Detection of protein truncating mutations in exons 1-14 of the APC gene using an in vivo fusion protein assay. Mutations in brief no. 214. Online

Hum Mutat. 1999;13(2):170-1. doi: 10.1002/(SICI)1098-1004(1999)13:2<170::AID-HUMU12>3.0.CO;2-7.

Abstract

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.

MeSH terms

  • Adenomatous Polyposis Coli / genetics*
  • Adenomatous Polyposis Coli Protein
  • Alternative Splicing / genetics
  • Cytoskeletal Proteins / genetics*
  • Exons / genetics*
  • Humans
  • Mutation / genetics*
  • Recombinant Fusion Proteins / genetics*
  • Saccharomyces cerevisiae / genetics

Substances

  • Adenomatous Polyposis Coli Protein
  • Cytoskeletal Proteins
  • Recombinant Fusion Proteins