Transcriptomics

Dataset Information

9

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 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. Seven dogs from different breeds have been considered in this study. All clinical activities and surgical experiments on the dogs were carried out following the Federation of European Laboratory Animal Science Association’s recommendations and European Union legislation (Council Directive 86/609/EEC). During the research no animals were sacrificed. Array-CGH was performed using a custom Agilent Canine Genome CGH Microarray 180 K (Agilent Technologies, Santa Clara, California, USA) and processed according to the manufacturer’s protocol. The arrays were analyzed with the Agilent scanner and the Feature Extraction software (v10.7.3.1). A graphical overview was obtained using the CGH analytics software (v7.0.4.0). The DNA extracted from a normal female (boxer breed) was used as the control in all cases. Sox9 duplications detected by array CGH were confirmed by Real-Time-qPCR .

ORGANISM(S): Canis lupus familiaris  

SUBMITTER: Debora Groppetti   Orietta Radi  Lisa De Lorenzi  Ada Rota  Enrico Brigliardi  Giovanna Camerino  Orsetta Zuffardi  Annalisa Vetro  Pietro Parma  Elena Rossi  Cecilia Luvoni 

PROVIDER: E-GEOD-57137 | ArrayExpress | 2014-08-05

SECONDARY ACCESSION(S): GSE57137PRJNA245545

REPOSITORIES: GEO, ArrayExpress

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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 incl  ...[more]

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