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SOX9 duplication linked to intersex in deer

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Item Type:Article
Title:SOX9 duplication linked to intersex in deer
Creators Name:Kropatsch, R., Dekomien, G., Akkad, D.A., Gerding, W.M., Petrasch-Parwez, E., Young, N.D., Altmüller, J., Nürnberg, P., Gasser, R.B. and Epplen, J.T.
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.
Keywords:DNA Copy Number Variations, Disorders of Sex Development, Gene Duplication, Genetic Variation, Genotype, Molecular Sequence Data, Phenotype, Polymerase Chain Reaction, SOX9 Transcription Factor, DNA Sequence Analysis, Animals, Deer
Source:PLoS ONE
ISSN:1932-6203
Publisher:Public Library of Science
Volume:8
Number:9
Page Range:e73734
Date:6 September 2013
Official Publication:https://doi.org/10.1371/journal.pone.0073734
PubMed:View item in PubMed

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