{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T06:55:50Z","timestamp":1792133750596,"version":"4.4.0"},"reference-count":33,"publisher":"Rockefeller University Press","issue":"4","content-domain":{"domain":["rupress.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2001,2,19]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1083\/jcb.152.4.843","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T16:46:23Z","timestamp":1027701983000},"page":"843-850","update-policy":"https:\/\/doi.org\/10.1083\/jcb.crossmarkpolicy","source":"Crossref","is-referenced-by-count":209,"title":["Rab27a"],"prefix":"10.1083","volume":"152","author":[{"given":"Philippe","family":"Bahadoran","sequence":"first","affiliation":[{"name":"aUnit\u00e9 de Recherches sur la Biologie et la Physiopathologie de la Peau, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U385, Facult\u00e9 de M\u00e9decine, 06107 Nice Cedex 2, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edith","family":"Aberdam","sequence":"additional","affiliation":[{"name":"aUnit\u00e9 de Recherches sur la Biologie et la Physiopathologie de la Peau, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U385, Facult\u00e9 de M\u00e9decine, 06107 Nice Cedex 2, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Mantoux","sequence":"additional","affiliation":[{"name":"aUnit\u00e9 de Recherches sur la Biologie et la Physiopathologie de la Peau, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U385, Facult\u00e9 de M\u00e9decine, 06107 Nice Cedex 2, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roser","family":"Busc\u00e0","sequence":"additional","affiliation":[{"name":"aUnit\u00e9 de Recherches sur la Biologie et la Physiopathologie de la Peau, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U385, Facult\u00e9 de M\u00e9decine, 06107 Nice Cedex 2, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Bille","sequence":"additional","affiliation":[{"name":"aUnit\u00e9 de Recherches sur la Biologie et la Physiopathologie de la Peau, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U385, Facult\u00e9 de M\u00e9decine, 06107 Nice Cedex 2, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nevin","family":"Yalman","sequence":"additional","affiliation":[{"name":"bIstanb\u00fbl School of Medicine, Pediatric Hematology\/Oncology, 34390 Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"de Saint-Basile","sequence":"additional","affiliation":[{"name":"cUnit\u00e9 de Recherches sur le D\u00e9veloppement Normal et Pathologique du Syst\u00e8me Immunitaire, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U429, H\u00f4pital Necker, 75743 Paris Cedex 15, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo","family":"Casaroli-Marano","sequence":"additional","affiliation":[{"name":"dDepartment of Cell Biology, University of Barcelona, 08028 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Paul","family":"Ortonne","sequence":"additional","affiliation":[{"name":"aUnit\u00e9 de Recherches sur la Biologie et la Physiopathologie de la Peau, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U385, Facult\u00e9 de M\u00e9decine, 06107 Nice Cedex 2, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Ballotti","sequence":"additional","affiliation":[{"name":"aUnit\u00e9 de Recherches sur la Biologie et la Physiopathologie de la Peau, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U385, Facult\u00e9 de M\u00e9decine, 06107 Nice Cedex 2, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"291","published-online":{"date-parts":[[2001,2,20]]},"reference":[{"key":"2023072211234626100_Aberdametal1993","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1242\/jcs.106.4.1015","article-title":"Repeated UVB irradiations do not have the same potential to promote stimulation of melanogenesis in cultured normal human melanocytes","volume":"106","author":"Aberdam","year":"1993","journal-title":"J. Cell Sci"},{"key":"2023072211234626100_N0x29da790N0x29ea690","doi-asserted-by":"crossref","first-page":"2139","DOI":"10.1074\/jbc.271.4.2139","article-title":"The mutation Gly142--&gt;Glu in human lipoprotein lipase produces a missorted protein that is diverted to lysosomes","volume":"271","author":"Busc\u00e0","year":"1996","journal-title":"J. Biol. Chem"},{"key":"2023072211234626100_Cheneyetal1993","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/S0092-8674(05)80080-7","article-title":"Brain myosin-V is a two-headed unconventional myosin with motor activity","volume":"75","author":"Cheney","year":"1993","journal-title":"Cell"},{"key":"2023072211234626100_Dufourcq-Lagelouseetal1999","first-page":"127","article-title":"Genetic basis of hemophagocytic lymphohistiocytosis syndrome","volume":"4","author":"Dufourcq-Lagelouse","year":"1999","journal-title":"Int. J. Mol. Med"},{"key":"2023072211234626100_Echardetal1998","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1126\/science.279.5350.580","article-title":"Interaction