Please use this identifier to cite or link to this item: http://hdl.handle.net/2445/25216
Title: Rab27a: A key to melanosome transport in human melanocytes
Author: Bahadoran, Philippe
Aberdam, Edith
Mantoux, Frédéric
Buscà, Roser
Bille, Karine
Yalman, Nevin
Saint-Basile, Geneviève de
Casaroli Marano, Ricardo Pedro
Ortonne, Jean-Paul
Ballotti, Robert
Keywords: Melanoma
Fisiologia cel·lular
Fisiologia patològica
Melanoma
Cell physiology
Pathological physiology
Issue Date: 19-Feb-2001
Publisher: Rockefeller University Press
Abstract: Normal pigmentation depends on the uniform distribution of melanin-containing vesicles, the melanosomes, in the epidermis. Griscelli syndrome (GS) is a rare autosomal recessive disease, characterized by an immune deficiency and a partial albinism that has been ascribed to an abnormal melanosome distribution. GS maps to 15q21 and was first associated with mutations in the myosin-V gene. However, it was demonstrated recently that GS can also be caused by a mutation in the Rab27a gene. These observations prompted us to investigate the role of Rab27a in melanosome transport. Using immunofluorescence and immunoelectron microscopy studies, we show that in normal melanocytes Rab27a colocalizes with melanosomes. In melanocytes isolated from a patient with GS, we show an abnormal melanosome distribution and a lack of Rab27a expression. Finally, reexpression of Rab27a in GS melanocytes restored melanosome transport to dendrite tips, leading to a phenotypic reversion of the diseased cells. These results identify Rab27a as a key component of vesicle transport machinery in melanocytes.
Note: Reproducció digital del document publicat a: http://dx.doi.org/10.1083/jcb.152.4.843
It is part of: Journal of Cell Biology, 2001, vol. 152, núm. 4, p. 843-850
Related resource: http://dx.doi.org/10.1083/jcb.152.4.843
URI: http://hdl.handle.net/2445/25216
ISSN: 0021-9525
Appears in Collections:Articles publicats en revistes (Cirurgia i Especialitats Medicoquirúrgiques)

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