title: Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice.
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.
authors.affiliation: Department of Microbiology and Molecular Genetics, University of California, Los Angeles 90024.
authors.forename: D J
authors.initials: DJ
authors.lastname: Rawlings
authors.forename: D C
authors.initials: DC
authors.lastname: Saffran
authors.forename: S
authors.initials: S
authors.lastname: Tsukada
authors.forename: D A
authors.initials: DA
authors.lastname: Largaespada
authors.forename: J C
authors.initials: JC
authors.lastname: Grimaldi
authors.forename: L
authors.initials: L
authors.lastname: Cohen
authors.forename: R N
authors.initials: RN
authors.lastname: Mohr
authors.forename: J F
authors.initials: JF
authors.lastname: Bazan
authors.forename: M
authors.initials: M
authors.lastname: Howard
authors.forename: N G
authors.initials: NG
authors.lastname: Copeland
mesh_terms: D000077329:Agammaglobulinaemia Tyrosine Kinase; D000595:Amino Acid Sequence; D000818:Animals; D001402:B-Lymphocytes / Q000201:enzymology* / Q000276:immunology; D001483:Base Sequence; D002460:Cell Line; D002874:Chromosome Mapping; D003433:Crosses, Genetic; D005091:Exons; D005260:Female; D008040:Genetic Linkage; D007153:Immunologic Deficiency Syndromes / Q000201:enzymology / Q000235:genetics* / Q000276:immunology; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008808:Mice, Inbred CBA; D008811:Mice, Inbred DBA; D008817:Mice, Mutant Strains; D008969:Molecular Sequence Data; D011505:Protein-Tyrosine Kinases / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D014960:X Chromosome
chemical_list: D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human; C000625951:Btk protein, mouse