SRY, Yp11.31, Red
DYZ1, Yq12, Green
DXZ1, Xp11.1-q11.1, Blue
The SRY probe, labelled in red, consists of two non-overlapping probes, 30kb and 50kb. The probes cover the entire SRY gene and flanking DNA, including the RPS4Y1 gene. The probe mix also contains control probes for the X centromere (DXZ1), labelled in blue, and for chromosome Y (DYZ1, the heterochromatic block at Yq12), labelled in green.
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.
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