Thomas J D, Sideras P, Smith C I, Vorechovský I, Chapman V, Paul W E
Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.
Science. 1993 Jul 16;261(5119):355-8. doi: 10.1126/science.8332900.
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.
携带X连锁免疫缺陷（xid）突变的小鼠存在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。对1114只后代进行的回交显示，xid与布鲁顿无丙种球蛋白血症酪氨酸激酶（btk）基因共定位，该基因与人类免疫缺陷疾病X连锁无丙种球蛋白血症有关。携带xid的小鼠存在一个错义突变，该突变改变了btk蛋白（Btk）氨基末端附近一个高度保守的精氨酸。由于Btk的这一区域位于任何明显的激酶结构域之外，xid突变可能定义了酪氨酸激酶功能的另一个方面。
