Rab27a
Open accessAbstract
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.
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In humans, Rab27 mutations cause hypopigmentation associated with the immunodeficiency disorder Griscelli syndrome type II.
“In humans, Rab27 mutations cause hypopigmentation associated with the immunodeficiency disorder Griscelli syndrome type II [74].”
From Gene Expression Analysis of Zebrafish Melanocytes, Iridophores, and Retinal Pigmented Epithelium Reveals Indicators of Biological Function and Developmental Origin (2013) · cites this paper as [74]
The Abstract describes Griscelli syndrome as involving immune deficiency and partial albinism and says a Rab27a mutation can cause it. The Discussion also links absent Rab27a to pigmentary dilution in human patients. Our copy does not identify the condition specifically as Griscelli syndrome type II. (LLM, conf=0.83)
Experimental — accuracy not yet measuredA mutation of melanosome transport-related genes including Rab27a causes hair graying through Griscelli syndrome, a rare autosomal recessive disorder.
“A mutation of melanosome transport–related genes including Rab27a causes hair graying through the so-called Griscelli syndrome, a rare autosomal recessive disorder (39).”
From Reprogramming of three-dimensional microenvironments for in vitro hair follicle induction (2022) · cites this paper as [39]
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- Authors
- Bahadoran, P., Aberdam, E., Mantoux, F., Buscà, R., Bille, K., Yalman, N., de Saint-Basile, G., Casaroli-Marano, R., Ortonne, J.-P., & Ballotti, R.
- Affiliations
- Inserm (FR)
- aUnité 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
- Istanbul University (TR)
- cUnité 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
- Universitat de Barcelona (ES)
- Venue
- The Journal of Cell Biology
- Publisher
- Rockefeller University Press
- Published
- 2001-02-19
- Volume
- 152
- Issue
- 4
- Pages
- 843-850
- ISSN
- 0021-9525 (ISSN-L)
- 1540-8140
- PMC
- PMC2195788
- OpenAlex
- W2146940742
- Cited by
- 221
- References
- 31
- Citations by year
- 2026: 3 · 2025: 7 · 2024: 5 · 2023: 1 · 2022: 8 · 2021: 3 · 2020: 10 · 2019: 6 · 2018: 6 · 2017: 6 · 2016: 5 · 2015: 5 · 2014: 6 · 2013: 7 · 2012: 8
- FWCI
- 9.08
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The Journal of Cell Biology (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-sa)
- PubMed Central (publishedVersion, cc-by-nc-sa)
- PubMed (publishedVersion)
- RECERCAT (Consorci de Serveis Universitaris de Catalunya) (acceptedVersion)
- Dipòsit Digital de la Universitat de Barcelona (Universitat de Barcelona) (submittedVersion, public-domain)
- Funders
- Institut National de la Santé et de la Recherche Médicale
- Ligue Contre le Cancer
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular transport and secretion
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Physiology › Calcium signaling and nucleotide metabolism
- Keywords
- Rab27a, Griscelli syndrome, melanosome transport, melanocytes, vesicle trafficking, albinism, immunodeficiency, myosin V, melanin pigmentation
- MeSH terms
- rab27 GTP-Binding Proteins, Biological Transport, Calmodulin-Binding Proteins, Cell Compartmentation, Fluorescent Antibody Technique, Humans, Immunologic Deficiency Syndromes, Melanocytes, Nerve Tissue Proteins, Syndrome, Microscopy, Immunoelectron, Hypopigmentation, Molecular Motor Proteins, Melanosomes, rab GTP-Binding Proteins, Myosin Type V
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