Data di Pubblicazione:
2014
Citazione:
Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs / E. Rossi, O. Radi, L. De Lorenzi, A. Vetro, D. Groppetti, E. Bigliardi, G.C. Luvoni, A. Rota, G. Camerino, O. Zuffardi, P. Parma. - In: PLOS ONE. - ISSN 1932-6203. - 9:7(2014 Jul), pp. e101244.1-e101244.7. [10.1371/journal.pone.0101244]
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.
Tipologia IRIS:
01 - Articolo su periodico
Elenco autori:
E. Rossi, O. Radi, L. De Lorenzi, A. Vetro, D. Groppetti, E. Bigliardi, G.C. Luvoni, A. Rota, G. Camerino, O. Zuffardi, P. Parma
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