Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9
Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9
About this item
Full title
Author / Creator
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 , Vu, Dung Chi , Hutson, John , Harley, Vincent , Ayers, Katie , Koopman, Peter and Sinclair, Andrew
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
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 gonad is crucial for testis development, ye...
Alternative Titles
Full title
Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9
Authors, Artists and Contributors
Author / Creator
Ohnesorg, Thomas
Hewitt, Jacqueline
Bowles, Josephine
Quinn, Alexander
Tan, Jacqueline
Corbin, Vincent
Pelosi, Emanuele
van den Bergen, Jocelyn
Sreenivasan, Rajini
Knarston, Ingrid
Robevska, Gorjana
Vu, Dung Chi
Hutson, John
Harley, Vincent
Ayers, Katie
Koopman, Peter
Sinclair, Andrew
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_e81c5e53ca074ef49a72aa8ab16f5fd8
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e81c5e53ca074ef49a72aa8ab16f5fd8
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-018-07784-9