Immunoglobulin heavy chain variable region gene usage in human autoimmune diseases
The variable regions of immunoglobulin heavy and light chains are assembled in pre-B cells by the somatic joining of genetic elements which, in the chromosome, are separated by thousands of base pairs. The repertoire of germline variable region genes represents the substrate upon which diversity is generated in the antibody system, since the recombination of one among different available VH, D, and JH, as well as VL and JL gene segments, provides each B lymphocyte with a unique immunoglobulin receptor molecule. Diversity is enhanced several orders of magnitude by the generation of junctional amino acids during the process of rearrangement and the combinatorial association of heavy and light chains. Somatic mutation and gene conversion are additional mechanisms which, working upon the already assembled antibody molecule, lead to a practically unlimited number of antibody specificities (reviewed in Reference 1).
KeywordsPrimary Biliary Cirrhosis Gene Segment Primary Biliary Cirrhosis Patient Cold Agglutinin Light Chain Gene
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