Journal
AMERICAN JOURNAL OF PATHOLOGY
Volume 178, Issue 3, Pages 983-988Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.ajpath.2010.12.007
Keywords
-
Categories
Funding
- Children's Hospital of Philadelphia
- Jeffrey Modell Diagnostic Center
- Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (Brazil)
- Fundacao de Amparo a Pesquisa do Estado de Sao Paulo [09/51747-3]
- Conselho Nacional de Desenvolvimento Cientifico e Tecnologico [501332/2010-3]
- Penn Skin Disease Research Center [NIAMS P30 AR057217]
Ask authors/readers for more resources
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome, which is caused by mutation of the autoimmune regulator (AIRE) gene, is a highly variable disease characterized by multiple endocrine failure, chronic mucocutaneous candidiasis, and various ectodermal defects. AIRE is a transcriptional regulator classically expressed in medullary thymic epithelial cells, monocytes, macrophages, and dendritic cells. Previous studies have suggested that AIRE can shuttle between the nucleus and cytoplasm of cells, although its cytoplasmic functions are poorly characterized. Through mass spectrometry analysis of proteins co-immunoprecipitating with cytoplasmic AIRE, we identified a novel association of AIRE with the intermediate filament protein cytokeratin 17 (K17) in the THP-1 monocyte cell line. We confirmed AIRE expression in HaCaT epidermal keratinocytes, as well as its interaction with K17. Confocal microscopy of human fetal and adult scalp hair follicles demonstrated a cytoplasmic pattern of AIRE staining that moderately colocalized with K17. The cytoplasmic association of AIRE with the intermediate filament network in human epidermal and follicular keratinocytes may provide a new path to understanding the ectodermal abnormalities associated with the APECED syndrome. (Am J Pathol 2011, 178:983-988; DOI: 10.1016/j.ajpath.2010.12.007)
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available