Sex Determining Region Y (SRY)

TDF; TDY; Testis-Determining Factor

SPN	Q470
HGNC	11311
MGI	98660
PubMed	2247149
RGD	3759
UniProt	Q05066
Wiki	SRY

SRY is a sex-determining gene on the Y chromosome in the therians.This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis determining factor (TDF), also referred to as the SRY protein, which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis ; translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome.SRY has been linked to the fact that men are more likely than women to develop dopamine-related diseases such as schizophrenia and Parkinson's disease. makes a protein that controls concentrations of dopamine, the neurotransmitter that carries signals from the brain that control movement and coordination.

Reference

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Nature 346:240-244(1990) [PubMed] [Europe PMC] [Abstract]

"Identification of the transcriptional unit, structural organization, and promoter sequence of the human sex-determining region Y (SRY) gene, using a reverse genetic approach."
Am. J. Hum. Genet. 52:24-38(1993) [PubMed] [Europe PMC] [Abstract]

"Evidence that the SRY protein is encoded by a single exon on the human Y chromosome."
Genomics 17:736-739(1993) [PubMed] [Europe PMC] [Abstract]

"41 kilobases of analyzed sequence from the pseudoautosomal and sex-determining regions of the short arm of the human Y chromosome."
Genomics 27:306-311(1995) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"SRY, like HMG1, recognizes sharp angles in DNA."
EMBO J. 11:4497-4506(1992) [PubMed] [Europe PMC] [Abstract]

"The SRY high-mobility-group box recognizes DNA by partial intercalation in the minor groove: a topological mechanism of sequence specificity."
Proc. Natl. Acad. Sci. U.S.A. 90:11990-11994(1993) [PubMed] [Europe PMC] [Abstract]

"Distinct DNA-binding properties of the high mobility group domain of murine and human SRY sex-determining factors."
Proc. Natl. Acad. Sci. U.S.A. 91:3368-3372(1994) [PubMed] [Europe PMC] [Abstract]

"The human testis determining factor SRY binds a nuclear factor containing PDZ protein interaction domains."
J. Biol. Chem. 272:7167-7172(1997) [PubMed] [Europe PMC] [Abstract]

"Phosphorylation of an N-terminal motif enhances DNA-binding activity of the human SRY protein."
J. Biol. Chem. 273:7988-7995(1998) [PubMed] [Europe PMC] [Abstract]

"The Y-chromosomal genes SRY and ZFY are transcribed in adult human brain."
Neurogenetics 1:281-288(1998) [PubMed] [Europe PMC] [Abstract]

"A direct role of SRY and SOX proteins in pre-mRNA splicing."
Proc. Natl. Acad. Sci. U.S.A. 99:1146-1151(2002) [PubMed] [Europe PMC] [Abstract]

"Transcriptional activity of testis-determining factor SRY is modulated by the Wilms' tumor 1 gene product, WT1."
Oncogene 22:7900-7904(2003) [PubMed] [Europe PMC] [Abstract]

"Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations."
Proc. Natl. Acad. Sci. U.S.A. 100:7045-7050(2003) [PubMed] [Europe PMC] [Abstract]

"Recombinant expression, purification and characterisation of the HMG domain of human SRY."
Protein Pept. Lett. 10:281-286(2003) [PubMed] [Europe PMC] [Abstract]

"Sry-directed sex reversal in transgenic mice is robust with respect to enhanced DNA bending: comparison of human and murine HMG boxes."
Biochemistry 43:7066-7081(2004) [PubMed] [Europe PMC] [Abstract]

"Regulation of human SRY subcellular distribution by its acetylation/deacetylation."
EMBO J. 23:3336-3345(2004) [PubMed] [Europe PMC] [Abstract]

"Sry associates with the heterochromatin protein 1 complex by interacting with a KRAB domain protein."
Biol. Reprod. 72:407-415(2005) [PubMed] [Europe PMC] [Abstract]

"Defective calmodulin-mediated nuclear transport of the sex-determining region of the Y chromosome (SRY) in XY sex reversal."
Mol. Endocrinol. 19:1884-1892(2005) [PubMed] [Europe PMC] [Abstract]

"SRY-directed DNA bending and human sex reversal: reassessment of a clinical mutation uncovers a global coupling between the HMG box and its tail."
J. Mol. Biol. 360:310-328(2006) [PubMed] [Europe PMC] [Abstract]

"The poly(ADP-ribose) polymerase 1 interacts with Sry and modulates its biological functions."
Mol. Cell. Endocrinol. 257:35-46(2006) [PubMed] [Europe PMC] [Abstract]

"Sry and the hesitant beginnings of male development."
Dev. Biol. 302:13-24(2007) [PubMed] [Europe PMC] [Abstract]

