Sox9 duplications cause Sry-negative XX sex-reversal in 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 w

ORGANISM(S): Canis lupus familiaris

SUBMITTER: Elena Rossi 

PROVIDER: E-GEOD-57137 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress