ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0016.6-3 | New Functions of (Old) Genes | ESPEYB16

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

B Croft , T Ohnesorg , J Hewitt , J Bowles , A Quinn , J Tan , V Corbin , E Pelosi , J van den Bergen , R Sreenivasan , I Knarston , G Robevska , DC Vu , J Hutson , V Harley , K Ayers , P Koopman , A Sinclair

Nat Commun. 2018 Dec 14;9(1):5319.doi: 10.1038/s41467-018-07784-9. PubMed [citation] PMID: 30552336Initial steps in the sex determination of the (human) testis depend on SRY regulating SOX9, but the exact mechanism that controls SOX9 expression remains unknown. These authors discovered four overlapping copy number variations (CNVs) upstr...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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