Abstract
Mutations in the gene encoding Bruton's tyrosine kinase (btk) cause the B cell deficiency diseases X-linked agammaglobulinemia (XLA) in humans and X-linked immunodeficiency (xid) in mice. In vivo and in vitro studies indicate that the BTK protein is essential for B cell survival, cell cycle progression, and proliferation in response to B cell antigen receptor (BCR) stimulation. BCR stimulation leads to the activation of transcription factor nuclear factor (NF)-kappaB, which in turn regulates genes controlling B cell growth. We now demonstrate that a null mutation in btk known to cause the xid phenotype prevents BCR-induced activation of NF-kappaB. This defect can be rescued by reconstitution with wild-type BTK. This mutation also interferes with BCR-directed activation of IkappaB kinase (IKK), which normally targets the NF-kappaB inhibitor IkappaBalpha for degradation. Taken together, these findings indicate that BTK couples IKK and NF-kappaB to the BCR. Interference with this coupling mechanism may contribute to the B cell deficiencies observed in XLA and xid.
Publication types
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Agammaglobulinaemia Tyrosine Kinase
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Agammaglobulinemia / genetics
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Agammaglobulinemia / immunology
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Agammaglobulinemia / metabolism
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Animals
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B-Lymphocytes / immunology*
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B-Lymphocytes / metabolism*
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Base Sequence
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Cell Line
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Chickens
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DNA Primers / genetics
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Enzyme Activation
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Humans
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I-kappa B Kinase
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Immunologic Deficiency Syndromes / genetics
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Immunologic Deficiency Syndromes / immunology
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Immunologic Deficiency Syndromes / metabolism
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Mice
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Mice, Inbred C57BL
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Mice, Knockout
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NF-kappa B / metabolism*
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Protein Serine-Threonine Kinases / metabolism*
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Protein-Tyrosine Kinases / deficiency
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Protein-Tyrosine Kinases / genetics
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Protein-Tyrosine Kinases / metabolism*
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Receptors, Antigen, B-Cell / metabolism*
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Signal Transduction
Substances
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DNA Primers
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NF-kappa B
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Receptors, Antigen, B-Cell
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Protein-Tyrosine Kinases
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Agammaglobulinaemia Tyrosine Kinase
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BTK protein, human
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Btk protein, mouse
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Protein Serine-Threonine Kinases
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CHUK protein, human
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Chuk protein, mouse
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I-kappa B Kinase
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IKBKB protein, human
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IKBKE protein, human
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Ikbkb protein, mouse
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Ikbke protein, mouse