Colocalization of X-Linked Agammaglobulinemia and X-Linked Immunodeficiency Genes

作者：Jeffrey D. Thomas, Paschalis Sideras, C. I. Edvard Smith, Igor Vořechovský, Verne M. Chapman, William E. Paul · 发表于：Science · 年份：1993 · DOI：10.1126/science.8332900 · 被引用次数：624 · 研究领域：Immunodeficiency and Autoimmune Disorders、Blood disorders and treatments、Diabetes and associated disorders

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.