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Gene Review

TSPY1  -  testis specific protein, Y-linked 1

Homo sapiens

Synonyms: CT78, Cancer/testis antigen 78, DYS14, TSPY, Testis-specific Y-encoded protein 1, ...
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Disease relevance of TSPY1


High impact information on TSPY1

  • RBM1, but not DAZ or TSPY, has a Y-linked homologue in marsupials which is transcribed in the testis [6].
  • The data presented here point to a phosphorylation-dependent TSPY-function in early spermatogenesis, immediately prior to the spermatogonia-to-spermatocyte transition, and in early testicular tumorigenesis [2].
  • TSPY, the 'testis-specific protein, Y-encoded', is the product of a tandem gene cluster on human proximal Yp [2].
  • In order to gain insight into the function of this locus, we have analysed (I) the diversity of RNAs transcribed from the cluster, (II) the sequence homology of the deduced TSPY to other proteins, and (iii) its protein properties both in tissue extracts and in tissue sections, using a TSPY-specific antiserum [2].
  • We show that TSPY has homology with other human and non-human proteins, including SET and NAP, factors that are suggested to play a role in DNA replication [2].

Biological context of TSPY1


Anatomical context of TSPY1

  • The Y-231 gene shares very high (97%) identity at the DNA level to a previously described Y-specific gene, testis specific protein Y-encoded (TSPY) gene, suggesting the possibility that these two genes are related, if not identical [11].
  • We have established a cosmid library of Y-chromosomal DNA derived from the hybrid cell line 3E7 and isolated eight cosmids representing 15 TSPY elements [12].
  • The present observations suggest that TSPY may either be involved in the oncogenesis of or be a useful marker for both types of germ cell tumors [5].
  • To characterize the human TSPY promoter we used the luciferase reporter system in a mouse spermatogonia derived cell line (GC-1 spg) and in a GC-4 spc cell line, that harbour prophase spermatocytes of the preleptotene and early pachytene stage [13].
  • To study the TSPY protein expression, an anti-fusion protein antibody was used for immunohistochemistry of the patient's gonads [14].

Regulatory relationships of TSPY1

  • The Y chromosome breakpoint disrupts the DYZ5 sequence containing the TSPY genes that are exclusively expressed in the testes while the chromosome 15 breakpoint is within the GABRG3 gene [15].

Other interactions of TSPY1

  • Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12) [15].
  • DENTT contains a conserved 191-residue domain that shows significant identity to, and defines, the TSPY/TSPY-like/SET/NAP-1 superfamily [3].
  • The levels of cfDNA obtained from the first trimester of pregnancy could be quantified with high precision by the DYS14 assay (CV below 25%) as opposed to the SRY measurements (26-140%) [16].
  • We optimized a protocol for the qPCR analysis of the multi-copy sequence DYS14 on the Y chromosome [16].
  • We have investigated the use of a nested polymerase chain reaction assay for the detection of a fetal-specific Y-chromosomal sequence (DYS14) from DNA extracted from unsorted maternal peripheral blood [17].

Analytical, diagnostic and therapeutic context of TSPY1

  • Fluorescence in situ hybridization and Southern analyses show that approximately 50 copies of the human TSPY transgene are integrated at a single chromosomal site that maps to the distal long arm of the Y chromosome [7].
  • To generate an animal model that is suitable for the analysis of regulation and expression of human testis-specific protein, Y-encoded TSPY, a transgenic mouse line, TgTSPY9, harboring a complete structural human TSPY gene was generated [7].
  • Cloning and sequence analysis of a human Y-chromosome-derived, testicular cDNA, TSPY [18].
  • Although PCR was negative, nested PCR revealed the testis specific protein 1-Y-linked (TSPY) gene in two women [19].
  • We have studied the structure, organization, and evolution of the human TSPY gene family by mapping three sequence variants identified through RT-PCR analysis onto genomic clones derived from two different YAC contigs [20].


