2003
DOI: 10.1038/ng1087
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Abstract: Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous disease involving abnormalities of melanosomes, platelet dense granules and lysosomes. Here we have used positional candidate and transgenic rescue approaches to identify the genes mutated in ruby-eye 2 and ruby-eye mice (ru2 and ru, respectively), two 'mimic' mouse models of HPS. We also show that these genes are orthologs of the genes mutated in individuals with HPS types 5 and 6, respectively, and that their protein products directly interact. B… Show more

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Cited by 180 publications
(215 citation statements)
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“…Mice have more than 16 different genes with HPS-like phenotypes (40), although many of the gene functions are unknown. At least six mouse models have the orthologous mutations to the human genes (41)(42)(43)(44)(45)(46). Interestingly, murine models of HPS-1 (Pale ear) and HPS-2 (Pearl) show activation of alveolar macrophages in the lung, but not in the blood or peritoneum (47,48).…”
Section: Murine Modelsmentioning
confidence: 99%
“…Mice have more than 16 different genes with HPS-like phenotypes (40), although many of the gene functions are unknown. At least six mouse models have the orthologous mutations to the human genes (41)(42)(43)(44)(45)(46). Interestingly, murine models of HPS-1 (Pale ear) and HPS-2 (Pearl) show activation of alveolar macrophages in the lung, but not in the blood or peritoneum (47,48).…”
Section: Murine Modelsmentioning
confidence: 99%
“…We fused cDNA sequences containing the entire protein coding regions of mouse wild-type and sdy/sdy dysbindin (from kidney of sdy mice), β-dystrobrevin, pallidin and muted in-frame to the DNA binding (pGBKT7) and activation (pGADT7) domains of the Gal4 transcription factor and verified resulting fusion constructs by sequencing. We cotransformed fusion constructs into Saccharomyces cerevisiae strain AH109 grown at high and low stringency as described 17 , incubated plates at 30 °C for 5 d and monitored growth and development of blue color.…”
Section: Yeast Two-hybrid Interactionsmentioning
confidence: 99%
“…13 17 ) result from mutations in genes that encode both known vesicle trafficking proteins and novel proteins. In the mouse, seven additional genes 4,5,9,18-21 associated with HPS have been identified.…”
mentioning
confidence: 99%
“…The clinical features of HPS4 disease resemble those of HPS1, and include granulomatous colitis and pulmonary fibrosis (2, 16). Pulmonary fibrosis is not seen in HPS3 (17), HPS5 (18) and HPS6 (19). Bleeding diathesis is a common feature of HPS1 (1), HPS2 (14) and HPS6 (19).…”
Section: Discussionmentioning
confidence: 94%
“…Pulmonary fibrosis is not seen in HPS3 (17), HPS5 (18) and HPS6 (19). Bleeding diathesis is a common feature of HPS1 (1), HPS2 (14) and HPS6 (19). In HPS4 and HPS5, platelet count is almost normal, however, platelet aggregation is reduced, and bleeding time is moderately prolonged (18,19).…”
Section: Discussionmentioning
confidence: 96%