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XX sex reversal in the German shorthaired pointer is probably caused by a mutant autosomal recessive gene. Although the dogs studied had a normal Sry gene, the part of the high mobility group (HMG) protein necessary for induction of the testis was not present. Testis differentiation was absent in all the dogs that had ambiguous external genitalia with enlarged clitoris. The testis differentiation cascade is controlled by the Sry gene that produces the DNA-binding HMG protein.

A study was conducted to analyze inherited disorders in dogs. Defects were categorized based on the first step at which development varied from normal. These include errors in chromosomal sex, gonadal sex and phenotypic sex. In addition, the occurrence of cryptorchidism as an isolated defect was examined. Known as the most common disorder of sexual development in canines, some forms of cryptorchidism are most likely to be inherited.

The linkage mapping studies are conducted among a pedigree derived from one proven carrier American cocker spaniel founder male and beagle females to determine canine Sry-negative XX sex reversal disorder. Findings reveal that a novel locus on CFA29 might be responsible for sex reversal in this pedigree.

Findings show that the genetic mutation that causes canine SRY-negative XX sex reversal is not likely to be located in regions for the following five candidate genes: LHX1, FOG2, GATA4, SOX9, and SF1. Research processes are included in the discussion.

The molecular steps in normal sexual development were largely discovered by studying patients and animal models with disorders of sexual development (DSD). Although several types of DSD have been reported in the cat and dog, which are often strikingly similar to human DSD, these have been infrequently utilized to contribute to our knowledge of mammalian sexual development. Canine and feline cases of DSD with sufficient evidence to be considered as potential models are summarized in this report. The consensus DSD terminology, and reference to previous terminology, is used to foster adoption of a common nomenclature that will facilitate communication and collaboration between veterinarians, physicians, and researchers. To efficiently utilize these unique resources as molecular tools continue to improve, it will be helpful to deposit samples from valuable cases into repositories where they are available to contribute to our understanding of sexual development, and thus improve human and animal health. Copyright © 2011 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Presents a study on the familial occurrence of sex reversal in German Shorthaired Pointer dogs. Conserved Sry high mobility group (HMG) box presence in genomic DNA of dogs; Use of polymerase chain reactions (PCR); Testis differentiation cascade.

Studies the exclusion of PISRT1 as a candidate locus for canine Sry-negative XX sex reversal. Pedigree of the Sry-negative XX sex reversal syndrome; Polymerase chain reaction condition; Identification of genetic polymorphism; Chromosomal location.

Discusses a research about the exclusion of Wilms tumor gene as a candidate gene for canine SRY-negative XX sex reversal. Claim that the disease-causing mutation in this pedigree should be identical by descent in all affected dogs as they all inherited the SRY-negative XX sex reversal trait from the founder sire; Suggestion that autosomal genes have a role in testis induction.