meiotic disturbances. Cytogenetics 9:401–409 (1970).
  201. Ross DG, Bowles J, Koopman P, Lehnert S: New insights into SRY regulation through identification of 5′ conserved sequences. BMC Mol Biol 9:85 (2008).
  202. Ruvinsky A, Spicer LJ: Developmental genetics; in Fries R, Ruvinsky A (eds): The Genetics of Cattle, pp 456–461 (CABI Publishing and CAB International, Wallingford, Oxon 1999).
  203. Schelling C, Pieńkowska A, Arnold S, Hauser B, Switoński M, et al: A male to female sex-reversed dog with a reciprocal translocation. J Reprod Fertil Suppl 57:435–438 (2001).
  204. Schmidt D, Ovitt CE, Anlag K, Fehsenfeld S, Gredsted L, et al: The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance. Development 131:933–942 (2004).
  205. Seguin BE, Zhang TQ, Buoen LC, Weber AF, Ruth GR: Cytogenetic survey of Holstein bulls at a commercial artificial insemination company to determine prevalence of bulls with centric fusion and chimeric anomalies. J Am Vet Med Assoc 216:65–67 (2000).
  206. Sekido R, Bar I, Narváez V, Penny G, Lovell-Badge R: SOX9 is up-regulated by the transient expression of SRY specifically in Sertoli cell precursors. Dev Biol 274:271–279 (2004).
  207. Sekido R, Lovell-Badge R: Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer. Nature 453:930–934 (2008).
  208. Sharma AK, Vijaykumar NK, Khar SK, Verma SK, Nigam JM: XY gonadal dysgenesis in a heifer. Vet Rec 107:328–330 (1980).
  209. Sim H, Argentaro A, Harley VR: Boys, girls and shuttling of SRY and SOX9. Trends Endocrinol Metabol 19:213–222 (2008).
  210. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, et al: A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346:240–244 (1990).
  211. Singh B, Fisher KRS, Yadav BR, Basrur PK: Characterization of a translocation and its impact on fertility in the pig. Genome 37:280–288 (1994).
  212. Sittmann K, Breeuwsma AJ, Brake JH: On the inheritance of intersexuality in swine. Can J Genet Cytol 22:507–527 (1980).
  213. Skillern A, Rajkovic A: Recent developments in identifying genetic determinants of premature ovarian failure. Sex Dev 2:228–243 (2008).
  214. Slaney SF, Chalmers IJ, Affara NA, Chitty LS: An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family. J Med Genet 35:17–22 (1998).
  215. Small CL, Shima JE, Uzumcu M, Skinner MK, Griswold MD: Profiling gene expression during the differentiation and development of the murine embryonic gonad. Biol Reprod 72:492–501 (2005).
  216. Smith CA, McClive PJ, Hudson Q, Sinclair AH: Male-specific cell migration into the developing gonad is a conserved process involving PDGF signalling. Dev Biol 284:337–350 (2005).
  217. Smith JFW, Buoen LC, Weber AF, Johnston SD, Randolph JF, et al: X-Chromosomal monosomy (77,X0) in a Doberman Pinscher with gonadal dysgenensis. J Vet Intern Med 3:90–95 (1989).
  218. Smith KC, Parkinson TJ, Long SE, Barr FJ: Anatomical, cytogenetic and behavioural studies of freemartin ewes. Vet Rec 146:574–578 (2000).
  219. Smith KC, Parkinson TJ, Pearson GR, Sylvester L, Long SE: Morphological, histological and histochemical studies of the gonads of ovine freemartins. Vet Rec 152:164–169 (2003).
  220. Smith MC, Dunn HO: Freemartin condition in a goat. J Am Vet Med Assoc 178:735–737 (1981).
  221. Sohn SH, Cho EJ, Son WJ, Lee CY: Diagnosis of bovine freemartinism by fluorescence in situ hybridization on interphase nuclei using a bovine Y chromosome-specific DNA probe. Theriogenology 68:1003–1011 (2007).
  222. Somlev B, Hansen-Melander E, Melander Y, Holm L: XX-XY chimerism in leucocytes of two intersexual pigs. Hereditas 64:203–210 (1970).
  223. Speed RM: Oocyte development in XO foetuses of man and mouse: the possible role of heterologous X-chromosome pairing in germ cell survival. Chromosoma 94:115–124 (1986).
  224. Switonski M: A pericentric inversion in an X chromosome in the cow. J Hered 78:58–59 (1987).
  225. Switoński M, Godynicki S, Jackowiak H, Pieńkowska A, Turczuk-Bierła I, et al: X trisomy in an infertile bitch: cytogenetic, anatomic, and histologic studies. J Hered 91:149–150 (2000).
  226. Switonski M, Jackowiak H, Godynicki S, Klukowska J, Borsiak K, et al: Familial occurrence of pig intersexes (38,XX; SRY-negative) on a commercial fattening farm. Anim Reprod Sci 69:117–124 (2002).
  227. Switonski M, Chmurzynska A, Szczerbal I, Lipczynski A, Yang F, et al: Sex reversal syndrome (64, XY; SRY-positive) in a mare demostrating masculine behaviour. J Anim Breed Genet 122(suppl 1):60–63 (2005).
