TSPY

Summary

Gene Symbol: TSPY
Description: testis specific protein Y-linked 1
Alias: CT78, DYS14, TSPY, pJA923, testis-specific Y-encoded protein 1, cancer/testis antigen 78, testis specific protein, Y-linked
Species: human
Products:     TSPY

Top Publications

  1. Arnemann J, Jakubiczka S, Thüring S, Schmidtke J. Cloning and sequence analysis of a human Y-chromosome-derived, testicular cDNA, TSPY. Genomics. 1991;11:108-14 pubmed
    ..Using this probe we have now isolated the cDNA sequence pJA923 from a human testis cDNA library...
  2. Krick R, Aschrafi A, Hasgün D, Arnemann J. CK2-dependent C-terminal phosphorylation at T300 directs the nuclear transport of TSPY protein. Biochem Biophys Res Commun. 2006;341:343-50 pubmed
    b>TSPY (testis-specific protein, Y-encoded) is a member of the greater SET/NAP family of molecules with various functions, e.g...
  3. Lau Y, Chou P, Iezzoni J, Alonzo J, Komuves L. Expression of a candidate gene for the gonadoblastoma locus in gonadoblastoma and testicular seminoma. Cytogenet Cell Genet. 2000;91:160-4 pubmed
    ..To evaluate the candidacy of one of these five genes, testis-specific protein Y-encoded (TSPY), as the gene for GBY, expression patterns of TSPY in four gonadoblastoma from three patients were analyzed by ..
  4. Lau Y. Gonadoblastoma, testicular and prostate cancers, and the TSPY gene. Am J Hum Genet. 1999;64:921-7 pubmed
  5. Kersemaekers A, Honecker F, Stoop H, Cools M, Molier M, Wolffenbuttel K, et al. Identification of germ cells at risk for neoplastic transformation in gonadoblastoma: an immunohistochemical study for OCT3/4 and TSPY. Hum Pathol. 2005;36:512-21 pubmed
    ..In this process, part of the Y chromosome (GBY region) is involved, for which TSPY is a candidate gene...
  6. Oram S, Liu X, Lee T, Chan W, Lau Y. TSPY potentiates cell proliferation and tumorigenesis by promoting cell cycle progression in HeLa and NIH3T3 cells. BMC Cancer. 2006;6:154 pubmed
    b>TSPY is a repeated gene mapped to the critical region harboring the gonadoblastoma locus on the Y chromosome (GBY), the only oncogenic locus on this male-specific chromosome...
  7. Krick R, Jakubiczka S, Arnemann J. Expression, alternative splicing and haplotype analysis of transcribed testis specific protein (TSPY) genes. Gene. 2003;302:11-9 pubmed
    Testis specific protein (TSPY) is a human Y-chromosome derived gene with numerous functional and non-functional copies...
  8. Dechend F, Williams G, Skawran B, Schubert S, Krawczak M, Tyler Smith C, et al. TSPY variants in six loci on the human Y chromosome. Cytogenet Cell Genet. 2000;91:67-71 pubmed
    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...
  9. Ratti A, Stuppia L, Gatta V, Fogh I, Calabrese G, Pizzuti A, et al. Characterization of a new TSPY gene family member in Yq (TSPYq1). Cytogenet Cell Genet. 2000;88:159-62 pubmed
    ..TSPYq1, a member of the TSPY multi-copy gene family, was isolated and characterized from a yOX17 cosmid subclone...

More Information

Publications76

  1. Lau Y, Zhang J. Expression analysis of thirty one Y chromosome genes in human prostate cancer. Mol Carcinog. 2000;27:308-21 pubmed
    ..g., ZFY, PRKY, DFFRY, TB4Y, EIF1AY, and UTY) and Y-specific genes (e.g., SRY, TSPY, PRY, and XKRY)...
  2. Kido T, Lau Y. The human Y-encoded testis-specific protein interacts functionally with eukaryotic translation elongation factor eEF1A, a putative oncoprotein. Int J Cancer. 2008;123:1573-85 pubmed publisher
    Testis-specific protein Y-encoded (TSPY) is the putative gene for the gonadoblastoma locus on the Y chromosome...
