Journal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 100, Issue 3, Pages 1146-1150Publisher
NATL ACAD SCIENCES
DOI: 10.1073/pnas.0237292100
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- NCI NIH HHS [P30 CA016056, CA16056] Funding Source: Medline
- NEI NIH HHS [R01 EY010199, EY10199, EY12104, R01 EY012104] Funding Source: Medline
- NHLBI NIH HHS [R01 HL051480, HL51480, R01 HL031698, HL31698] Funding Source: Medline
- NIAMS NIH HHS [AR39892, R01 AR039892] Funding Source: Medline
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In the mouse, more than 16 loci are associated with mutant phenotypes that include defective pigmentation, aberrant targeting of lysosomal enzymes, prolonged bleeding, and immunodeficiency,the result of defective biogenesis of cytoplasmic organelles: melanosomes, lysosomes, and various storage granules. Many of these mouse mutants are homologous to the human Hermansky-Pudlak syndrome (HIPS), Chediak-Higashi syndrome, and Griscelli syndrome. We have mapped and positionally cloned one of these mouse loci, buff (bf), which has a mutant phenotype similar to that of human HIPS. Mouse bf results from a mutation in Vps33a and thus is homologous to the yeast vacuolar protein-sorting mutant vps33 and Drosophila carnation (car). This is the first found defect of the class C vacuole/prevacuole-associated target soluble N-ethylmaleimide-sensitive factor attachment protein receptor (t-SNARE) complex in mammals and the first mammalian mutant found that is directly homologous to a vps mutation of yeast. VPS33A thus is a good candidate gene for a previously uncharacterized form of human HIPS.
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