Cell
Volume 66, Issue 3, 9 August 1991, Pages 589-600
Journal home page for Cell

Article
Identification and characterization of the familial adenomatous polyposis coli gene

https://doi.org/10.1016/0092-8674(81)90021-0Get rights and content

Abstract

DNA from 61 unrelated patients with adenomatous polyposis coli (APC) was examined for mutations in three genes (DP1, SRP19, and DP2.5) located within a 100 kb region deleted in two of the patients. The intron-exon boundary sequences were defined for each of these genes, and single-strand conformation polymorphism analysis of exons from DP2.5 identified four mutations specific to APC patients. Each of two aberrant alleles contained a base substitution changing an amino acid to a stop codon in the predicted peptide; the other mutations were small deletions leading to frameshifts. Analysis of DNA from parents of one of these patients showed that his 2 bp deletion is a new mutation; furthermore, the mutation was transmitted to two of his children. These data have established that DP2.5 is the APC gene.

References (28)

  • W. Bodmer et al.

    Localization of the gene for familial adenomatous polyposis on chromosome 5

    Nature

    (1987)
  • H. Bourne

    Consider the coiled coil

    Nature

    (1991)
  • R. Burt et al.

    Dominant inheritance of adenomatous colonic polyps and colorectal cancer

    N. Engl. J. Med.

    (1985)
  • L. Cannon-Albright et al.

    Common inheritance of susceptibility to colonic adenomatous polyps and associated colorectal cancers

    N. Engl. J. Med.

    (1988)
  • Cited by (2510)

    • Regulation and functions of cell division in the intestinal tissue

      2023, Seminars in Cell and Developmental Biology
    View all citing articles on Scopus
    View full text