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  • 2000-2004  (2)
  • 1960-1964
  • DAN  (1)
  • Hereditary breast cancer  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Identification of Rad51 alteration in patients with bilateral breast cancer (2000)
    Springer
    Journal of human genetics 45 (2000), S. 133-137 
    Details
    ISSN: 1435-232X
    Keywords: Key wordsRad51 ; Hereditary breast cancer ; BRCA1 ; BRCA2 ; Germline alteration
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The human Rad51 gene, HsRAD51, is a homolog of RecA of Escherichia coli and functions in recombination and DNA repair. BRCA1 and BRCA2 proteins form a complex with Rad51, and these genes are thought to participate in a common DNA damage response path-way associated with the activation of homologous recombination and double-strand break repair. Additionally, we have shown that the pattern of northern blot analysis of the Rad51 gene is closely similar to those of the BRCA1 and BRCA2 genes. It is therefore possible that alterations of the Rad51 gene may be involved in the development of hereditary breast cancer. To investigate this possibility, we screened Japanese patients with hereditary breast cancer for Rad51 mutations and found a single alteration in exon 6. This was determined to be present in the germline in two patients with bilateral breast cancer, one with synchronous bilateral breast cancer and the other with synchronous bilateral multiple breast cancer. In both patients, blood DNAs showed a G-to-A transition in the second nucleotide of codon 150, which results in the substitution of glutamine for arginine. As this alteration was not present in any patients with breast or colon cancer examined, we assume that this missense alteration is likely to be a disease-causing mutation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050199
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Molecular cloning and expression analysis of the human DA41 gene and its mapping to chromosome 9q21.2–q21.3 (2000)
    Springer
    Journal of human genetics 45 (2000), S. 188-191 
    Details
    ISSN: 1435-232X
    Keywords: Key words Chromosome 9q ; DA41 ; DAN ; FISH ; Ubiquitin-like protein
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract DA41 was previously identified as one of the DAN-binding proteins, via a yeast-based two-hybrid screening strategy. In the present study, we cloned a human homolog of DA41 cDNA. Structural analysis revealed that human DA41 cDNA consisted of 2,861 nucleotides in length and encoded a protein of 589 amino acids, with a predicted molecular mass of 62.4 kDa. Human DA41 exhibited an 86% amino acid sequence identity to rat DA41, indicating the evolutionarily conserved structure and function of DA41. A database search for DA41-related protein(s) identified mouse PLIC-1, PLIC-2, frog XDRP1, and yeast DSK2. DA41 and each DA41-related protein contain a ubiquitin-like domain in their amino-terminal regions. DA41 was expressed ubiquitously in adult human tissues, with relatively higher levels in pituitary gland, adrenal gland, kidney, thymus, and placenta. Fluorescence in situ hybridization (FISH) revealed that DA41 was mapped to human chromosome 9q21.2–q21.3, a position overlapping the candidate tumor suppressor locus for bladder cancer.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050209
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    Paper (German National Licenses)
    Fulltext
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