ArticleMolecular genetics and metabolism2008
A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome.
Article in Molecular genetics and metabolism, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 35 citations in OpenAlex.
- Griscelli Syndrome in Two Siblings with Silvery Hair: A Case Report.JNMA; journal of the Nepal Medical Association · 2025Article
- Article
- Glucocorticoids regulate small extracellular vesicle (sEV) release via activation of nSMase2.bioRxiv : the preprint server for biology · 2025Article
- Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.Journal of clinical immunology · 2024Article
- Silver hair in a neonate: a tale of 2 fatal cases.Oxford medical case reports · 2024Article
- Review
- Genetic background of primary and familial HLH in Qatar: registry data and population study.Frontiers in pediatrics · 2024Article
- Inhibition of Melanosome Transport by Inducing Exon Skipping in Melanophilin.Biomolecules & therapeutics · 2023Article
- Synaptotagmin-Like Protein 2a Regulates Angiogenic Lumen Formation via Weibel-Palade Body Apical Secretion of Angiopoietin-2.Arteriosclerosis, thrombosis, and vascular biology · 2021Article
- Platelet δ-Storage Pool Disease: An Update.Journal of clinical medicine · 2020Review
- Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene.World journal of pediatrics : WJP · 2017Article
- Overexpression of Rab27B is correlated with distant metastasis and poor prognosis in ovarian cancer.Oncology letters · 2016Article
- Inhibitory effect of 2-methyl-naphtho[1,2,3-de]quinolin-8-one on melanosome transport and skin pigmentation.Scientific reports · 2016Article
- An Indian boy with griscelli syndrome type 2: case report and review of literature.Indian journal of dermatology · 2014Article
- Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24.PLoS genetics · 2014Article
- Article
- Overexpression of the secretory small GTPase Rab27B in human breast cancer correlates closely with lymph node metastasis and predicts poor prognosis.Journal of translational medicine · 2012Article
- Cellular and clinical report of new Griscelli syndrome type III cases.Pigment cell & melanoma research · 2012Article
- Article
- Effect of the secretory small GTPase Rab27B on breast cancer growth, invasion, and metastasis.Journal of the National Cancer Institute · 2010Article
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
The autosomal recessive Griscelli syndrome type II (GSII) is caused by mutations in the RAB27A gene. Typical clinical features include immunological impairment, silver-gray scalp hair, eyelashes and eyebrows and hypomelanosis of the skin. Rabs help determine the specificity of membrane trafficking steps within cells. In melanocytes, the GTP-bound form of Rab27A associates with the membranes of mature fully-pigmented melanosomes through its geranylgeranyl group. Once attached, Rab27A recruits the downstream effector Melanophilin (Mlph) and the actin-dependent motor protein Myosin Va (MyoVa). The molecular Rab27A/Mlph/MyoVA tripartite complex, which links melanosomes to the peripheral actin network, is required to achieve melanosome transfer to surrounding keratinocytes in the epidermis. Here we report a novel homozygous missense mutation c.127G>A, p.G43S in exon 2 of the RAB27A gene of an Afghani GSII patient. Laser scanning confocal microscopy showed that the G43S mutation, which is located in the highly conserved switch I region of Rab27A, induces perinuclear localization of melanosomes in normal melanocytes, and fails to restore melanosomes to the actin-rich periphery in GSII melanocytes. Co-immunoprecipitation studies showed that Rab27A(G43S) fails to interact with its effector Melanophilin, indicating that the switch I region functions in the recruitment of Rab effector proteins.
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Registered trials
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