SOX9 duplication linked to intersex in deer

PLoS One. 2013 Sep 6;8(9):e73734. doi: 10.1371/journal.pone.0073734. eCollection 2013.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • DNA Copy Number Variations
  • Deer / genetics*
  • Disorders of Sex Development / genetics*
  • Female
  • Gene Duplication*
  • Genetic Variation
  • Genotype
  • Male
  • Molecular Sequence Data
  • Phenotype
  • Polymerase Chain Reaction
  • SOX9 Transcription Factor / genetics*
  • Sequence Analysis, DNA / methods


  • SOX9 Transcription Factor

Associated data

  • GENBANK/HG326974
  • GENBANK/HG326975
  • GENBANK/HG326976
  • GENBANK/HG326977
  • GENBANK/HG326978
  • GENBANK/HG326979
  • GENBANK/HG326980
  • GENBANK/HG326981
  • GENBANK/HG326982
  • GENBANK/HG326983

Grant support

RBG's research is funded by the Australian Research Council (ARC, LP110100018,, the National Health and Medical Research Council (NHMRC, APP1044022,, Melbourne Water Corporation (, and the Alexander von Humboldt Foundation ( The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.