The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency.

Pallid (pa) is 1 of 13 platelet storage pool deficiency (SPD) mouse mutants. pa animals suffer from prolonged bleeding time, pigment dilution, kidney lysosomal enzyme elevation, serum alpha1-antitrypsin activity deficiency and abnormal otolith formation. As with other mouse mutants of this class, characterization of pa mice suggests a defect in ...
organelle biosynthesis. Here we describe the physical mapping, positional cloning, and mutational and functional analysis of the gene that is defective in pa mice. It encodes a ubiquitously expressed, highly charged 172-amino-acid protein (termed pallidin) with no homology to known proteins. We detected a nonsense mutation at codon 69 of this gene in the pallid mutant. In a yeast two-hybrid screen, we discovered that pallidin interacts with syntaxin 13, a t-SNARE protein that mediates vesicle-docking and fusion. We confirmed this interaction by co-immunoprecipitation assay. Immunofluorescence studies corroborate that the cellular distribution of pallidin overlaps that of syntaxin 13. Whereas the mocha and pearl SPD mutants have defects in Ap-3, our findings suggest that pa SPD mutants are defective in a more downstream event of vesicle-trafficking: namely, vesicle-docking and fusion.
Mesh Terms:
Amino Acid Sequence, Animals, Base Sequence, Carrier Proteins, Cell Line, Chromosome Mapping, Chromosomes, Cloning, Molecular, Fluorescent Antibody Technique, Intracellular Membranes, Lectins, Membrane Fusion, Membrane Proteins, Mice, Mice, Inbred C57BL, Mice, Mutant Strains, Molecular Sequence Data, Mutation, Open Reading Frames, Platelet Storage Pool Deficiency, Precipitin Tests, Protein Binding, Qa-SNARE Proteins, RNA, Messenger, Two-Hybrid System Techniques
Nat. Genet.
Date: Nov. 01, 1999
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