SOX9 duplication linked to intersex in deer

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

Abstract

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

Substances

  • 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, http://www.arc.gov.au/), the National Health and Medical Research Council (NHMRC, APP1044022, http://www.nhmrc.gov.au/), Melbourne Water Corporation (http://www.melbournewater.com.au/), and the Alexander von Humboldt Foundation (http://www.humboldt-foundation.de/). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.