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Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-myosin Va transcripts

(2004) PIGMENT CELL RESEARCH. 17(5). p.498-505
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Abstract
Patients with the autosomal recessive Griscelli-Prunieras syndrome type II are immunologically impaired and have an unusual silvery-grey hypopigmented colour of scalp hair, eyelashes and eyebrows but no noteworthy pigmentary abnormalities of the skin. In most Griscelli patients, the RAB27A gene, which encodes a small GTPase that is associated with the melanosome membrane in melanocytes, is mutated. Here we discuss a genomic RAB27A deletion found in a 21-month-old Moroccan Griscelli patient. Additionally, we provide evidence that the loss of functional Rab27a in melanocytes of this Griscelli patient is partially compensated by the up-regulation of Rab27b, a homologue of Rab27a. By real-time quantitative PCR and western blot analysis, we found that Rab27b mRNA and protein, expressed at low levels in normal human melanocytes, is significantly up-regulated in melanocytes derived from this patient. Our immunofluorescence and yeast two-hybrid 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-regulated Rab27b in melanocytes of the Griscelli 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.
Keywords
NEUROLOGICAL INVOLVEMENT, Griscelli syndrome, MELANOSOME TRANSPORT, MUTATIONS, GENE, PROTEINS, DISEASE, GTPASES, TYROSINASE, MOVEMENT, RECEPTOR, melanocyte, melanosome, myosin Va, melanophilin, RAB27B, RAB27A

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Citation

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Chicago
Westbroek, Wendy, Jo Lambert, Sofie De Schepper, Robert Kleta, Karolien Van Den Bossche, Miguel C Seabra, Marjan Huizing, Mieke Mommaas, and Jean Naeyaert. 2004. “Rab27b Is Up-regulated in Human Griscelli Syndrome Type II Melanocytes and Linked to the Actin Cytoskeleton via Exon F-myosin Va Transcripts.” Pigment Cell Research 17 (5): 498–505.
APA
Westbroek, W., Lambert, J., De Schepper, S., Kleta, R., Van Den Bossche, K., Seabra, M. C., Huizing, M., et al. (2004). Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-myosin Va transcripts. PIGMENT CELL RESEARCH, 17(5), 498–505.
Vancouver
1.
Westbroek W, Lambert J, De Schepper S, Kleta R, Van Den Bossche K, Seabra MC, et al. Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-myosin Va transcripts. PIGMENT CELL RESEARCH. 2004;17(5):498–505.
MLA
Westbroek, Wendy, Jo Lambert, Sofie De Schepper, et al. “Rab27b Is Up-regulated in Human Griscelli Syndrome Type II Melanocytes and Linked to the Actin Cytoskeleton via Exon F-myosin Va Transcripts.” PIGMENT CELL RESEARCH 17.5 (2004): 498–505. Print.
@article{305305,
  abstract     = {Patients with the autosomal recessive Griscelli-Prunieras syndrome type II are immunologically impaired and have an unusual silvery-grey hypopigmented colour of scalp hair, eyelashes and eyebrows but no noteworthy pigmentary abnormalities of the skin. In most Griscelli patients, the RAB27A gene, which encodes a small GTPase that is associated with the melanosome membrane in melanocytes, is mutated. Here we discuss a genomic RAB27A deletion found in a 21-month-old Moroccan Griscelli patient. Additionally, we provide evidence that the loss of functional Rab27a in melanocytes of this Griscelli patient is partially compensated by the up-regulation of Rab27b, a homologue of Rab27a. By real-time quantitative PCR and western blot analysis, we found that Rab27b mRNA and protein, expressed at low levels in normal human melanocytes, is significantly up-regulated in melanocytes derived from this patient. Our immunofluorescence and yeast two-hybrid 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-regulated Rab27b in melanocytes of the Griscelli 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.},
  author       = {Westbroek, Wendy and Lambert, Jo and De Schepper, Sofie and Kleta, Robert and Van Den Bossche, Karolien and Seabra, Miguel C and Huizing, Marjan and Mommaas, Mieke and Naeyaert, Jean},
  issn         = {0893-5785},
  journal      = {PIGMENT CELL RESEARCH},
  language     = {eng},
  number       = {5},
  pages        = {498--505},
  title        = {Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-myosin Va transcripts},
  url          = {http://dx.doi.org/10.1111/j.1600-0749.2004.00173.x},
  volume       = {17},
  year         = {2004},
}

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