Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.

doi:10.1136/jmedgenet-2011-100255

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Article

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.

Journal of medical genetics - 1 Dec 2011

Benko Sabina, Gordon Christopher T, Mallet Delphine, Sreenivasan Rajini, Thauvin-Robinet Christel, Brendehaug Atle, Thomas Sophie, Bruland Ove, David Michel, Nicolino Marc, Labalme Audrey, Sanlaville Damien, Callier Patrick, Malan Valerie, Huet Frédéric, Molven Anders, Dijoud Frédérique, Munnich Arnold, Faivre Laurence, Amiel Jeanne, Harley Vincent, Houge Gunnar, Morel Yves, Lyonnet Stanislas

Abstract excerpt

BACKGROUND: The early gonad is bipotential and can differentiate into either a testis or an ovary. In XY embryos, the SRY gene triggers testicular differentiation and subsequent male development via its action on a single gene, SOX9. The supporting cell lineage of the bipotential gonad will differentiate as testicular Sertoli cells if SOX9 is expressed and conversely will differentiate as ovarian granulosa cells...

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Share to 46, XX Disorders of Sex Development

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to DNA Copy Number Variations

Share to Gene Duplication

Share to Gonadal Dysgenesis, 46,XY

Share to Regulatory Sequences, Nucleic Acid

Share to Sex-Determining Region Y Protein

Share to SOX9 Transcription Factor

Source

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Identifiers

PMID: 22051515
DOI: 10.1136/jmedgenet-2011-100255

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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