Exp Mol Med.
2009 Jun;41(6):381-386. 10.3858/emm.2009.41.6.043.
Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome
- Affiliations
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- 1Research Institute of Molecular Genetics, The Catholic University of Korea, Seoul 137-040, Korea. sjkyoon@catholic.ac.kr
- 2Department of Biochemistry, PNRC, Yonsei University, Seoul 120-752, Korea.
- 3Department of Biomedical Sciences, The Catholic University of Korea, Seoul 137-040, Korea.
- 4Department of Pathology, The Catholic University of Korea, Seoul 137-040, Korea.
- 5Division of Life Sciences, College of Natural Sciences, Hallym University, Chuncheon 200-702, Korea.
- 6Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, 2630 Sugitani, Toyama 940-0194, Japan.
- 7Department of Internal Medicine, The Catholic University of Korea, Seoul 137-040, Korea.
- KMID: 756230
- DOI: http://doi.org/10.3858/emm.2009.41.6.043
Abstract
- Triple A syndrome is a rare genetic disorder caused by mutations in the achalasia-addisonianism-alacrima syndrome (AAAS) gene which encodes a tryptophan aspartic acid (WD) repeat-containing protein named alacrima-achalasia-adrenal insufficiency neurologic disorder (ALADIN). Northern blot analysis shows that the 2.1 kb AAAS mRNA is expressed in various tissues with stronger expression in testis and pancreas. We show that human ALADIN is a protein with an apparent molecular weight of 60 kDa, and expressed in the adrenal gland, pituitary gland and pancreas. Furthermore, biochemical analysis using anti-ALADIN antibody supports the previous finding of the localization of ALADIN in the nuclear membrane. The mutations S544G and S544X show that alteration of S544 residue affects correct targeting of ALADIN to the nuclear membrane.
MeSH Terms
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Adrenal Insufficiency/*genetics
Antibodies/immunology
Cloning, Molecular
DNA, Complementary/genetics
Esophageal Achalasia/*genetics
Gene Expression Profiling
Hela Cells
Humans
Lacrimal Apparatus Diseases/*genetics
Mutagenesis, Site-Directed
Nerve Tissue Proteins/*analysis/*genetics/immunology
Nuclear Pore/chemistry
Nuclear Pore Complex Proteins/*analysis/*genetics/immunology
RNA, Messenger/analysis/genetics
Syndrome
Tissue Distribution
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