02123-A: Identifying the Gene Responsible For Inherited Infertility and Sterility in 28 Breeds

Grant Status: Closed

Grant Amount: $12,960
Vicki Meyers-Wallen; Cornell University
July 1, 2014 - June 30, 2015

Sponsor(s): Berner Lovers

Breed(s): -All Dogs
Research Program Area: Reproductive Conditions
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In a previous study, Dr. Meyers-Wallen demonstrated that canine XX Disorder of Sexual Development (DSD) is a sex-limited autosomal recessive trait. Affected dogs develop testes or ovotestes and are masculinized in proportion to the amount of testis. Those having bilateral testes are sterile. Dogs with ovotestes range from sterile to fertile, with most developing female genitalia. Fertile affected dogs transmit the mutation to all their offspring. Carrier sires are fertile, and by founder effect, have increased mutation frequency in some breeds. Elimination of this mutation would reduce inherited female sterility and infertility in 28 breeds. To this end, Dr. Meyers-Wallen hypothesizes that the XX DSD mutation is ancient, and therefore identical in most breeds. This predicts an identical XX DSD mutation in most, if not all breeds. In previous genomic studies, her research group identified a chromosomal region containing more than 16 fold enrichment for DNA sequence variants associated with XX DSD in the study pedigree. Using a custom designed array of 80 priority SNPs located in that region, they will now genotype affected dogs of 22 breeds and controls to identify variants that are identical in affected dogs. At the study conclusion, researchers are hopeful they will have an identical mutation candidate and be poised to develop a single DNA test for affected and carrier dogs in all breeds having this mutation.


Meyers-Wallen, V. N., Boyko, A. R., Danko, C. G., Grenier, J. K., Mezey, J. G., Hayward, J. J., … Sinclair, A. H. (2017). XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris). PLOS ONE, 12(10), e0186331. https://doi.org/10.1371/journal.pone.0186331

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