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Index > Protein center > SRY(Gene name) > Human
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  • SRY (Gene name),
  • Sex-determining region Y protein (Protein name ),  SRY_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Gene name:
    SRY(TDF);
    Protein name:
    Sex-determining region Y protein;
    Alternative:
    Testis-determining factor;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Interacts with CALM, EP300, HDAC3, KPNB1, ZNF208 isoform KRAB-O, PARP1, SLC9A3R2 and WT1. The interaction with EP300 modulates its DNA-binding activity. The interaction with KPNB1 is sensitive to dissociation by Ran in the GTP-bound form (By similarity). Interaction with PARP1 impaired its DNA-binding activity.
    Function:
    Transcriptional regulator that controls a genetic switch in male development. It is necessary and sufficient for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity). In male adult brain involved in the maintenance of motor functions of dopaminergic neurons (By similarity). Involved in different aspects of gene regulation including promoter activation or repression (By similarity). Promotes DNA bending. SRY HMG box recognizes DNA by partial intercalation in the minor groove. Also involved in pre-mRNA splicing. Binds to the DNA consensus sequence 5'-[AT]AACAA[AT]-3'.
    Subcellular Location:
    Nucleus speckle Cytoplasm Colocalizes with SOX6 in speckles. Colocalizes with CAML in the nucleus. Colocalizes in the nucleus with ZNF208 isoform KRAB-O and tyrosine hydroxylase (TH).
    Protein Attributes:
    Sequence length:
    204
    Sequence:
    50:
    MQSYASAMLS | VFNSDDYSPA | VQENIPALRR | SSSFLCTESC | NSKYQCETGE | 
    100:
    NSKGNVQDRV | KRPMNAFIVW | SRDQRRKMAL | ENPRMRNSEI | SKQLGYQWKM | 
    150:
    LTEAEKWPFF | QEAQKLQAMH | REKYPNYKYR | PRRKAKMLPK | NCSLLPADPA | 
    200:
    SVLCSEVQLD | NRLYRDDCTK | ATHSRMEHQL | GHLPPINAAS | SPQQRDRYSH | 
    204:
    WTKL
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
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    Related Databases
    Pfam:
    MIM:
    UniGene:
    SMR:
    KEGG:
    String:
    Uniprot:
     
    FOR
    ELISA Kit for Human Sex-determining region Y protein
    Cat.:
    E8883h
    Price:
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    MSDS:
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    Packing:
    96T
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    ELISA Kit for Human Sex-determining region Y protein
    Cat.:
    E8883d
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    MSDS:
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    Packing:
    96T
    Range:
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    ELISA Kit for Human Sex-determining region Y protein
    Cat.:
    E8883m
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    Please sign in first.
    MSDS:
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    Packing:
    96T
    ELISA Kit for Human Sex-determining region Y protein
    Cat.:
    E8883r
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    MSDS:
    Please sign in first.
    Packing:
    96T
    ELISA Kit for Human Sex-determining region Y protein
    Cat.:
    E8883p
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    MSDS:
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    Packing:
    96T
    ELISA Kit for Human Sex-determining region Y protein
    Cat.:
    E8883b
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    MSDS:
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    Packing:
    96T
    CLIA Kit for Human Sex-determining region Y protein
    Cat.:
    U8883p
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    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Sex-determining region Y protein
    Cat.:
    U8883m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Sex-determining region Y protein
    Cat.:
    U8883r
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Sex-determining region Y protein
    Cat.:
    U8883b
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    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Sex-determining region Y protein
    MSDS:
    Please sign in first.
    CLIA Kit for Human Sex-determining region Y protein
    Cat.:
    U8883h
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    MSDS:
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    Packing:
    96T
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    Polyclonal Antibody for Human Sex-determining region Y protein
    Polyclonal Antibody for Human Sex-determining region Y protein
    Polyclonal Antibody for Human Sex-determining region Y protein
    Cat.:
    P8883Rb-h
    Price:
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Sex-determining region Y protein
    Polyclonal Antibody for Human Sex-determining region Y protein
    Cat.:
    P8883Rb-m
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Sex-determining region Y protein
    Monoclonal Antibody for Human Sex-determining region Y protein
    Monoclonal Antibody for Human Sex-determining region Y protein
    Monoclonal Antibody for Human Sex-determining region Y protein
    Monoclonal Antibody for Human Sex-determining region Y protein
    Monoclonal Antibody for Human Sex-determining region Y protein
    Monoclonal Antibody for Human Sex-determining region Y protein
    Protein for Human Sex-determining region Y protein
    Protein for Human Sex-determining region Y protein
    Protein for Human Sex-determining region Y protein
    Protein for Human Sex-determining region Y protein
    Protein for Human Sex-determining region Y protein
    Protein for Human Sex-determining region Y protein

    R&D Technical Data

    s

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    s
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    Precision

    Intra-assay Precision (Precision within an assay):Three samples of known concentration were tested twenty times on one plate to assess intra-assay precision.

