A wild-type mu s C-terminal gene is expressed in Bloom's syndrome cells.
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 mu (mu s) mRNA synthesis. The membrane-bound mu (mu m) and mu s mRNA are produced from transcripts of a single immunoglobulin mu gene by alternative RNA processing pathways. The control of mu s mRNA synthesis depends on the addition of poly(A) to mu s C-terminal segment. The study described here demonstrated that there was no mutation or deletion in the sequence including mu s C-terminal coding sequence, the RNA splice site (GG/TAAAC) at the 5' end of mu 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.
Ozawa
T
T
Department of Pediatrics, Gifu University School of Medicine, Japan.
Kondo
N
N
Kato
Y
Y
Motoyoshi
F
F
Suzuki
Y
Y
Shimozawa
N
N
Kasahara
K
K
Orii
T
T
D000328:Adult; D001483:Base Sequence; D001816:Bloom Syndrome / Q000235:genetics* / Q000276:immunology; D004247:DNA; D005260:Female; D005796:Genes; D005803:Genes, Immunoglobulin; D006801:Humans; D007148:Immunoglobulin mu-Chains / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D017422:Sequence Analysis, DNA
D007148:Immunoglobulin mu-Chains; D004247:DNA