PMID:10072069
| Citation |
Cressman, DE, Chin, KC, Taxman, DJ and Ting, JP (1999) A defect in the nuclear translocation of CIITA causes a form of type II bare lymphocyte syndrome. Immunity 10:163-71 |
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| Abstract |
The severe immunodeficiency type II bare lymphocyte syndrome (BLS) lacks class II MHC gene transcription. One defect from a complementation group A type II BLS patient is a 24 aa deletion in the MHC class II transactivator (CIITA). We show here that the molecular defect present in this protein is a failure of CIITA to undergo nuclear translocation. This defect was mapped to a position-dependent, novel nuclear localization sequence that cannot be functionally replaced by a classical NLS. Fusion of this 5 aa motif to an unrelated protein leads to nuclear translocation. Furthermore, this motif is not critical for transactivation function. This is a description of a genetic disease resulting from a novel defect in the subcellular localization of a transcriptional coactivator. |
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| Keywords |
Amino Acid Sequence; Animals; COS Cells; Cells, Cultured; Fluorescent Antibody Technique; Genes, MHC Class II; Humans; Molecular Sequence Data; Nuclear Proteins; Severe Combined Immunodeficiency/genetics; Trans-Activators/physiology; Transcription, Genetic; Transfection; Translocation, Genetic |
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