Genetics of antigen processing and presentation

• Published in: Immunogenetics (New York) Vol. 71; no. 3; pp. 161 - 170
• Main Authors: Kelly, Adrian, Trowsdale, John
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.03.2019; Springer Nature B.V
• Subjects: Allergology; Animals; Antigen presentation; Antigen Presentation - genetics; Antigen Presentation - immunology; Antigen processing; Antigens; Biology and Evolution of Antigen Presentation; Biomedical and Life Sciences; Biomedicine; Cell Biology; Gene expression; Gene Function; Genes; Genetics; Histocompatibility antigen HLA; Human Genetics; Humans; Immune response; Immune system; Immunogenetics; Immunology; Major histocompatibility complex; Major Histocompatibility Complex - genetics; Major Histocompatibility Complex - immunology; Microorganisms; Mutation; Peptides; Proteasomes; Review; Tapasin; Transcription; Antigen presentation; MHC; Genetics; HLA; Antigen processing
• DOI: 10.1007/s00251-018-1082-2
• ISSN: 0093-7711; 1432-1211

Immune response to disease requires coordinated expression of an army of molecules. The highly polymorphic MHC class I and class II molecules are key to control of specificity of antigen presentation. Processing of the antigen, to peptides or other moieties, requires other sets of molecules. For classical class I, this includes TAP peptide transporters, proteasome components and Tapasin, genes which are encoded within the MHC. Similarly, HLA-DO and -DM, which influence presentation by HLA class II molecules, are encoded in the MHC region. Analysis of MHC mutants, including point mutations and large deletions, has been central to understanding the roles of these genes. Mouse genetics has also played a major role. Many other genes have been identified including those controlling expression of HLA class I and class II at the transcriptional level. Another genetic approach that has provided insight has been the analysis of microorganisms, including viruses and bacteria that escape immune recognition by blocking these antigen processing and presentation pathways. Here, we provide a brief history of the genetic approaches, both traditional and modern, that have been used in the quest to understand antigen processing and presentation.