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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3765313/
https://www.ncbi.nlm.nih.gov/pubmed/24040047
http://dx.doi.org/10.1371/journal.pone.0073734
_version_ 1782283280669736960
author 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.
author_facet 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.
author_sort Kropatsch, Regina
collection PubMed
description 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.
format Online
Article
Text
id pubmed-3765313
institution National Center for Biotechnology Information
language English
publishDate 2013
publisher Public Library of Science
record_format MEDLINE/PubMed
spelling pubmed-37653132013-09-13 SOX9 Duplication Linked to Intersex in Deer 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. PLoS One Research Article 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. Public Library of Science 2013-09-06 /pmc/articles/PMC3765313/ /pubmed/24040047 http://dx.doi.org/10.1371/journal.pone.0073734 Text en © 2013 Kropatsch et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
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.
SOX9 Duplication Linked to Intersex in Deer
title SOX9 Duplication Linked to Intersex in Deer
title_full SOX9 Duplication Linked to Intersex in Deer
title_fullStr SOX9 Duplication Linked to Intersex in Deer
title_full_unstemmed SOX9 Duplication Linked to Intersex in Deer
title_short SOX9 Duplication Linked to Intersex in Deer
title_sort sox9 duplication linked to intersex in deer
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3765313/
https://www.ncbi.nlm.nih.gov/pubmed/24040047
http://dx.doi.org/10.1371/journal.pone.0073734
work_keys_str_mv AT kropatschregina sox9duplicationlinkedtointersexindeer
AT dekomiengabriele sox9duplicationlinkedtointersexindeer
AT akkaddenisa sox9duplicationlinkedtointersexindeer
AT gerdingwandam sox9duplicationlinkedtointersexindeer
AT petraschparwezelisabeth sox9duplicationlinkedtointersexindeer
AT youngneild sox9duplicationlinkedtointersexindeer
AT altmullerjanine sox9duplicationlinkedtointersexindeer
AT nurnbergpeter sox9duplicationlinkedtointersexindeer
AT gasserrobinb sox9duplicationlinkedtointersexindeer
AT epplenjorgt sox9duplicationlinkedtointersexindeer

Ejemplares similares