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

Citation
H. Furukawa et al., Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome, J CLIN INV, 103(5), 1999, pp. 755-758
Citations number
21
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Medical Research General Topics
Journal title
JOURNAL OF CLINICAL INVESTIGATION
ISSN journal
0021-9738 → ACNP
Volume
103
Issue
5
Year of publication
1999
Pages
755 - 758
Database
ISI
SICI code
0021-9738(199903)103:5<755:SASMOT>2.0.ZU;2-N
Abstract
Expression of histocompatibility leukocyte antigen (HLA) class I molecules on the cell surface depends on the heterodimer of the transporter associate d with antigen processing 1 and 2 (TAP1 and TAP2), which transport peptides cleaved by proteasome to the class I molecules. Defects in the TAP2 protei n have been reported in two families with HLA class I deficiency, the so-ca lled bare lymphocyte syndrome (BLS) type I. We have, to our knowledge, iden tified for the first time a splice site mutation in the TAP1 gene of anothe r BLS patient. In addition, class I heavy chains (HCs) did not form the nor mal complex with tapasin in the endoplasmic reticulum (ER) of the cells of our patient.