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

Research output: Contribution to journalArticle

18 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

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Adrenal Insufficiency
Esophageal Achalasia
Nervous System Diseases
Tissue
Membranes
Nuclear Envelope
Aspartic Acid
Tryptophan
Pancreas
Proteins
Genes
Molecular weight
Messenger RNA
Mutation
Inborn Genetic Diseases
Antibodies
Pituitary Gland
Adrenal Glands
Northern Blotting
Testis

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Medicine
  • Molecular Biology
  • Clinical Biochemistry

Cite this

Cho, A. Ri ; Yang, Keum Jin ; Bae, Yoonsun ; Young, Yil Bahk ; Kim, Eunmin ; Lee, Hyungnam ; Jeong, Ki Kim ; Park, Wonsang ; Rhim, Hyanshuk ; Soo, Young Choi ; Imanaka, Tsuneo ; Moon, Sungdae ; Yoon, Jongbok ; Sungjoo, Kim Yoon. / Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome. In: Experimental and Molecular Medicine. 2009 ; Vol. 41, No. 6. pp. 381-386.
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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.",
author = "Cho, {A. Ri} and Yang, {Keum Jin} and Yoonsun Bae and Young, {Yil Bahk} and Eunmin Kim and Hyungnam Lee and Jeong, {Ki Kim} and Wonsang Park and Hyanshuk Rhim and Soo, {Young Choi} and Tsuneo Imanaka and Sungdae Moon and Jongbok Yoon and Sungjoo, {Kim Yoon}",
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Cho, AR, Yang, KJ, Bae, Y, Young, YB, Kim, E, Lee, H, Jeong, KK, Park, W, Rhim, H, Soo, YC, Imanaka, T, Moon, S, Yoon, J & Sungjoo, KY 2009, 'Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome', Experimental and Molecular Medicine, vol. 41, no. 6, pp. 381-386. https://doi.org/10.3858/emm.2009.41.6.043

Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome. / Cho, A. Ri; Yang, Keum Jin; Bae, Yoonsun; Young, Yil Bahk; Kim, Eunmin; Lee, Hyungnam; Jeong, Ki Kim; Park, Wonsang; Rhim, Hyanshuk; Soo, Young Choi; Imanaka, Tsuneo; Moon, Sungdae; Yoon, Jongbok; Sungjoo, Kim Yoon.

In: Experimental and Molecular Medicine, Vol. 41, No. 6, 30.06.2009, p. 381-386.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome

AU - Cho, A. Ri

AU - Yang, Keum Jin

AU - Bae, Yoonsun

AU - Young, Yil Bahk

AU - Kim, Eunmin

AU - Lee, Hyungnam

AU - Jeong, Ki Kim

AU - Park, Wonsang

AU - Rhim, Hyanshuk

AU - Soo, Young Choi

AU - Imanaka, Tsuneo

AU - Moon, Sungdae

AU - Yoon, Jongbok

AU - Sungjoo, Kim Yoon

PY - 2009/6/30

Y1 - 2009/6/30

N2 - 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.

AB - 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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