SOX9 duplication linked to intersex in deer

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, al...

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Bibliographic Details
Published inPloS one Vol. 8; no. 9; p. e73734
Main Authors Kropatsch, Regina, Dekomien, Gabriele, Akkad, Denis A, Gerding, Wanda M, Petrasch-Parwez, Elisabeth, Young, Neil D, Altmüller, Janine, Nürnberg, Peter, Gasser, Robin B, Epplen, Jörg T
Format Journal Article
LanguageEnglish
Published United States Public Library of Science 06.09.2013
Public Library of Science (PLoS)
Subjects
Animals
Cervus nippon
Chromosomes
Deer
Deer - genetics
Defects
Differences of sex development
Disorders of Sex Development - genetics
DNA Copy Number Variations
DNA sequencing
Female
Females
Gene Duplication
Gene expression
Gene sequencing
Genes
Genetic Variation
Genetics
Genomes
Genomics
Genotype
Genotype & phenotype
Intersex people
Male
Males
Mammals
Molecular Sequence Data
Phenotype
Polymerase Chain Reaction
Sequence Analysis, DNA - methods
Sox9 protein
SOX9 Transcription Factor - genetics
Transcription (Genetics)
Transcription factors
Germany
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Summary: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.
Bibliography:Competing Interests: The authors have declared that no competing interests exist.
Conceived and designed the experiments: JTE. Performed the experiments: JA PN NDY RK GD DAA WMG. Analyzed the data: RK GD DAA WMG. Contributed reagents/materials/analysis tools: JTE. Wrote the manuscript: RK GD JTE RBG. Bagged the intersex deer, recovered tissues and blood samples from control specimen: JTE. Roe deer genome sequencing: JA PN. Genomic assembly: NDY. Sanger sequencing and PCR analyses: RK GD DAA WMG. Wrote the manuscript, with critical inputs from DAA, NDY and other co-authors: RK GD JTE RBG. Provided illustration of the intersex roe deer: EPP. Managed the project: JTE.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0073734