of a Golgi-associated kinesin-like protein with Rab6","volume":"279","author":"Echard","year":"1998","journal-title":"Science"},{"key":"2023072211234626100_Griscellietal1978","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1016\/0002-9343(78)90858-6","article-title":"A syndrome associating partial albinism and immunodeficiency","volume":"65","author":"Griscelli","year":"1978","journal-title":"Am. J. Med"},{"key":"2023072211234626100_Haraldssonetal1991","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1007\/BF02093723","article-title":"Griscelli disease with cerebral involvement","volume":"150","author":"Haraldsson","year":"1991","journal-title":"Eur. J. Pediatr"},{"key":"2023072211234626100_JimbowandSugiyama1998","first-page":"107","article-title":"Melanosomal translocation and transfer","volume-title":"The Pigmentary SystemPhysiology and Physiopathology","author":"Jimbow","year":"1998"},{"key":"2023072211234626100_Jimenezetal1989","doi-asserted-by":"crossref","first-page":"3397","DOI":"10.1016\/S0021-9258(18)94080-9","article-title":"Specific identification of an authentic clone for mammalian tyrosinase","volume":"264","author":"Jimenez","year":"1989","journal-title":"J. Biol. Chem"},{"key":"2023072211234626100_Kanitakisetal1991","first-page":"206","article-title":"Griscelli-Prunieras disease (partial albinism with immunodeficiency)","volume":"1","author":"Kanitakis","year":"1991","journal-title":"Eur. J. Dermatol"},{"key":"2023072211234626100_Kleinetal1994","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1016\/S0022-3476(05)82003-7","article-title":"Partial albinism with immunodeficiency (Griscelli syndrome)","volume":"125","author":"Klein","year":"1994","journal-title":"J. Pediatr"},{"key":"2023072211234626100_Lambertetal1998","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1046\/j.1523-1747.1998.00395.x","article-title":"Myosin V colocalizes with melanosomes and subcortical actin bundles not associated with stress fibers in human epidermal melanocytes","volume":"111","author":"Lambert","year":"1998","journal-title":"J. Invest. Dermatol"},{"key":"2023072211234626100_Mancinietal1998","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/S0190-9622(98)70568-7","article-title":"Partial albinism with immunodeficiencyGriscelli syndrome: report of a case and review of the literature","volume":"38","author":"Mancini","year":"1998","journal-title":"J. Am. Acad. Dermatol"},{"key":"2023072211234626100_N0x29da790N0x29eab10","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1038\/76024","article-title":"Mutations in RAB27A cause Griscelli syndrome associated with hemophagocytic syndrome","volume":"25","author":"Menasch\u00e9","year":"2000","journal-title":"Nat. Genet"},{"key":"2023072211234626100_Merceretal1991","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1038\/349709a0","article-title":"Novel myosin heavy chain encoded by murine dilute coat colour locus","volume":"349","author":"Mercer","year":"1991","journal-title":"Nature"},{"key":"2023072211234626100_Mermalletal1998","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1126\/science.279.5350.527","article-title":"Unconventional myosins in cell movement, membrane traffic, and signal transduction","volume":"279","author":"Mermall","year":"1998","journal-title":"Science"},{"key":"2023072211234626100_Mooreetal1988","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1093\/genetics\/119.4.933","article-title":"The murine dilute suppressor gene dsu suppresses the coat-color phenotype of three pigment mutations that alter melanocyte morphology, d, ash and ln","volume":"119","author":"Moore","year":"1988","journal-title":"Genetics"},{"key":"2023072211234626100_Nascimentoetal1997","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1091\/mbc.8.10.1971","article-title":"Subcellular localization of myosin-V in the B16 melanoma cells, a wild-type cell line for the dilute gene","volume":"8","author":"Nascimento","year":"1997","journal-title":"Mol. Biol. Cell"},{"key":"2023072211234626100_Nielsenetal1999","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/14075","article-title":"Rab5 regulates motility of early endosomes on microtubules","volume":"1","author":"Nielsen","year":"1999","journal-title":"Nat. Cell Biol"},{"key":"2023072211234626100_Pasturaletal1997","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1038\/ng0797-289","article-title":"Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene","volume":"16","author":"Pastural","year":"1997","journal-title":"Nat. Genet"},{"key":"2023072211234626100_Pasturaletal2000","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1006\/geno.1999.6081","article-title":"Two genes at the same 