Identification of deletion mutations and three new genes at the familial polyposis locus

Cell. 1991 Aug 9;66(3):601-13. doi: 10.1016/0092-8674(81)90022-2.

Abstract

Small (100-260 kb), nested deletions were characterized in DNA from two unrelated patients with familial adenomatous polyposis coli (APC). Three candidate genes located within the deleted region were ascertained and a previous candidate gene, MCC, was shown to be located outside the deleted region. One of the new genes contained sequence identical to SRP19, the gene coding for the 19 kd component of the ribosomal signal recognition particle. The second, provisionally designated DP1 (deleted in polyposis 1), was found to be transcribed in the same orientation as MCC. Two other cDNAs, DP2 and DP3, were found to overlap, forming a single gene, DP2.5, that is transcribed in the same orientation as SRP19.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenomatous Polyposis Coli / genetics*
  • Amino Acid Sequence
  • Base Sequence
  • Chromosome Deletion
  • Cloning, Molecular
  • Colonic Neoplasms / genetics
  • DNA / genetics
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Restriction Mapping

Substances

  • DNA

Associated data

  • GENBANK/M60962
  • GENBANK/M64383
  • GENBANK/M64384
  • GENBANK/M73547
  • GENBANK/M73548
  • GENBANK/S44812
  • GENBANK/S44816
  • GENBANK/S44821
  • GENBANK/S56137
  • GENBANK/S56139