A Lack of Birbeck Granules in Langerhans Cells Is Associated with a Naturally Occurring Point Mutation in the Human Langerin Gene

• Published in: Journal of investigative dermatology Vol. 124; no. 4; pp. 714 - 717
• Main Authors: Verdijk, Pauline, Dijkman, Remco, Plasmeijer, Elsemieke I., Mulder, Aat A., Zoutman, Willem H., Mieke Mommaas, A., Tensen, Cornelis P.
• Format: Journal Article
• Language: English
• Published: Danvers, MA Elsevier Inc 01.04.2005; Nature Publishing; Elsevier Limited
• Subjects: Amino Acid Sequence; Antigens, CD; Antigens, Surface - genetics; Biological and medical sciences; Cells, Cultured; Cytoplasmic Granules - pathology; Cytoplasmic Granules - ultrastructure; Dermatology; DNA, Complementary; expression; Fibroblasts - cytology; Fibroblasts - physiology; GFP fusion protein; Green Fluorescent Proteins - genetics; heterozygosity; Humans; immunoelectron microscopy; Langerhans Cells - pathology; Langerhans Cells - physiology; Langerhans Cells - ultrastructure; Lectins, C-Type - genetics; Mannose-Binding Lectins - genetics; Medical sciences; Microscopy, Immunoelectron; Molecular Sequence Data; mutation PCR; nucleofection; Point Mutation; Polymerase Chain Reaction; heterozygosity; expression; immunoelectron microscopy; mutation PCR; nucleofection; GFP fusion protein; Human; Dermatology; Heterozygosity; Polymerase chain reaction; Association; Langerhans cell; Antigen presenting cell; Point mutation; Green fluorescent protein; Genetics; Immunoelectron microscopy; Molecular biology; Fusion protein; mutation PCR/expression/GFP fusion protein/nucleofection/immunoelectron microscopy/heterozygosity
• ISSN: 0022-202X; 1523-1747
• DOI: 10.1111/j.0022-202X.2005.23645.x

A heterozygous mutation in the Langerin gene corresponding to position 837 in the Langerin mRNA was identified in a person deficient in Birbeck granules (BG). This mutation results in an amino acid replacement of tryptophan by arginine at position 264 in the carbohydrate recognition domain of the Langerine protein. Expression of mutated Langerin in human fibroblasts induces tubular-like structures that are negative for BG-specific antibodies and do not resemble the characteristic structural features of BG.