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Genetics, Vol. 155, 213-223, May 2000, Copyright © 2000

Defective Pigment Granule Biogenesis and Aberrant Behavior Caused by Mutations in the Drosophila AP-3ß Adaptin Gene ruby

Doris Kretzschmarb, Burkhard Poeckb, Helmut Roth, Roman Ernsta, Andreas Kellera, Matthias Porscha, Roland Straussa, and Gert O. Pflugfeldera
a Lehrstuhl für Genetik, Theodor-Boveri-Institut, Biozentrum, Universität Würzburg, D 97074 Würzburg, Germany
b Lehrstuhl für Entwicklungsbiologie, Institut für Zoologie, Universität Regensburg, D 93053 Regensburg, Germany

Corresponding author: Gert O. Pflugfelder, Lehrstuhl für Genetik, Theodor-Boveri-Institut, Biozentrum, Universität Würzburg, Am Hubland, D 97074 Würzburg, Germany., pflugfel{at}biozentrum.uni-wuerzburg.de (E-mail)

Communicating editor: T. SCHÜPBACH

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-3ß subunit gene. ruby expression was found in retinal pigment and photoreceptor cells and in the developing central nervous system. ruby 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 the related AP-3ßA 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-3ß adaptin also appears to be involved in processes other than eye pigment granule biogenesis because all ruby allele combinations tested exhibited defective behavior in a visual fixation paradigm.




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