title: Sry-negative XX sex reversal in purebred dogs.
abstract: The gene responsible for testis induction in normal male mammals is the Y-linked Sry. However, there is increasing evidence that other genes may have testis-determining properties. In XX sex reversal (XXSR), testis tissue develops in the absence of the Y chromosome. Previous polymerase chain reaction (PCR) assays indicated that autosomal recessive XXSR in the American cocker spaniel is Sry-negative. In this study, genomic DNA from the breeding colony of American cocker spaniels and from privately owned purebred dogs were tested by PCR using canine primers for the Sry HMG box and by Southern blots probed with the complete canine Sry coding sequence. Sry was not detected by either method in genomic DNA of affected American cocker spaniels or in the majority (20/21) of affected privately owned purebred dogs. These results confirm that the autosomal recessive form of XXSR in the American cocker spaniel is Sry-negative. In combination with previous studies, this indicates that Sry-negative XXSR occurs in at least 15 dog breeds. The canine disorder may be genetically heterogeneous, potentially with a different mutation in each breed, and may provide several models for human Sry-negative XXSR. A comparative approach to sex determination should be informative in defining the genetic and cellular mechanisms that are common to all mammals.
authors.affiliation: J.A. Baker Institute for Animal Health, Cornell University, Ithaca, New York 14853, USA. vnm1@cornell.edu
authors.forename: V N
authors.initials: VN
authors.lastname: Meyers-Wallen
authors.forename: D
authors.initials: D
authors.lastname: Schlafer
authors.forename: I
authors.initials: I
authors.lastname: Barr
authors.forename: R
authors.initials: R
authors.lastname: Lovell-Badge
authors.forename: A
authors.initials: A
authors.lastname: Keyzner
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001947:Breeding; D004268:DNA-Binding Proteins / Q000235:genetics*; D012734:Disorders of Sex Development; D004285:Dogs; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D010375:Pedigree; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D014960:X Chromosome
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors