Colocalization of X-Linked Agammaglobulinemia and X-Linked Immunodeficiency Genes
SciencePublished 16 July 1993
Jeffrey Thomas, Paschalis Sideras, C. I. Edvard Smith, Igor Vořechovský, Verne M. Chapman, William E. Paul
Citations624
SJR quartileQ1
SJR score10.42
SNIP6.62
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TL;DR
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, and 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.
Abstract
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.
Keywords
Immunology and MicrobiologyBiochemistry, Genetics and Molecular Biology
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