Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017636 (glioblastoma)
 18,345 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Multigenicity is one of the features of cancer/testis-associated genes. In the present study we analyzed the number and expression of genes of the SPANX(CTp11) family of cancer/testis-associated genes. Genomic database analysis, next to the four previously described SPANX genes, revealed the presence of a novel gene: SPANXE. Moreover, we detected an allelic variant of SPANXB resulting in one amino acid substitution in the encoded protein: SPANXB'. Most SPANX genes are present on contig NT_011574 located at Xq26.3-Xq27.1. Based on expressed sequence tag databases and RT-PCR analysis three additional novel SPANX sequences were identified, though not represented so far in the human genome sequence. Sequence alignments justify a subdivision of this gene family based on the absence (SPANXA-likes) or presence (SPANXB) of an 18 base pair sequence stretch in the open reading frame. The alignments also reveal an unusually high level (99%) of intron homology. Furthermore, the nucleotide variations in the open reading frame almost all lead to amino acid substitutions. Southern blot and database analyses indicate that SPANX sequences are exclusively present in primates. With RT-PCR analysis on human sperm cell precursors and tumor cell lines most family members could be detected. SPANXB was only found in sperm cell precursors and could not be detected in the tumor cell lines tested. Overall SPANXA was the most frequently expressed SPANX variant in melanoma and glioblastoma cell lines.
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PMID:The human SPANX multigene family: genomic organization, alignment and expression in male germ cells and tumor cell lines. 1275 28

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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PMID:A high percentage of skin melanoma cells expresses SPANX proteins. 1931 7