Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0684249 (lung carcinoma)
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We report the structural and functional characterization of the HF.10 zinc finger gene (ZNF35) in normal human cells, as well as a processed pseudogene. The HF.10 gene spans about 13 kb and it is interrupted by three introns. All 11 zinc finger DNA-binding domains are contiguously encoded within the last 3' exon. The genomic region surrounding HF.10 exon 1 contains a CpG island and acts as a promoter in vitro. Using transient CAT assay in cotransfection experiments in cultured cells, we have determined that the HF.10 finger protein is a transcriptional transactivator. Restriction enzyme mapping and partial nucleotide sequencing of the HF.10 pseudogene indicated that it has arisen by retroposition of spliced HF.10 mRNA. In situ hybridization experiments revealed that both the functional locus and the pseudogene map to chromosome 3p21p22, a region that is frequently deleted in small cell lung and renal carcinomas. Hybridization of the HF.10 gene and the HF.10 pseudogene DNA probes to metaphases from a small cell lung carcinoma cell line with the 3p deletion revealed that both loci are part of the deleted chromosome region.
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PMID:Structural and functional organization of the HF.10 human zinc finger gene (ZNF35) located on chromosome 3p21-p22. 157 46

Deletion mapping of chromosome 3p was performed on 47 cases of human uterine cervical cancer using 24 polymorphic DNA markers including five inter-Alu DNA markers and two NotI-boundary cosmid markers obtained in our laboratory. The most likely order of these 24 polymorphic DNA markers was determined as being cen-[D3S4, H8]-D3S693-D3S659-D3S30-D3S687-[D3S2, UR9, UR47]-J36-J17-GNAI2B-D3F15S2-D3S643- D3S32-D3S23-D3S686-H35-UR189-D3S685-D3S 11 - D3S12-THRB-D3S22-pter, based on the data from radiation hybrid mapping genetic linkage analysis and in situ hybridization. Loss of heterozygosity (LOH) at one or more loci on chromosome 3p was detected in 21 of 47 cases (45%). Four tumors showed partial or interstitial deletions, and the common region of LOH in these tumors was 3p13-p21.1 between the D3S30 marker and the D3S2 marker. Candidates for tumor-suppressor genes, APEH, D8, GNA12B, ZNF35, RARB, THRB and RAFI, were all mapped outside of the common region in uterine cervical cancer. However, this region is commonly deleted in carcinoma of the lung, breast and kidney, and encompasses the breakpoint of the (3;8) translocation in hereditary renal cell carcinoma. This result indicates the presence of a novel tumor-suppressor gene in the region of 3p13-p21.1, which is involved in the development of several human cancers.
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PMID:Deletion mapping of chromosome 3p in human uterine cervical cancer. 809 26