  3. Vogel T, Schmidtke J. Structure and function of TSPY, the Y-chromosome gene coding for the "testis-specific protein". Cytogenet Cell Genet. 1998;80:209-13 pubmed
    The TSPY genes are arranged in clusters on the Y chromosome of many mammalian species. TSPY is believed to function in early spermatogenesis and is a candidate for GBY, the putative gonadoblastoma-inducing gene on the Y...
  4. Hertel J, Huettner P, Dehner L, Pfeifer J. The chromosome Y-linked testis-specific protein locus TSPY1 is characteristically present in gonadoblastoma. Hum Pathol. 2010;41:1544-9 pubmed publisher
  5. Schnieders F, Dork T, Arnemann J, Vogel T, Werner M, Schmidtke J. Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues. Hum Mol Genet. 1996;5:1801-7 pubmed
    b>TSPY, the 'testis-specific protein, Y-encoded', is the product of a tandem gene cluster on human proximal Yp...
  6. Svacinova V, Vodicka R, Vrtel R, Godava M, Kvapilova M, Krejcirikova E, et al. Sequence recombination in exon 1 of the TSPY gene in men with impaired fertility. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2011;155:287-98 pubmed publisher
    The aim of this study was to evaluate TSPY (testis specific protein on the Y chromosome) gene and 5'UTR (UnTranslated Region) polymorphisms in men with impaired fertility compared to fertile controls...
  7. Lau Y, Lau H, Kömüves L. Expression pattern of a gonadoblastoma candidate gene suggests a role of the Y chromosome in prostate cancer. Cytogenet Genome Res. 2003;101:250-60 pubmed
    ..Recently a candidate gene, the testis-specific protein Y-encoded (TSPY) that resides on the GBY critical region, has been demonstrated to express preferentially in tumor cells in ..
  8. Kido T, Lau Y. A Cre gene directed by a human TSPY promoter is specific for germ cells and neurons. Genesis. 2005;42:263-75 pubmed
    The testis-specific protein Y-encoded (TSPY) gene is a candidate for the gonadoblastoma locus on the Y chromosome and is expressed in normal testicular germ cells and gonadoblastoma cells of XY sex-reversed females...
  9. Zhang J, Yang Feng T, Muller U, Mohandas T, de Jong P, Lau Y. Molecular isolation and characterization of an expressed gene from the human Y chromosome. Hum Mol Genet. 1992;1:717-26 pubmed
    ..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...
  10. Lau Y, Li Y, Kido T. Role of the Y-located putative gonadoblastoma gene in human spermatogenesis. Syst Biol Reprod Med. 2011;57:27-34 pubmed publisher
    ..The testis-specific protein Y-linked (TSPY) repeat gene has recently been demonstrated to be the putative gene for GBY, based on its location on the GBY ..
  11. Shen Y, Tu W, Liu Y, Yang X, Dong Q, Yang B, et al. TSPY1 suppresses USP7-mediated p53 function and promotes spermatogonial proliferation. Cell Death Dis. 2018;9:542 pubmed publisher
    ..Here we observed that TSPY1, as an interacting partner of TSPY-like 5 (TSPYL5), enhanced the competitive binding of TSPYL5 to ubiquitin-specific peptidase 7 (USP7) in conjunction ..
  12. Herrera C, Morikawa M, Castex C, Pinto M, Ortega N, Fanti T, et al. Blastocele fluid from in vitro- and in vivo-produced equine embryos contains nuclear DNA. Theriogenology. 2015;83:415-20 pubmed publisher
    ..DNA could be used to diagnose the sex of the embryos by conventional PCR, using specific primers that target the TSPY and AMEL equine genes...
  13. Yasmin L, Takano J, Nagai Y, Otsuki J, Sankai T. Detection and quantification of male-specific fetal DNA in the serum of pregnant cynomolgus monkeys (Macaca fascicularis). Comp Med. 2015;65:70-6 pubmed
    ..The presence of SRY gene and DYS14 Y chromosomal sequences was determined in 28 monkeys with male-bearing pregnancies...
  14. Magni M, Buscemi G, Maita L, Peng L, Chan S, Montecucco A, et al. TSPYL2 is a novel regulator of SIRT1 and p300 activity in response to DNA damage. Cell Death Differ. 2019;26:918-931 pubmed publisher
    ..Here we identify the nucleosome assembly protein TSPY-Like 2 (TSPYL2, also known as TSPX, DENTT, and CDA1) as a novel regulator of SIRT1 and p300 function...
