SRY (sex-determining region Y), located in band Yp11.31, is the genetic master switch of mammalian sex determination1.
It encodes a transcription factor that is a member of the high mobility group (HMG) -box family of DNA binding proteins2. In mammals, it triggers the development of undifferentiated gonads into testes3. Human zygotes with mutations in SRY develop into XY females, while XX zygotes in the presence of SRY develop a male phenotype with occasional ambiguous genitalia4,5. Translocations of X and Y are rarely reported but often lead to sex reversal6.
1. Kashimada et al., Development 2010 ;137:3921-3930
2. Sinclair AH et al., Nature 1990;346:240-4
3. Koopman P et al., Nature 1991;351:117-21
4. Iida T et al., Hum Mol Genet 1994;3:1437-8
5. Kusz K et al., J Med Gene 1999;36:452-6
6. Ellaithi M et al., BMC Ped 2006;6:11
This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed peripheral blood samples.