SOX9 duplication linked to intersex in deer.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 24040047.
- Also identified by DOI 10.1371/journal.pone.0073734 and PMC identifier 3765313.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
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.
Medical subject headings
- Deer
- Disorders of Sex Development
- Gene Duplication
- SOX9 Transcription Factor