1. Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome
- Author
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A-Ri Cho, Keum-Jin Yang, Sung-Dae Moon, Hyungnam Lee, Won-Sang Park, Tsuneo Imanaka, Jong Bok Yoon, Hyanshuk Rhim, Jeong Ki Kim, Eunmin Kim, Yoonsun Bae, Sungjoo Kim Yoon, Young Yil Bahk, and Soo Young Choi
- Subjects
DNA, Complementary ,Clinical Biochemistry ,Nerve Tissue Proteins ,Biology ,Triple-A syndrome ,Biochemistry ,Antibodies ,medicine ,Humans ,Tissue Distribution ,RNA, Messenger ,Northern blot ,Cloning, Molecular ,Molecular Biology ,Gene ,Messenger RNA ,Lacrimal Apparatus Diseases ,Gene Expression Profiling ,Genetic disorder ,Syndrome ,medicine.disease ,Subcellular localization ,Molecular biology ,Transport protein ,Esophageal Achalasia ,Nuclear Pore Complex Proteins ,Gene expression profiling ,Mutagenesis, Site-Directed ,Nuclear Pore ,Molecular Medicine ,Original Article ,Adrenal Insufficiency ,HeLa Cells - 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.
- Published
- 2009
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