"KRAB: a partner for SRY action on chromatin."
Mol. Cell. Endocrinol. 247:47-52(2006) [PubMed] [Europe PMC] [Abstract]

"Molecular basis of human 46X,Y sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex."
Cell 81:705-714(1995) [PubMed] [Europe PMC] [Abstract]

"Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA bending by a naturally occurring point mutation."
J. Mol. Biol. 312:481-499(2001) [PubMed] [Europe PMC] [Abstract]

"Structure of a complex of tandem HMG boxes and DNA."
J. Mol. Biol. 360:90-104(2006) [PubMed] [Europe PMC] [Abstract]

"Mutational analysis of SRY in XY females."
Hum. Mutat. 2:347-350(1993) [PubMed] [Europe PMC] [Abstract]

"Mutations in SRY and SOX9: testis-determining genes."
Hum. Mutat. 9:388-395(1997) [PubMed] [Europe PMC] [Abstract]

"Genetic evidence equating SRY and the testis-determining factor."
Nature 348:448-450(1990) [PubMed] [Europe PMC] [Abstract]

"Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain."
Hum. Mol. Genet. 2:785-789(1993) [PubMed] [Europe PMC] [Abstract]

"Familial case with sequence variant in the testis-determining region associated with two sex phenotypes."
Am. J. Hum. Genet. 50:1008-1011(1992) [PubMed] [Europe PMC] [Abstract]

"Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis."
Am. J. Hum. Genet. 51:979-984(1992) [PubMed] [Europe PMC] [Abstract]

"Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal."
Hum. Genet. 88:471-474(1992) [PubMed] [Europe PMC] [Abstract]

"True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case."
Am. J. Hum. Genet. 52:578-585(1993) [PubMed] [Europe PMC] [Abstract]

"A familial mutation in the testis-determining gene SRY shared by both sexes."
Hum. Genet. 90:350-355(1992) [PubMed] [Europe PMC] [Abstract]

"A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis."
J. Med. Genet. 30:655-657(1993) [PubMed] [Europe PMC] [Abstract]

"Description and functional implications of a novel mutation in the sex-determining gene SRY."
Hum. Mutat. 3:200-204(1994) [PubMed] [Europe PMC] [Abstract]

"Molecular basis of mammalian sexual determination: activation of Mullerian inhibiting substance gene expression by SRY."
Science 266:1494-1500(1994) [PubMed] [Europe PMC] [Abstract]

"Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers."
Am. J. Hum. Genet. 56:862-869(1995) [PubMed] [Europe PMC] [Abstract]

"True hermaphroditism with 46,XY karyotype and a point mutation in the SRY gene."
J. Pediatr. 126:1022-1022(1995) [PubMed] [Europe PMC] [Abstract]

"Novel missense mutation (P131R) in the HMG box of SRY in XY sex reversal."
Hum. Mutat. Suppl. 1:S328-S328(1998)

"Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations."
Cytogenet. Cell Genet. 80:188-192(1998) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives."
Hum. Genet. 102:213-215(1998) [PubMed] [Europe PMC] [Abstract]

"Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis."
Hum. Mutat. 11:90-91(1998) [PubMed] [Europe PMC] [Abstract]

"A rare case of 46,XX true hermaphroditism with hidden mosaicism with sex-determining region Y chromosome-bearing cells in the gonads."
Intern. Med. 37:467-471(1998) [PubMed] [Europe PMC] [Abstract]

"A novel sex-determining region on Y (SRY) missense mutation identified in a 46,XY female and also in the father."
Endocr. J. 46:735-739(1999) [PubMed] [Europe PMC] [Abstract]

"Another mutation within the HMG-box of the SRY gene associated with Swyer syndrome."
Hum. Mutat. 13:85-85(1999)

"SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite."
Am. J. Med. Genet. 90:25-28(2000) [PubMed] [Europe PMC] [Abstract]

"Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor."
J. Clin. Endocrinol. Metab. 85:2287-2292(2000) [PubMed] [Europe PMC] [Abstract]

"A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism."
J. Clin. Endocrinol. Metab. 85:1908-1911(2000) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal."
J. Hum. Genet. 45:112-114(2000) [PubMed] [Europe PMC] [Abstract]

"Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father."
J. Clin. Endocrinol. Metab. 87:3428-3432(2002) [PubMed] [Europe PMC] [Abstract]

"True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene."
J. Pediatr. Endocrinol. Metab. 16:575-580(2003) [PubMed] [Europe PMC] [Abstract]

"Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis."
Eur. J. Hum. Genet. 15:76-80(2007) [PubMed] [Europe PMC] [Abstract]