  15. Ulbright T, Young R. Gonadoblastoma and selected other aspects of gonadal pathology in young patients with disorders of sex development. Semin Diagn Pathol. 2014;31:427-40 pubmed publisher
    ..If the gonad having germ cells with delayed maturation also harbors the TSPY gene on the GBY locus of the Y chromosome, the cells may undergo neoplastic transformation and result in the ..
  16. Wei W, Fitzgerald T, Fitzgerald T, Ayub Q, Massaia A, Smith B, et al. Copy number variation in the human Y chromosome in the UK population. Hum Genet. 2015;134:789-800 pubmed publisher
    ..duplication encompassing the AMELY and TBL1Y genes that probably has no phenotypic effect, partial deletions of the TSPY cluster and AZFc region that may influence spermatogenesis, and other variants with unknown functional implications,..
  17. Ye D, Zaidi A, Tomaszkiewicz M, Anthony K, Liebowitz C, DeGiorgio M, et al. High Levels of Copy Number Variation of Ampliconic Genes across Major Human Y Haplogroups. Genome Biol Evol. 2018;10:1333-1350 pubmed publisher
    ..Overall, only two gene families (RBMY and TSPY) showed significant differences in copy number among major Y haplogroups, and the haplogroup of a male could not be ..
  18. Krausz C, Casamonti E. Spermatogenic failure and the Y chromosome. Hum Genet. 2017;136:637-655 pubmed publisher
    ..This review is aimed at providing an overview of the role of Y chromosome-linked genes, CNVs, and Y background in spermatogenesis. ..
  19. Thurik F, Ait Soussan A, Bossers B, Woortmeijer H, Veldhuisen B, Page Christiaens G, et al. Analysis of false-positive results of fetal RHD typing in a national screening program reveals vanishing twins as potential cause for discrepancy. Prenat Diagn. 2015;35:754-60 pubmed publisher
    ..Not only RHD but also Y-chromosome (DYS14) sequences were present in four plasma samples from RHD-negative women bearing an RHD-negative girl...
  20. Jacob R, Saxena R, Verma I. Does Formaldehyde Increase Cell Free DNA in Maternal Plasma Specimens?. Lab Med. 2016;47:286-292 pubmed
    ..b>DYS14 and HBB real time assays were performed to quantify fetal and total circulating cell free DNA from formaldehyde ..
  21. Oluwole O, Mahboubi K, Favetta L, Revay T, Kroetsch T, King W. Highly dynamic temporal changes of TSPY gene copy number in aging bulls. PLoS ONE. 2017;12:e0178558 pubmed publisher
    The Y-chromosomal TSPY gene is one of the highest copy number mammalian protein coding gene and represents a unique biological model to study various aspects of genomic copy number variations...
  22. Silveri M, Grossi A, Bassani F, Orazi C, Camassei F, Zaccara A. Ullrich-Turner Syndrome and Tumor Risk: Is There Another Chance to Early Gonadectomy in Positive TSPY and SRY Patients?. Eur J Pediatr Surg. 2016;26:273-6 pubmed publisher
  23. Yasmin L, Takano J, Sankai T. Effective use of the TSPY gene-specific copy number in determining fetal DNA in the maternal blood of cynomolgus monkeys. Anim Sci J. 2016;87:1034-40 pubmed publisher
    ..We used the TaqMan qPCR amplification for DYS14 multi-copy sequence and the SRY gene in maternal blood plasma (cell-free DNA) and fractional precipitated blood ..
  24. Jolis T, Brucker B, Schorl C, Butera J, Quesenberry P. Low microchimeric cell density in tumors suggests alternative antineoplastic mechanism. Med Oncol. 2017;34:65 pubmed publisher
    ..This rate of 4.9% microchimerism is the lowest reported in any study. The low percentage of microchimerism observed in our broad study suggests that microchimeric cells do not invade tumors to fight off neoplasm. ..
  25. Neuhaus N, Yoon J, Terwort N, Kliesch S, Seggewiss J, Huge A, et al. Single-cell gene expression analysis reveals diversity among human spermatogonia. Mol Hum Reprod. 2017;23:79-90 pubmed publisher
    ..The authors declare that there is no conflict of interest. ..
