Kretzschmar, Doris and Poeck, Burkhard and Roth, Helmut and Ernst, Roman and Keller, Andreas and Porsch, Matthias and Strauss, Roland and Pflugfelder, Gert O. (2000) Defective pigment granule biogenesis and aberrant behavior caused by mutations in the Drosophila AP-3 beta adaptin gene ruby. GENETICS, 155 (1). pp. 213-223. ISSN 0016-6731, 1943-2631
Full text not available from this repository. (Request a copy)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 in a visual fixation paradigm.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | HERMANSKY-PUDLAK-SYNDROME; PROTEIN COMPLEX; AP-3 ADAPTER; LYSOSOMAL DELIVERY; SYNAPTIC VESICLES; VISUAL-SYSTEM; WILD-TYPE; CLATHRIN; MELANOGASTER; EXPRESSION; |
| Subjects: | 500 Science > 590 Zoological sciences |
| Divisions: | Biology, Preclinical Medicine > Institut für Zoologie > Zoologie/Evolutionsbiologie (Prof. Dr. Jürgen Heinze) |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 10 May 2022 06:46 |
| Last Modified: | 10 May 2022 06:46 |
| URI: | https://pred.uni-regensburg.de/id/eprint/42512 |
Actions (login required)
 |
View Item |
