APECED mutations in the autoimmune regulator (AIRE) gene

Maarit Heino, Prt Peterson, Jun Kudo, Nobuyoshi Shimizu, Stylianos E. Antonarakis, Hamish S. Scott, Kai Krohn

Research output: Contribution to journalArticle

106 Citations (Scopus)

Abstract

Autoimmune polyendocrinopathy candidiasis-ectodermal dystrophy (APECED) is a rare recessively inherited disorder caused by mutations in the AIRE (autoimmune regulator) gene. APECED is characterized by variable combinations of endocrine autoimmune diseases such as Addison's disease, hypoparathyroidism, and type 1 diabetes. The AIRE protein contains motifs suggestive of a transcription regulator and can activate transcription of a reporter gene when fused to a heterologous DNA biding domain. In this article, mutation analyses of over 200 APECED patients published by several laboratories are summarized. To date 42 different mutations have been identified. These mutations include nonsense and missense mutations, small insertions and deletions leading into frame shifts, and splice site mutations. Although mutations are spread throughout the coding region of the gene some hotspots emerge, including the more common and recurrent mutations R257X and 967-979del13bp. Some of the identified mutations have been shown to affect subcellular localization or transactivation properties of the protein, thus providing insights into the functional properties of the predicted protein motifs.

Original languageEnglish
Pages (from-to)205-211
Number of pages7
JournalHuman Mutation
Volume18
Issue number3
DOIs
Publication statusPublished - 2001

Fingerprint

Autoimmune Polyendocrinopathies
Regulator Genes
Mutation
Amino Acid Motifs
Endocrine System Diseases
Addison Disease
Hypoparathyroidism
Type 1 Autoimmune polyendocrinopathy syndrome
Nonsense Codon
Missense Mutation
Type 1 Diabetes Mellitus
Reporter Genes
Transcriptional Activation
Autoimmune Diseases

Keywords

  • AIRE
  • APECED
  • APS1
  • APSI
  • Autoimmunity
  • Mutation analysis
  • Polyendocrinopathy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Heino, M., Peterson, P., Kudo, J., Shimizu, N., Antonarakis, S. E., Scott, H. S., & Krohn, K. (2001). APECED mutations in the autoimmune regulator (AIRE) gene. Human Mutation, 18(3), 205-211. https://doi.org/10.1002/humu.1176

APECED mutations in the autoimmune regulator (AIRE) gene. / Heino, Maarit; Peterson, Prt; Kudo, Jun; Shimizu, Nobuyoshi; Antonarakis, Stylianos E.; Scott, Hamish S.; Krohn, Kai.

In: Human Mutation, Vol. 18, No. 3, 2001, p. 205-211.

Research output: Contribution to journalArticle

Heino, M, Peterson, P, Kudo, J, Shimizu, N, Antonarakis, SE, Scott, HS & Krohn, K 2001, 'APECED mutations in the autoimmune regulator (AIRE) gene', Human Mutation, vol. 18, no. 3, pp. 205-211. https://doi.org/10.1002/humu.1176
Heino M, Peterson P, Kudo J, Shimizu N, Antonarakis SE, Scott HS et al. APECED mutations in the autoimmune regulator (AIRE) gene. Human Mutation. 2001;18(3):205-211. https://doi.org/10.1002/humu.1176
Heino, Maarit ; Peterson, Prt ; Kudo, Jun ; Shimizu, Nobuyoshi ; Antonarakis, Stylianos E. ; Scott, Hamish S. ; Krohn, Kai. / APECED mutations in the autoimmune regulator (AIRE) gene. In: Human Mutation. 2001 ; Vol. 18, No. 3. pp. 205-211.
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