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PubMed:12384800 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 1700-1705 gene:768 denotes CA IX
T1 1779-1782 disease:C0007134 denotes RCC
T2 1749-1755 gene:771 denotes CA XII
T3 1779-1782 disease:C0007134 denotes RCC
R1 T0 T1 associated_with CA IX,RCC
R2 T2 T3 associated_with CA XII,RCC

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
12384800-11#44#49#gene768 1700-1705 gene768 denotes CA IX
12384800-11#93#99#gene771 1749-1755 gene771 denotes CA XII
12384800-11#123#126#diseaseC0007134 1779-1782 diseaseC0007134 denotes RCC
12384800-5#134#137#gene7428 916-919 gene7428 denotes VHL
12384800-5#56#59#diseaseC0007134 838-841 diseaseC0007134 denotes RCC
44#49#gene768123#126#diseaseC0007134 12384800-11#44#49#gene768 12384800-11#123#126#diseaseC0007134 associated_with CA IX,RCC
93#99#gene771123#126#diseaseC0007134 12384800-11#93#99#gene771 12384800-11#123#126#diseaseC0007134 associated_with CA XII,RCC
134#137#gene742856#59#diseaseC0007134 12384800-5#134#137#gene7428 12384800-5#56#59#diseaseC0007134 associated_with VHL,RCC

PubMed_Structured_Abstracts

Id Subject Object Predicate Lexical cue
T1 151-347 OBJECTIVE denotes Our primary goal was to determine whether increased expression of the transmembrane carbonic anhydrase (CA) isozymes in renal cell carcinoma (RCC) is regulated by the von Hippel-Lindau (VHL) gene.
T2 357-601 METHODS denotes We studied mRNA expression of all three transmembrane CAs - CA IX, XII, and XIV - in 17 RCC cell lines, transformants of the wild-type VHL gene, and normal kidney tissue cultures, and then compared them with the mutation status in the VHL gene.
T3 611-1642 RESULTS denotes Northern blot analysis showed no detectable signal for CA XIV mRNA expression in normal and cancer cells. CA XII mRNA was ubiquitously expressed except in two cell lines. Although CA XII expression levels tended to be lower in RCC cell lines without the VHL mutation and in transformants of the wild-type VHL gene, the results were not conclusive. Significant expression of CA IX mRNA was seen in eight of 17 RCC cell lines. Among five cell lines which had no VHL mutation, four lines showed no detectable signal and one cell line showed a low amount of CA IX mRNA expression. In patients with RCC, VHL mutations and significant CA IX expression were seen in established tumor cell lines but not in primary tissue cultures from normal counterparts. Further study of methylation status showed that the 5' region in the CA9 gene was hypomethylated in all CA IX-positive cell lines and hypermethylated in all CA IX-negative cell lines. Especially, methylation status at -74 and -6 CpG sites perfectly correlated with CA IX expression.
T4 1656-1858 CONCLUSIONS denotes These findings indicate that VHL suppresses CA IX expression but has no conclusive effect on CA XII and XIV expressions in RCC. CA IX expression is also driven by the methylation status of the CA9 gene.