Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome
Hiroshi Furukawa, … , Keiji Tanaka, Takeo Juji
Hiroshi Furukawa, … , Keiji Tanaka, Takeo Juji
Published March 1, 1999
Citation Information: J Clin Invest. 1999;103(5):755-758. https://doi.org/10.1172/JCI5335.
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Article

Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome

Abstract

Expression of histocompatibility leukocyte antigen (HLA) class I molecules on the cell surface depends on the heterodimer of the transporter associated with antigen processing 1 and 2 (TAP1 and TAP2), which transport peptides cleaved by proteasome to the class I molecules. Defects in the TAP2 protein have been reported in two families with HLA class I deficiency, the so-called bare lymphocyte syndrome (BLS) type I. We have, to our knowledge, identified for the first time a splice site mutation in the TAP1 gene of another BLS patient. In addition, class I heavy chains (HCs) did not form the normal complex with tapasin in the endoplasmic reticulum (ER) of the cells of our patient.

Authors

Hiroshi Furukawa, Shigeo Murata, Toshio Yabe, Naoki Shimbara, Naoto Keicho, Kouichi Kashiwase, Kaoru Watanabe, Yoshihide Ishikawa, Tatsuya Akaza, Kenji Tadokoro, Shigeto Tohma, Tetsufumi Inoue, Katsushi Tokunaga, Kazuhiko Yamamoto, Keiji Tanaka, Takeo Juji

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Sedimentation velocity analysis of HC, tapasin, and TAP in the microsome...
Sedimentation velocity analysis of HC, tapasin, and TAP in the microsomes of H39 and KMW-B2 cells. The digitonin-solubilized microsomes were analyzed by glycerol density gradient centrifugation as described in Methods. After centrifugation, the gradient was separated into 34 fractions of 1 ml each. Samples of the fractions were subjected to Western blot analysis. HC, heavy chain; Ab, antibody.