15q21 locus are responsible for Griscelli disease","volume":"63","author":"Pastural","year":"2000","journal-title":"Genomics"},{"key":"2023072211234626100_Provanceetal1996","doi-asserted-by":"crossref","first-page":"14554","DOI":"10.1073\/pnas.93.25.14554","article-title":"Cultured melanocytes from dilute mutant mice exhibit dendritic morphology and altered melanosome distribution","volume":"93","author":"Provance","year":"1996","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2023072211234626100_Russell1971","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/0027-5107(71)90036-4","article-title":"Definition of functional units in a small chromosomal segment of the mouse and its use in interpreting the nature of radiation-induced mutations","volume":"11","author":"Russell","year":"1971","journal-title":"Mutat. Res"},{"key":"2023072211234626100_Schottetal1999","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1083\/jcb.147.4.791","article-title":"The COOH-terminal domain of Myo2p, a yeast myosin V, has a direct role in secretory vesicle targeting","volume":"147","author":"Schott","year":"1999","journal-title":"J. Cell Biol"},{"key":"2023072211234626100_Seabraetal1993","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1126\/science.8380507","article-title":"Retinal degeneration in choroideremiadeficiency of rab geranylgeranyl transferase","volume":"259","author":"Seabra","year":"1993","journal-title":"Science"},{"key":"2023072211234626100_Silvers1979a","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/978-1-4612-6164-3_6","article-title":"Beige, silver, greying with age, and other determinants","volume-title":"The Coat Colors of Mice","author":"Silvers","year":"1979"},{"key":"2023072211234626100_Silvers1979b","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1007\/978-1-4612-6164-3_4","article-title":"Dilute and leaden, the p-locus, ruby-eye, and ruby-eye-2","volume-title":"The Coat Colors of Mice","author":"Silvers","year":"1979"},{"key":"2023072211234626100_Slotetal1991","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1083\/jcb.113.1.123","article-title":"Immunolocalization of the insulin regulatable glucose transporter in brown adipose tissue of the rat","volume":"141","author":"Slot","year":"1991","journal-title":"J. Cell Biol"},{"key":"2023072211234626100_Tolmachovaetal1999","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/S0378-1119(99)00371-6","article-title":"Cloning, mapping and characterization of the human RAB27A gene","volume":"239","author":"Tolmachova","year":"1999","journal-title":"Gene"},{"key":"2023072211234626100_Weietal1997","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1023\/A:1018659117569","article-title":"The predominant defect in dilute melanocytes is in melanosome distribution and not cell shape, supporting a role for myosin V in melanosome transport","volume":"18","author":"Wei","year":"1997","journal-title":"J. Muscle Res. Cell Motil"},{"key":"2023072211234626100_Wilsonetal2000","doi-asserted-by":"crossref","first-page":"7933","DOI":"10.1073\/pnas.140212797","article-title":"A mutation in Rab27a causes the vesicle transport observed in ashen mice","volume":"97","author":"Wilson","year":"2000","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"2023072211234626100_Wuetal1997","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1242\/jcs.110.7.847","article-title":"Myosin V associates with melanosomes in mouse melanocytesevidence that myosin V is an organelle motor","volume":"110","author":"Wu","year":"1997","journal-title":"J. Cell Sci"},{"key":"2023072211234626100_Wuetal1998","doi-asserted-by":"crossref","first-page":"1899","DOI":"10.1083\/jcb.143.7.1899","article-title":"Visualization of melanosome dynamics within wild-type and dilute melanocytes suggests aparadigm for myosin V function In vivo.","volume":"143","author":"Wu","year":"1998","journal-title":"J. Cell Biol."}],"container-title":["The Journal of Cell Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/rupress.org\/jcb\/article-pdf\/152\/4\/843\/1509181\/0005095.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/rupress.org\/jcb\/article-pdf\/152\/4\/843\/1509181\/0005095.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,22]],"date-time":"2023-07-22T11:25:12Z","timestamp":1690025112000},"score":1,"resource":{"primary":{"URL":"https:\/\/rupress.org\/jcb\/article\/152\/4\/843\/45805\/Rab27aA-Key-to-Melanosome-Transport-in-Human"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,2,19]]},"references-count":33,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2001,2,19]]}},"URL":"https:\/\/doi.org\/10.1083\/jcb.152.4.843","relation":{},"ISSN":["0021-9525","1540-8140"],"issn-type":[{"value":"0021-9525","type":"print"},{"value":"1540-8140","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,2,19]]}}}