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Article

Copy number variation of two separate regulatory regions upstream of <i>SOX9</i> causes isolated 46,XY or 46,XX disorder of sex development

20 Jan 2015

Abstract excerpt

BACKGROUND: SOX9 mutations cause the skeletal malformation syndrome campomelic dysplasia in combination with XY sex reversal. Studies in mice indicate that SOX9 acts as a testis-inducing transcription factor downstream of SRY, triggering Sertoli cell and testis differentiation. An SRY-dependent testis-specific enhancer for Sox9 has been identified only in mice. A previous study has implicated copy number...

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PMID: 25604083
DOI: 10.1136/jmedgenet-2014-102864

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Related research

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Copy number variation of two separate regulatory regions upstream of <i>SOX9</i> causes isolated 46,XY or 46,XX disorder of sex developmentPMID 25604083Read ↗

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Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal DysgenesisSemantic proximity Read ↗

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A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb.Semantic proximity Read ↗

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The Molecular Action and Regulation of the Testis-Determining Factors, SRY (Sex-Determining Region on the Y Chromosome) and SOX9 [SRY-Related High-Mobility Group (HMG) Box 9]Semantic proximity Read ↗

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.Semantic proximity Read ↗

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