Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027819 (neuroblastoma)
 27,800 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A deletion of the short arm on human chromosome 1 is a common genetic abnormality in neuroblastoma, which is a highly malignant tumor in young childhood. Recently, calmodulin-binding transcription activator 1 (CAMTA1) gene was identified at 1p36 and considered as a candidate tumor suppressor of neuroblastoma. In the present study, we demonstrate that the expression levels of CAMTA1 mRNA were high in N-type neuroblastoma cell lines but low in S-type neuroblastoma cell lines. This result suggested that CAMTA1 could associate with the differentiation of neuroblastoma cells. Moreover, we examined the relationship between the expression of CAMTA1 and cell cycle progression in N-type neuroblastoma SK-N-SH cells. During cell cycle synchronization, cell cycle phases were checked by flow cytometry and Western blot analysis of cell cycle-related proteins. Then, the expression of CAMTA1 mRNA was determined by RT-PCR in each phase of the cell cycle. CAMTA1 mRNA showed a cell cycle-dependent expression, resulting in high levels of expression in S and M phases. Moreover, microscopic analysis revealed that the cell cycle-dependent expression of CAMTA1 protein is in agreement with mRNA expression. Taken together, CAMTA1 is expressed in S and M phases and decreased in post-mitosis. These results suggest that CAMTA1 may participate in induction of cell differentiation and cell cycle regulation.
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PMID:Cell cycle-dependent transcriptional regulation of calmodulin-binding transcription activator 1 in neuroblastoma cells. 1513 81

Deletion of a distal portion of 1p is seen in a wide range of human malignancies, including neuroblastoma. Here, a 1p36.3 commonly deleted region of 216 kb has been defined encompassing two genes, CAMTA1 and FLJ10737. Low expression of CAMTA1 has been recently shown to be an independent predictor of poor outcome in neuroblastoma patients. The present study surveys CAMTA1 and FLJ10737 for genetic alterations by fluorescence-based single strand conformation polymorphism (SSCP) using a panel of DNAs from 88 neuroblastomas, their matching blood samples and 97 unaffected individuals. Nucleotide variants encoding amino acid substitutions were found in both genes. One CAMTA1 variant (T1336I) was not detected in 97 unaffected individuals, another (N1177K) resides in a conserved domain of the CAMTA1 protein and was found hemizygous in six neuroblastomas. We found no evidence for somatic mutations in FLJ10737 or CAMTA1. Further investigations are needed to address the functional impact of the identified variants and their possible significance for neuroblastoma.
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PMID:Allelic variants of CAMTA1 and FLJ10737 within a commonly deleted region at 1p36 in neuroblastoma. 1722 47