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  • 1
    Electronic Resource
    Electronic Resource
    DNA MUTATION INDUCED IN THE SEQUENCE UPSTREAM OF THE SECRETED MYU C-TERMINAL CODING SEQUENCE BY ULTRAVIOLET IRRADIATION IN THE CELL LINE OF BLOOM'S SYNDROME (1995)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 22 (1995), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: Selective IgM deficiency is commonly found in Bloom's syndrome (BS). We reported that membrane-bound μ (μ m) mRNA was well transcribed but secreted μ (μ s) mRNA was not, although there was no mutation or deletion in the sequence including the (is C-terminal coding sequence in the patients with BS. Furthermore, we have shown previously, preferential damage to IgM production by ultraviolet (UV) irradiation of the cells of the patient. In the study described here, mutation in the sequence which is upstream of the 5’ end of the μ s C-terminal coding sequence was induced by UV irradiation in the lymphoblastoid cell line (LCL) of BS patient. These results suggest that abnormal repair of DNA damage is present in this LCL, and that preferential damage to IgM production by UV irradiation in this LCL may be due to the abnormal repair of DNA damage.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1995.tb00226.x
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  • 2
    Electronic Resource
    Electronic Resource
    A WILD-TYPE μs C-TERMINAL GENE IS EXPRESSED IN BLOOM'S SYNDROME CELLS (1994)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 21 (1994), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: Selective IgM deficiency is found commonly in patients with Bloom's syndrome (BS). Serum IgM concentrations were low though serum IgG and IgA concentrations were normal in both patients with BS included in the study. In a previous study the authors showed that selective IgM deficiency in BS is due to an abnormality in the maturation of surface IgM-bearing cells into IgM-secreting cells and a failure of secreted μ (μ s) mRNA synthesis. The membrane-bound μ (μ m) and μ s mRNA are produced from transcripts of a single immunoglobulin μ gene by alternative RNA processing pathways. The control of μ s mRN A synthesis depends on the addition of poly(A) to μ s C-terminal segment. The study described here demonstrated that there was no mutation or deletion in the sequence including μ s C-terminal coding sequence, the RNA splice site (GG/TAAAC) at the 5’ end of μ s C-terminal segment, and the AATAAA poly(A) signal sequence, and second GT-rich element immediately down-stream of the cleavage site in both patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1994.tb00184.x
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