First Author | Rawlings DJ | Year | 1993 |
Journal | Science | Volume | 261 |
Issue | 5119 | Pages | 358-61 |
PubMed ID | 8332901 | Mgi Jnum | J:13209 |
Mgi Id | MGI:61415 | Doi | 10.1126/science.8332901 |
Citation | Rawlings DJ, et al. (1993) Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice. Science 261(5119):358-61 |
abstractText | 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. |