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

doi:10.3858/emm.2009.41.6.043

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

Department of Biochemistry

Research output: Contribution to journal › Article › peer-review

23 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 language	English
Pages (from-to)	381-386
Number of pages	6
Journal	Experimental and Molecular Medicine
Volume	41
Issue number	6
DOIs	https://doi.org/10.3858/emm.2009.41.6.043
Publication status	Published - 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

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

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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doi = "10.3858/emm.2009.41.6.043",

language = "English",

volume = "41",

pages = "381--386",

journal = "Experimental and Molecular Medicine",

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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

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

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