MUTATION OF UNIQUE REGION OF BRUTONS TYROSINE KINASE IN IMMUNODEFICIENT XID MICE
MUTATION OF UNIQUE REGION OF BRUTONS TYROSINE KINASE IN IMMUNODEFICIENT XID MICE
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DOI：
10.1126/science.8332901
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发表时间：
1993-07-16
期刊：
影响因子：
56.9
通讯作者：
WITTE, ON
中科院分区：
文献类型：
--
作者：
RAWLINGS, DJ;SAFFRAN, DC;WITTE, ON
细胞质酪氨酸激酶，布鲁顿酪氨酸激酶（Btk，以前称为bpk或atk），对B细胞发育至关重要。激酶活性的丧失导致人类免疫缺陷，X连锁无丙种球蛋白血症，其特征在于不能产生B细胞。在鼠X连锁免疫缺陷（XID）中，存在B细胞，但对激活信号反应异常。通过种间回交分析，将Btk基因定位于小鼠X染色体的xid区域。在XID小鼠中，Btk的氨基末端独特区域内的单个保守残基发生突变。xid的这种变化可能干扰由Btk蛋白相互作用介导的正常B细胞信号传导。
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.