Tissue Antigens · 2002 · 21 citations · 9 references
Life SciencesGeneticsImmunologyHuman GeneticsImmunogeneticsMedical GeneticsAllele NomenclatureAntigen PresentationAntigen RecognitionHuman Leukocyte Antigen SystemMajor Histocompatibility ComplexVariant InterpretationAllele FrequencyHla Allele PolymorphismHla AllelesHla Genotype AssociationsHla Risk AllelesHuman Leukocyte Antigen GenesHuman Leukocyte Antigen GenotypeMhc Polymorphism
CD1 gene (CD1A to CD1E) products are involved in non-peptide antigen presentation, such as lipids and glycolipids, to T cells. With a similar function to MHC, namely antigen presentation, these genes nevertheless displayed a much lower level of polymorphism as compared to MHC. We report here two additional CD1E variants identified in black African individuals, designated herein CD1E*05 and CD1E*06. While the former differs from the common (wild type) allele sequence by two substitutions at nucleotide positions 217 and 229 of exon 2, the latter only by a single base change at position 91 of exon 3. These substitutions lead to amino acid changes at position 73 and 77 of the alpha1 domain in the former and at position 30 of the alpha2 domain in the latter. Identification of these additional variants suggests that the CD1 locus, especially the CD1E gene, is much more polymorphic than previously assumed.
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Crystal Structure of Mouse CD1: An MHC-Like Fold with a Large Hydrophobic Binding Groove
Zhiwei Zeng, A. Raúl Castaño, Brent W. Segelke et al. · Science · 1997 · 625 citations
Franco Calabi, John M. Jarvis, Luis Martin et al. · European Journal of Immunology · 1989 · 261 citations
Life Sciences, Genetics, Immunology +16
Nomenclature for factors of the HLA system, 2000
Steven G. E. Marsh, J. G. Bodmer, E. D. Albert et al. · Tissue Antigens · 2001 · 167 citations
Life Sciences, Genetics, Immunology +11
Polymorphism of human CD1 genes
Mei Han, Linda I. Hannick, M DiBrino et al. · Tissue Antigens · 1999 · 95 citations · Full text