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

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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Bibliographic Details
Main Authors: 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
Format: article
Language:EN
Published: Nature Portfolio 2018
Subjects:
Science
Q
Online Access:https://doaj.org/article/e81c5e53ca074ef49a72aa8ab16f5fd8
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