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2019•Yearbook of pediatric endocrinologyRequires access

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

Brittany Croft, Thomas Ohnesorg, Jessica R. Hewitt, Josephine Bowles, Alexander Quinn, Junjun Tan, V Corbin, Emanuele Pelosi, van den Bergen J, Rajini Sreenivasan, Ingrid Knarston, Gorjana Robevska, Vu DC, JM Hutson, Vincent R. Harley, Katie Ayers, Peter Koopman, Alison J. Sinclair

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Abstract

Initial 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) upstream of SOX9 as the causes of sex reversal in two 46,XX DSD (with duplications) and two 46,XY DSD patients (with deletions). Prompted by this, they performed studies of these CNVs in cell systems and in mice, and found three essential regulatory elements for normal testis and male sex development, namely eSR-A, eSR-B and eALDI.

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What this paper is about

Initial 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) upstream of SOX9 as the causes of sex reversal in two 46,XX DSD (with duplications) and two 46,XY DSD patients (with deletions). Prompted by this, they performed studies of these CNVs in cell systems and in mice, and found three essential regulatory elements for normal testis and male sex development, namely eSR-A, eSR-B and eALDI.

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Available abstract

Initial 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) upstream of SOX9 as the causes of sex reversal in two 46,XX DSD (with duplications) and two 46,XY DSD patients (with deletions). Prompted by this, they performed studies of these CNVs in cell systems and in mice, and found three essential regulatory elements for normal testis and male sex development, namely eSR-A, eSR-B and eALDI.

Key concepts: SOX9, Testis determining factor, Sex reversal, Enhancer, Gene duplication, Biology, Disorders of sex development, Genetics

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Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9 — Research Paper | ScholarLens