RGD Reference Report - The role of Rab38 in platelet dense granule defects. - Rat Genome Database

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The role of Rab38 in platelet dense granule defects.

Authors: Ninkovic, I  White, JG  Rangel-Filho, A  Datta, YH 
Citation: Ninkovic I, etal., J Thromb Haemost. 2008 Dec;6(12):2143-51. Epub 2008 Oct 1.
RGD ID: 2324691
Pubmed: PMID:18983523   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1538-7836.2008.03178.x   (Journal Full-text)

BACKGROUND: The fawn-hooded hypertensive (FHH) rat has a mutation in the Rab38 gene that is associated with a platelet dense granule storage pool disease. OBJECTIVE: To better characterize the expression and function of Rab38 in FHH rat and human megakaryocytes and platelets. PATIENTS AND METHODS: Rab38 expression in FHH rat and normal tissues was demonstrated by western blotting. Platelet and megakaryocyte morphology and Rab38 expression were examined by transmission electron microscopy and by immunofluorescence confocal microscopy. Platelet surface glycoprotein and P-selectin expression and total serotonin content were assessed by flow cytometry. RESULTS: Rab38 was not expressed in FHH rat tissues, and FHH rat platelets and megakaryocytes lacked dense granules. FHH rat platelets had normal expression of surface glycoproteins and of surface P-selectin in response to thrombin. The total serotonin content in FHH rat platelets was similar to that in Brown Norway rat platelets. In a megakaryocyte cell line, Rab38 was expressed in a granular perinuclear and cytoplasmic pattern. There was partial colocalization with serotonin, and minimal colocalization with von Willebrand factor and lysosomal proteins. CONCLUSIONS: The lack of Rab38 expression in the FHH rat results in the absence of normal dense granules in the megakaryocytes and platelets, which have otherwise normal structure and function. Rab38 may play a role in the development of dense granules in the megakaryocytes and platelets.

Gene Ontology Annotations    Click to see Annotation Detail View

Biological Process

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Rab38Ratplatelet dense granule organization  IMP  RGD 

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Rab38Ratabnormal platelet dense granule number  IAGP  RGD 
Rab38ruRatabnormal platelet dense granule number  IAGP  RGD 
Objects Annotated

Genes (Rattus norvegicus)
Rab38  (RAB38, member RAS oncogene family)
Rab38ru  (Rab38, member of RAS oncogene family, ruby allele)

Additional Information