    Intra-Assay CV: ≤5.3%

    Inter-assay Precision (Precision between assays):Three samples of known concentration were tested in five separate assays to assess inter-assay precision.

    Inter-Assay CV: ≤6.7%

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    Intra-assay Precision (Precision within an assay):Three samples of known concentration were tested twenty times on one plate to assess intra-assay precision.

    Intra-Assay CV: ≤3.9%

    Inter-assay Precision (Precision between assays):Three samples of known concentration were tested in five separate assays to assess inter-assay precision.

    Inter-Assay CV: ≤7.7%

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    Recovery

    Recovery was determined by spiking various levels of SRY into serum and plasma .

    Sample Type

    Average(%)

    Recovery Range(%)

    Serum

    98

    93-104

    Plasma

    99

    92-105

     

     

     

     

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    Recovery was determined by spiking various levels of ACE into serum and plasma .

    Sample Type

    Average(%)

    Recovery Range(%)

    Serum

    99

    91-103

    Plasma

    98

    93-106

     

     

     

     

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    Linearity

     

    The linearity of the kit was assayed by testing samples spiked with appropriate concentration of SRY and their serial dilutions. The results were demonstrated by the percentage of calculated concentration to the expected.  

     

    Sample

    1:2

    1:4

    1:8

    1:16

    serum(n=5)

    93-103%

    91-104%

    90-107%

    92-106%

    EDTA plasma(n=5)

    90-108%

    95-102%

    92-106%

    94-105%

    heparin plasma(n=5)

    94-103%

     

    90-107%

    93-103%

    91-108%

     

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    The linearity of the kit was assayed by testing samples spiked with appropriate concentration of ACE and their serial dilutions. The results were demonstrated by the percentage of calculated concentration to the expected.  

     

    Sample

    1:2

    1:4

    1:8

    1:16

    serum(n=5)

    92-105%

    90-101%

    95-105%

    92-109%

    EDTA plasma(n=5)

    89-95%

    93105%

    89-94%

    90-106%

    heparin plasma(n=5)

    93-104%

     

    94-110%

    101-111%

    91-110%

     

