{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T22:52:27Z","timestamp":1769727147818,"version":"3.49.0"},"reference-count":36,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,9,6]],"date-time":"2004-09-06T00:00:00Z","timestamp":1094428800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pigment Cell Research"],"published-print":{"date-parts":[[2004,10]]},"abstract":"<jats:p>Patients with the autosomal recessive <jats:italic>Griscelli\u2013Pruni\u00e9ras<\/jats:italic> syndrome type II are immunologically impaired and have an unusual silvery\u2010grey hypopigmented colour of scalp hair, eyelashes and eyebrows but no noteworthy pigmentary abnormalities of the skin. In most <jats:italic>Griscelli<\/jats:italic> patients, the <jats:italic>RAB27A<\/jats:italic> gene, which encodes a small GTPase that is associated with the melanosome membrane in melanocytes, is mutated. Here we discuss a genomic <jats:italic>RAB27A<\/jats:italic> deletion found in a 21\u2010month\u2010old Moroccan <jats:italic>Griscelli<\/jats:italic> patient. Additionally, we provide evidence that the loss of functional Rab27a in melanocytes of this <jats:italic>Griscelli<\/jats:italic> patient is partially compensated by the up\u2010regulation of Rab27b, a homologue of Rab27a. By real\u2010time quantitative PCR and western blot analysis, we found that Rab27b mRNA and protein, expressed at low levels in normal human melanocytes, is significantly up\u2010regulated in melanocytes derived from this patient. Our immunofluorescence and yeast two\u2010hybrid screening studies reveal that Rab27b can form a tripartite complex on the melanosome membrane with Melanophilin, a Rab27a effector, and protein products of Myosin Va transcripts that contain exon F. Our data suggest that up\u2010regulated Rab27b in melanocytes of the <jats:italic>Griscelli<\/jats:italic> patient can partially take over the function of Rab27a, which could explain the fact that this patient had an evenly pigmented skin and was able to tan.<\/jats:p>","DOI":"10.1111\/j.1600-0749.2004.00173.x","type":"journal-article","created":{"date-parts":[[2004,9,6]],"date-time":"2004-09-06T16:14:41Z","timestamp":1094487281000},"page":"498-505","source":"Crossref","is-referenced-by-count":39,"title":["Rab27b is Up\u2010Regulated in Human Griscelli Syndrome Type II Melanocytes and Linked to the Actin Cytoskeleton via Exon F\u2010Myosin Va Transcripts"],"prefix":"10.1111","volume":"17","author":[{"given":"Wendy","family":"Westbroek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo","family":"Lambert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sofie 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