title: Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.
abstract: Sexual development in mammals is based on a complicated and delicate network of genes and hormones that have to collaborate in a precise manner. The dark side of this pathway is represented by pathological conditions, wherein sexual development does not occur properly either in the XX and the XY background. Among them a conundrum is represented by the XX individuals with at least a partial testis differentiation even in absence of SRY. This particular condition is present in various mammals including the dog. Seven dogs characterized by XX karyotype, absence of SRY gene, and testicular tissue development were analysed by Array-CGH. In two cases the array-CGH analysis detected an interstitial heterozygous duplication of chromosome 9. The duplication contained the SOX9 coding region. In this work we provide for the first time a causative mutation for the XXSR condition in the dog. Moreover this report supports the idea that the dog represents a good animal model for the study of XXSR condition caused by abnormalities in the SOX9 locus.
authors.affiliation: Department of Molecular Medicine, Pavia University, Pavia, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Rossi
authors.affiliation: Department of Molecular Medicine, Pavia University, Pavia, Italy.
authors.forename: Orietta
authors.initials: O
authors.lastname: Radi
authors.affiliation: Department of Agricultural and Environmental Sciences, Milan University, Milan, Italy.
authors.forename: Lisa
authors.initials: L
authors.lastname: De Lorenzi
authors.affiliation: Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Vetro
authors.affiliation: Department of Veterinary Science and Public Health, Milan University, Milan, Italy.
authors.forename: Debora
authors.initials: D
authors.lastname: Groppetti
authors.affiliation: Department of Veterinary Science, Parma University, Parma, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Bigliardi
authors.affiliation: Department of Health, Animal Science and Food Safety, Milan University, Milan, Italy.
authors.forename: Gaia Cecilia
authors.initials: GC
authors.lastname: Luvoni
authors.affiliation: Department of Veterinary Science, Torino University, Torino, Italy.
authors.forename: Ada
authors.initials: A
authors.lastname: Rota
authors.affiliation: Department of Molecular Medicine, Pavia University, Pavia, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Camerino
authors.affiliation: Department of Molecular Medicine, Pavia University, Pavia, Italy.
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.affiliation: Department of Agricultural and Environmental Sciences, Milan University, Milan, Italy.
authors.forename: Pietro
authors.initials: P
authors.lastname: Parma
mesh_terms: D058531:46, XX Testicular Disorders of Sex Development / Q000235:genetics*; D000818:Animals; D004285:Dogs; D005260:Female; D020440:Gene Duplication; D024282:Genes, sry / Q000235:genetics*; D008297:Male; D055758:SOX9 Transcription Factor / Q000235:genetics*; D013737:Testis / Q000254:growth & development / Q000378:metabolism
chemical_list: D055758:SOX9 Transcription Factor