The possible effect of the copy number of TSPY genes on spermatogenesis may explain indiscrete pathological alterations of spermatid quality and quantity. TSPY could be a catalyst/meiotic factor essential for augmenting the activities of cyclin B-cyclin dependent kinases, important for the differentiation of the spermatocytes in prophase I and in preparation for consecutive rounds of meiotic divisions without an intermediate interphase during spermatogenesis.
The information of related literatures
1. Y. F. Lau, Y. Li and T. Kido (2011) Role of the Y-located putative gonadoblastoma gene in human spermatogenesis. Syst Biol Reprod Med 57(1-2): 27-34.
Abstract The gonadoblastoma locus on the human Y chromosome (GBY) is postulated to serve normal functions in spermatogenesis, but could exert oncogenic properties in predisposing susceptible germ cells to tumorigenesis in incompatible niches such as streaked gonads in XY sex reversed patients or dysfunctional testis in males. 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 critical region, expression patterns in early and late stages of gonadoblastoma and ability to induce gonadoblastoma-like structures in the ovaries of transgenic female mice. Over-expression of TSPY accelerates G(2)/M progression in the cell cycle by enhancing the mitotic cyclin B-CDK1 kinase activities. Currently the normal functions of TSPY in spermatogenesis are uncertain. Expression studies of TSPY, and its X-homologue, TSPX, in normal human testis suggest that TSPY is co-expressed with cyclin B1 in spermatogonia and various stages of spermatocytes while TSPX is principally expressed in Sertoli cells in the human testis. The co-expression pattern of TSPY and cyclin B1 in spermatogonia and spermatocytes suggest respectively that 1) TSPY is important for male spermatogonial cell replication and renewal in the testis; and 2) TSPY could be a catalyst/meiotic factor essential for augmenting the activities of cyclin B-cyclin dependent kinases, important for the differentiation of the spermatocytes in prophase I and in preparation for consecutive rounds of meiotic divisions without an intermediate interphase during spermatogenesis. PMID: [21204751]
2. R. Vodicka, R. Vrtel, L. Dusek, A. R. Singh, K. Krizova, V. Svacinova, V. Horinova, J. Dostal, I. Oborna, J. Brezinova, A. Sobek and J. Santavy (2007) TSPY gene copy number as a potential new risk factor for male infertility. Reprod Biomed Online 14(5): 579-87.
Abstract 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. Refined quantitative fluorescence PCR (polymerase chain reaction) was applied to evaluate the relative number of TSPY copies compared with AMELY/X (amelogenin gene, Y-linked) genes in 84 stratified infertile men and in 40 controls. A significantly higher number of TSPY copies was found in infertile men compared with the controls (P = 0.002). The diagnostic discrimination potential of the relative number of TSPY copies was evaluated by receiver operating characteristic curve analysis. TSPY/AMELY was unambiguously found to be powerful in the diagnostic separation of both the control samples and the infertile men, reaching a good level of specificity (0.642) and sensitivity (0.732) at a cut-off point of 0.46. The findings were supported by independently repeated studies of randomly selected positive samples and controls. Evaluation of the TSPY copy number offers a completely new diagnostic approach in relation to the genetic cause of male infertility. The possible effect of the copy number of TSPY genes on spermatogenesis may explain indiscrete pathological alterations of spermatid quality and quantity. PMID: [17509197]
3. C. Giachini, F. Nuti, D. J. Turner, I. Laface, Y. Xue, F. Daguin, G. Forti, C. Tyler-Smith and C. Krausz (2009) TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages. J Clin Endocrinol Metab 94(10): 4016-22.
Cytoplasm. Nucleus. Note=Predominantlycytoplasmic. Also found in nucleus.
Tissue Specificity
Specifically expressed in testicular tissues.Isoform 1 and isoform 2 are expressed in spermatogonia andspermatocytes. Found in early testicular carcinoma in situ,spermatogonial cells in testicular tissues of 46,X,Y female and inprostate cancer cell lines.
CHAIN 1 308 Testis-specific Y-encoded protein 1. /FTId=PRO_0000185668. VAR_SEQ 275 308 ILCKDLWRNPLQYYKRMKPPEEGTETSGDSQLLS -> SPD RSYVRTCGAIPCNTTRG (in isoform 2). /FTId=VSP_008012. VARIANT 79 79 E -> EVEVVAE. /FTId=VAR_016226. VARIANT 195 195 P -> R. /FTId=VAR_016227. VARIANT 216 216 I -> F. /FTId=VAR_016228. CONFLICT 2 3 RP -> PA (in Ref. 5; X74029). CONFLICT 92 93 RA -> PR (in Ref. 1; AAB51693, 2; AAD47421 and 7; AAA36570). CONFLICT 109 109 P -> L (in Ref. 1; AAB51693, 2; AAD47421, 4; AAI21115 and 7; AAA36570). CONFLICT 190 190 G -> E (in Ref. 1; AAB51693, 2; AAD47421, 4; AAI21115 and 7; AAA36570). Back to Top