A zebrafish model for the Shwachman-Diamond syndrome (SDS).

Journal Article

The Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic insufficiency, neutrophil defect, and skeletal abnormalities. The molecular basis for this syndrome was recently identified as a defect in a novel nucleolar protein termed the Shwachman-Bodian-Diamond syndrome (SBDS) protein. Beyond human pathologic descriptions, there are little data addressing the role of SBDS during pancreas and granulocytes development. We hypothesize that sbds gene function is essential for pancreas and myeloid development in the zebrafish. By homology searching, we identified the zebrafish sbds ortholog and then analyzed its expression by reverse transcriptase-polymerase chain reaction and in situ hybridization. We found that the sbds gene is expressed dynamically during development. To study the function of sbds during development, we induced loss of gene function by morpholino-mediated gene knockdown. The knockdown induced a morphogenetic defect in the pancreas, altering the spatial relationship between exocrine and endocrine components. We also noted granulopoiesis defect using myeloperoxidase as a marker. We conclude that sbds function is essential for normal pancreas and myeloid development in zebrafish. These data provide novel insight into the role of the sbds gene and support using zebrafish as a model system to study sbds gene function and for evaluation of novel therapies.

Full Text

Duke Authors

Cited Authors

  • Venkatasubramani, N; Mayer, AN

Published Date

  • April 2008

Published In

Volume / Issue

  • 63 / 4

Start / End Page

  • 348 - 352

PubMed ID

  • 18356737

International Standard Serial Number (ISSN)

  • 0031-3998

Digital Object Identifier (DOI)

  • 10.1203/PDR.0b013e3181659736

Language

  • eng

Conference Location

  • United States