  228. Sysa P, Bernacki Z, Kunska A: Intersexuality in cattle: a case of male pseudohermaphroditismus with a 60,XY karotype. Vet Rec 94:30–31 (1974).
  229. Szatkowska I: Frequency of lymphocytic XX/XY chimerism in Leine sheep coming from heterosexual twin and multiple births. J Appl Genet 36:373–378 (1995).
  230. Szatkowska I, Switonski M: Evidence on hereditary occurrence of placental anastomoses in heterosexual twins in sheep. Hereditas 124:107–110 (1996).
  231. Tambasco AJ, Ferrari I, Scheid IR, Mores N, Laus JE: Cytogenetic study of intersex swine. Rev Bras Genet 13:521–530 (1990).
  232. Tevosian SG, Albrecht KH, Crispino JD, Fujiwara Y, Eicher EM, et al: Gonadal differentiation, sex determination and normal Sry expression in mice require direct interaction between transcription partners GATA4 and FOG2. Development 129:4627–4634 (2002).
  233. Thomsen PD, Poulsen PH: Analysis of the gonadal sex of five intersex pigs using Y chromosomal markers. Hereditas 119:205–207 (1993).
  234. Tilmann C, Capel B: Mesonephric cell migration induces testis cord formation and Sertoli cell differentiation in the mammalian gonad. Development 126:2883–2890 (1999).
  235. Tomizuka K, Horikoshi K, Kitada R, Sugawara Y, Iba Y, et al: R-spondin1 plays an essential role in ovarian development through positively regulating Wnt-4 signaling. Hum Mol Genet 17:1278–1291 (2008).
  236. Toyama Y: Sex chromosome mosaicisms in five swine intersexes. Jpn J Zootech Sci 45:551–557 (1974).
  237. Uda M, Ottolenghi C, Crisponi L, Garcia JE, Deiana M, et al: Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development. Hum Mol Genet 13:1171–1181 (2004).
  238. Vaiman D, Pailhoux E, Schibler L, Oustry A, Chaffaux S, et al: Genetic mapping of the polled/intersex locus (PIS) in goats. Theriogenology 47:103–109 (1997).
  239. Vainio S, Heikkilä M, Kispert A, Chin N, McMahon AP: Female development in mammals is regulated by Wnt-4 signalling. Nature 397:405–409 (1999).
  240. Vallenzasca C, Martignoni M, Galli A: Finding of a bull with Y;17 translocation. Hereditas 113:63–67 (1990).
  241. Vaughan L, Scholield W, Ennis S: SRY-negative XX sex reversal in a pony: a case report. Theriogenology 55:1051–1057 (2001).
  242. Vidal VP, Chaboissier MC, de Rooij DG, Schedl A: Sox9 induces testis development in XX transgenic mice. Nat Genet 28:216–217 (2001).
  243. Vogt DW: Sex chromosome mosaicism in a swine intersex. J Hered 59:166–167 (1968).
  244. Wagner N, Wagner KD, Hammes A, Kirschner KM, Vidal VP, et al: A splice variant of the Wilms’ tumour suppressor Wt1 is required for normal development of the olfactory system. Development 132:1327–1336 (2005).
  245. Wensing CJG, Colenbrander B, Bosma AA: Testicular feminization syndrome and gubernacular development in a pig. P K Ned Akad C Biol 78:402-407 (1975).
  246. Wijeratne WV, Munro IB, Wilkes PR: Heifer sterility associated with single-birth freemartinism. Vet Rec 100:333–336 (1977).
  247. Wilhelm D, Martinson F, Bradford S, Wilson MJ, Combes AN, et al: Sertoli cell differentiation is induced both cell-autonomously and through prostaglandin signaling during mammalian sex determination. Dev Biol 287:111–124 (2005).
  248. Wilhelm D, Palmer S, Koopman P: Sex determination and gonadal development in mammals. Physiol Rev 87:1–28 (2007).
  249. Wilhelm D, Washburn LL, Truong V, Fellous M, Eicher EM, Koopman P: Antagonism of the testis- and ovary-determining pathways during ovotestis development in mice. Mech Dev 126:324–336 (2009).
  250. Wu W, Wan S, Pujar S, Haskins ME, Donald H: A single base pair mutation encoding a premature stop codon in the MIS type II receptor is responsible for canine persistent Mullerian duct syndrome. J Androl 30:46–56 (2009).
  251. Yadav BR, Balakrishnan CR: Trisomy of the X chromosome in a Murrah buffalo. Vet Rec 111:184–185 (1982).
  252. Yadav BR, Kumar P, Tomer OS, Kumar S, Balain DS: Monosomy X and gonadal dysgenesis in a buffalo heifer (Bubalus bubalis). Theriogenology 34:99–105 (1990).
  253. Zanaria E, Muscatelli F, Bardoni B, Strom TM, Guioli S, et al: An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 372:635–641 (1994).
  254. Zartman DL, Hinesley LL, Gnatkowski MW: A 53,X female sheep (Ovis aries). Cytogenet Cell Genet 30:54–58 (1981).

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