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Titolo:
Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism
Autore:
Gwynn, B; Ciciotte, SL; Hunter, SJ; Washburn, LL; Smith, RS; Andersen, SG; Swank, RT; DellAngelica, EC; Bonifacino, JS; Eicher, EM; Peters, LL;
Indirizzi:
Jackson Lab, Bar Harbor, ME 04609 USA Jackson Lab Bar Harbor ME USA 04609Jackson Lab, Bar Harbor, ME 04609 USA Univ Maine, Dept Biol Sci, Orono, ME USA Univ Maine Orono ME USAUniv Maine, Dept Biol Sci, Orono, ME USA Roswell Pk Canc Inst, Dept Mol & Cellular Biol, Buffalo, NY 14263 USA Roswell Pk Canc Inst Buffalo NY USA 14263 lar Biol, Buffalo, NY 14263 USA NICHHD, Cell Biol & Metab Branch, NIH, Bethesda, MD 20892 USA NICHHD Bethesda MD USA 20892 & Metab Branch, NIH, Bethesda, MD 20892 USA
Titolo Testata:
BLOOD
fascicolo: 13, volume: 96, anno: 2000,
pagine: 4227 - 4235
SICI:
0006-4971(200012)96:13<4227:DITC(G>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHEDIAK-HIGASHI-SYNDROME; STORAGE POOL DEFICIENCY; BETA-GLUCURONIDASE DEFICIENCY; AP-3 ADAPTER COMPLEX; PALE EAR EP; HPS GENE; MUTATION; PROTEINS; MODELS; TRAFFICKING;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
50
Recensione:
Indirizzi per estratti:
Indirizzo: Peters, LL Jackson Lab, 600 Main St, Bar Harbor, ME 04609 USA Jackson Lab 600 Main St Bar Harbor ME USA 04609 r, ME 04609 USA
Citazione:
B. Gwynn et al., "Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism", BLOOD, 96(13), 2000, pp. 4227-4235

Abstract

Defects in a triad of organelles (melanosomes, platelet granules, and lysosomes) result in albinism, prolonged bleeding, and lysosome abnormalities in Hermansky-Pudlak syndrome (HPS). Defects in HPS1, a protein of unknown function, and in components of the AP-3 complex cause some, but not all, cases of HPS in humans. There have been 15 inherited models of HPS described inthe mouse, underscoring its marked genetic heterogeneity. Here we characterize a new spontaneous mutation in the mouse, cappuccino (cno), that maps to mouse chromosome 5 in a region conserved with human 4p15-p16. Melanosomesof cno/cno mice are immature and dramatically decreased in number in the eye and skin, resulting in severe oculocutaneous albinism. Platelet dense body contents (adenosine triphosphate, serotonin) are markedly deficient, leading to defective aggregation and prolonged bleeding. Lysosomal enzyme concentrations are significantly elevated in the kidney and liver. Genetic, immunofluorescence microscopy, and lysosomal protein trafficking studies indicate that the AP-3 complex is intact in cno/cno mice, It was concluded that the cappuccino gene encodes a product involved in an AP-3-independent mechanism critical to the biogenesis of lysosome-related organelles. (C) 2000 byThe American Society of Hematology.

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Documento generato il 22/09/20 alle ore 14:01:55