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SRY

MIM.480000 Yp11.3

testis-determining gene SRY

SRY encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA binding proteins (HMGs).

Pathology

- germline mutations in XY females with gonadal dysgenesis (one type of Swyer syndrome, MIM.306100)

- germline mutations in XX females with gonadal dysgenesis

- germline mutations in sex reversal with partial ovarian function

- partial gonadal dysgenesis

- translocation of part of the Y chromosome containing SRY to the X chromosome in XX males (MIM.278850).

References

- Mittwoch U. Sex is a threshold dichotomy mimicking a single gene effect. Trends Genet. 2006 Feb;22(2):96-100. PMID: 16377024

- Harley VR, Clarkson MJ, Argentaro A. The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility group (HMG) box 9]. Endocr Rev. 2003 Aug;24(4):466-87. PMID: 12920151

- Jordan BK, Vilain E. Sry and the genetics of sex determination. Adv Exp Med Biol. 2002;511:1-13; discussion 13-4. PMID: 12575752

- Clarkson MJ, Harley VR. Sex with two SOX on: SRY and SOX9 in testis development. Trends Endocrinol Metab. 2002 Apr;13(3):106-11. PMID: 11893523