Genetic analysis of 38XX males with genital ambiguities and true hermaphrodites in pigs |
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| Authors: | E. Pailhoux C. Cotinot P. C. Popescu J. Boscher C. Legault M. Fellous P. Parma L. Molteni |
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| Affiliation: | Institut National de la Recherche Agronomique, Laboratoire de Biologie Cellulaire et Moléulaire, Bâtiment des Biotechnologies, 78352 Jouy-en-Josas, France;Institut National de la Recherche Agronomique, Laboratoire de Cytogénétique, Bâtiment des Biotechnologies, 78352 Jouy-en-Josas, France;Institut National de la Recherche Agronomique, Station de Génétique Quantitative et Appliquée, 78352 Jouy-en-Josas, France;Institut Pasteur, Laboratoire d'Immunogénétique Humaine, INSERM U. 276, 25 Rue du Dr. Roux, 75724 Paris cedex 15, France;Instituto di Zootecnia Generale, Facolta di Agraria, Universita Degli Studi, Milano, Italy |
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| Abstract: | In pig, the frequency of intersexuality ranges from 0.1 to O.6%, depending on the breed. In a closed pig herd at INRA an intersex condition was observed in 0.75% of ‘females’. The present study describes 11 animals with a 38XX karyotype and the presence of testicular tissue. Phenotypically, all presented with abnormal external or/and internal genitalia. Southern blot analysis with Y-specific probes (SRY and ZFY) revealed the absence of Y material in all animals tested. By polymerase chain reaction (PCR) amplification, 10 of 11 intersex pigs lacked the SRY gene in gonad DNA. These data are compatible with an autosomally (or pseudoautosomally) determined mechanism. Moreover, analysis of familial cases seemed to indicate that 38XX male pseudohermaprodites and 38XX true hermaphrodites may represent alternative manifestations of the same genetic defect. |
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| Keywords: | Intersexuality pig PCR Y-specific DNA sequences SRY ZFY |
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