Mutational analysis of Chk1, Chk2, Apaf1 and Rb1 in human malignant melanoma cell lines

• DOI: 10.3892/or.17.1.135
• Publication Date: 2014-03-10T07:50:11Z
• Authors: Thilo Papp; Annett Niemetz; Nils Dosdahl; Krishan Kumar; Dietmar Schiffmann
• Keywords: 0301 basic medicine; Base Sequence; DNA Mutational Analysis; Molecular Sequence Data; Protein Serine-Threonine Kinases; Retinoblastoma Protein; 3. Good health; Checkpoint Kinase 2; 03 medical and health sciences; Apoptotic Protease-Activating Factor 1; Cell Line, Tumor; Checkpoint Kinase 1; Mutation; Humans; Genes, Tumor Suppressor; Codon; Melanoma; Protein Kinases

Four tumour suppressor genes (Chk1, Chk2, Apaf1 and Rb1) in nine human malignant melanoma cell lines were screened for a loss of gene expression, point mutations and small deletions/insertions by cDNA-based DGGE/SCCP analysis. In two cell lines alterations of the investigated genes could be demonstrated. This result confirms our assumption of the participation of dysfunctional p53 inducer/effector genes in human melanoma aetiology. Furthermore, it points towards the probable principal role of diverse alternative p53-pathway disruption mechanisms in this highly therapy-resistant malignancy without affecting p53 itself. To our knowledge, this is the first CHK1/CHK2 mutation screening in human melanoma.