Peer-reviewed veterinary case report
Genetic testing finds sexual development disorders in French Bulldogs
By de Gennaro, Luciana et al.·Published in International journal of molecular sciences·2024·Department of Biosciences, Italy·View original on PubMed →
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Original publication title: Genomic Sequencing to Detect Cross-Breeding Quality in Dogs: An Example Studying Disorders in Sexual Development.
- Species:
- dog
Plain-English summary
A French Bulldog was found to have ambiguous genitalia and internal sexual anatomy due to a genetic condition known as a disorder of sexual development (DSD). Researchers used advanced genetic testing to investigate the dog's DNA and discovered a chromosomal mutation linked to sex reversal syndrome. They also noted that this dog had a higher number of genetic similarities with its relatives, suggesting it may have been bred from closely related parents. While they couldn't pinpoint specific genes causing the DSD, the study emphasizes the importance of responsible breeding practices to maintain genetic health in dogs.
People also search for: French Bulldog ambiguous genitalia · dog sexual development disorder · genetic testing for dogs · responsible dog breeding practices
Abstract
Disorders of sexual development (DSDs) in dogs, similar to humans, arise from genetic mutations, gonadal differentiation, or phenotypic sex development. The French Bulldog, a breed that has seen a surge in popularity and demand, has also shown a marked increase in DSD incidence. This study aims to characterize the genetic underpinnings of DSDs in a French Bulldog named, exhibiting ambiguous genitalia and internal sexual anatomy, and to explore the impact of breeding practices on genetic diversity within the breed. We utilized a comprehensive approach combining conventional cytogenetics, molecular techniques, and deep sequencing to investigate the genetic profile of. The sequence data were compared to three other male French Bulldogs' genome sequences with typical reproductive anatomy, including's father and the canine reference genome (CanFam6). We found a Robertsonian fusion involving chromosome 23 previously reported in dogs as a causative mutation responsible for sex reversal syndrome. Our findings revealed a 22% mosaicism (78,XX/77,XX), the absence of the sex-determining region () gene, and the presence of 43 unique Single Nucleotide Variants (SNVs) not inherited from the father. Notably, the run of homozygosity (ROH) analysis showedhas a higher number of homozygous segments compared to other Bulldogs, with a total length of these fragments 50% greater than the average, strongly suggesting this dog is the product of the mating between siblings. Although no direct causative genes for the DSD phenotype were identified, four candidate loci warrant further investigation. Our study highlighted the need for a better annotated and curated reference dog genome to define genes causative of any specific phenotype, suggests a potential genetic basis for the DSD phenotype in dogs, and underscores the consequences of uncontrolled breeding practices in French Bulldogs. These findings highlight the importance of implementing strategic genetic management to preserve genetic health and diversity in canine populations.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/39409092/