An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
Authors:
- Johanna AaltonenJAJohanna Aaltonen
- Petra BjörsesPBPetra Björses
- Jaakko PerheentupaJPJaakko Perheentupa
- Nina Horelli–KuitunenNHNina Horelli–Kuitunen
- Aarno PalotieAPAarno Palotie
- Leena PeltonenLPLeena Peltonen
- Yeon Su LeeYLYeon Su Lee
- Fiona FrancisFFFiona Francis
- Steffen HenningSHSteffen Henning
- Cora ThielCTCora Thiel
- Hans LeharachHLHans Leharach
- Marie–Laure YaspoMYMarie–Laure Yaspo
- 1 December 1997
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 17 (4) , 399-403
Abstract
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is the only described systemic autoimmune disease with established monogenic background, and the first autoimmune disorder localized outside the major histocompatibility complex (MHC) region. The primary biochemical defect in APECED is unknown. We have isolated a novel gene, AIRE, encoding for a putative nuclear protein featuring two PHD-type zinc-finger motifs, suggesting its involvement in transcriptional regulation. Five mutations in AIRE are reported in individuals with this disorder. This is the first report of a single-gene defect causing a systemic human autoimmune disease, providing a tool for exploring the molecular basis of autoimmunity.Keywords
This publication has 31 references indexed in Scilit:
- Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domainNature Genetics, 1997
- A novel member of the RING finger family, KRIP-1, associates with the KRAB-A transcriptional repressor domain of zinc finger proteinsProceedings of the National Academy of Sciences, 1996
- Visual mapping by high resolution FISHTrends in Genetics, 1996
- The basis of autoimmunity: part II genetic predispositionImmunology Today, 1995
- The PHD finger: Implications for chromatin-mediated transcriptional regulationTrends in Biochemical Sciences, 1995
- An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21Nature Genetics, 1994
- The role of cell-mediated immunity in candidiasisTrends in Microbiology, 1994
- MHC genes in autoimmunityCurrent Opinion in Immunology, 1993
- Identification by molecular cloning of an autoantigen associated with Addison's disease as steroid 17α-hydroxylaseThe Lancet, 1992
- Clinical Variation of Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy (APECED) in a Series of 68 PatientsNew England Journal of Medicine, 1990