A lack of Birbeck granules in Langerhans cells is associated with a naturally occurring point mutation in the human Langerin gene

Journal of Investigative Dermatology

Volumn 124, Issue 4, 2005, Pages 714-717

  Verdijk, Pauline ^a   Dijkman, Remco ^a   Plasmeijer, Elsemieke I ^a   Mulder, Aat A ^a   Zoutman, Willem H ^a   Mommaas, A Mieke ^a   Tensen, Cornelis P ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Expression; GFP fusion protein; Heterozygosity; Immunoelectron microscopy; Mutation PCR; Nucleofection

Indexed keywords

ANTIBODY; ARGININE; CARBOHYDRATE; MESSENGER RNA; TRYPTOPHAN;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BIRBECK GRANULE; CELL GRANULE; CONTROLLED STUDY; FIBROBLAST; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HUMAN CELL; LANGERHANS CELL; LANGERIN GENE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; RAT;

EID: 16844369622     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0022-202X.2005.23645.x     Document Type: Article

References (7)

1. Birbeck MS, Breathnach AS, Everall JD: An electron microscope study of basal melanocytes and high-level clear cells (Langerhans cells) in vitiligo. J Invest Dermatol 37:51-63, 1961
2. Horton RM, Cai ZL, Ho SN, Pease LR: Gene splicing by overlap extension: Tailor-made genes using the polymerase chain reaction. Biotechniques 8:528-535, 1990
3. Mc Dermott R, Ziylan U, Spehner D, et al: Birbeck granules are subdomains of endosomal recycling compartment in human epidermal Langerhans cells, which form where Langerin accumulates. Mol Biol Cell 13:317-335, 2002
4. Mommaas M, Mulder A, Vermeer BJ, Koning F: Functional human epidermal Langerhans cells that lack Birbeck granules. J Invest Dermatol 103:807-810, 1994
5. Valladeau J, Clair-Moninot V, Dezutter-Dambuyant C, et al: Identification of mouse langerin/CD207 in Langerhans cells and some dendritic cells of lymphoid tissues. J Immunol 168:782-792, 2002
6. Valladeau J, Duvert-Frances V, Pin JJ, et al: The monoclonal antibody DCGM4 recognizes Langerin, a protein specific of Langerhans cells, and is rapidly internalized from the cell surface. Eur J Immunol 29:2695-2704, 1999
7. Valladeau J, Ravel O, Dezutter-Dambuyant C, et al: Langerin, a novel C-type lectin specific to Langerhans cells, is an endocytic receptor that induces the formation of Birbeck granules. Immunity 12:71-81, 2000