Nature Communications (Dec 2018)
Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9
- Brittany Croft,
- Thomas Ohnesorg,
- Jacqueline Hewitt,
- Josephine Bowles,
- Alexander Quinn,
- Jacqueline Tan,
- Vincent Corbin,
- Emanuele Pelosi,
- Jocelyn van den Bergen,
- Rajini Sreenivasan,
- Ingrid Knarston,
- Gorjana Robevska,
- Dung Chi Vu,
- John Hutson,
- Vincent Harley,
- Katie Ayers,
- Peter Koopman,
- Andrew Sinclair
Affiliations
- Brittany Croft
- Murdoch Children’s Research Institute
- Thomas Ohnesorg
- Murdoch Children’s Research Institute
- Jacqueline Hewitt
- Murdoch Children’s Research Institute
- Josephine Bowles
- School of Biomedical Sciences, University of Queensland
- Alexander Quinn
- Institute for Molecular Bioscience, The University of Queensland
- Jacqueline Tan
- Murdoch Children’s Research Institute
- Vincent Corbin
- Bioinformatics Division, Walter & Eliza Hall Institute of Medical Research
- Emanuele Pelosi
- Institute for Molecular Bioscience, The University of Queensland
- Jocelyn van den Bergen
- Murdoch Children’s Research Institute
- Rajini Sreenivasan
- Murdoch Children’s Research Institute
- Ingrid Knarston
- Murdoch Children’s Research Institute
- Gorjana Robevska
- Murdoch Children’s Research Institute
- Dung Chi Vu
- Department of Medical Genetics, Metabolism & Endocrinology, National Children’s Hospital
- John Hutson
- Murdoch Children’s Research Institute
- Vincent Harley
- Hudson Institute for Medical Research
- Katie Ayers
- Murdoch Children’s Research Institute
- Peter Koopman
- Institute for Molecular Bioscience, The University of Queensland
- Andrew Sinclair
- Murdoch Children’s Research Institute
- DOI
- https://doi.org/10.1038/s41467-018-07784-9
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 10
Abstract
SRY and its target SOX9 are known key determinants in testis development. Here the authors by studying duplications and deletions upstream of SOX9 from patient samples with disorders of sex development (DSD) reveal enhancers for SOX9 critical for human sex development and DSD.
