title: A molecular diagnostic test for persistent Müllerian duct syndrome in miniature schnauzer dogs.
abstract: In persistent Müllerian duct syndrome (PMDS), Müllerian ducts fail to regress in males during sexual differentiation. In the canine miniature schnauzer model, PMDS is caused by a C to T transition in exon 3 of the Müllerian inhibiting substance type II receptor (MISRII), which introduces a DdeI restriction site. Here we report a molecular diagnostic test for PMDS in the miniature schnauzer to identify affected dogs and carriers. As our test results suggest that the mutation is identical by descent in affected dogs of this breed, the test could be used to eliminate this mutation from the miniature schnauzer breed worldwide.
authors.affiliation: Baker Institute for Animal Health, Cornell University, College of Veterinary Medicine, Ithaca, N.Y., USA.
authors.forename: S
authors.initials: S
authors.lastname: Pujar
authors.forename: V N
authors.initials: VN
authors.lastname: Meyers-Wallen
mesh_terms: D000818:Animals; D001483:Base Sequence; D004262:DNA Restriction Enzymes / Q000378:metabolism; D012734:Disorders of Sex Development / Q000175:diagnosis / Q000662:veterinary*; D004283:Dog Diseases / Q000175:diagnosis*; D004285:Dogs; D005091:Exons / Q000235:genetics; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D008969:Molecular Sequence Data; D009095:Mullerian Ducts / Q000473:pathology*
chemical_list: D004262:DNA Restriction Enzymes