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© The Rockefeller University Press, 0021-9525/2001//843 $5.00
The Journal of Cell Biology, Volume 152, Number 4, , 2001 843-850

Rab27a

Philippe Bahadoran^a, Edith Aberdam^a, Frédéric Mantoux^a, Roser Buscà^a, Karine Bille^a, Nevin Yalman^b, Geneviève de Saint-Basile^c, Ricardo Casaroli-Marano^d, Jean-Paul Ortonne^a, and Robert Ballotti^a

^a Unité de Recherches sur la Biologie et la Physiopathologie de la Peau, Institut National de la Santé et de la Recherche Médicale U385, Faculté de Médecine, 06107 Nice Cedex 2, France
^b Istanbûl School of Medicine, Pediatric Hematology/Oncology, 34390 Istanbul, Turkey
^c Unité de Recherches sur le Développement Normal et Pathologique du Système Immunitaire, Institut National de la Santé et de la Recherche Médicale U429, Hôpital Necker, 75743 Paris Cedex 15, France
^d Department of Cell Biology, University of Barcelona, 08028 Barcelona, Spain
Unité de Recherches sur la Biologie et la Physiopathologie de la Peau, INSERM U385, Faculté de Médecine, Avenue de Valombrose, 06107 Nice Cedex 2, France.33-4-93-81-14-0433-4-93-37-77-90

bahadora{at}unice.fr

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.

Key Words: melanocytes • melanosomes • transport • Rab27a • Griscelli syndrome

© 2001 The Rockefeller University Press

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This article has been cited by other articles:

• Deacon, S. W., Gelfand, V. I. (2001). Of Yeast, Mice, and Men: Rab Proteins and Organelle Transport. JCB 152: f21-f24 [Full Text]  

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