title: 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.
abstract: Selective IgM deficiency is commonly found in Bloom's syndrome (BS). We reported that membrane-bound mu (micron(s)) mRNA was well transcribed but secreted mu (microseconds) mRNA was not, although there was no mutation or deletion in the sequence including the microseconds 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 microseconds 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.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Ozawa
authors.forename: N
authors.initials: N
authors.lastname: Kondo
authors.forename: F
authors.initials: F
authors.lastname: Motoyoshi
authors.forename: K
authors.initials: K
authors.lastname: Kasahara
authors.forename: T
authors.initials: T
authors.lastname: Orii
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D001816:Bloom Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology*; D002460:Cell Line; D004249:DNA Damage; D004252:DNA Mutational Analysis; D004260:DNA Repair; D004406:Dysgammaglobulinemia / Q000209:etiology / Q000235:genetics*; D005260:Female; D005803:Genes, Immunoglobulin / Q000528:radiation effects*; D006801:Humans; D007075:Immunoglobulin M / Q000172:deficiency* / Q000235:genetics; D007148:Immunoglobulin mu-Chains / Q000235:genetics*; D008214:Lymphocytes / Q000473:pathology / Q000528:radiation effects; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011836:Radiation Tolerance / Q000235:genetics; D014466:Ultraviolet Rays
chemical_list: D007075:Immunoglobulin M; D007148:Immunoglobulin mu-Chains