title: Population genetics and functions of the autoimmune regulator (AIRE).
abstract: The autoimmune polyglandular syndrome type 1 (APS1), also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APS1), is a monogenic autosomal disease with recessive inheritance. It is characterized by chronic mucocutaneous candidiasis, multiple autoimmune endocrinopathies, and ectodermal dystrophies. The defective gene responsible for this disease has been identified and named "autoimmune regulator" (AIRE). The AIRE gene is located on chromosome 21q22.3. At least 45 different disease-causing mutations in AIRE have been discovered. This review summarizes the global distribution of AIRE mutations and the relevance of major mutations to the clinical disorders associated with APS1. We also will review studies on the structure and DNA-binding ability of the AIRE protein and the possible malfunctions of the AIRE protein as a result of major disease-causing mutations.
authors.affiliation: Department of Pathology, Immunology, and Laboratory Medicine, Center for Mammalian Genetics and Diabetes Center of Excellence, College of Medicine, Box 100275, University of Florida, Gainesville, FL 32610, USA.
authors.forename: Pradeep G
authors.initials: PG
authors.lastname: Kumar
authors.forename: Malini
authors.initials: M
authors.lastname: Laloraya
authors.forename: Jin-Xiong
authors.initials: JX
authors.lastname: She
mesh_terms: D001665:Binding Sites; D004247:DNA / Q000378:metabolism; D005828:Genetics, Population; D006801:Humans; D008958:Models, Molecular; D009154:Mutation; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics; D013329:Structure-Activity Relationship; D014157:Transcription Factors / Q000032:analysis / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D000096927:AIRE Protein
chemical_list: D004247:DNA; D014157:Transcription Factors; D000096927:AIRE Protein