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Article

Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer.

Human mutation - 1 Dec 2018

Sreenivasan Rajini, Ludbrook Louisa, Fisher Brett, Declosmenil Faustine, Knower Kevin C, Croft Brittany, Bird Anthony D, Ryan Janelle, Bashamboo Anu, Sinclair Andrew H, Koopman Peter, McElreavey Ken, Poulat Francis, Harley Vincent R

Abstract excerpt

Nuclear receptor subfamily 5 group A member 1/Steroidogenic factor 1 (NR5A1; SF-1; Ad4BP) mutations cause 46,XY disorders of sex development (DSD), with phenotypes ranging from developmentally mild (e.g., hypospadias) to severe (e.g., complete gonadal dysgenesis). The molecular mechanism underlying this spectrum is unclear. During sex determination, SF-1 regulates SOX9 (SRY [sex determining region Y]-box 9)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 30067310
DOI: 10.1002/humu.23603

Genes

SOX9
SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer.PMID 30067310Read ↗

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