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  • 2000-2004  (2)
  • 1960-1964
  • Breast cancer  (1)
  • Coiled-coil domain  (1)
  • 1
    ISSN: 1435-232X
    Keywords: Key words Prostate-specific antigen gene ; Polymorphism ; Promoter ; Breast cancer ; Japanese ; Genotyping
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A growing body of evidence suggests that prostate-specific antigen (PSA) is a novel prognostic factor for breast cancer. The molecular mechanism of variant PSA expression in breast cancer has remained poorly understood in spite of intensive research. Previous studies have shown that the coding region of the PSA gene is not a target for mutations in prostate cancer and breast cancer. The purpose of this study was to analyze genetic variations in the promoter region of the PSA gene, and to detect whether such variations are correlated with PSA mRNA expression in breast tumors. We identified two polymorphisms in the proximal promoter region of the PSA gene. These polymorphisms are located at positions −252 (G or A) and −205 (A or AA), and generate three genotypes. The genotypes were associated with PSA mRNA expression. Our findings suggest that these polymorphisms identified in the proximal promoter region may affect the transcriptional activity of PSA.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Journal of human genetics 45 (2000), S. 12-17 
    ISSN: 1435-232X
    Keywords: Key words Large-scale DNA sequencing ; In silico cDNA cloning ; 8p22–p21.3 ; Leucine-zipper domain ; Coiled-coil domain
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Through large-scale sequencing of genomic DNA from human chromosome 8p22–p21.3 we have isolated two novel genes, designated GK1 and G5. Their predicted products showed no significant similarity to any known proteins in public databases. A comparison of GK1 cDNA sequences, which encode a 1270-amino-acid protein, with corresponding genomic DNA sequences revealed that this gene consists of 15 exons and spans an approximately 113-kb genomic region. Northern blot analysis revealed ubiquitous expression of 7.0- and 4.4-kb transcripts; in addition, we detected a 5.0-kb skeletal muscle-specific transcript and a 4.0-kb transcript specifically expressed in heart and pancreas. Computer and immunocytochemical analyses of a GK1 Green fluolesent protein (GFP) fused construct indicated that the gene product, which contains putative leucine-zipper domains, was likely to be a mitochondrial protein. The other novel gene, G5, expressed four transcripts (4.2, 2.2, 1.7, and 1.0-kb) ubiquitously; the longer three transcripts, which differed only in the 3′-non coding region, encoded identical 397-amino-acid peptides. The G5 gene consists of 14 exons and spans approximately 52 kb of genomic DNA; its deduced 397-amino acid product appears to contain coiled-coil domains and a proline-rich region, and to be located in cytoplasm.
    Type of Medium: Electronic Resource
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