Genetic associations and functional characterization of M1 aminopeptidases and immune-mediated diseases

Agrawal, N. & Brown, M.A. (2014) Genetic associations and functional characterization of M1 aminopeptidases and immune-mediated diseases. Genes and Immunity, 15(8), pp. 521-527.

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Endosplasmic reticulum aminopeptidase 1 (ERAP1), endoplasmic reticulum aminopeptidase 2 (ERAP2) and puromycin-sensitive aminopeptidase (NPEPPS) are key zinc metallopeptidases that belong to the oxytocinase subfamily of M1 aminopeptidase family. NPEPPS catalyzes the processing of proteosome-derived peptide repertoire followed by trimming of antigenic peptides by ERAP1 and ERAP2 for presentation on major histocompatibility complex (MHC) Class I molecules. A series of genome-wide association studies have demonstrated associations of these aminopeptidases with a range of immune-mediated diseases such as ankylosing spondylitis, psoriasis, Behçet's disease, inflammatory bowel disease and type I diabetes, and significantly, genetic interaction between some aminopeptidases and HLA Class I loci with which these diseases are strongly associated. In this review, we highlight the current state of understanding of the genetic associations of this class of genes, their functional role in disease, and potential as therapeutic targets.

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2 citations in Scopus
5 citations in Web of Science®
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ID Code: 89079
Item Type: Journal Article
Refereed: Yes
Keywords: aminopeptidase, aminopeptidase ER1, aminopeptidase ER2, aminopeptidase M1, HLA antigen class 1, NPEPPS protein, unclassified drug, ERAP1 protein, human, ERAP2 protein, human, HLA antigen, metalloproteinase, NPEPPS protein, human, allele, ankylosing spondylitis, Behcet disease, chromosome 17q, enzyme analysis, enzyme inhibition, gene interaction, gene linkage disequilibrium, gene locus, genetic association, genetic polymorphism, haplotype, human, immunopathology, inflammatory bowel disease, insulin dependent diabetes mellitus, nonhuman, nonsense mediated mRNA decay, peripheral blood mononuclear cell, priority journal, psoriasis, Review, single nucleotide polymorphism, biological model, genetic predisposition, genetics, Aminopeptidases, Genetic Association Studies, Genetic Predisposition to Disease, HLA Antigens, Humans, Immune System Diseases, Metalloendopeptidases, Models, Genetic, Polymorphism, Single Nucleotide
DOI: 10.1038/gene.2014.46
ISSN: 1466-4879
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 15 Oct 2015 23:49
Last Modified: 26 Jun 2017 00:01

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