PMID- 10049735
OWN - NLM
STAT- MEDLINE
DCOM- 19990311
LR  - 20081121
IS  - 0006-291X (Print)
IS  - 0006-291X (Linking)
VI  - 255
IP  - 2
DP  - 1999 Feb 16
TI  - Isolation and characterization of the mouse Aire gene.
PG  - 483-90
AB  - Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare
      autosomal recessive disorder characterized by Addison's disease and/or
      hypoparathyroidism and/or chronic mucocutaneous candidiasis. Patients may also
      have other clinical symptoms both within and outside the endocrine system, mainly
      as a result of autoimmunity against organ-specific autoantigens. The gene for
      APECED has recently been identified and termed AIRE (for AutoImmune REgulator).
      APECED is a model of organ-specific autoimmunity and isolation and
      characterization of the homologous mouse gene, Aire, will provide tools for
      dissection of the mechanisms underlying this human disorder and defining
      molecular pathways involved in organ-specific autoimmunity. We have isolated and 
      completely sequenced the mouse Aire gene which is split into 14 exons over 13 kb 
      and encodes a predicted protein of 552 amino acids. The predicted mouse and human
      AIRE proteins are 71% identical and contain motifs suggestive of a
      transcriptional regulator. Additional conserved motifs are emerging in the
      AIRE/Aire proteins including a nuclear localization signal, an "ASS" domain, and 
      a "SAND" domain. The human and mouse AIRE promoters have conserved sites for
      several thymus-specific transcription factors and others important in
      hematopoesis, consistent with its expression in rare cells of the thymus medulla,
      lymph nodes, and fetal liver. We have mapped mouse Aire to mouse chromosome 10 by
      FISH, to the same region as Pwp2 and Pfkl, confirming synteny to the
      corresponding region of human chromosome 21.
CI  - Copyright 1999 Academic Press.
FAU - Mittaz, L
AU  - Mittaz L
AD  - Division of Medical Genetics, University of Geneva, Medical School, Switzerland.
FAU - Rossier, C
AU  - Rossier C
FAU - Heino, M
AU  - Heino M
FAU - Peterson, P
AU  - Peterson P
FAU - Krohn, K J
AU  - Krohn KJ
FAU - Gos, A
AU  - Gos A
FAU - Morris, M A
AU  - Morris MA
FAU - Kudoh, J
AU  - Kudoh J
FAU - Shimizu, N
AU  - Shimizu N
FAU - Antonarakis, S E
AU  - Antonarakis SE
FAU - Scott, H S
AU  - Scott HS
LA  - eng
SI  - GENBANK/AJ007715
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Biochem Biophys Res Commun
JT  - Biochemical and biophysical research communications
JID - 0372516
RN  - 0 (3' Untranslated Regions)
RN  - 0 (APECED protein)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - 3' Untranslated Regions/chemistry
MH  - Animals
MH  - Chromosome Mapping
MH  - Female
MH  - *Genes
MH  - Humans
MH  - Mice
MH  - Mice, Inbred C57BL
MH  - Molecular Sequence Data
MH  - Polyendocrinopathies, Autoimmune/*genetics
MH  - Promoter Regions, Genetic
MH  - Repetitive Sequences, Nucleic Acid
MH  - Sequence Analysis, DNA
MH  - Sequence Homology, Nucleic Acid
MH  - Transcription Factors/chemistry/*genetics/*isolation & purification
EDAT- 1999/03/02 00:00
MHDA- 1999/03/02 00:01
CRDT- 1999/03/02 00:00
PHST- 1999/03/02 00:00 [pubmed]
PHST- 1999/03/02 00:01 [medline]
PHST- 1999/03/02 00:00 [entrez]
AID - S0006-291X(99)90223-1 [pii]
AID - 10.1006/bbrc.1999.0223 [doi]
PST - ppublish
SO  - Biochem Biophys Res Commun. 1999 Feb 16;255(2):483-90. doi:
      10.1006/bbrc.1999.0223.