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SRY

MIM.480000 Yp11.3

Wednesday 15 December 2004

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

Sex determining factor (SRY) is located on the short arm of the Y chromosome? SRY plays an important role in initiating male sex determination, resulting in development of testicular tissue.

Pathology

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

  • Presence of the SRY gene in females results in XY sex reversal and increased risk of gonadal germ cell tumours if the karyotype also includes the so-called Gonadoblastoma on the Y chromosome (GBY) region.

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

  • The majority of mutations within the SRY gene are de novo affecting only a single individual in the family.
  • The mutations within the high-mobility group (HMG) region have the potential to affect its DNA binding activity.
  • The mutated SRY protein may be associated with the development of gonadoblastoma.

- germline mutations in XX females with gonadal dysgenesis

- germline mutations in sex reversal with partial ovarian function

- partial gonadal dysgenesis

Reviews

- 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

References

- A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma. Hersmus R, de Leeuw BH, Stoop H, Bernard P, van Doorn HC, Br├╝ggenwirth HT, Drop SL, Oosterhuis JW, Harley VR, Looijenga LH. Eur J Hum Genet. 2009 Dec;17(12):1642-9. PMID: 19513096