Concepedia

Failure of SOX9 Regulation in 46XY Disorders of Sex Development with SRY, SOX9 and SF1 Mutations

Kevin C. Knower, Sabine Kelly, Louisa Ludbrook, Stefan Bagheri‐Fam, Helena Sim, Pascal Bernard, Ryohei Sekido, Robin Lovell‐Badge, Vincent R. Harley

PLoS ONE · 2011 · 70 citations · 75 references

DOIFull text

Open access

Abstract

We demonstrate how three human sex-determining factors are likely to function during gonadal development around SOX9 as a hub gene, with different genetic causes of 46,XY DSD due a common failure to upregulate SOX9 transcription.

References

75

Consensus Statement on Management of Intersex Disorders

Peter A. Lee, Christopher P. Houk, S. Faisal Ahmed et al. · PEDIATRICS · 2006 · 2.3K citations

, , +16

Active genes are tri-methylated at K4 of histone H3

Helena Santos-Rosa, Robert Schneider, Andrew J. Bannister et al. · Nature · 2002 · 2.1K citations

, , +11

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

Thomas Wagner, Jutta Wirth, Jobst Meyer et al. · Cell · 1994 · 1.6K citations

, , +7

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

Jamie W. Foster, M. Dominguez-Steglich, Silvana Guioli et al. · Nature · 1994 · 1.6K citations

, , +10

Circular transcripts of the testis-determining gene Sry in adult mouse testis

Blanche Capel, Amanda Swain, Silvia K. Nicolis et al. · Cell · 1993 · 1.1K citations · Full text

, , +13