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Splice mutations in the p53 gene: case report and review of the literature
Author(s) -
Holmila R.,
Fouquet C.,
Cadranel J.,
Zalcman G.,
Soussi T.
Publication year - 2003
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9104
Subject(s) - biology , splice , gene , genetics , rna splicing , mutation , alternative splicing , exon , splice site mutation , rna
Splice mutations in the p53 gene (TP53) are described as rare events that occur at a frequency of less than 1%. Using a functional assay based on the transcriptional activity of p53 and using RNA as starting material, we describe here a p53 splice mutation that could not be detected by genomic sequencing. This lack of detection is due to a deletion of the region complementary to primers commonly used for amplification. Reviewing the literature, we show that p53 splice mutations have been certainly underestimated and that careful strategy should be used for a complete mutational analysis of the p53 gene. Furthermore, some p53 gene mutations described as “neutral” due to the absence of any amino‐acid change are truly deleterious, as they affect gene splicing. © 2002 Wiley‐Liss, Inc.