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
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Research Support, Non-U.S. Gov't
MeSH terms
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Animals
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DNA Copy Number Variations
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Deer / genetics*
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Disorders of Sex Development / genetics*
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Female
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Gene Duplication*
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Genetic Variation
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Genotype
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Male
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Molecular Sequence Data
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Phenotype
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Polymerase Chain Reaction
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SOX9 Transcription Factor / genetics*
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Sequence Analysis, DNA / methods
Substances
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SOX9 Transcription Factor
Associated data
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GENBANK/HG326974
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GENBANK/HG326975
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GENBANK/HG326976
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GENBANK/HG326977
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GENBANK/HG326978
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GENBANK/HG326979
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GENBANK/HG326980
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GENBANK/HG326981
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GENBANK/HG326982
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GENBANK/HG326983
Grants and funding
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.