Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0684249 (lung carcinoma)
 23,830 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Deletions on the long arm of the human Y chromosome are associated with male infertility. In this work, we studied transcripts of a 199,485 bp long fragment of the Yq11 region (GenBank accession number, AC010088) located in the AZFc (azoospermia factor region c), and characterized their gene structures. After masking repetitive elements, we searched human mRNA Refseqs (reference sequences), a dbEST (database of expressed sequence tags) and a non-redundant nucleic acid database for the mRNAs and ESTs corresponding to the AC010088 using the BLAST programs at the NCBI (National Center for Biotechnology Information) site. Our findings are summarized as follows: i) BPY2 (testis basic protein on Y, 2), DAZ1 (deleted in azoospermia 1), TTY4 (testis transcript Y 4) mRNAs and 23 ESTs were found; ii) Eighteen of 23 ESTs were transcripts of the DAZ gene(s), one EST was a transcript of TTY4 gene, and the remaining 4 probably corresponded to 4 different pseudogenes; iii) DAZ gene(s) were expressed not only in testis, but also in lung carcinoma cells, stomach and Ewing's sarcoma cells; iv) beta-satellite clusters were present around and within the BPY2 and TTY4 gene region; v) In this study, TTY4, BPY2 and DAZ1 genes were mapped precisely to the AC010088 region.
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PMID:Study of transcripts from AC010088, a 199,485 bp fragment of the human Y chromosome located in the azoospermia factor region c. 1466 62

Mounting evidence indicates that deregulation of apoptosis is involved in the mechanisms of cancer development. Mutations of genes encoding caspases, the executioners of apoptosis, have been detected in human cancers, indicating inactivation of apoptosis by the mutations of caspase is an important mechanism in cancer development. The aim of this study was to see whether genes encoding human caspases 1, 4, and 5 are mutated in human cancers. We analyzed the entire coding region and all splice sites of human caspase 1, 4, and 5 genes for the detection of somatic mutations in 337 human cancers, including 103 colorectal, 54 gastric, 60 breast, 60 hepatocellular, and 60 lung carcinomas by a single-strand conformation polymorphism assay. We detected 2 (0.6%) caspase-1, 2 (0.6%) caspase-4, and 15 (4.4%) caspase-5 mutations in the 343 cancers. The mutations were detected in 11 gastric carcinomas (2 caspase-1 and 9 caspase-5 mutations), 6 colorectal carcinomas (2 caspase-4 and 4 caspase-5 mutations), 1 breast carcinoma (1 caspase-5 mutation), and 1 lung carcinoma (1 caspase-5 mutation). The mutations consisted of 11 mutations in exons and 8 mutations in noncoding sequences. The 11 mutations in the exons consisted of 3 missense, 1 silent, and 7 frameshift mutation(s). Of note, most (6/9) of the caspase-5 mutations in the coding sequences were detected in microsatellite instability (MSI)-positive cancers. These data indicate that somatic mutations of caspase-1 and caspase-4 genes are rare in common solid cancers. In addition, the data indicate that caspase-5 gene is commonly mutated in the MSI-positive cancers, and suggest that inactivation of caspase-5 may play a role in the tumorigenesis of MSI-positive cancers.
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PMID:Mutational analysis of caspase 1, 4, and 5 genes in common human cancers. 1843 Apr 58