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A WILD‐TYPE μs C‐TERMINAL GENE IS EXPRESSED IN BLOOM'S SYNDROME CELLS
Author(s) -
Ozawa T.,
Kondo N.,
Kato Y.,
Motoyoshi F.,
Suzuki Y.,
Shimozawa N.,
K. Kasahara,
Orii T.
Publication year - 1994
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/j.1744-313x.1994.tb00184.x
Subject(s) - terminal (telecommunication) , bloom , genetics , gene , biology , microbiology and biotechnology , computer science , computer network , ecology
SUMMARY 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.