title: Speculations on ataxia-telangiectasia: defective regulation of the immunoglobulin gene superfamily.
abstract: In this short article, Raymond Peterson and Jane Funkhouser develop the argument that the common molecular mechanism linking the various clinical manifestations of ataxia-telangiectasia (AT) is a defect in the regulation of the immunoglobulin (Ig) gene superfamily. They propose that the AT gene codes for a protein essential for the orderly expression of this gene family, perhaps regulating the gene rearrangement process that appears to be a unique characteristic of this system. Members of the Ig gene superfamily play a major role in the development and operation of the immune and nervous systems, and any perturbation of their expression would be anticipated to produce a panoply of signs and symptoms, such as those characterizing the AT phenotype.
authors.forename: R D
authors.initials: RD
authors.lastname: Peterson
authors.forename: J D
authors.initials: JD
authors.lastname: Funkhouser
mesh_terms: D001260:Ataxia Telangiectasia / Q000235:genetics*; D005786:Gene Expression Regulation; D015321:Gene Rearrangement; D005803:Genes, Immunoglobulin; D006801:Humans; D005810:Multigene Family; D009474:Neurons / Q000166:cytology