  26. Kido T, Lau Y. Identification of a TSPY co-expression network associated with DNA hypomethylation and tumor gene expression in somatic cancers. J Genet Genomics. 2016;43:577-585 pubmed publisher
    Testis specific protein Y-encoded (TSPY) is a Y-located proto-oncogene predominantly expressed in normal male germ cells and various types of germ cell tumor...
  27. Murata C, Kuroki Y, Imoto I, Kuroiwa A. Ancestral Y-linked genes were maintained by translocation to the X and Y chromosomes fused to an autosomal pair in the Okinawa spiny rat Tokudaia muenninki. Chromosome Res. 2016;24:407-19 pubmed publisher
    ..Using RNA-seq and RT-PCR, we found that ZFY, EIF2S3Y, TSPY, UTY, DDX3Y, USP9Y, and RBMY, but not UBA1Y, had high deduced amino acid sequence similarity and similar expression ..
  28. de Marqui A, da Silva Grecco R, Balarin M. [Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome]. Rev Paul Pediatr. 2016;34:114-21 pubmed publisher
    ..6 to 60%; 3-the most frequently investigated genes were SRY, DYZ3 and TSPY; 4-seven studies used only PCR, while in the remaining seven it was associated with FISH...
  29. AbdelHalim R, Ramadan D, Zeyada R, Nasr A, Mandour I. Circulating Maternal Total Cell-Free DNA, Cell-Free Fetal DNA and Soluble Endoglin Levels in Preeclampsia: Predictors of Adverse Fetal Outcome? A Cohort Study. Mol Diagn Ther. 2016;20:135-49 pubmed publisher
  30. Sillence K, Roberts L, Hollands H, Thompson H, Kiernan M, Madgett T, et al. Fetal Sex and RHD Genotyping with Digital PCR Demonstrates Greater Sensitivity than Real-time PCR. Clin Chem. 2015;61:1399-407 pubmed publisher
    ..Use of dPCR for identification of fetal specific markers can reduce the occurrence of false-negative and inconclusive results, particularly when samples express high levels of background maternal cell-free DNA. ..
  31. Quach A, Oluwole O, King W, Revay T. The Porcine TSPY Gene Is Tricopy but Not a Copy Number Variant. PLoS ONE. 2015;10:e0131745 pubmed publisher
    The testis-specific protein Y-encoded (TSPY) gene is situated on the mammalian Y-chromosome and exhibits some remarkable biological characteristics...
  32. Thurik F, Lamain de Ruiter M, Javadi A, Kwee A, Woortmeijer H, Page Christiaens G, et al. Absolute first trimester cell-free DNA levels and their associations with adverse pregnancy outcomes. Prenat Diagn. 2016;36:1104-1111 pubmed publisher
    ..CfpDNA levels were quantified in male-bearing pregnancies using real-time DYS14-PCRs on DNA isolated from maternal serum...
  33. Vogel T, Dittrich O, Mehraein Y, Dechend F, Schnieders F, Schmidtke J. Murine and human TSPYL genes: novel members of the TSPY-SET-NAP1L1 family. Cytogenet Cell Genet. 1998;81:265-70 pubmed
    Using expressed sequence tag (EST) sequence information, novel genes related to the Y chromosome gene family TSPY were isolated and characterized...
  34. Nickkholgh B, Noordam M, Hovingh S, van Pelt A, van der Veen F, Repping S. Y chromosome TSPY copy numbers and semen quality. Fertil Steril. 2010;94:1744-7 pubmed publisher
    To determine whether variation in testis-specific protein Y-encoded (TSPY) gene copy number affects semen quality. Nested case-control study. University hospital...
  35. Rojek A, Obara Moszynska M, Kolesinska Z, Rabska Pietrzak B, Niedziela M. Molecular Detection and Incidence of Y Chromosomal Material in Patients with Turner Syndrome. Sex Dev. 2017;: pubmed publisher
    ..of Y chromosome-derived material in TS patients using PCR and the markers SRY, DYZ1, DYZ3, DYS132, ZFY, and TSPY. Fifty-five TS patients (aged 5.5-26.75 years) were analyzed. A total of 17/55 (30...
  36. Li Y, Lau Y. TSPY and its X-encoded homologue interact with cyclin B but exert contrasting functions on cyclin-dependent kinase 1 activities. Oncogene. 2008;27:6141-50 pubmed publisher
    Testis-specific protein Y-encoded (TSPY) is the putative gene for the gonadoblastoma locus on the Y chromosome (GBY). TSPY and an X-homologue, TSPX, harbor a conserved domain, designated as SET/NAP domain, but differ at their C termini...
