Characterization of the Drosophila Ortholog of the Human Usher Syndrome Type 1G Protein Sans in Fly Development
2009

Study of the Drosophila Ortholog of Human Usher Syndrome Protein Sans

publication 10 minutes Evidence: moderate

Author Information

Author(s): Demontis Fabio, Dahmann Christian

Primary Institution: Max Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany

Hypothesis

How mutations in the sans gene result in deafness and blindness is not well understood.

Conclusion

Drosophila Sans is not essential for fly development and microvilli morphogenesis in the follicle epithelium.

Supporting Evidence

  • Drosophila Sans is expressed in various tissues during development.
  • Sans mutants are viable and fertile, indicating it is not essential for development.
  • Sans localizes to early endosomes in follicle cells, suggesting a role in vesicle trafficking.

Takeaway

The study found that the Drosophila version of a gene linked to a human disease is not needed for the fly's growth or for making tiny hair-like structures.

Methodology

The researchers used genetic analysis and RNA in situ hybridization to study the expression and function of the Drosophila sans gene.

Limitations

The study does not explore the potential subtle defects in microvilli morphogenesis that may occur in sans mutants.

Digital Object Identifier (DOI)

10.1371/journal.pone.0004753

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