Inherited defects of immunoglobulin class switch recombination

Adv Exp Med Biol. 2010:685:166-74. doi: 10.1007/978-1-4419-6448-9_15.

Abstract

The investigation of an inherited primary immunodeficiency, the immunoglobulin class switch recombination deficiency, has allowed the delineation of complex molecular events that underlie antibody maturation in humans. The Activation-induced cytidine deaminase (AID)-deficiency, characterized by a defect in Class Switch Recombination (CSR) and somatic hypermutation, has revealed the master role of this molecule in the induction of DNA damage, the first step required for these two processes. The description that mutations in the gene encoding the Uracil-DNA glycosylase (UNG) lead to defective CSR has been essential for defining the DNA-editing activity of AID. Analysis of post meiotic segregation 2 (PMS2)-deficient patients gave evidence for the role of this mismatch repair enzyme in the generation of the DNA breaks that are required for CSR. Novel findings are awaited from the study ofyet-genetically undefined CSR-deficiencies, probably leading to the identification of AID cofactor(s) and/or proteins involved in CSR-induced DNA repair.

Publication types

  • Review

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Adenosine Triphosphatases / metabolism
  • Animals
  • Cytidine Deaminase / genetics
  • Cytidine Deaminase / metabolism
  • DNA Breaks
  • DNA Damage / genetics
  • DNA Repair / genetics
  • DNA Repair Enzymes / genetics
  • DNA Repair Enzymes / metabolism
  • DNA Repair-Deficiency Disorders* / enzymology
  • DNA Repair-Deficiency Disorders* / genetics
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism
  • Genetic Diseases, Inborn* / enzymology
  • Genetic Diseases, Inborn* / genetics
  • Humans
  • Immunoglobulin Class Switching*
  • Immunologic Deficiency Syndromes* / enzymology
  • Immunologic Deficiency Syndromes* / genetics
  • Mismatch Repair Endonuclease PMS2
  • Recombination, Genetic*
  • Somatic Hypermutation, Immunoglobulin*
  • Uracil-DNA Glycosidase / genetics
  • Uracil-DNA Glycosidase / metabolism

Substances

  • DNA-Binding Proteins
  • Uracil-DNA Glycosidase
  • AICDA (activation-induced cytidine deaminase)
  • Cytidine Deaminase
  • Adenosine Triphosphatases
  • PMS2 protein, human
  • Mismatch Repair Endonuclease PMS2
  • DNA Repair Enzymes