Isolation and characterization of the mouse Aire gene

Lauréane Mittaz, Colette Rossier, Maarit Heino, Pärt Peterson, Kai J E Krohn, Arnaud Gos, Michael A. Morris, Jun Kudo, Nobuyoshi Shimizu, Stylianos E. Antonarakis, Hamish S. Scott

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish
Pages (from-to)483-490
Number of pages8
JournalBiochemical and Biophysical Research Communications
Volume255
Issue number2
DOIs
Publication statusPublished - 1999 Feb 16

Fingerprint

Thymus
Genes
Autoimmune Polyendocrinopathies
Chromosomes
Autoimmunity
Dissection
Proteins
Autoantigens
Liver
Thymus Gland
Exons
Transcription Factors
Chronic Mucocutaneous Candidiasis
Synteny
Amino Acids
Addison Disease
Hypoparathyroidism
Nuclear Localization Signals
Chromosomes, Human, Pair 21
Chromosomes, Human, Pair 10

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology

Cite this

Mittaz, L., Rossier, C., Heino, M., Peterson, P., Krohn, K. J. E., Gos, A., ... Scott, H. S. (1999). Isolation and characterization of the mouse Aire gene. Biochemical and Biophysical Research Communications, 255(2), 483-490. https://doi.org/10.1006/bbrc.1999.0223

Isolation and characterization of the mouse Aire gene. / Mittaz, Lauréane; Rossier, Colette; Heino, Maarit; Peterson, Pärt; Krohn, Kai J E; Gos, Arnaud; Morris, Michael A.; Kudo, Jun; Shimizu, Nobuyoshi; Antonarakis, Stylianos E.; Scott, Hamish S.

In: Biochemical and Biophysical Research Communications, Vol. 255, No. 2, 16.02.1999, p. 483-490.

Research output: Contribution to journalArticle

Mittaz, L, Rossier, C, Heino, M, Peterson, P, Krohn, KJE, Gos, A, Morris, MA, Kudo, J, Shimizu, N, Antonarakis, SE & Scott, HS 1999, 'Isolation and characterization of the mouse Aire gene', Biochemical and Biophysical Research Communications, vol. 255, no. 2, pp. 483-490. https://doi.org/10.1006/bbrc.1999.0223
Mittaz L, Rossier C, Heino M, Peterson P, Krohn KJE, Gos A et al. Isolation and characterization of the mouse Aire gene. Biochemical and Biophysical Research Communications. 1999 Feb 16;255(2):483-490. https://doi.org/10.1006/bbrc.1999.0223
Mittaz, Lauréane ; Rossier, Colette ; Heino, Maarit ; Peterson, Pärt ; Krohn, Kai J E ; Gos, Arnaud ; Morris, Michael A. ; Kudo, Jun ; Shimizu, Nobuyoshi ; Antonarakis, Stylianos E. ; Scott, Hamish S. / Isolation and characterization of the mouse Aire gene. In: Biochemical and Biophysical Research Communications. 1999 ; Vol. 255, No. 2. pp. 483-490.
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