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    References
    1. 1.
      "A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif."
      Sinclair A.H. , Berta P. , Palmer M.S. , Hawkins J.R. , Griffiths B.L. , Smith M.J. , Foster J.W. , Frischauf A.-M. , Lovell-Badge R. , Goodfellow P.N.
      Nature346:240-244(1990) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
    2. 2.
      "Identification of the transcriptional unit, structural organization, and promoter sequence of the human sex-determining region Y (SRY) gene, using a reverse genetic approach."
      Su H. , Lau Y.-F.C.
      Am. J. Hum. Genet.52:24-38(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]
    3. 3.
      "Evidence that the SRY protein is encoded by a single exon on the human Y chromosome."
      Behlke M.A. , Bogan J.S. , Beer-Romero P. , Page D.C.
      Genomics17:736-739(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
    4. 4.
      "41 kilobases of analyzed sequence from the pseudoautosomal and sex-determining regions of the short arm of the human Y chromosome."
      Whitfield L.S. , Hawkins J.R. , Goodfellow P.N. , Sulston J.
      Genomics27:306-311(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
    5. 5.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
    6. 6.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF DNA-BINDING
    7. 7.
      "The SRY high-mobility-group box recognizes DNA by partial intercalation in the minor groove: a topological mechanism of sequence specificity."
      King C.Y. , Weiss M.A.
      Proc. Natl. Acad. Sci. U.S.A.90:11990-11994(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF DNA-BINDING
    8. 8.
      "Distinct DNA-binding properties of the high mobility group domain of murine and human SRY sex-determining factors."
      Giese K. , Pagel J. , Grosschedl R.
      Proc. Natl. Acad. Sci. U.S.A.91:3368-3372(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF DNA-BINDING
    9. 9.
      "The human testis determining factor SRY binds a nuclear factor containing PDZ protein interaction domains."
      Poulat F. , de Santa Barbara P. , Desclozeaux M. , Soullier S. , Moniot B. , Bonneaud N. , Boizet B. , Berta P.
      J. Biol. Chem.272:7167-7172(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH SLC9A3R2
    10. 10.
      "Phosphorylation of an N-terminal motif enhances DNA-binding activity of the human SRY protein."
      Desclozeaux M. , Poulat F. , de Santa Barbara P. , Capony J.-P. , Turowski P. , Jay P. , Mejean C. , Moniot B. , Boizet B. , Berta P.
      J. Biol. Chem.273:7988-7995(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION;MUTAGENESIS OF 31-SER--SER-33
    11. 11.
      "The Y-chromosomal genes SRY and ZFY are transcribed in adult human brain."
      Mayer A. , Lahr G. , Swaab D.F. , Pilgrim C. , Reisert I.
      Neurogenetics1:281-288(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: TISSUE SPECIFICITY
    12. 12.
      "A direct role of SRY and SOX proteins in pre-mRNA splicing."
      Ohe K. , Lalli E. , Sassone-Corsi P.
      Proc. Natl. Acad. Sci. U.S.A.99:1146-1151(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;SUBCELLULAR LOCATION
    13. 13.
      "Transcriptional activity of testis-determining factor SRY is modulated by the Wilms' tumor 1 gene product, WT1."
      Matsuzawa-Watanabe Y. , Inoue J. , Semba K.
      Oncogene22:7900-7904(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH WT1
    14. 14.
      "Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations."
      Harley V.R. , Layfield S. , Mitchell C.L. , Forwood J.K. , John A.P. , Briggs L.J. , McDowall S.G. , Jans D.A.
      Proc. Natl. Acad. Sci. U.S.A.100:7045-7050(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH KPNB1;DNA-BINDING;MUTAGENESIS OF ARG-62; ARG-75; ARG-76 AND ARG-133
    15. 15.
      "Recombinant expression, purification and characterisation of the HMG domain of human SRY."
      Kelly S. , Yotis J. , Macris M. , Harley V.
      Protein Pept. Lett.10:281-286(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH CALM
    16. 16.
      "Sry-directed sex reversal in transgenic mice is robust with respect to enhanced DNA bending: comparison of human and murine HMG boxes."
      Phillips N.B. , Nikolskaya T. , Jancso-Radek A. , Ittah V. , Jiang F. , Singh R. , Haas E. , Weiss M.A.
      Biochemistry43:7066-7081(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;DNA-BINDING
    17. 17.
      "Regulation of human SRY subcellular distribution by its acetylation/deacetylation."
      Thevenet L. , Mejean C. , Moniot B. , Bonneaud N. , Galeotti N. , Aldrian-Herrada G. , Poulat F. , Berta P. , Benkirane M. , Boizet-Bonhoure B.
      EMBO J.23:3336-3345(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH EP300; HDAC3 AND KPNB1;ACETYLATION AT LYS-136;MUTAGENESIS OF LYS-115; LYS-123; LYS-128; LYS-134 AND LYS-136;SUBCELLULAR LOCATION
    18. 18.
      "Sry associates with the heterochromatin protein 1 complex by interacting with a KRAB domain protein."
