COLOCALIZATION OF X-LINKED AGAMMAGLOBULINEMIA AND X-LINKED IMMUNODEFICIENCY GENES
COLOCALIZATION OF X-LINKED AGAMMAGLOBULINEMIA AND X-LINKED IMMUNODEFICIENCY GENES
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DOI：
10.1126/science.8332900
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发表时间：
1993-07-16
期刊：
影响因子：
56.9
通讯作者：
PAUL, WE
中科院分区：
文献类型：
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作者：
THOMAS, JD;SIDERAS, P;PAUL, WE
携带 X 连锁免疫缺陷 (xid) 突变的小鼠具有 B 淋巴细胞特异性缺陷，导致无法对多糖抗原产生抗体反应。 1114 个后代的回交揭示了 xid 与布鲁顿无丙种球蛋白血症酪氨酸激酶 (btk) 基因的共定位，该基因与人类免疫缺陷、X 连锁无丙种球蛋白血症有关。携带 xid 的小鼠存在错义突变，该突变改变了 btk 蛋白 Btk 氨基末端附近高度保守的精氨酸。因为 Btk 的这个区域位于任何明显的激酶结构域之外，所以 xid 突变可能定义酪氨酸激酶功能的另一个方面。
Mice that bear the X-linked immunodeficiency (xid) mutation have a B lymphocyte-specific defect resulting in an inability to make antibody responses to polysaccharide antigens. A backcross of 1114 progeny revealed the colocalization of xid with Bruton's agammaglobulinemia tyrosine kinase (btk) gene, which is implicated in the human immune deficiency, X-linked agammaglobulinemia. Mice that carry xid have a missense mutation that alters a highly conserved arginine near the amino-terminus of the btk protein, Btk. Because this region of Btk lies outside any obvious kinase domain, the xid mutation may define another aspect of tyrosine kinase function.