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The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules.

Blood | Feb 15, 2007

Platelet dense granules are lysosome-related organelles which contain high concentrations of several biologically important low-molecular-weight molecules. These include calcium, serotonin, adenine nucleotides, pyrophosphate, and polyphosphate, which are necessary for normal blood hemostasis. The synthesis of dense granules and other lysosome-related organelles is defective in inherited diseases such as Hermansky-Pudlak syndrome (HPS) and Chediak-Higashi syndrome (CHS). HPS and CHS mutations in 8 human and at least 16 murine genes have been identified. Previous studies produced contradictory findings for the function of the murine ashen (Rab27a) gene in platelet-dense granules. We have used a positional cloning approach with one line of ashen mutants to establish that a new mutation in a second gene, Slc35d3, on mouse chromosome 10 is the basis of this discrepancy. The platelet-dense granule defect is rescued in BAC transgenic mice containing the normal Slc35d3 gene. Thus, Slc35d3, an orphan member of a nucleotide sugar transporter family, specifically regulates the contents of platelet-dense granules. Unlike HPS or CHS genes, it has no apparent effect on other lysosome-related organelles such as melanosomes or lysosomes. The ash-Roswell mouse mutant is an appropriate model for human congenital-isolated delta-storage pool deficiency.

Pubmed ID: 17062724 RIS Download

Mesh terms: Animals | Blood Platelets | Chromosome Mapping | Chromosomes, Mammalian | Cytoplasmic Granules | Lysosomes | Mice | Mice, Transgenic | Monosaccharide Transport Proteins | Mutation | rab GTP-Binding Proteins

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Associated grants

  • Agency: NCI NIH HHS, Id: P30 CA016056
  • Agency: NHLBI NIH HHS, Id: R01 HL031698
  • Agency: NHLBI NIH HHS, Id: HL-31698
  • Agency: NEI NIH HHS, Id: EY-12104
  • Agency: NHLBI NIH HHS, Id: R01 HL051480
  • Agency: NIAMS NIH HHS, Id: AR39892
  • Agency: NEI NIH HHS, Id: R01 EY012104
  • Agency: NEI NIH HHS, Id: R01 EY015626
  • Agency: NEI NIH HHS, Id: EY015626
  • Agency: NIAMS NIH HHS, Id: R01 AR039892
  • Agency: NHLBI NIH HHS, Id: HL-51480

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