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Blood, Vol. 94 No. 1 (July 1), 1999:
pp. 146-155
Abnormal Expression and Subcellular Distribution of Subunit
Proteins of the AP-3 Adaptor Complex Lead to Platelet Storage Pool
Deficiency in the Pearl Mouse
Lijie Zhen,
Shelley Jiang,
Lijun Feng,
Nicholas A. Bright,
Andrew
A. Peden,
Albert B. Seymour,
Edward K. Novak,
Rosemary Elliott,
Michael B. Gorin,
Margaret S. Robinson, and
Richard T. Swank
From the Department of Molecular and Cell Biology, Roswell Park
Cancer Institute, Buffalo, NY; University of Cambridge, Cambridge
Institute for Medical Research, Cambridge, UK; Pfizer Central Research,
the Department of Genomics, Targets and Cancer, Groton, CT; and the
Departments of Human Genetics and Ophthalmology, University of
Pittsburgh, Pittsburgh, PA.
The pearl mouse is a model for Hermansky Pudlak Syndrome (HPS),
whose symptoms include hypopigmentation, lysosomal abnormalities, and
prolonged bleeding due to platelet storage pool deficiency (SPD). The
gene for pearl has recently been identified as the beta3A subunit of
the AP-3 adaptor complex. The objective of these experiments was to
determine if the expression and subcellular distribution of the AP-3
complex were altered in pearl platelets and other tissues. The beta3A
subunit was undetectable in all pearl cells and tissues. Also,
expression of other subunit proteins of the AP-3 complex was decreased.
The subcellular distribution of the remaining AP-3 subunits in
platelets, macrophages, and a melanocyte-derived cell line of pearl
mice was changed from the normal punctate, probably endosomal, pattern
to a diffuse cytoplasmic pattern. Ultrastructural abnormalities in
mutant lysosomes were likewise apparent in mutant kidney and a cultured
mutant cell line. Genetically distinct mouse HPS models had normal
expression of AP-3 subunits. These and related experiments strongly
suggest that the AP-3 complex regulates the biogenesis/function of
organelles of platelets and other cells and that abrogation of
expression of the AP-3 complex leads to platelet SPD.
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