| Description | This entry represents the testis-determining factor Sry (Sex-determining Region Y). Sry is a transcriptional activator that regulates a genetic switch in male development. It is necessary and sufficient for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells [ ]. Sry is involved in different aspects of gene regulation including promoter activation or repression and contains a high-mobility-group (HMG) box that recognises DNA by partial intercalation in the minor groove []. It binds to the DNA consensus sequence 5'-[AT]AACAA[AT]-3'. Sry also facilitates DNA bending and is involved in pre-mRNA splicing. It is also involved in maintenance of motor functions of dopaminergic neurons in the male adult brain. Sry interacts with a number of partners, including CALM, EP300 (modulates Sry DNA-binding activity), HDAC3, KPNB1, ZNF208 isoform KRAB-O, PARP1 (impaired Sry DNA-binding activity), SLC9A3R2 and WT1. The C-terminal nuclear localization signal in Sry HMG-box domain mediates nuclear import through importin beta 1 [].Defects in Sry can cause gonadal dysgenesis XY female type (GDXY) , which is also known as 'XY females' or Swyer syndrome [ ]. Patients suffer rapid and early degeneration of their gonads, which prevents the development secondary sexual characteristics at puberty. Defects in Sry are also found Turner's Syndrome, a disease characterised by gonadal dysgenesis in a 45,X female type []. Defects in Sry can also cause true hermaphroditism , genetically heterogeneous condition where patients have both mature ovarian and mature testicular tissue (46,XX, 46,XY or a mosaic of 46,XX/46,XY) []. | Name | Transcription factor SRY |
| Short Name | SRY | Type | Family |
Powered by
Have you tried our InterMine mobile apps?
and interoperation is funded by 
