The evolutionary and functional significance of germline immunoglobulin gene variation

Trends Immunol. 2023 Jan;44(1):7-21. doi: 10.1016/j.it.2022.11.001. Epub 2022 Dec 2.

Abstract

The recombination between immunoglobulin (IG) gene segments determines an individual's naïve antibody repertoire and, consequently, (auto)antigen recognition. Emerging evidence suggests that mammalian IG germline variation impacts humoral immune responses associated with vaccination, infection, and autoimmunity - from the molecular level of epitope specificity, up to profound changes in the architecture of antibody repertoires. These links between IG germline variants and immunophenotype raise the question on the evolutionary causes and consequences of diversity within IG loci. We discuss why the extreme diversity in IG loci remains a mystery, why resolving this is important for the design of more effective vaccines and therapeutics, and how recent evidence from multiple lines of inquiry may help us do so.

Keywords: adaptive immunity; affinity maturation; immunoglobulin; population genetics; somatic hypermutation.

Publication types

  • Review
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Biological Evolution
  • Genes, Immunoglobulin* / genetics
  • Germ Cells
  • Germ-Line Mutation*
  • Humans
  • Immunity, Humoral / genetics
  • Mammals