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

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A Lack of Birbeck Granules in Langerhans Cells Is Associated with a Naturally Occurring Point Mutation in the Human Langerin Gene Pauline Verdijk, Remco Dijkman, Elsemieke I. Plasmeijer, Aat A. Mulder, Willem H. Zoutman, A. Mieke Mommaas, Cornelis P. Tensen Journal of Investigative Dermatology Volume 124, Issue 4, Pages 714-717 (April 2005) DOI: 10.1111/j.0022-202X.2005.23645.x Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Analysis of the Langerin gene. (A) Representative example of a PCR analysis using Langerin-specific primers for exons 1–6 and as template genomic DNA of the index person lacking Birbeck granules (BG) (a), control DNA (b), or no template (c). Obtained PCR products were analyzed on a TBE-based agarose gel and stained with ethidium bromide. M denotes DNA marker (Generuler 100 bp ladder; Fermentas, St Leon-Rot, Germany); size in base pairs is given on the left. (B) Fragment of a sequence chromatogram of a PCR product representing exon 5 of the index person lacking BG. A double sequence (T/C) is detected at positions 837 and 880. Corresponding amino acids are given on top using single letter abbreviation. (C) Alignment of a conserved domain within the type II C-type lectin family of proteins. Arrow indicates conserved tryptophan residue (W) at position 264 within this family. Journal of Investigative Dermatology 2005 124, 714-717DOI: (10.1111/j.0022-202X.2005.23645.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Detection of Birbeck granules (BG) in Langerin expressing fibroblasts by electron microscopy. Human fibroblasts transfected with wild-type Langerin (A) or wild-type green fluorescent protein (GFP)-Langerin (B) show typical structures reminiscent of BG. Scale bar=150 nm. Journal of Investigative Dermatology 2005 124, 714-717DOI: (10.1111/j.0022-202X.2005.23645.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Immuno-electron microscopic analysis of green fluorescent protein (GFP)-Langerin expressing fibroblasts. (A, B) Typical anti-GFP (A) or DCGM4 (B) immunostaining of fibroblasts transfected with GFP-wild-type Langerin construct. (C) Representative example of an anti-GFP staining of fibroblasts transfected with GFP-mutant Langerin construct. Antibodies were detected with 15 nm protein A-gold. Scale bar=150 nm. Journal of Investigative Dermatology 2005 124, 714-717DOI: (10.1111/j.0022-202X.2005.23645.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions