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          Institute: MPI für medizinische Forschung     Collection: Abteilung Biophysik     Display Documents



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ID: 23098.0, MPI für medizinische Forschung / Abteilung Biophysik
Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome
Translation of Title:Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome
Authors:Nekrep, Nada; Jabrane-Ferrat, Nabila; Wolf, Hermann M.; Eibl, Martha M.; Geyer, Matthias; Peterlin, Matija
Language:English
Date of Publication (YYYY-MM-DD):2002-09-30
Title of Journal:Nature Immunology
Journal Abbrev.:Nature Immunology
Volume:3
Start Page:1075
End Page:1081
Copyright:© Nature America, Inc.
Review Status:Peer-review
Audience:Experts Only
Intended Educational Use:No
Abstract / Description:Bare lymphocyte syndrome (BLS) is an autosomal recessive severe-combined immunodeficiency that can result from mutations in four different transcription factors that regulate the expression of major histocompatibility complex (MHC) class II genes. We have identified here the defective gene that is responsible for the phenotype of the putative fifth BLS complementation group. The mutation was found in the regulatory factor that binds X-box 5 (RFX5) and was mapped to one of the arginines in a DNA-binding surface of this protein. Its wild-type counterpart restored binding of the RFX complex to DNA, transcription of all MHC class II genes and the appearance of these determinants on the surface of BLS cells.
Comment of the Author/Creator:We thank P. Zupanc-Ecimovic for secretarial assistance; E. Vanin for the RD114 retroviral system and advice; G. Tosi for D1.12 and B7.21 antibodies; and other members of our laboratory for helpful discussions. Supported by the Peter und Traudl Engelhorn Stiftung (M. G.) and a grant from Nora Eccles Treadwell Foundation.
External Publication Status:published
Document Type:Article
Communicated by:Wulf Kaiser
Affiliations:MPI für medizinische Forschung/Abteilung Biophysik
External Affiliations:Departments of Medicine, Microbiology and Immunology, Rosalind Russell Medical Research Center, University of California, San Francisco, CA 94143-0703, USA; Institute of Biochemistry, Medical Faculty of the University of Ljubljana, Slovenia.
3 Immunology Outpatient Clinic, Vienna, Austria
Relations:-URI:http://dx.doi.org/10.1146%2Fannurev.immunol.8.1.681
-URI:http://dx.doi.org/10.1016%2FS0952-7915%2897%2980166-5
Identifiers:URI:http://www.nature.com/cgi-taf/DynaPage.taf?file=/n... [Fulltext HTML]
URI:http://www.nature.com/cgi-taf/DynaPage.taf?file=/n... [Abstract]
URI:http://www.nature.com/cgi-taf/DynaPage.taf?file=/n... [Fulltext PDF]
DOI:10.1038/ni840
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