PMID- 10610180
OWN - NLM
STAT- MEDLINE
DCOM- 19991207
LR  - 20191210
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 23
IP  - 3
DP  - 1999 Nov
TI  - The pallid gene encodes a novel, syntaxin 13-interacting protein involved in
      platelet storage pool deficiency.
PG  - 329-32
AB  - 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.
FAU - Huang, L
AU  - Huang L
AD  - Howard Hughes Medical Institute and Department of Medicine, University of
      California, San Francisco, California 94143-0794, USA.
FAU - Kuo, Y M
AU  - Kuo YM
FAU - Gitschier, J
AU  - Gitschier J
LA  - eng
SI  - GENBANK/AF079530
SI  - GENBANK/AF080470
SI  - GENBANK/AF082571
SI  - GENBANK/AF082572
SI  - GENBANK/AF082573
SI  - GENBANK/AF082574
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (Bloc1s6 protein, mouse)
RN  - 0 (Carrier Proteins)
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 0 (Lectins)
RN  - 0 (Membrane Proteins)
RN  - 0 (PLDN protein, human)
RN  - 0 (Qa-SNARE Proteins)
RN  - 0 (RNA, Messenger)
SB  - IM
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Carrier Proteins/chemistry/genetics/*metabolism
MH  - Cell Line
MH  - Chromosome Mapping
MH  - Chromosomes/genetics
MH  - Cloning, Molecular
MH  - Fluorescent Antibody Technique
MH  - Intracellular Membranes/metabolism
MH  - Intracellular Signaling Peptides and Proteins
MH  - Lectins
MH  - Membrane Fusion
MH  - Membrane Proteins/*metabolism
MH  - Mice
MH  - Mice, Inbred C57BL
MH  - Mice, Mutant Strains
MH  - Molecular Sequence Data
MH  - Mutation
MH  - Open Reading Frames/genetics
MH  - Platelet Storage Pool Deficiency/*genetics/metabolism
MH  - Precipitin Tests
MH  - Protein Binding
MH  - Qa-SNARE Proteins
MH  - RNA, Messenger/analysis/genetics
MH  - Two-Hybrid System Techniques
EDAT- 1999/12/28 09:00
MHDA- 2001/03/23 10:01
CRDT- 1999/12/28 09:00
PHST- 1999/12/28 09:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/12/28 09:00 [entrez]
AID - 10.1038/15507 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Nov;23(3):329-32. doi: 10.1038/15507.