Abstract
BackgroundThe role of genes involved in the control of progression from the G1 to the S phase of the cell cycle in melanoma tumors in not fully known. The aim of our study was to analyse mutations in TP53, CDKN1A, CDKN2A, and CDKN2B genes in melanoma tumors and melanoma cell linesMethodsWe analysed 39 primary and metastatic melanomas and 9 melanoma cell lines by single-stranded conformational polymorphism (SSCP).ResultsThe single-stranded technique showed heterozygous defects in the TP53 gene in 8 of 39 (20.5%) melanoma tumors: three new single point mutations in intronic sequences (introns 1 and 2) and exon 10, and three new single nucleotide polymorphisms located in introns 1 and 2 (C to T transition at position 11701 in intron 1; C insertion at position 11818 in intron 2; and C insertion at position 11875 in intron 2). One melanoma tumor exhibited two heterozygous alterations in the CDKN2A exon 1 one of which was novel (stop codon, and missense mutation). No defects were found in the remaining genes.ConclusionThese results suggest that these genes are involved in melanoma tumorigenesis, although they may be not the major targets. Other suppressor genes that may be informative of the mechanism of tumorigenesis in skin melanomas should be studied.
Highlights
The role of genes involved in the control of progression from the G1 to the S phase of the cell cycle in melanoma tumors in not fully known
These results suggest that these genes are involved in melanoma tumorigenesis, they may be not the major targets
In order to investigate the role of the genes involved in the control of G1/S phase cell cycle progression in human melanomas, the aim of our study was to determine the presence of mutations in TP53, CDKN1A, CDKN2A and CDKN2B genes in primary and metastatic melanomas and melanoma cell lines
Summary
The role of genes involved in the control of progression from the G1 to the S phase of the cell cycle in melanoma tumors in not fully known. The aim of our study was to analyse mutations in TP53, CDKN1A, CDKN2A, and CDKN2B genes in melanoma tumors and melanoma cell lines. The transition from phase G1 to S of the cell cycle is controlled by sequential activation of cyclin/Cdk complexes (Cyclin-dependent kinases) [1]. Active cyclin/Cdk complexes phosphorylate and inactivate members of the retinoblastoma protein (Rb) family, which are negative regulators of G1 and S-phase progression, leading to the induction of E2F-regulated gene expression and cell proliferation. Inhibitors of cyclin/Cdk complexes, by binding to these complexes, negatively regulate cell cycle progression [2]. Two families of Cdk-inhibitors (CKI) control the actions mediated by cyclin/Cdk complexes. Two families of Cdk-inhibitors (CKI) control the actions mediated by cyclin/Cdk complexes. p21 ( called WAF1, and CDKN1A; MIM# 116899) [3] is the founding member of the Cip/Kip family of CKI, which includes (page number not for citation purposes)
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