Positional cloning of the APECED gene

@article{Nagamine1997PositionalCO,
  title={Positional cloning of the APECED gene},
  author={Kentaro Nagamine and P{\"a}rt Peterson and Hamish S. Scott and Jun Kudoh and Shinsei Minoshima and Maarit Heino and Kai J. E. Krohn and Maria D. Lalioti and Primus E. Mullis and Stylianos E. Antonarakis and Kazuhiko Kawasaki and Shuichi Asakawa and Fumiaki Ito and Nobuyoshi Shimizu},
  journal={Nature Genetics},
  year={1997},
  volume={17},
  pages={393-398}
}
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… CONTINUE READING
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