Literature DB >> 1678319

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

G Joslyn1, M Carlson, A Thliveris, H Albertsen, L Gelbert, W Samowitz, J Groden, J Stevens, L Spirio, M Robertson.   

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.

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Year:  1991        PMID: 1678319     DOI: 10.1016/0092-8674(81)90022-2

Source DB:  PubMed          Journal:  Cell        ISSN: 0092-8674            Impact factor:   41.582


  170 in total

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Authors:  M R Santos; H Lorenzi; P Porcile; M S Carmo; A Schijman; A Brandão; J E Araya; H B Gomes; M A Chiurillo; J L Ramirez; W M Degrave; M J Levin; J F da Silveira
Journal:  Genome Res       Date:  1999-12       Impact factor: 9.043

2.  Discovery of the gene for familial adenomatous polyposis.

Authors:  A J Macpherson; I Bjarnason; I C Forgacs
Journal:  BMJ       Date:  1992-04-04

3.  Predictive diagnosis of familial adenomatous polyposis with linked DNA markers: population based study.

Authors:  F MacDonald; D G Morton; P M Rindl; J Haydon; R Cullen; J Gibson; J P Neoptolemos; M R Keighley; C M McKeown; M Hultén
Journal:  BMJ       Date:  1992-04-04

4.  Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients.

Authors:  Y Miyoshi; H Ando; H Nagase; I Nishisho; A Horii; Y Miki; T Mori; J Utsunomiya; S Baba; G Petersen
Journal:  Proc Natl Acad Sci U S A       Date:  1992-05-15       Impact factor: 11.205

Review 5.  Functions of the APC tumor suppressor protein dependent and independent of canonical WNT signaling: implications for therapeutic targeting.

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8.  Regulation of intracellular beta-catenin levels by the adenomatous polyposis coli (APC) tumor-suppressor protein.

Authors:  S Munemitsu; I Albert; B Souza; B Rubinfeld; P Polakis
Journal:  Proc Natl Acad Sci U S A       Date:  1995-03-28       Impact factor: 11.205

9.  Phenotypic differences in familial adenomatous polyposis based on APC gene mutation status.

Authors:  K Heinimann; B Müllhaupt; W Weber; M Attenhofer; R J Scott; M Fried; S Martinoli; H Müller; Z Dobbie
Journal:  Gut       Date:  1998-11       Impact factor: 23.059

10.  Loss of Apc heterozygosity and abnormal tissue building in nascent intestinal polyps in mice carrying a truncated Apc gene.

Authors:  M Oshima; H Oshima; K Kitagawa; M Kobayashi; C Itakura; M Taketo
Journal:  Proc Natl Acad Sci U S A       Date:  1995-05-09       Impact factor: 11.205

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