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Detection of protein truncating mutations in exons 1‐14 of the APC gene using an in vivo fusion protein assay
Author(s) -
AndreuttiZaugg C.,
Couturier A.,
Chappuis P.,
Hutter P.
Publication year - 1999
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/(sici)1098-1004(1999)13:2<170::aid-humu13>3.0.co;2-4
Subject(s) - frameshift mutation , biology , exon , open reading frame , genetics , gene , nonsense mutation , microbiology and biotechnology , coding region , adenomatous polyposis coli , fusion protein , stop codon , mutation , missense mutation , peptide sequence , cancer , recombinant dna , colorectal cancer
About 80% of the mutations identified to date in the Adenomatous Polyposis Coli ( APC ) gene have been found in the 5′ half of the coding sequence, the vast majority of which (>95%) are nonsense or frameshift mutations that result in the loss of the carboxyl terminus of APC protein. Using a stop codon assay in yeast recently developed by others (Ishioka et al., 1997), we have screened the 5′ half of the APC gene for mutations in 7 unrelated families affected with Familial Adenomatous Polyposis. The assay relies on the expression of a yeast reporter gene fused in frame to one of 3 contiguous segments of the APC open reading frame. Here we report on the detection by this assay of 5 germline mutations, 4 of which lie upstream of exon 15, where lesions appear to be sometimes difficult to detect by standard methods. © 1998 Wiley‐Liss, Inc.