Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10737867 | Free Radical Biology and Medicine | 2015 | 36 Pages |
Abstract
Nuclear factor (erythroid derived)-2 like 2 (NFE2L2), also known as nuclear factor erythroid 2 (NF-E2)-related factor 2 (Nrf2), is a ubiquitous transcription factor essential for protecting cells and tissues from oxidative stress-induced injury. Positional cloning and studies with Nrf2 knockout mice have identified important roles for this transcription factor in disease phenotypes for many organ systems. Studies have also characterized the means through which human Nrf2 is regulated and the mechanisms of interaction with antioxidant response elements (ARE) in promoters of effector genes. Moreover, single nucleotide polymorphisms (SNPs) in Nrf2 have been identified and evaluated for effects on gene expression and function, and translational investigations have sought to determine whether loss of function SNPs associate with disease progression. In this review, we present 1) an overview of the human Nrf2 gene and protein domain, 2) identification of genetic mutations in Nrf2 and associations of the mutations with multiple diseases, and 3) the role of somatic mutations in Nrf2 in diseases, primarily various cancers.
Keywords
CREBCCAAMDBPDGSK3ESCCAAONrf2VLBWNQO1NFE2L2CUL3β-TrCPNEHHO1FVRFEV1Nrf2-ECH homologyUTRkeap1FBfNAD(P)H:quinone oxidoreductase 1ROSAcute lung injuryAliGenome-wide associationcardiovascular diseaseCOPDChronic obstructive pulmonary diseaseComplex diseaseforearm blood flowSomaticmutationsforced expiratory volume in one secondCNSBronchopulmonary dysplasiaCVDNSCLCNon-small cell lung cancerage-related macular degenerationAge at onsetLinkage disequilibriumantioxidant response elementSystemic lupus erythematosusSLEGenome-wide association studiesGWASuntranslated regionMouseAREheme oxygenase 1cAMP response element binding proteinPromoterSingle nucleotide polymorphismSNPGeneticCatalogue of Somatic Mutations in CancerEsophageal squamous cell carcinomaCOSMICCullin 3Cholangiocarcinomaglycogen synthase kinase 3Reactive oxygen species
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Ageing
Authors
Hye-Youn Cho, Jacqui Marzec, Steven R. Kleeberger,