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Mutations of theINK4aLocus in Squamous Cell Carcinomas of Human Skin

1997; Elsevier BV; Volume: 232; Issue: 1 Linguagem: Inglês

10.1006/bbrc.1997.6217

1090-2104

Yoshiaki Kubo, Yoshio Urano, Kazuya Matsumoto, Kamrul Ahsan, Seiji Arase,

NF-κB Signaling Pathways

TheINK4alocus encodes two different, cell cycle-regulating proteins, p16INK4aand p19ARF. In this study, we screened mutations in all coding regions of theINK4alocus (exons 1β, 1α , 2, and 3) in 21 squamous cell carcinomas (SCCs) of human skin by polymerase chain reaction–single strand conformation polymorphism analysis. Mutations were detected in 3 SCCs in exon 2, which is common to both p16INK4aand p19ARF. These included an in-frame deletion of 21 base pairs from codon 84 to 90, a frameshift mutation of CCC→TC at codon 75, and a nonsense mutation of CGA→TGA at codon 80 of the p16INK4agene. These results suggest that inactivation of theINK4alocus has some relevance to the carcinogenesis in at least some of SCCs of human skin. This is the first demonstration of aberrations in theINK4alocus in SCCs of human skin.