      Oh H.J. , Li Y. , Lau Y.-F.C.
      Biol. Reprod.72:407-415(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH ZNF208 ISOFORM KRAB-O
    19. 19.
      "Defective calmodulin-mediated nuclear transport of the sex-determining region of the Y chromosome (SRY) in XY sex reversal."
      Sim H. , Rimmer K. , Kelly S. , Ludbrook L.M. , Clayton A.H. , Harley V.R.
      Mol. Endocrinol.19:1884-1892(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH CALM;MUTAGENESIS OF ARG-75; ARG-76 AND ARG-133;SUBCELLULAR LOCATION
    20. 20.
      "SRY-directed DNA bending and human sex reversal: reassessment of a clinical mutation uncovers a global coupling between the HMG box and its tail."
      Li B. , Phillips N.B. , Jancso-Radek A. , Ittah V. , Singh R. , Jones D.N. , Haas E. , Weiss M.A.
      J. Mol. Biol.360:310-328(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;MUTAGENESIS OF MET-64
    21. 21.
      "The poly(ADP-ribose) polymerase 1 interacts with Sry and modulates its biological functions."
      Li Y. , Oh H.J. , Lau Y.-F.C.
      Mol. Cell. Endocrinol.257:35-46(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH PARP1;ADP-RIBOSYLATION
    22. 22.
      "Sry and the hesitant beginnings of male development."
      Polanco J.C. , Koopman P.
      Dev. Biol.302:13-24(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW
    23. 23.
      "KRAB: a partner for SRY action on chromatin."
      Oh H.J. , Lau Y.F.
      Mol. Cell. Endocrinol.247:47-52(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW
    24. 24.
      "Molecular basis of human 46X,Y sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex."
      Werner M.H. , Huth J.R. , Gronenborn A.M. , Clore G.M.
      Cell81:705-714(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 56-131 IN COMPLEX WITH DNA
    25. 25.
      "Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA bending by a naturally occurring point mutation."
      Murphy E.C. , Zhurkin V.B. , Louis J.M. , Cornilescu G. , Clore G.M.
      J. Mol. Biol.312:481-499(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 57-218 IN COMPLEX WITH DNA;CHARACTERIZATION OF VARIANT SRXY1 ILE-64;FUNCTION
    26. 26.
      "Structure of a complex of tandem HMG boxes and DNA."
      Stott K. , Tang G.S. , Lee K.B. , Thomas J.O.
      J. Mol. Biol.360:90-104(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 56-130 IN COMPLEX WITH DNA
    27. 27.
      "Mutational analysis of SRY in XY females."
      Hawkins J.R.
      Hum. Mutat.2:347-350(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
    28. 28.
      "Mutations in SRY and SOX9: testis-determining genes."
      Cameron F.J. , Sinclair A.H.
      Hum. Mutat.9:388-395(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
    29. 29.
      "Genetic evidence equating SRY and the testis-determining factor."
      Berta P. , Hawkins J.R. , Sinclair A.H. , Taylor A. , Griffiths B.L. , Goodfellow P.N. , Fellous M.
      Nature348:448-450(1990) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS SRXY1 LEU-60 AND ILE-64
    30. 30.
      "Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain."
      Affara N.A. , Chalmers I.J. , Ferguson-Smith M.A.
      Hum. Mol. Genet.2:785-789(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS SRXY1 GLY-62; THR-78 AND TRP-133
    31. 31.
      "Familial case with sequence variant in the testis-determining region associated with two sex phenotypes."
      Vilain E. , McElreavey K. , Jaubert F. , Raymond J.-P. , Richaud F. , Fellous M.
      Am. J. Hum. Genet.50:1008-1011(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SRXY1 LEU-60
    32. 32.
      "Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis."
      Hawkins J.R. , Taylor A. , Goodfellow P.N. , Migeon C.J. , Smith K.D. , Berkovitz G.D.
      Am. J. Hum. Genet.51:979-984(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS SRXY1 MET-90 AND ILE-106
    33. 33.
      "Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal."
      Hawkins J.R. , Taylor A. , Berta P. , Levilliers J. , van der Auwera B. , Goodfellow P.N.
      Hum. Genet.88:471-474(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SRXY1 ARG-95
    34. 34.
      "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."
      Braun A. , Kammerer S. , Cleve H. , Loehrs U. , Schwarz H.-P. , Kuhnle U.
      Am. J. Hum. Genet.52:578-585(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SRXY1 HIS-101
    35. 35.
      "A familial mutation in the testis-determining gene SRY shared by both sexes."
      Jaeger R.J. , Harley V.R. , Pfeiffer R.A. , Goodfellow P.N. , Scherer G.
      Hum. Genet.90:350-355(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SRXY1 SER-109
    36. 36.
      "A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis."
      Zeng Y. , Ren Z. , Zhang M. , Huang Y. , Zeng F. , Huang S.
      J. Med. Genet.30:655-657(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SRXY1 THR-113
    37. 37.
      "Description and functional implications of a novel mutation in the sex-determining gene SRY."