  37. Kido T, Lau Y. The Y-located gonadoblastoma gene TSPY amplifies its own expression through a positive feedback loop in prostate cancer cells. Biochem Biophys Res Commun. 2014;446:206-11 pubmed publisher
    The testis-specific protein Y-encoded (TSPY) is a repetitive gene located on the gonadoblastoma region of the Y chromosome, and has been considered to be the putative gene for this oncogenic locus on the male-only chromosome...
  38. Li Y, Tabatabai Z, Lee T, Hatakeyama S, Ohyama C, Chan W, et al. The Y-encoded TSPY protein: a significant marker potentially plays a role in the pathogenesis of testicular germ cell tumors. Hum Pathol. 2007;38:1470-81 pubmed
    The testis-specific protein Y-encoded (TSPY) gene is the putative gene for the gonadoblastoma locus on the Y chromosome (GBY) that predisposes dysgenetic gonads of intersex patients to gonadoblastoma development...
  39. Kido T, Lau Y. The rat Tspy is preferentially expressed in elongated spermatids and interacts with the core histones. Biochem Biophys Res Commun. 2006;350:56-67 pubmed
    The testis specific protein Y encoded (TSPY) gene is a tandemly repeated gene on the mammalian Y chromosome...
  40. Vijayakumar S, Hall D, Reveles X, Troyer D, Thompson I, Garcia D, et al. Detection of recurrent copy number loss at Yp11.2 involving TSPY gene cluster in prostate cancer using array-based comparative genomic hybridization. Cancer Res. 2006;66:4055-64 pubmed
    ..The most prominent observation on prostate cancer specimens was a deletion at Yp11.2 containing the TSPY tandem gene array. Out of 36 primary prostate tumors analyzed, 16 (44...
  41. Gole L, Crolla J, Thomas S, Jacobs P, Dennis N. Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12). Am J Med Genet A. 2004;125A:177-80 pubmed
    ..2;q12) is segregating. 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...
  42. Spoor J, Oosterhuis J, Hersmus R, Biermann K, Wolffenbuttel K, Cools M, et al. Histological Assessment of Gonads in DSD: Relevance for Clinical Management. Sex Dev. 2018;12:106-122 pubmed publisher
    ..of choice to assess the risk, and with the availability of immunohistochemical biomarkers [OCT3/4 (POU5F1), TSPY, SOX9, FOXL2 and KITLG (SCF)], a reliable classification of GCC and its precursors can be made...
  43. Jacob R, Saxena R, Verma I. Noninvasive Diagnosis of Fetal Gender: Utility of Combining DYS14 and SRY. Genet Test Mol Biomarkers. 2015;19:505-11 pubmed publisher
    ..The aim of this study was to compare two Y chromosome markers-SRY and DYS14-for their utility in the diagnosis of fetal gender...
  44. Guttenbach M, Muller U, Schmid M. A human moderately repeated Y-specific DNA sequence is evolutionarily conserved in the Y chromosome of the great apes. Genomics. 1992;13:363-7 pubmed
    ..In light of its evolutionary conservation, DYZ5 may have an as yet undetermined structural function in the Y chromosome. ..
  45. Arnemann J, Epplen J, Cooke H, Sauermann U, Engel W, Schmidtke J. A human Y-chromosomal DNA sequence expressed in testicular tissue. Nucleic Acids Res. 1987;15:8713-24 pubmed
    Clone pJA36B (DYS14) was isolated from a human Y chromosome enriched cosmid library. Southern blot analysis revealed a male-specific hybridization pattern...
  46. Chandley A, Cooke H. Human male fertility--Y-linked genes and spermatogenesis. Hum Mol Genet. 1994;3 Spec No:1449-52 pubmed
    ..Similar patterns of hybridization are seen for a second gene family, TSPY, clustered mainly on the short arm of the human Y chromosome...
  47. Manz E, Schnieders F, Brechlin A, Schmidtke J. TSPY-related sequences represent a microheterogeneous gene family organized as constitutive elements in DYZ5 tandem repeat units on the human Y chromosome. Genomics. 1993;17:726-31 pubmed
    b>TSPY (testis-specific protein, Y-encoded) is encoded by members of a Y-chromosome-specific sequence family. We show here that TSPY elements are part of the DYZ5 repeat unit...
