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KMID : 0620920090410060381
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Experimental & Molecular Medicine
2009 Volume.41 No. 6 p.381 ~ p.386
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Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome
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Cho A-Ri
Yang Keum-Jin
Bae Yoon-Sun
Bahk Young-Yil
Kim Eun-Min
Lee Hyung-Nam
Kim Jeong-Ki
Park Won-Sang
Rhim Hyan-Shuk
Choi Soo-Young
Imanaka Tsuneo
Moon Sung-Dae
Yoon Jong-Bok
Kim Yoon Sung-Joo
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Abstract
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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.
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KEYWORD
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AAAS protein, human, gene expression profiling, protein transport
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