Sox9 duplications are a relevant cause of SRY-negative XX sex reversal dogs

Elena Rossi, Orietta Radi, Lisa De Lorenzi, Annalisa Vetro, Debora Groppetti, Enrico Bigliardi, Gaia Cecilia Luvoni, Ada Rota, Giovanna Camerino, Orsetta Zuffardi, Pietro Parma

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Article numbere101244
JournalPLoS One
Issue number7
Publication statusPublished - Jul 10 2014

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)


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