  48. Schubert S, Skawran B, Dechend F, Nayernia K, Meinhardt A, Nanda I, et al. Generation and characterization of a transgenic mouse with a functional human TSPY. Biol Reprod. 2003;69:968-75 pubmed
    ..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...
  49. Lardone M, Parodi D, Valdevenito R, Ebensperger M, Piottante A, Madariaga M, et al. Quantification of DDX3Y, RBMY1, DAZ and TSPY mRNAs in testes of patients with severe impairment of spermatogenesis. Mol Hum Reprod. 2007;13:705-12 pubmed
    ..This study investigated the expression level of AZF genes, DDX3Y (DBY), RBMY1, DAZ and TSPY in testicular tissues of 42 subjects with impaired spermatogenesis compared with 33 with normal spermatogenesis...
  50. Vodicka R, Vrtel R, Dusek L, Singh A, Krizova K, Svacinova V, et al. TSPY gene copy number as a potential new risk factor for male infertility. Reprod Biomed Online. 2007;14:579-87 pubmed
    The human TSPY (testis-specific protein, Y-linked) gene family (30-60 copies) is situated in the MSY (male-specific) region of the Y chromosome. Testis-specific expression indicates that the gene plays a role in spermatogenesis...
  51. Skawran B, Schubert S, Dechend F, Vervoorts J, Nayernia K, Luscher B, et al. Characterization of a human TSPY promoter. Mol Cell Biochem. 2005;276:159-67 pubmed
    Human TSPY is a candidate oncogene and is supposed to function as a proliferation factor during spermatogenesis. It is the only mammalian protein-coding gene known to be organized as a tandem repeat gene family...
  52. Hoei Hansen C, Sehested A, Juhler M, Lau Y, Skakkebaek N, Laursen H, et al. New evidence for the origin of intracranial germ cell tumours from primordial germ cells: expression of pluripotency and cell differentiation markers. J Pathol. 2006;209:25-33 pubmed
    ..TFAP2C), and NANOG) and developmentally regulated germ cell-specific proteins (including MAGE-A4, NY-ESO-1, and TSPY)...
  53. Illanes S, Denbow M, Kailasam C, Finning K, Soothill P. Early detection of cell-free fetal DNA in maternal plasma. Early Hum Dev. 2007;83:563-6 pubmed
    ..Free fetal DNA allows very early prediction of fetal sex in some cases and could be useful for clinical use for X-linked conditions by the end of the first trimester. ..
  54. Kim H, Takenaka O. A comparison of TSPY genes from Y-chromosomal DNA of the great apes and humans: sequence, evolution, and phylogeny. Am J Phys Anthropol. 1996;100:301-9 pubmed
    The genes for testis-specific protein Y (TSPY) were sequenced from chimpanzee (Pan troglodytes), gorilla (Gorilla gorilla), orangutan (Pongo pygmaeus), and baboon (Papio hamadryas)...
  55. Vogt P, Affara N, Davey P, Hammer M, Jobling M, Lau Y, et al. Report of the Third International Workshop on Y Chromosome Mapping 1997. Heidelberg, Germany, April 13-16, 1997. Cytogenet Cell Genet. 1997;79:1-20 pubmed
  56. Plevraki E, Kita M, Goulis D, Hatzisevastou Loukidou H, Lambropoulos A, Avramides A. Bilateral ovarian agenesis and the presence of the testis-specific protein 1-Y-linked gene: two new features of Mayer-Rokitansky-Küster-Hauser syndrome. Fertil Steril. 2004;81:689-92 pubmed
    ..Although PCR was negative, nested PCR revealed the testis specific protein 1-Y-linked (TSPY) gene in two women. Skeletal and renal malformations may be present in both MRKH subtypes...
  57. Li Y, Zhang D, Qiu Y, Kido T, Lau Y. The Y-located proto-oncogene TSPY exacerbates and its X-homologue TSPX inhibits transactivation functions of androgen receptor and its constitutively active variants. Hum Mol Genet. 2017;26:901-912 pubmed publisher
    The gonadoblastoma gene, testis-specific protein Y-encoded (TSPY), on the Y chromosome and its X-homologue, TSPX, are cell cycle regulators and function as a proto-oncogene and a tumor suppressor respectively in human oncogenesis...
