PLoS ONE (Jan 2013)

SOX9 duplication linked to intersex in deer.

  • Regina Kropatsch,
  • Gabriele Dekomien,
  • Denis A Akkad,
  • Wanda M Gerding,
  • Elisabeth Petrasch-Parwez,
  • Neil D Young,
  • Janine Altmüller,
  • Peter Nürnberg,
  • Robin B Gasser,
  • Jörg T Epplen

DOI
https://doi.org/10.1371/journal.pone.0073734
Journal volume & issue
Vol. 8, no. 9
p. e73734

Abstract

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A complex network of genes determines sex in mammals. Here, we studied a European roe deer with an intersex phenotype that was consistent with a XY genotype with incomplete male-determination. Whole genome sequencing and quantitative real-time PCR analyses revealed a triple dose of the SOX9 gene, allowing insights into a new genetic defect in a wild animal.