RGD Reference Report - Involvement of mutations in the DPC4 promoter in endometrial carcinoma development. - Rat Genome Database

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Involvement of mutations in the DPC4 promoter in endometrial carcinoma development.

Authors: Zhou, Y  Kato, H  Shan, D  Minami, R  Kitazawa, S  Matsuda, T  Arima, T  Barrett, JC  Wake, N 
Citation: Zhou Y, etal., Mol Carcinog. 1999 May;25(1):64-72.
RGD ID: 2300009
Pubmed: PMID:10331746   (View Abstract at PubMed)

To define the target of chromosome 18q loss of heterozygosity, which is prevalent in endometrial carcinomas, we made a deletion map from 64 tumors. Loss of heterozygosity on 18q was found in 20 tumors. Among these, 14 tumors carried deletions at the 18q21.1 region, where the DPC4 gene is located. DPC4 transcription was disturbed in all six of the tumors with deletions at 18q21.1 examined, which sharply contrasted with the positive transcription in 12 tumors that retained heterozygosity at the 18q21.1 region. However, in the 14 tumors with the 18q21.1 deletions, the remaining allele had the wild-type sequence of the DPC4 coding region instead of somatic mutations in the DPC4 coding region. We found a one- and two-base substitutions in the DPC4 promoter in two of the six tumors that showed disturbed DPC4 transcription. Chloramphenicol acetyltransferase assays clearly demonstrated that the mutant promoters had the potential to suppress or silence DPC4 transcription, implicating the DPC4 gene in endometrial carcinoma.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
endometrial carcinoma  IAGP 2300009DNA:substitutions:promoterRGD 
endometrial carcinoma  ISOSMAD4 (Homo sapiens)2300009; 2300009DNA:substitutions:promoterRGD 

Objects Annotated

Genes (Rattus norvegicus)
Smad4  (SMAD family member 4)

Genes (Mus musculus)
Smad4  (SMAD family member 4)

Genes (Homo sapiens)
SMAD4  (SMAD family member 4)


Additional Information