Positional cloning of the APECED gene
| ISSN: | 1546-1718 1061-4036 |
|---|---|
| DOI: | 10.1038/ng1297-393 |
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd8a6c8a8e5b14253107096e4d48c14b https://doi.org/10.1038/ng1297-393 |
| Rights: | RESTRICTED |
| Přírůstkové číslo: | edsair.doi.dedup.....dd8a6c8a8e5b14253107096e4d48c14b |
| Autor: | Stylianos E. Antonarakis, Kazuhiko Kawasaki, Maarit Heino, Hamish S. Scott, Nobuyoshi Shimizu, Shuichi Asakawa, Maria D. Lalioti, Kentaro Nagamine, Primus E. Mullis, Shinsei Minoshima, Fumiaki Ito, Pärt Peterson, Kai Krohn, Jun Kudoh |
| Rok vydání: | 1997 |
| Předmět: |
animal structures
Positional cloning Chromosomes Human Pair 21 DNA Mutational Analysis Molecular Sequence Data Transcription Factors/biosynthesis/chemistry/ genetics Biology Organ Specificity/genetics Gene mapping Genetics medicine Humans RNA Messenger Amino Acid Sequence Polyendocrinopathies Autoimmune/ genetics Cloning Molecular Polyendocrinopathies Autoimmune Gene ddc:616 Zinc Fingers/genetics Zinc Fingers Autoimmune polyendocrinopathy RNA Messenger/biosynthesis medicine.disease Autoimmune regulator Cloning Molecular/ methods Stop codon Autoimmune polyendocrine syndrome type 1 Haplotypes Organ Specificity Autoimmune polyendocrine syndrome Transcription Factors |
| Zdroj: | Scopus-Elsevier Nature Genetics, Vol. 17, No 4 (1997) pp. 393-398 |
| ISSN: | 1546-1718 1061-4036 |
| DOI: | 10.1038/ng1297-393 |
| Popis: | Autoimmune polyglandular syndrome type I (APS 1, also called APECED) is an autosomal-recessive disorder that maps to human chromosome 21q22.3 between markers D21S49 and D21S171 by linkage studies. We have isolated a novel gene from this region, AIRE (autoimmune regulator), which encodes a protein containing motifs suggestive of a transcription factor including two zinc-finger (PHD-finger) motifs, a proline-rich region and three LXXLL motifs. Two mutations, a C-->T substitution that changes the Arg 257 (CGA) to a stop codon (TGA) and an A-->G substitution that changes the Lys 83 (AAG) to a Glu codon (GAG), were found in this novel gene in Swiss and Finnish APECED patients. The Arg257stop (R257X) is the predominant mutation in Finnish APECED patients, accounting for 10/12 alleles studied. These results indicate that this gene is responsible for the pathogenesis of APECED. The identification of the gene defective in APECED should facilitate the genetic diagnosis and potential treatment of the disease and further enhance our general understanding of the mechanisms underlying autoimmune diseases. |
| Databáze: | OpenAIRE |
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