  1. Gonadoblastoma, testicular and prostate cancers, and the TSPY gene. Lau, Y.F. Am. J. Hum. Genet. (1999) [Pubmed]
  2. Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues. Schnieders, F., Dörk, T., Arnemann, J., Vogel, T., Werner, M., Schmidtke, J. Hum. Mol. Genet. (1996) [Pubmed]
  3. Identification of differentially expressed nucleolar TGF-beta1 target (DENTT) in human lung cancer cells that is a new member of the TSPY/SET/NAP-1 superfamily. Ozbun, L.L., You, L., Kiang, S., Angdisen, J., Martinez, A., Jakowlew, S.B. Genomics (2001) [Pubmed]
  4. CK2-dependent C-terminal phosphorylation at T300 directs the nuclear transport of TSPY protein. Krick, R., Aschrafi, A., Hasgün, D., Arnemann, J. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
  5. Expression of a candidate gene for the gonadoblastoma locus in gonadoblastoma and testicular seminoma. Lau, Y., Chou, P., Iezzoni, J., Alonzo, J., Kömüves, L. Cytogenet. Cell Genet. (2000) [Pubmed]
  6. A human candidate spermatogenesis gene, RBM1, is conserved and amplified on the marsupial Y chromosome. Delbridge, M.L., Harry, J.L., Toder, R., O'Neill, R.J., Ma, K., Chandley, A.C., Graves, J.A. Nat. Genet. (1997) [Pubmed]
  7. Generation and characterization of a transgenic mouse with a functional human TSPY. Schubert, S., Skawran, B., Dechend, F., Nayernia, K., Meinhardt, A., Nanda, I., Schmid, M., Engel, W., Schmidtke, J. Biol. Reprod. (2003) [Pubmed]
  8. Murine and human TSPYL genes: novel members of the TSPY-SET-NAP1L1 family. Vogel, T., Dittrich, O., Mehraein, Y., Dechend, F., Schnieders, F., Schmidtke, J. Cytogenet. Cell Genet. (1998) [Pubmed]
  9. A human Y-chromosomal DNA sequence expressed in testicular tissue. Arnemann, J., Epplen, J.T., Cooke, H.J., Sauermann, U., Engel, W., Schmidtke, J. Nucleic Acids Res. (1987) [Pubmed]
  10. Expression, alternative splicing and haplotype analysis of transcribed testis specific protein (TSPY) genes. Krick, R., Jakubiczka, S., Arnemann, J. Gene (2003) [Pubmed]
  11. Molecular isolation and characterization of an expressed gene from the human Y chromosome. Zhang, J.S., Yang-Feng, T.L., Muller, U., Mohandas, T.K., de Jong, P.J., Lau, Y.F. Hum. Mol. Genet. (1992) [Pubmed]
  12. TSPY-related sequences represent a microheterogeneous gene family organized as constitutive elements in DYZ5 tandem repeat units on the human Y chromosome. Manz, E., Schnieders, F., Brechlin, A.M., Schmidtke, J. Genomics (1993) [Pubmed]
  13. Characterization of a human TSPY promoter. Skawran, B., Schubert, S., Dechend, F., Vervoorts, J., Nayernia, K., Lüscher, B., Schmidtke, J. Mol. Cell. Biochem. (2005) [Pubmed]
  14. Detection of TSPY protein in a unilateral microscopic gonadoblastoma of a Turner mosaic patient with a Y-derived marker chromosome. Hildenbrand, R., Schröder, W., Brude, E., Schepler, A., König, R., Stutte, H.J., Arnemann, J. J. Pathol. (1999) [Pubmed]
  15. Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12). Gole, L., Crolla, J.A., Thomas, S.N., Jacobs, P.A., Dennis, N.R. Am. J. Med. Genet. A (2004) [Pubmed]
  16. Optimized real-time quantitative PCR measurement of male fetal DNA in maternal plasma. Zimmermann, B.G., Holzgreve, W., Avent, N., Hahn, S. Ann. N. Y. Acad. Sci. (2006) [Pubmed]
  17. Prenatal sex determination from maternal peripheral blood using the polymerase chain reaction. Lo, Y.M., Patel, P., Baigent, C.N., Gillmer, M.D., Chamberlain, P., Travi, M., Sampietro, M., Wainscoat, J.S., Fleming, K.A. Hum. Genet. (1993) [Pubmed]
  18. Cloning and sequence analysis of a human Y-chromosome-derived, testicular cDNA, TSPY. Arnemann, J., Jakubiczka, S., Thüring, S., Schmidtke, J. Genomics (1991) [Pubmed]
  19. Bilateral ovarian agenesis and the presence of the testis-specific protein 1-Y-linked gene: two new features of Mayer-Rokitansky-Küster-Hauser syndrome. Plevraki, E., Kita, M., Goulis, D.G., Hatzisevastou-Loukidou, H., Lambropoulos, A.F., Avramides, A. Fertil. Steril. (2004) [Pubmed]
  20. TSPY variants in six loci on the human Y chromosome. Dechend, F., Williams, G., Skawran, B., Schubert, S., Krawczak, M., Tyler-Smith, C., Schmidtke, J. Cytogenet. Cell Genet. (2000) [Pubmed]
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