Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome. - Archive ouverte HAL
Article Dans Une Revue Nature Immunology Année : 2002

Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome.

Nada Nekrep
  • Fonction : Auteur
Hermann M Wolf
  • Fonction : Auteur
Martha M Eibl
  • Fonction : Auteur
Matthias Geyer
B Matija Peterlin
  • Fonction : Auteur

Résumé

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.

Domaines

Cancer

Dates et versions

hal-00640955 , version 1 (14-11-2011)

Identifiants

Citer

Nada Nekrep, Nabila Jabrane-Ferrat, Hermann M Wolf, Martha M Eibl, Matthias Geyer, et al.. Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome.. Nature Immunology, 2002, 3 (11), pp.1075-81. ⟨10.1038/ni840⟩. ⟨hal-00640955⟩

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