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

Croft, Brittany; Ohnesorg, Thomas; Hewitt, Jacqueline; Bowles, Josephine; Quinn, Alexander; Tan, Jacqueline; Corbin, Vincent; Pelosi, Emanuele; van den Bergen, Jocelyn; Sreenivasan, Rajini; Knarston, Ingrid; Robevska, Gorjana; Chi Vu, Dung; Hutson, John; Harley, Vincent; Ayers, Katie; Koopman, Peter; Sinclair, Andrew

doi:10.1038/s41467-018-07784-9

Public

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

Shared by NobleBlocks on Dec 14, 2018 • 12:00 AM UTC

Authors:

Brittany Croft

Thomas Ohnesorg

Jacqueline Hewitt

Abstract

Abstract Disorders of sex development (DSDs) are conditions affecting development of the gonads or genitalia. Variants in two key genes, SRY and its target SOX9 , are an established cause of 46,XY DSD, but the genetic basis of many DSDs remains unknown. SRY-mediated SOX9 upregulation in the early go...

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