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Titolo:
Defective pigment granule biogenesis and aberrant behavior caused by mutations in the Drosophila AP-3 beta adaptin gene ruby
Autore:
Kretzschmar, D; Poeck, B; Roth, H; Ernst, R; Keller, A; Porsch, M; Strauss, R; Pflugfelder, GO;
Indirizzi:
Univ Wurzburg, Biozentrum, Theodor Boveri Inst, Lehrstuhl Genet, D-97074 Wurzburg, Germany Univ Wurzburg Wurzburg Germany D-97074 Genet, D-97074 Wurzburg, Germany Univ Regensburg, Inst Zool, Lehrstuhl Entwicklungsbiol, D-93053 Regensburg, Germany Univ Regensburg Regensburg Germany D-93053 , D-93053 Regensburg, Germany
Titolo Testata:
GENETICS
fascicolo: 1, volume: 155, anno: 2000,
pagine: 213 - 223
SICI:
0016-6731(200005)155:1<213:DPGBAA>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
HERMANSKY-PUDLAK-SYNDROME; PROTEIN COMPLEX; AP-3 ADAPTER; LYSOSOMAL DELIVERY; SYNAPTIC VESICLES; VISUAL-SYSTEM; WILD-TYPE; CLATHRIN; MELANOGASTER; EXPRESSION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Agriculture,Biology & Environmental Sciences
Life Sciences
Citazioni:
77
Recensione:
Indirizzi per estratti:
Indirizzo: Pflugfelder, GO Univ Wurzburg, Biozentrum, Theodor Boveri Inst, Lehrstuhl Genet, D-97074 Wurzburg, Germany Univ Wurzburg Wurzburg Germany D-97074 Wurzburg, Germany
Citazione:
D. Kretzschmar et al., "Defective pigment granule biogenesis and aberrant behavior caused by mutations in the Drosophila AP-3 beta adaptin gene ruby", GENETICS, 155(1), 2000, pp. 213-223

Abstract

Lysosomal protein trafficking is a fundamental process conserved from yeast to humans. This conservation extends to lysosome-like organelles such as mammalian melanosomes and insect eye pigment granules. Recently, eye and coat color mutations in mouse (mocha and pearl) and Drosophila (garnet and carmine) were shown to affect subunits of the heterotetrameric adaptor protein complex AP-3 involved in vesicle trafficking. Here we demonstrate that the Drosophila eye color mutant ruby is defective in the AP-3 beta subunit gene. ruby expression was found in retinal pigment and photoreceptor cells and in the developing central nervous system, entry mutations lead to a decreased number and altered size of pigment granules in various cell types in and adjacent to the retina. Humans with lesions in die related AP-3 beta A gene suffer from Hermansky-Pudlak syndrome, which is caused by defects in a number of lysosome-related organelles. Hermansky-Pudlak patients have a reduced skin pigmentation and suffer from internal bleeding, pulmonary fibrosis, and visual system malfunction. The Drosophila AP-3 beta adaptin also appears to be involved in precesses other than eye pigment granule biogenesis because all ruby allele combinations tested exhibited defective behavior ina visual fixation paradigm.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/09/20 alle ore 06:35:48