  58. Shen Y, Liu Y, Yang Y. [Research progress of TSPY1 gene family]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014;31:600-3 pubmed publisher
    ..In this review, the structure characteristics of the gene family were illustrated, and the functional studies of TSPY1 in the process of tumorigenesis and spermatogenesis were discussed. ..
  59. Shen Y, Yan Y, Liu Y, Zhang S, Yang D, Zhang P, et al. A significant effect of the TSPY1 copy number on spermatogenesis efficiency and the phenotypic expression of the gr/gr deletion. Hum Mol Genet. 2013;22:1679-95 pubmed publisher
    ..A combined genetic analysis of the TSPY1 copy number and the gr/gr deletion could inform the clinical counselling of infertile couples. ..
  60. Kido T, Lo R, Li Y, Lee J, Tabatabai Z, Ng I, et al. The potential contributions of a Y-located protooncogene and its X homologue in sexual dimorphisms in hepatocellular carcinoma. Hum Pathol. 2014;45:1847-58 pubmed publisher
    ..Previous studies showed that overexpression of the Y-located protooncogene, testis-specific protein Y encoded (TSPY), promotes cell proliferation and oncogenesis whereas its X-located homologue, TSPYhomologue X (TSPX), retards cell ..
  61. Sandbacka M, Painter J, Puhakka M, Halttunen M, Laivuori H, Aittomaki K. Does the Y chromosome have a role in Müllerian aplasia?. Fertil Steril. 2010;94:120-5 pubmed publisher
    ..Our results indicate that the studied Y-specific fragments, namely TSPY1 and 38 Y chromosomal markers, are not responsible for the syndrome in these Finnish patients with Müllerian aplasia. ..
  62. Puffenberger E, Hu Lince D, Parod J, Craig D, Dobrin S, Conway A, et al. Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. Proc Natl Acad Sci U S A. 2004;101:11689-94 pubmed
    ..These results shed light on the pathogenesis of a disorder of sexual differentiation and brainstem-mediated sudden death, as well as give insight into a mechanism of transcriptional regulation...
  63. Hromadnikova I, Benesova M, Zejskova L, Stehnova J, Doucha J, Sedlacek P, et al. The effect of DYS-14 copy number variations on extracellular fetal DNA quantification in maternal circulation. DNA Cell Biol. 2009;28:351-8 pubmed publisher
    ..We concluded that, regarding interindividual copy number variations, the DYS-14 sequence is not an optimal marker for extracellular fetal DNA quantification for differentiation between normal and complicated pregnancies. ..
  64. Giachini C, Nuti F, Turner D, Laface I, Xue Y, Daguin F, et al. TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages. J Clin Endocrinol Metab. 2009;94:4016-22 pubmed publisher
    ..001); and 3) a 1.5-fold increased risk of abnormal sperm parameters in men with less than 33 copies (P < 0.001). TSPY copy number variation significantly influences spermatogenic efficiency...
  65. Bianco B, Oliveira K, Guedes A, Barbosa C, Lipay M, Verreschi I. OCT4 gonadal gene expression related to the presence of Y-chromosome sequences in Turner syndrome. Fertil Steril. 2010;94:2347-9 pubmed publisher
    ..no significant difference was found regarding the expression of the genes DAX1, FOG2, GATA4, OCT4, SF1, SRY, TSPY, WT1, and STRA8 compared with controls, except for genes OCT4, SRY, and TSPY in both gonads of a patient whose ..
  66. Kido T, Schubert S, Schmidtke J, Chris Lau Y. Expression of the human TSPY gene in the brains of transgenic mice suggests a potential role of this Y chromosome gene in neural functions. J Genet Genomics. 2011;38:181-91 pubmed publisher
    The testis specific protein Y-encoded (TSPY) is a member of TSPY/SET/NAP1 superfamily, encoded within the gonadoblastoma locus on the Y chromosome...
  67. Li S, Mo C, Huang S, Yang S, Lu Y, Peng Q, et al. Over-expressed Testis-specific Protein Y-encoded 1 as a novel biomarker for male hepatocellular carcinoma. PLoS ONE. 2014;9:e89219 pubmed publisher
    ..TSPY1 up- or down-regulation could lead to a high or low level expression of AR. These results implied that TSPY1 may be included in the regulation of AR expression involved in male HCC and it may act as a novel biomarker for male HCC. ..