Journal article

SOX9 Duplication Linked to Intersex in Deer

Regina Kropatsch, Gabriele Dekomien, Denis A Akkad, Wanda M Gerding, Elisabeth Petrasch-Parwez, Neil D Young, Janine Altmueller, Peter Nuernberg, Robin B Gasser, Joerg T Epplen

PLOS ONE | PUBLIC LIBRARY SCIENCE | Published : 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.

Grants

Awarded by Australian Research Council (ARC)


Awarded by National Health and Medical Research Council (NHMRC)


Funding Acknowledgements

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.