Positional cloning of the APECED gene

Kentaro Nagamine, Pärt Peterson, Hamish S. Scott, Jun Kudoh, Shinsei Minoshima, Maarit Heino, Kai J.E. Krohn, Maria D. Lalioti, Primus E. Mullis, Stylianos E. Antonarakis, Kazuhiko Kawasaki, Shuichi Asakawa, Fumiaki Ito, Nobuyoshi Shimizu

研究成果: Article査読

1119 被引用数 (Scopus)


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.

ジャーナルNature genetics
出版ステータスPublished - 1997

ASJC Scopus subject areas

  • 遺伝学


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