title: Two novel CD1 E alleles identified in black African individuals.
abstract: 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.
authors.affiliation: Laboratoire d'Immunologie et d'Histocompatibilité AP-HP, IUH and INSERM U396, Hôpital Saint-Louis, Paris, France. tamouza@hosto.chu-stlouis.fr
authors.forename: R
authors.initials: R
authors.lastname: Tamouza
authors.forename: R
authors.initials: R
authors.lastname: Sghiri
authors.forename: R
authors.initials: R
authors.lastname: Ramasawmy
authors.forename: M G
authors.initials: MG
authors.lastname: Neonato
authors.forename: L E
authors.initials: LE
authors.lastname: Mombo
authors.forename: J C
authors.initials: JC
authors.lastname: Poirier
authors.forename: V
authors.initials: V
authors.lastname: Schaeffer
authors.forename: C
authors.initials: C
authors.lastname: Fortier
authors.forename: D
authors.initials: D
authors.lastname: Labie
authors.forename: R
authors.initials: R
authors.lastname: Girot
authors.forename: A
authors.initials: A
authors.lastname: Toubert
authors.forename: R
authors.initials: R
authors.lastname: Krishnamoorthy
authors.forename: D
authors.initials: D
authors.lastname: Charron
mesh_terms: D000349:Africa; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution / Q000235:genetics; D018949:Antigens, CD1 / Q000235:genetics*; D001483:Base Sequence; D044383:Black People / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic
chemical_list: D018949:Antigens, CD1; C417738:CD1e antigen