      Poulat F. , Soulier S. , Goze C. , Heitz F. , Calas B. , Berta P.
      Hum. Mutat.3:200-204(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SRXY1 CYS-127
    38. 38.
      "Molecular basis of mammalian sexual determination: activation of Mullerian inhibiting substance gene expression by SRY."
      Haqq C.M. , King C.Y. , Ukiyama E. , Falsafi S. , Haqq T.N. , Donahoe P.K. , Weiss M.A.
      Science266:1494-1500(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SRXY1 THR-68
    39. 39.
      "Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers."
      Schmitt-Ney M. , Thiele H. , Kaltwasser P. , Bardoni B. , Cisternino M. , Scherer G.
      Am. J. Hum. Genet.56:862-869(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS SRXY1 GLY-91 AND LEU-125
    40. 40.
      "True hermaphroditism with 46,XY karyotype and a point mutation in the SRY gene."
      Hiort O. , Klaubert G.T.
      J. Pediatr.126:1022-1022(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SRXY1 ALA-60
    41. 41.
      "Novel missense mutation (P131R) in the HMG box of SRY in XY sex reversal."
      Lundberg Y. , Ritzen M. , Harlin J. , Wedell A.
      Hum. Mutat. Suppl.1:S328-S328(1998)
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SRXY1 ARG-131
    42. 42.
      "Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations."
      Scherer G. , Held M. , Erdel M. , Meschede D. , Horst J. , Lesniewicz R. , Midro A.T.
      Cytogenet. Cell Genet.80:188-192(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS SRXY1 ARG-64 AND VAL-67
    43. 43.
      "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."
      Domenice S. , Nishi M.Y. , Billerbeck A.E.C. , Latronico A.C. , Medeiros M.A. , Russell A.J. , Vass K. , Carvalho F.M. , Costa-Frade E.M. , Arnhold I.J.P. , Mendonca B.B.
      Hum. Genet.102:213-215(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SRXY1 ASN-18
    44. 44.
      "Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis."
      Doerk T. , Stuhrmann M. , Miller K. , Schmidtke J.
      Hum. Mutat.11:90-91(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SRXY1 MET-90
    45. 45.
      "A rare case of 46,XX true hermaphroditism with hidden mosaicism with sex-determining region Y chromosome-bearing cells in the gonads."
      Inoue H. , Nomura M. , Yanase T. , Ichino I. , Goto K. , Ikuyama S. , Takayanagi R. , Nawata H.
      Intern. Med.37:467-471(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN SRXX1
    46. 46.
      "A novel sex-determining region on Y (SRY) missense mutation identified in a 46,XY female and also in the father."
      Imai A. , Takagi A. , Tamaya T.
      Endocr. J.46:735-739(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SRXY1 SER-76
    47. 47.
      "Another mutation within the HMG-box of the SRY gene associated with Swyer syndrome."
      Jakubiczka S. , Bettecken T. , Stumm M. , Neulen J. , Wieacker P.
      Hum. Mutat.13:85-85(1999)
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SRXY1 ARG-108
    48. 48.
      "SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite."
      Margarit E. , Coll M.D. , Oliva R. , Gomez D. , Soler A. , Ballesta F.
      Am. J. Med. Genet.90:25-28(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN SRXX1
    49. 49.
      "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."
      Schaeffler A. , Barth N. , Winkler K. , Zietz B. , Ruemmele P. , Knuechel R. , Schoelmerich J. , Palitzsch K.-D.
      J. Clin. Endocrinol. Metab.85:2287-2292(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SRXY1 GLU-95
    50. 50.
      "A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism."
      Canto P. , de la Chesnaye E. , Lopez M. , Cervantes A. , Chavez B. , Vilchis F. , Reyes E. , Ulloa-Aguirre A. , Kofman-Alfaro S. , Mendez J.P.
      J. Clin. Endocrinol. Metab.85:1908-1911(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SRXY1 ASN-18
    51. 51.
      "A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal."
      Okuhara K. , Tajima T. , Nakae J. , Fujieda K.
      J. Hum. Genet.45:112-114(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SRXY1 TYR-87
    52. 52.
      "Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father."
      Jordan B.K. , Jain M. , Natarajan S. , Frasier S.D. , Vilain E.
      J. Clin. Endocrinol. Metab.87:3428-3432(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SRXY1 PHE-127
    53. 53.
      "True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene."
      Maier E.M. , Leitner C. , Lohrs U. , Kuhnle U.
      J. Pediatr. Endocrinol. Metab.16:575-580(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SRXY1 MET-90
    54. 54.
      "Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis."
      Gimelli G. , Gimelli S. , Dimasi N. , Bocciardi R. , Battista E.D. , Pramparo T. , Zuffardi O.
      Eur. J. Hum. Genet.15:76-80(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SRXY1 LEU-3
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