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Title: | Effect of Specific Mutations in Cd300 Complexes Formation; Potential Implication of Cd300f in Multiple Sclerosis. |
Author: | Martínez Barriocanal, Águeda Arcas García, Andrea Magallon Lorenz, Miriam Ejarque Ortiz, Aroa Negro Demontel, M. Luciana Comas Casellas, Emma Schwartz Navarro, Simó Malhotra, Sunny Montalbán Gairín, Xavier Peluffo, Hugo Martín Andorrà, Margarita Comabella, Manuel Sayós Ortega, Juan |
Keywords: | Esclerosi múltiple Mutació (Biologia) Receptors cel·lulars Multiple sclerosis Mutation (Biology) Cell receptors |
Issue Date: | 19-Oct-2017 |
Publisher: | Nature Publishing Group |
Abstract: | Herein, we have used bioinformatics tools to predict five clusters defining ligand-binding sites on the extracellular domain of human CD300b receptor, presumably involved in the formation of both homodimers and heterodimers with other CD300 family members. Site-directed mutagenesis revealed residues glutamic acid 28 and glutamine 29 in cluster 5 to be necessary for the formation of CD300b complexes. Surprisingly, the disruption of cluster 2 and 4 reconstituted the binding capability lost by the mutation of residues glutamic acid 28 to alanine, glutamine 29 to alanine (E28A-Q29G). We identified a missense mutation arginine 33 to glutamine (R33Q) in CD300f by direct sequencing of exon 2 in peripheral blood samples from 50 patients with multiple sclerosis (MS). Levels of expression of CD300f were almost undetectable on monocytes from the patient bearing the R33Q mutation compared with healthy individuals. Whereas R33Q mutation had no effect in the formation of CD300f complexes, the inhibition of protein synthesis with cycloheximide indicated that CD300f R33Q is less stable than native CD300f. Finally, we report that the levels of expression of CD300f on the surface of classical and intermediate monocytes from MS patients are significantly lower when compared to the same cell populations in healthy individuals. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/s41598-017-12881-8 |
It is part of: | Scientific Reports, 2017, vol. 7, num. 13544 |
URI: | http://hdl.handle.net/2445/117815 |
Related resource: | https://doi.org/10.1038/s41598-017-12881-8 |
ISSN: | 2045-2322 |
Appears in Collections: | Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer) Articles publicats en revistes (Biomedicina) |
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