Abstract
The cytoplasmic tyrosine kinase, Bruton's tyrosine kinase (Btk, formerly bpk or atk), is crucial for B cell development. Loss of kinase activity results in the human immunodeficiency, X-linked agammaglobulinemia, characterized by a failure to produce B cells. In the murine X-linked immunodeficiency (XID), B cells are present but respond abnormally to activating signals. The Btk gene, btk, was mapped to the xid region of the mouse X chromosome by interspecific backcross analysis. A single conserved residue within the amino terminal unique region of Btk was mutated in XID mice. This change in xid probably interferes with normal B cell signaling mediated by Btk protein interactions.
Publication types
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Research Support, Non-U.S. Gov't
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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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Amino Acid Sequence
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Animals
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B-Lymphocytes / enzymology*
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B-Lymphocytes / immunology
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Base Sequence
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Cell Line
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Chromosome Mapping
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Crosses, Genetic
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Exons
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Female
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Genetic Linkage
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Immunologic Deficiency Syndromes / enzymology
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Immunologic Deficiency Syndromes / genetics*
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Immunologic Deficiency Syndromes / immunology
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Male
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Mice
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Mice, Inbred C57BL
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Mice, Inbred CBA
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Mice, Inbred DBA
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Mice, Mutant Strains
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Molecular Sequence Data
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Protein-Tyrosine Kinases / chemistry
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Protein-Tyrosine Kinases / genetics*
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Protein-Tyrosine Kinases / metabolism
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X Chromosome*
Substances
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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