Expression of SpanX proteins in normal testes and in testicular germ cell tumours

Salemi, Michele; Calogero, Aldo E.; Castiglione, Roberto; Tricoli, Dario; Asero, Paola; Rosell, Rosa; Rappazzo, Giancarlo; Vicari, Enzo

doi:10.1111/j.1365-2605.2005.00615.x

Cited by 13 publications

(27 citation statements)

References 21 publications

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“…13 In addition, SPANX-A/D genes expression has recently been shown in testicular germ cells tumors. 6,7 Recently Salemi et al 14 showed the association of a specific gene dosage classes of SPANX-C gene and melanomas. These observations suggested that SPANX-A/D genes, or some of them, may be involved in melanoma development.…”

Section: Introductionmentioning

confidence: 98%

“…Among them, the sperm protein associated with the nucleus in the X chromosome (SPANX) gene family is present. [5][6][7] It includes 2 subfamilies, SPANX-N (SPANX-N1, -N2, -N3, -N4, and -N5) 8 and SPANX-A/D (SPANX-A1/-A2/-B/-C/-D) (human genome build 36.2). The SPANX-N subfamily is the ancestral form, which gave rise to the SPANX-A/D subfamily in the hominoid lineage.…”

Section: Introductionmentioning

confidence: 99%

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A High Percentage of Skin Melanoma Cells Expresses SPANX Proteins

Salemi¹,

Calogero²,

Vicari³

et al. 2009

The American Journal of Dermatopathology

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The expression of SPANX (sperm protein associated with the nucleus in the X chromosome) gene family has been reported in many tumors, such as melanoma, myeloma, glioblastoma, breast carcinoma, ovarian cancer, testicular germ cell tumors, and hematological malignancies. However, no systematic approach has so far been devised to estimate the percentage of cancer cells expressing SPANX. This study was undertaken to quantify the expression of SPANX proteins in melanomas. The expression of SPANX proteins was evaluated by immunohistochemistry in normal skin (n = 12), melanomas (n = 21), and benign nevi (n = 10), using a polyclonal antibody raised in our laboratory. Seventeen of the 21 melanomas (80.9%) examined expressed SPANX proteins. A high percentage of their cells (49.0% +/- 5.5%) stained positively for SPANX proteins compared with no expression found in normal skin cells. Benign nevi had an intermediate number of cells expressing SPANX proteins (25% +/- 8.5%), which resulted significantly higher than normal skin cells and significantly lower than skin melanoma cells. In melanoma cells, the labeling was mostly nuclear, sometimes incomplete or limited to the perinuclear wall, even if cytoplasmic staining was also seen in SPANX-positive tumor cells. In contrast, the 5 of 10 SPANX-positive nevi had a clear nuclear localization of the signal. These data suggest that the SPANX protein family is expressed in the vast majority of the melanomas tested. The mechanism(s), which brings up SPANX gene expression and the role of these proteins are not known.

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Section: Introductionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

A High Percentage of Skin Melanoma Cells Expresses SPANX Proteins

Salemi¹,

Calogero²,

Vicari³

et al. 2009

The American Journal of Dermatopathology

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“…SPANX genes encode the cancer-testis class of antigens [Westbrook et al 2004] and extensive protein antibody analysis provides evidence that expression of the human gene family is limited to the testis and malignant tumors [Salemi et al 2004[Salemi et al , 2006Westbrook et al 2000;Zendman et al 2003]. Little is understood, however, about the exact function of the individual SPANX genes.…”

Section: Introductionmentioning

confidence: 99%

“…All SPANX proteins, except SPANXC, are found exclusively in germ cells, and all the SPANX proteins, except SPANXB, are found at some level in various tumor cells. Current understanding of the role of the SPANX protein during spermatogenesis is still incomplete [Martínez-Heredia et al 2006], but there is consensus that SPANX genes are expressed throughout spermatogenesis, from sperm cell precursors to ejaculated spermatozoa [Salemi et al 2004[Salemi et al , 2006Westbrook et al 2000;. To date the role of SPANX gene variation with male fertility has not been evaluated.…”

Section: Introductionmentioning

confidence: 99%

SPANX Gene Variation in Fertile and Infertile Males

Hansen

Eichler

Fullerton

et al. 2010

Systems Biology in Reproductive Medicine

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Protein expression data suggests that the SPANX gene family is expressed throughout spermatogenesis, including post-meiotic expression, consistent with a potential role in sperm development. The genomic architecture of this region is unstable and past studies have found evidence of variation in this gene family. This study used a novel assay to evaluate copy number variation (CNV) in SPANX gene family, in fertile and infertile men. The case group was comprised of 50 oligozoospermic and 50 azoospermic men, and the control group was comprised of 67 normozoospermic men with children. The assay, real-time quantitative PCR, evaluated CNV of the entire gene cluster containing all four SPANXA-E genes and with SPANXB, found exclusively in maturing sperm. While variation was found in both groups, average CNV patterns did not differ between fertile and infertile males. As this was a targeted assay, it was limited in scope to detect further CNV at a genome-wide level which is an area of increasing interest in the field of genomics.

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“…For example, SPANX genes are deregulated in Down's syndrome subjects who have undescended testis and an increased risk of TGCTs (Satge et al, 1997), further suggesting interaction of genes located on chromosome X and chromosome 21 for TGCT susceptibility. SPANX genes have a testis-specific expression that is conserved in rodents and humans, and was also detected in EC clusters and TGCTs (Westbrook et al, 2004;Salemi et al, 2006).…”

Section: Sex Chromosomes and Tgctsmentioning

confidence: 99%