TY - JOUR
T1 - Boys, girls and shuttling of SRY and SOX9
AU - Sim, Helena
AU - Argentaro, Anthony
AU - Harley, Vincent R.
PY - 2008/8/1
Y1 - 2008/8/1
N2 - In the mammalian embryo, SRY and SOX9 are key Sertoli cell proteins that drive the development of the bipotential gonad into a testes rather than an ovary, leading ultimately to the male phenotype. Clinical SRY and SOX9 mutations causing disorders of sex development (DSD) highlight defective protein-protein interactions between SRY or SOX9, and carrier proteins required for nuclear import (importin-b and calmodulin) and nuclear export (CRM-1). The fine balance between import and export determines the levels of transcriptionally active SRY and SOX9 in the nucleus. Recently, post-translational modifications of SRY and SOX9 have been identified which affect nuclear transport. It is therefore timely that the consequences of sex-reversal mutation upon nuclear transport be reviewed. SRY and SOX9 mutations in DSD have uncovered regulatory sites for sumoylation, ubiquitination, acetylation and phosphorylation, many of which are essential for their transport and sex determining functions.
AB - In the mammalian embryo, SRY and SOX9 are key Sertoli cell proteins that drive the development of the bipotential gonad into a testes rather than an ovary, leading ultimately to the male phenotype. Clinical SRY and SOX9 mutations causing disorders of sex development (DSD) highlight defective protein-protein interactions between SRY or SOX9, and carrier proteins required for nuclear import (importin-b and calmodulin) and nuclear export (CRM-1). The fine balance between import and export determines the levels of transcriptionally active SRY and SOX9 in the nucleus. Recently, post-translational modifications of SRY and SOX9 have been identified which affect nuclear transport. It is therefore timely that the consequences of sex-reversal mutation upon nuclear transport be reviewed. SRY and SOX9 mutations in DSD have uncovered regulatory sites for sumoylation, ubiquitination, acetylation and phosphorylation, many of which are essential for their transport and sex determining functions.
UR - http://www.scopus.com/inward/record.url?scp=47249149614&partnerID=8YFLogxK
U2 - 10.1016/j.tem.2008.04.002
DO - 10.1016/j.tem.2008.04.002
M3 - Review Article
C2 - 18585925
AN - SCOPUS:47249149614
SN - 1043-2760
VL - 19
SP - 213
EP - 222
JO - Trends in Endocrinology & Metabolism
JF - Trends in Endocrinology & Metabolism
IS - 6
ER -