Living reference work entry
Cyclin-dependent kinase inhibitor 2A gene (CDKN2A), the first identified melanoma predisposition gene, encodes the tumor suppressor proteins p16 and ARF.
Identification of CDKN2A
The 9p21-22 chromosomal region was originally implicated in the development of melanomas through a combination of cytogenetic and loss of heterozygosity (LOH) studies. Subsequent linkage analysis in melanoma families indicated that this region harbored a melanoma predisposition locus. Homozygous deletions in cell lines derived from several different tumor types narrowed down the region significantly. This led to the isolation, by two independent groups, of the cell cycle regulatory gene encoding the cyclin-dependent kinase (CDK) inhibitor, p16, which had been previously identified in a yeast two-hybrid screen to identify proteins that bound to CDK4 (Fig. 1).
KeywordsMelanoma Risk Inhibit Cell Cycle Progression CDKN2A Gene Multiple Primary Tumor Alternative Reading Frame
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© Springer-Verlag Berlin Heidelberg 2015