Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome

A. Ri Cho, Keum Jin Yang, Yoonsun Bae, Yil Bahk Young, Eunmin Kim, Hyungnam Lee, Ki Kim Jeong, Wonsang Park, Hyanshuk Rhim, Young Choi Soo, Tsuneo Imanaka, Sungdae Moon, Jongbok Yoon, Kim Yoon Sungjoo

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19 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)381-386
Number of pages6
JournalExperimental and Molecular Medicine
Volume41
Issue number6
DOIs
Publication statusPublished - 2009 Jun 30

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Medicine
  • Molecular Biology
  • Clinical Biochemistry

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    Cho, A. R., Yang, K. J., Bae, Y., Young, Y. B., Kim, E., Lee, H., Jeong, K. K., Park, W., Rhim, H., Soo, Y. C., Imanaka, T., Moon, S., Yoon, J., & Sungjoo, K. Y. (2009). Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome. Experimental and Molecular Medicine, 41(6), 381-386. https://doi.org/10.3858/emm.2009.41.6.043