RGD Reference Report - Loss of expression, and mutations of Smad 2 and Smad 4 in human cervical cancer. - Rat Genome Database

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Loss of expression, and mutations of Smad 2 and Smad 4 in human cervical cancer.

Authors: Maliekal, TT  Antony, ML  Nair, A  Paulmurugan, R  Karunagaran, D 
Citation: Maliekal TT, etal., Oncogene. 2003 Jul 31;22(31):4889-97.
RGD ID: 2299968
Pubmed: PMID:12894231   (View Abstract at PubMed)
DOI: DOI:10.1038/sj.onc.1206806   (Journal Full-text)

Mutations in Smads, intermediates of transforming growth factor-beta signaling, are known to contribute to the loss of sensitivity to transforming growth factor-beta, a common feature of many neoplastic cells. However, not much information is available on Smad alterations in cervical cancer and so we probed, for the first time, for alterations in Smad 2 and Smad 4 genes using human cervical cancer cell lines and human cervical tissue samples. Using PCR/reverse transcription-PCR, single-stranded conformation polymorphism analysis and DNA sequencing, we observed a deletion of 'G' in the L3 loop (crucial in Smad-receptor interaction) in C-33A cells, and an insertion of 'A' in codon 122 (loss of MH2 domain) from a cervical tumor sample, both of which caused frame shift and pretermination in Smad 2. In addition, a G/A transition at 31 bp upstream-nontranslated regions of exon 8 of Smad 4 was found in Bu 25TK cells. Smad 2 expression was less in some of the cervical tumor samples than that of nonmalignant samples and six cancer samples showed C-terminal deletions that abolish Smad 2 phosphorylation sites. The loss of expression of Smad 4 found in some cervical tumor samples was due to transcription loss rather than deletion of the gene. Our results highlight an important role for Smad 2 and Smad 4 in human cervical tumors.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
cervical cancer  IAGP 2299968DNA more ...RGD 
cervical cancer  IEP 2299968mRNA:decreased expression:uterine cervixRGD 
cervical cancer  ISOSMAD2 (Homo sapiens)2299968; 2299968DNA more ...RGD 
cervical cancer  ISOSMAD4 (Homo sapiens)2299968; 2299968mRNA:decreased expression:uterine cervixRGD 

Objects Annotated

Genes (Rattus norvegicus)
Smad2  (SMAD family member 2)
Smad4  (SMAD family member 4)

Genes (Mus musculus)
Smad2  (SMAD family member 2)
Smad4  (SMAD family member 4)

Genes (Homo sapiens)
SMAD2  (SMAD family member 2)
SMAD4  (SMAD family member 4)


Additional Information