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Blood, 15 August 2005, Vol. 106, No. 4, pp. 1253-1258. Prepublished online as a Blood First Edition Paper on April 28, 2005; DOI 10.1182/blood-2005-02-0807. This Article Full Text Full Text (PDF) All Versions of this Article: 2005-02-0807v1 106/4/1253    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 Austin, K. M. Articles by Shimamura, A. Search for Related Content PubMed PubMed Citation Articles by Austin, K. M. Articles by Shimamura, A. Related Collections Hematopoiesis and Stem Cells Cell Cycle Clinical Trials and Observations Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  HEMATOPOIESIS The Shwachman-Diamond SBDS protein localizes to the nucleolus Karyn M. Austin, Rebecca J. Leary, and Akiko Shimamura From the Department of Pediatric Hematology/Oncology, Children's Hospital Boston, Boston, MA; and the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA. Shwachman-Diamond syndrome (SDS) is an autosomal recessively inherited disorder characterized by exocrine pancreatic insufficiency and bone marrow failure. The gene for this syndrome, SBDS, encodes a highly conserved novel protein. We characterized Shwachman-Bodian-Diamond syndrome (SBDS) protein expression and intracellular localization in 7 patients with SDS and healthy controls. As predicted by gene mutation, 4 patients with SDS exhibited no detectable full-length SBDS protein. Patient DF277, who was homozygous for the IVS2 + 2 T>C splice donor mutation, expressed scant levels of SBDS protein. Patient SD101 expressed low levels of SBDS protein harboring an R169C missense mutation. Patient DF269, who carried no detectable gene mutations, expressed wild-type levels of SBDS protein to add further support to the growing body of evidence for additional gene(s) that might contribute to the pathogenesis of the disease phenotype. The SBDS protein was detected in both the nucleus and the cytoplasm of normal control fibroblasts, but was particularly concentrated within the nucleolus. SBDS localization was cell-cycle dependent, with nucleolar localization during G1 and G2 and diffuse nuclear localization during S phase. SBDS nucleolar localization was intact in SD101 and DF269. The intranucleolar localization of SBDS provides further supportive evidence for its postulated role in rRNA processing. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: Shwachman-Diamond in the rough Peter E. Newburger Blood 2005 106: 1140-1141. [Full Text] [PDF] This article has been cited by other articles: K. E. Mortensen, L. N. Conley, J. Hedegaard, T. Kalstad, P. Sorensen, C. Bendixen, and A. Revhaug Regenerative response in the pig liver remnant varies with the degree of resection and rise in portal pressure Am J Physiol Gastrointest Liver Physiol, March 1, 2008; 294(3): G819 - G830. [Abstract] [Full Text] [PDF] A. S. Rawls, A. D. Gregory, J. R. Woloszynek, F. Liu, and D. C. Link Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potential Blood, October 1, 2007; 110(7): 2414 - 2422. [Abstract] [Full Text] [PDF] K. A. Ganapathi, K. M. Austin, C.-S. Lee, A. Dias, M. M. Malsch, R. Reed, and A. Shimamura The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA Blood, September 1, 2007; 110(5): 1458 - 1465. [Abstract] [Full Text] [PDF] R. T. Calado, S. A. Graf, K. L. Wilkerson, S. Kajigaya, P. J. Ancliff, Y. Dror, S. J. Chanock, P. M. Lansdorp, and N. S. Young Mutations in the SBDS gene in acquired aplastic anemia Blood, August 15, 2007; 110(4): 1141 - 1146. [Abstract] [Full Text] [PDF] G. Nishimura, E. Nakashima, Y. Hirose, T. Cole, P. Cox, D. H Cohn, D. L Rimoin, R. S Lachman, Y. Miyamoto, B. Kerr, et al. The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type J. Med. Genet., April 1, 2007; 44(4): e73 - e73. [Abstract] [Full Text] [PDF] B. P. Alter Diagnosis, Genetics, and Management of Inherited Bone Marrow Failure Syndromes Hematology, January 1, 2007; 2007(1): 29 - 39. [Abstract] [Full Text] [PDF] H. Kawashima, M. Ushio, K. Aritaki, Y. Kashiwagi, C. Watanabe, S. Nishimata, K. Takekuma, A. Hoshika, H. Taneichi, and H. Kanegane Discordant Endocrinopathy in a Sibling with Shwachman-Diamond Syndrome J Trop Pediatr, December 1, 2006; 52(6): 445 - 447. [Full Text] [PDF] S. Zhang, M. Shi, C.-c. Hui, and J. M. Rommens Loss of the Mouse Ortholog of the Shwachman-Diamond Syndrome Gene (Sbds) Results in Early Embryonic Lethality. Mol. Cell. Biol., September 1, 2006; 26(17): 6656 - 6663. [Abstract] [Full Text] [PDF] J. M. Liu and S. R. Ellis Ribosomes and marrow failure: coincidental association or molecular paradigm? Blood, June 15, 2006; 107(12): 4583 - 4588. [Abstract] [Full Text] [PDF] D. Wessels, T. Srikantha, S. Yi, S. Kuhl, L. Aravind, and D. R. Soll The Shwachman-Bodian-Diamond syndrome gene encodes an RNA-binding protein that localizes to the pseudopod of Dictyostelium amoebae during chemotaxis J. Cell Sci., January 15, 2006; 119(2): 370 - 379. [Abstract] [Full Text] [PDF] A. 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