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

Geoff Joslyn, Mary Carlson, Andrew Thliveris, Hans Albertsen, Lawrence Gelbert, Wade Samowitz, Joanna Groden, Jeff Stevens, Lisa Spirio, Margaret Robertson, Leslie Sargeant, Karen Krapcho, Erika Wolff, Randall Burt, J. P. Hughes, Janet Warrington, John Douglas Mcpherson, John Wasmuth, Denis Le Paslier, Hadi AbderrahimDaniel Cohen, Mark Leppert, Ray White

Research output: Contribution to journalArticle

642 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)601-613
Number of pages13
JournalCell
Volume66
Issue number3
DOIs
StatePublished - Aug 9 1991

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology

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    Joslyn, G., Carlson, M., Thliveris, A., Albertsen, H., Gelbert, L., Samowitz, W., Groden, J., Stevens, J., Spirio, L., Robertson, M., Sargeant, L., Krapcho, K., Wolff, E., Burt, R., Hughes, J. P., Warrington, J., Mcpherson, J. D., Wasmuth, J., Le Paslier, D., ... White, R. (1991). Identification of deletion mutations and three new genes at the familial polyposis locus. Cell, 66(3), 601-613. https://doi.org/10.1016/0092-8674(81)90022-2