title: Sry-negative XX sex reversal in the German shorthaired pointer dog.
abstract: Present hypotheses indicate that a testis differentiation cascade in mammals is induced by Sry, a gene encoding a DNA binding protein of the high mobility group (HMG) class. In XX sex reversal, individuals lacking a Y chromosome develop testicular tissue. Sry translocation from the Y to the X chromosome has been found in some, but not all, of these individuals. XX sex reversal in the German shorthaired pointer dog may be a model of Sry-negative XX sex reversal in humans. The purposes of this study were to report the familial occurrence of sex reversal and determine whether the conserved Sry HMG box, the region of the Sry protein essential for testis induction, is present in genomic DNA of affected dogs. Canine Sry HMG box sequences were used as primers in polymerase chain reactions. A 104 bp Sry HMG box product was generated from normal males, but not from females or XX sex reversed dogs. Parallel control reactions using hypoxanthine phosphoribosyl transferase primers generated a 177 bp product from all dogs. The pedigree of affected dogs and the absence of Sry HMG box sequences in their genomic DNA suggest that this disorder is due to a mutant autosomal gene in the testis differentiation cascade.
authors.affiliation: J.A. Baker Institute, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853, USA.
authors.forename: V N
authors.initials: VN
authors.lastname: Meyers-Wallen
authors.forename: L
authors.initials: L
authors.lastname: Bowman
authors.forename: G M
authors.initials: GM
authors.lastname: Acland
authors.forename: V L
authors.initials: VL
authors.lastname: Palmer
authors.forename: D
authors.initials: D
authors.lastname: Schlafer
authors.forename: V
authors.initials: V
authors.lastname: Fajt
mesh_terms: D000818:Animals; D001483:Base Sequence; D002454:Cell Differentiation; D004268:DNA-Binding Proteins / Q000235:genetics*; D012734:Disorders of Sex Development; D004285:Dogs / Q000235:genetics*; D005260:Female; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012732:Sex Determination Analysis; D051876:Sex-Determining Region Y Protein; D013737:Testis / Q000166:cytology / Q000196:embryology*; D014157:Transcription Factors; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D007041:Hypoxanthine Phosphoribosyltransferase