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Blood, 15 February 2007, Vol. 109, No. 4, pp. 1533-1540. Prepublished online as a Blood First Edition Paper on October 24, 2006; DOI 10.1182/blood-2006-08-040196. This Article Full Text Full Text (PDF) All Versions of this Article: blood-2006-08-040196v1 109/4/1533    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Chintala, S. Articles by Swank, R. T. Search for Related Content PubMed PubMed Citation Articles by Chintala, S. Articles by Swank, R. T. Related Collections Hemostasis, Thrombosis, and Vascular Biology Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules Sreenivasulu Chintala1, Jian Tan1, Rashi Gautam1, Michael E. Rusiniak1, Xiaoli Guo2, Wei Li2, William A. Gahl3, Marjan Huizing3, Richard A. Spritz4, Saunie Hutton4, Edward K. Novak1, and Richard T. Swank1 1 Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, NY; 2 Key Laboratory of Molecular and Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China; 3 Section on Human Biochemical Genetics, National Institutes of Health, Bethesda, MD; 4 Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver 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. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: Scientific detectives solve ashen mutant problem Timothy A. Lyerla Blood 2007 109: 1344. [Full Text] [PDF] This article has been cited by other articles: T. Tolmachova, M. Abrink, C. E. Futter, K. S. Authi, and M. C. Seabra Rab27b regulates number and secretion of platelet dense granules PNAS, April 3, 2007; 104(14): 5872 - 5877. [Abstract] [Full Text] [PDF]

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