Balancing Selection Maintains a Form of ERAP2 that Undergoes Nonsense-Mediated Decay and Affects Antigen Presentation

• Published in: PLoS genetics Vol. 6; no. 10; p. e1001157
• Main Authors: Andrés, Aida M., Dennis, Megan Y., Kretzschmar, Warren W., Cannons, Jennifer L., Lee-Lin, Shih-Queen, Hurle, Belen, Schwartzberg, Pamela L., Williamson, Scott H., Bustamante, Carlos D., Nielsen, Rasmus, Clark, Andrew G., Green, Eric D.
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 14.10.2010; Public Library of Science (PLoS)
• Subjects: African Continental Ancestry Group - genetics; Aminopeptidases - genetics; Aminopeptidases - immunology; Antigen Presentation; Asian Continental Ancestry Group - genetics; European Continental Ancestry Group - genetics; Evolutionary Biology/Human Evolution; Experiments; Gene Frequency; Genes; Genetic diversity; Genetics and Genomics/Bioinformatics; Genetics and Genomics/Genetics of the Immune System; Genetics and Genomics/Population Genetics; Genetics, Population; Genomes; Genotype; Haplotypes; Haplotypes - genetics; Histocompatibility Antigens Class I - immunology; Humans; Immune system; Immunology/Antigen Processing and Recognition; Immunology/Autoimmunity; Indians, North American - genetics; Minor Histocompatibility Antigens; Molecular Biology/RNA Splicing; Phylogeny; Polymorphism; Polymorphism, Single Nucleotide; Protein Biosynthesis; RNA Processing, Post-Transcriptional; RNA Splicing; Selection, Genetic

A remarkable characteristic of the human major histocompatibility complex (MHC) is its extreme genetic diversity, which is maintained by balancing selection. In fact, the MHC complex remains one of the best-known examples of natural selection in humans, with well-established genetic signatures and b...