ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0021.6-6 | Clinical and Molecular Insights into SF1 Deficiency | ESPEYB21

6.6. A conserved NR5A1-responsive enhancer regulates SRY in testis-determination

D Houzelstein , C Eozenou , CF Lagos , M Elzaiat , J Bignon-Topalovic , I Gonzalez , V Laville , L Schlick , S Wankanit , P Madon , J Kirtane , A Athalye , F Buonocore , S Bigou , GS Conway , D Bohl , JC Achermann , A Bashamboo , K McElreavey

Brief Summary: This study identified a conserved enhancer element located 5’ of the mammalian SRY gene through comparative genomic analysis, which plays a crucial role in the regulation of sexual differentiation. NR5A1 binds to this element. The researchers discovered two distinct hemizygous base pair substitutions within this NR5A1 binding site, both of which involve highly conserved residues: one in a sporadic case of XY sex reversal and the other in a large fa...
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Published by BioScientifica

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