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 language | English |
|---|---|
| Pages (from-to) | 205-211 |
| Number of pages | 7 |
| Journal | Human Mutation |
| Volume | 18 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - 2001 |
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Keywords
- AIRE
- APECED
- APS1
- APSI
- Autoimmunity
- Mutation analysis
- Polyendocrinopathy
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
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 journal › Article
}
TY - JOUR
T1 - APECED mutations in the autoimmune regulator (AIRE) gene
AU - Heino, Maarit
AU - Peterson, Prt
AU - Kudo, Jun
AU - Shimizu, Nobuyoshi
AU - Antonarakis, Stylianos E.
AU - Scott, Hamish S.
AU - Krohn, Kai
PY - 2001
Y1 - 2001
N2 - 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.
AB - 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.
KW - AIRE
KW - APECED
KW - APS1
KW - APSI
KW - Autoimmunity
KW - Mutation analysis
KW - Polyendocrinopathy
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UR - http://www.scopus.com/inward/citedby.url?scp=0034869235&partnerID=8YFLogxK
U2 - 10.1002/humu.1176
DO - 10.1002/humu.1176
M3 - Article
C2 - 11524731
AN - SCOPUS:0034869235
VL - 18
SP - 205
EP - 211
JO - Human Mutation
JF - Human Mutation
SN - 1059-7794
IS - 3
ER -