Development Genes and Evolution

, Volume 215, Issue 4, pp 198–206

Characterisation of Fmrp in zebrafish: evolutionary dynamics of the fmr1 gene

  • Sandra van ‘t Padje
  • Bart Engels
  • Lau Blonden
  • Lies-Anne Severijnen
  • Frans Verheijen
  • Ben A. Oostra
  • Rob Willemsen
Original Article

DOI: 10.1007/s00427-005-0466-0

Cite this article as:
van ‘t Padje, S., Engels, B., Blonden, L. et al. Dev Genes Evol (2005) 215: 198. doi:10.1007/s00427-005-0466-0

Abstract

Fragile X syndrome is the most common inherited form of mental retardation. It is caused by the lack of the Fragile X Mental Retardation Protein (FMRP), which is encoded by the FMR1 gene. Although Fmr1 knockout mice display some characteristics also found in fragile X patients, it is a complex animal model to study brain abnormalities, especially during early embryonic development. Interestingly, the ortholog of the FMR1 gene has been identified not only in mouse, but also in zebrafish (Danio rerio). In this study, an amino acid sequence comparison of FMRP orthologs was performed to determine the similar regions of FMRP between several species, including human, mouse, frog, fruitfly and zebrafish. Further characterisation of Fmrp has been performed in both adults and embryos of zebrafish using immunohistochemistry and western blotting with specific antibodies raised against zebrafish Fmrp. We have demonstrated a strong Fmrp expression in neurons of the brain and only a very weak expression in the testis. In brain tissue, a different distribution of the isoforms of Fmrp, compared to human and mouse brain tissue, was shown using western blot analysis. Due to the high similarity between zebrafish Fmrp and human FMRP and their similar expression pattern, the zebrafish has great potential as a complementary animal model to study the pathogenesis of the fragile X syndrome, especially during embryonic development.

Keywords

Zebrafishfmr1FmrpDanio rerioFragile X syndrome

Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Sandra van ‘t Padje
    • 1
  • Bart Engels
    • 1
  • Lau Blonden
    • 1
  • Lies-Anne Severijnen
    • 1
  • Frans Verheijen
    • 1
  • Ben A. Oostra
    • 1
  • Rob Willemsen
    • 1
  1. 1.Department of Clinical GeneticsErasmus MCRotterdamThe Netherlands