PUBLICATION

Abnormal nuclear pore formation triggers apoptosis in the intestinal epithelium of elys-deficient zebrafish

Authors
de Jong-Curtain, T.A., Parslow, A.C., Trotter, A.J., Hall, N.E., Verkade, H., Tabone, T., Christie, E.L., Crowhurst, M.O., Layton, J.E., Shepherd, I.T., Nixon, S.J., Parton, R.G., Zon, L.I., Stainier, D.Y., Lieschke, G.J., and Heath, J.K.
ID
ZDB-PUB-090406-2
Date
2009
Source
Gastroenterology   136(3): 902-911 (Journal)
Registered Authors
Christie, Elizabeth, Crowhurst, Meredith, de Jong-Curtain, Tanya A., Heath, Joan K., Layton, Judy E., Lieschke, Graham J., Parslow, Adam, Shepherd, Iain T., Stainier, Didier, Trotter, Andrew, Verkade, Heather, Zon, Leonard I.
Keywords
none
MeSH Terms
  • Animals
  • Apoptosis/physiology*
  • Cell Differentiation/physiology
  • Cell Lineage/physiology
  • Enteric Nervous System/abnormalities
  • Enteric Nervous System/pathology
  • Enteric Nervous System/physiology
  • Eye Abnormalities/pathology
  • Eye Abnormalities/physiopathology
  • Gene Expression Regulation, Developmental
  • Intestinal Mucosa/abnormalities*
  • Intestinal Mucosa/pathology
  • Intestinal Mucosa/physiology*
  • Intestines/abnormalities
  • Intestines/pathology
  • Intestines/physiology
  • Liver/abnormalities
  • Liver/pathology
  • Liver/physiology
  • Microscopy, Electron
  • Nuclear Pore/pathology*
  • Nuclear Pore/physiology
  • Nuclear Pore/ultrastructure
  • Nuclear Pore Complex Proteins/genetics*
  • Nuclear Pore Complex Proteins/metabolism
  • Pancreas/abnormalities
  • Pancreas/pathology
  • Pancreas/physiology
  • Phenotype
  • Zebrafish
  • Zebrafish Proteins/genetics*
  • Zebrafish Proteins/metabolism
PubMed
19073184 Full text @ Gastroenterology
Abstract
BACKGROUND & AIMS: Zebrafish mutants generated by ethylnitrosourea-mutagenesis provide a powerful tool for dissecting the genetic regulation of developmental processes, including organogenesis. One zebrafish mutant, "flotte lotte" (flo), displays striking defects in intestinal, liver, pancreas, and eye formation at 78 hours postfertilization (hpf). In this study, we sought to identify the underlying mutated gene in flo and link the genetic lesion to its phenotype. METHODS: Positional cloning was employed to map the flo mutation. Subcellular characterization of flo embryos was achieved using histology, immunocytochemistry, bromodeoxyuridine incorporation analysis, and confocal and electron microscopy. RESULTS: The molecular lesion in flo is a nonsense mutation in the elys (embryonic large molecule derived from yolk sac) gene, which encodes a severely truncated protein lacking the Elys C-terminal AT-hook DNA binding domain. Recently, the human ELYS protein has been shown to play a critical, and hitherto unsuspected, role in nuclear pore assembly. Although elys messenger RNA (mRNA) is expressed broadly during early zebrafish development, widespread early defects in flo are circumvented by the persistence of maternally expressed elys mRNA until 24 hpf. From 72 hpf, elys mRNA expression is restricted to proliferating tissues, including the intestinal epithelium, pancreas, liver, and eye. Cells in these tissues display disrupted nuclear pore formation; ultimately, intestinal epithelial cells undergo apoptosis. CONCLUSIONS: Our results demonstrate that Elys regulates digestive organ formation.
Genes / Markers
Figures
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Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping