Open Close
Reference
Citation
Rahman, M., Haberman, A., Tracy, C., Ray, S., Krämer, H. (2012). Drosophila mauve Mutants Reveal a Role of LYST Homologs Late in the Maturation of Phagosomes and Autophagosomes.  Traffic 13(12): 1680--1692.
FlyBase ID
FBrf0220730
Publication Type
Research paper
Abstract

Chediak-Higashi syndrome (CHS) is a lethal disease caused by mutations that inactivate the lysosomal trafficking regulator protein (LYST). Patients suffer from diverse symptoms including oculocutaneous albinism, recurrent infections, neutropenia and progressive neurodegeneration. These defects have been traced back to over-sized lysosomes and lysosome-related organelles (LROs) in different cell types. Here, we explore mutants in the Drosophila mauve gene as a new model system for CHS. The mauve gene (CG42863) encodes a large BEACH domain protein of 3535 amino acids similar to LYST. This reflects a functional homology between these proteins as mauve mutants also display enlarged LROs, such as pigment granules. This Drosophila model also replicates the enhanced susceptibility to infections and we show a defect in the cellular immune response. Early stages of phagocytosis proceed normally in mauve mutant hemocytes but, unlike in wild type, late phagosomes fuse and generate large vacuoles containing many bacteria. Autophagy is similarly affected in mauve fat bodies as starvation-induced autophagosomes grow beyond their normal size. Together these data suggest a model in which Mauve functions to restrict homotypic fusion of different pre-lysosomal organelles and LROs.

PubMed ID
PubMed Central ID
PMC3528838 (PMC) (EuropePMC)
Associated Information
Comments
Associated Files
Other Information
Secondary IDs
    Language of Publication
    English
    Additional Languages of Abstract
    Parent Publication
    Publication Type
    Journal
    Abbreviation
    Traffic
    Title
    Traffic
    Publication Year
    2000-
    ISBN/ISSN
    1398-9219
    Data From Reference
    Aberrations (2)
    Alleles (6)
    Genes (8)
    Human Disease Models (1)
    Natural transposons (1)
    Transgenic Constructs (4)