Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes - PubMed (original) (raw)

. 1993 Jul 16;261(5119):355-8.

doi: 10.1126/science.8332900.

Affiliations

• PMID: 8332900
• DOI: 10.1126/science.8332900

Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes

J D Thomas et al. Science. 1993.

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.

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