1993•ScienceRequires access
Mutation of Unique Region of Bruton's Tyrosine Kinase in Immunodeficient XID Mice
David J. Rawlings, Douglas C. Saffran, Satoshi Tsukada, David A. Largaespada, J. Christopher Grimaldi, Lucie Cohen, Randolph N. Mohr, J. Fernando Bazán, Maureen Howard, Neal G. Copeland, Nancy A. Jenkins, Owen N. Witte
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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.