Cloning and sequence analysis of a human Y-chromosome-derived, testicular cDNA, TSPY

Arnemann, J.; Jakubiczka, Sibylle; Thüring, Sabine; Schmidtke, Jörg

doi:10.1016/0888-7543(91)90107-p

Cited by 92 publications

(42 citation statements)

References 24 publications

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“…Although this genetic fragment contains a number of genes, the most interesting candidate in the development of GCT is TSPY (Testis Specific Protein on the Y chromosome) (Arnemann et al, 1991). It is a multi-copy gene (Manz et al, 1993), expressed in spermatogonia, CIS and GB (Hildenbrand et al, 1999, Kersemaekers et al, 2005, Ng et al, 2008, Schnieders et al, 1996 It is shown to regulate cell cycle progression, by interacting with cyclin B 1 (Oram et al, 2006).…”

Section: Unique Characteristics Of Testis Specific Protein On the Y Cmentioning

confidence: 99%

Development of malignant germ cells - the genvironmental hypothesis

Looijenga¹,

Agthoven²,

Biermann³

2013

Int. J. Dev. Biol.

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Human germ cell tumors are of interest because of their epidemiology, clinic and pathobiology. Histologically, they are subdivided into various elements, with similarities to embryogenesis. Recent insight triggered development of a higher order division into five types of human germ cell tumors. In the context of male germ cells, only three are relevant; Type I: teratomas and yolk sac tumors of neonates and infants; Type II: seminomas and nonseminomas of (predominantly) adolescents and adults; and Type III: spermatocytic seminomas of the elderly. Various animal models, both occurring spontaneous or induced, are reported, of which their relevance is still a matter of debate. Recent multidisciplinary studies have led to a significant increase in our understanding of the parameters involved in the earliest pathogenetic steps of human germ cells tumors, particularly the seminomas and nonseminomas (Type II). This paper will discuss a number of interesting insights into the normal and aberrant regulation of germ cell development, resulting in the so-called genvironmental hypothesis. This assumes a subtle interaction between environmental-and (epi)genetic parameters, resulting in clinical/phenotypical characteristics. These influence signaling pathways and thereby developmental processes, including gonadal development, germ cell proliferation, maturation and apoptosis. In the case of a disturbed physiology, either due to the germ cell itself, or the micro-environment, embryonic germ cells, during a specific window of sensitization, might be blocked in their maturation, resulting in carcinoma in situ or gonadoblastoma, the precursors of seminomas and nonseminomas. The level of testicularization of the gonad determines the histological composition of the precursor. These insights will allow a better definition of individuals at risk of developing a germ cell malignancy, and allow a better selection of scientific approaches to elucidate the corresponding pathogenesis.

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Section: Unique Characteristics Of Testis Specific Protein On the Y Cmentioning

confidence: 99%

Development of malignant germ cells - the genvironmental hypothesis

Looijenga¹,

Agthoven²,

Biermann³

2013

Int. J. Dev. Biol.

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“…51,52 A number of candidate genes are located in this chromosomal fragment, including TSPY, which stands for testis-specific protein on the Y chromosome. 37,[53][54][55][56] This multicopy gene [57][58][59] is expressed in germ cells. 53 More interesting is the finding that it is present in large amounts in CIS/ITGCNU and gonadoblastoma cells 37 (see Figure 2A); the mechanism for this is unclear so far.…”

Section: The Role Of Oct3/4 and The Y Chromosome In Type-ii Gctsmentioning

confidence: 99%

Tumor risk in disorders of sex development (DSD)

Looijenga¹,

Hersmus²,

Oosterhuis

et al. 2007

Best Practice & Research Clinical Endocrinology & Metab

194

139

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Disorders of sex development (DSD), previously referred to as intersex disorders, comprise a variety of anomalies defined by congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical. Besides issues such as gender assignment, clinical and diagnostic evaluation, surgical and psychosocial management, and sex steroid replacement, the significantly increased risk for developing specific types of malignancies is both clinically and biologically relevant. This relates to germ-cell tumors specifically in DSD patients with hypovirilization or gonadal dysgenesis. The presence of a well-defined part of the Y chromosome (known as the GBY region) is a prerequisite for malignant transformation, for which the testis-specific protein on the Y chromosome (TSPY ) is a likely candidate gene. The precursor lesions of these cancers are carcinoma in situ (CIS)/intratubular germ-cell neoplasia unclassified (ITGCNU) in testicular tissue and gonadoblastoma in those without obvious testicular differentiation. Most recently, undifferentiated gonadal tissue (UGT) has been identified as the likely precursor for gonadoblastoma. The availability of markers for the different developmental stages of germ cells allows detailed investigation of the characteristics of normal and (pre)malignant germ cells. Although informative in a diagnostic setting for adult male patients, these markers -such as OCT3/4 -cannot easily distinguish (pre)malignant germ cells from germ cells showing delayed maturation. This latter phenomenon is frequently found in gonads of DSD patients, and may be related to the risk of malignant transformation. Thus, the mere application of these markers might result in over-diagnosis and unnecessary gonadectomy. It is proposed that morphological and histological evaluation of gonadal tissue, in combination with OCT3/4 and TSPY double immunohistochemistry and clinical parameters, is most informative in estimating the risk for germ-cell tumor development in the individual patient, and might in future be used to develop a decision tree for optimal management of patients with DSD.

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“…Geographical and ethnic variations with respect to various Y chromosomal genes are well known (Santos et al 2000). Some authors have reported a divergence of up to 10% in human TSPY (Arnemann et al 1991;Manz et al 1993). Schnieders et al (1996) had also reported the diversity of human TSPY at the transcript level with at least nine different splice variants.…”

Section: Tspy Genementioning

confidence: 99%

“…This gene family has 20-40 gene copies that vary from individual to individual (Dechend et al 2000). Its prototype coding sequence is 924 bp and a sequence divergence of 10% has been reported in human TSPY sequences (Arnemann et al 1991;Manz et al 1993). The function of TSPY sequences is to integrate TSPY protein into spermatogenesis (Vogel et al 1997) and it is involved in the proliferation of germ cells (Schnieders et al 1996).…”

Section: Introductionmentioning

confidence: 99%

Comparative Study of AZF Deletions and TSPY Gene Variation in Czech and Indian Infertile Men

Singh

Vrtěl

Vodička

et al. 2006

International Journal of Human Genetics

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The human Y chromosome harbours genes that are essential for spermatogenesis. Most of these genes lie in the male-specific region (MSY) of Y chromosome. Microdeletions of AZF within the MSY have been reported in infertile men. Widely different frequencies of such deletions (0-55%) have been reported from different populations. TSPY is another gene located in the MSY region that plays a significant role in spermatogenesis. It is a multi-copy gene but the role its gene copy numbers play in infertility is not yet evaluated. The present study was undertaken on infertile men from Czech Republic and India to ascertain the relative and comparative role of AZF deletions and of TSPY copy numbers.

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Cloning and sequence analysis of a human Y-chromosome-derived, testicular cDNA, TSPY

Cited by 92 publications

References 24 publications

Development of malignant germ cells - the genvironmental hypothesis

Development of malignant germ cells - the genvironmental hypothesis

Tumor risk in disorders of sex development (DSD)

Comparative Study of AZF Deletions and TSPY Gene Variation in Czech and Indian Infertile Men

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