Genetic analysis of 38XX males with genital ambiguities and true hermaphrodites in pigs.
In pig, the frequency of intersexuality ranges from 0.1 to 0.6%, 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 pseudohermaphrodites and 38XX true hermaphrodites may represent alternative manifestations of the same genetic defect.
Pailhoux
E
E
Institut National de la Recherche Agronomique, Bâtiment des Biotechnologies, Jouy-en-Josas, France.
Popescu
P C
PC
Parma
P
P
Boscher
J
J
Legault
C
C
Molteni
L
L
Fellous
M
M
Cotinot
C
C
D000818:Animals; D001483:Base Sequence; D002871:Chromosome Banding; D002874:Chromosome Mapping; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics*; D012734:Disorders of Sex Development / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D004822:Epididymis / Q000002:abnormalities*; D005260:Female; D007621:Karyotyping; D008297:Male; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D010053:Ovary / Q000002:abnormalities*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D051876:Sex-Determining Region Y Protein; D013552:Swine / Q000235:genetics*; D013553:Swine Diseases; D013737:Testis / Q000002:abnormalities*; D014157:Transcription Factors / Q000235:genetics; D014960:X Chromosome
D017931:DNA Primers; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors