Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

SRY and its target SOX9 are known key determinants in testis development. Here the authors by studying duplications and deletions upstream of SOX9 from patient samples with disorders of sex development (DSD) reveal enhancers for SOX9 critical for human sex development and DSD.

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Autores principales:	Brittany Croft, Thomas Ohnesorg, Jacqueline Hewitt, Josephine Bowles, Alexander Quinn, Jacqueline Tan, Vincent Corbin, Emanuele Pelosi, Jocelyn van den Bergen, Rajini Sreenivasan, Ingrid Knarston, Gorjana Robevska, Dung Chi Vu, John Hutson, Vincent Harley, Katie Ayers, Peter Koopman, Andrew Sinclair
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2018
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/e81c5e53ca074ef49a72aa8ab16f5fd8
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spelling	oai:doaj.org-article:e81c5e53ca074ef49a72aa8ab16f5fd82021-12-02T14:40:31ZHuman sex reversal is caused by duplication or deletion of core enhancers upstream of SOX910.1038/s41467-018-07784-92041-1723https://doaj.org/article/e81c5e53ca074ef49a72aa8ab16f5fd82018-12-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-07784-9https://doaj.org/toc/2041-1723SRY and its target SOX9 are known key determinants in testis development. Here the authors by studying duplications and deletions upstream of SOX9 from patient samples with disorders of sex development (DSD) reveal enhancers for SOX9 critical for human sex development and DSD.Brittany CroftThomas OhnesorgJacqueline HewittJosephine BowlesAlexander QuinnJacqueline TanVincent CorbinEmanuele PelosiJocelyn van den BergenRajini SreenivasanIngrid KnarstonGorjana RobevskaDung Chi VuJohn HutsonVincent HarleyKatie AyersPeter KoopmanAndrew SinclairNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-10 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Brittany Croft Thomas Ohnesorg Jacqueline Hewitt Josephine Bowles Alexander Quinn Jacqueline Tan Vincent Corbin Emanuele Pelosi Jocelyn van den Bergen Rajini Sreenivasan Ingrid Knarston Gorjana Robevska Dung Chi Vu John Hutson Vincent Harley Katie Ayers Peter Koopman Andrew Sinclair Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9
description	SRY and its target SOX9 are known key determinants in testis development. Here the authors by studying duplications and deletions upstream of SOX9 from patient samples with disorders of sex development (DSD) reveal enhancers for SOX9 critical for human sex development and DSD.
format	article
author	Brittany Croft Thomas Ohnesorg Jacqueline Hewitt Josephine Bowles Alexander Quinn Jacqueline Tan Vincent Corbin Emanuele Pelosi Jocelyn van den Bergen Rajini Sreenivasan Ingrid Knarston Gorjana Robevska Dung Chi Vu John Hutson Vincent Harley Katie Ayers Peter Koopman Andrew Sinclair
author_facet	Brittany Croft Thomas Ohnesorg Jacqueline Hewitt Josephine Bowles Alexander Quinn Jacqueline Tan Vincent Corbin Emanuele Pelosi Jocelyn van den Bergen Rajini Sreenivasan Ingrid Knarston Gorjana Robevska Dung Chi Vu John Hutson Vincent Harley Katie Ayers Peter Koopman Andrew Sinclair
author_sort	Brittany Croft
title	Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9
title_short	Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9
title_full	Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9
title_fullStr	Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9
title_full_unstemmed	Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9
title_sort	human sex reversal is caused by duplication or deletion of core enhancers upstream of sox9
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/e81c5e53ca074ef49a72aa8ab16f5fd8
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Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

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