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Expression and localization of bestrophin during normal mouse development
Benjamin Bakall1, Lihua Y Marmorstein, George Hoppe
1Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.
Investigative Ophthalmology & Visual Science
|July 29, 2003
Summary
Bestrophin mRNA appears early in mouse eye development, but bestrophin protein expression in the retinal pigment epithelium (RPE) begins at postnatal day 10, coinciding with the onset of phototransduction.
Area of Science:
- Ophthalmology
- Molecular Biology
- Developmental Biology
Background:
- Best macular dystrophy is linked to mutations in the VMD2 gene, encoding the protein bestrophin.
- Understanding bestrophin expression is crucial for elucidating its role in retinal function and disease.
Purpose of the Study:
- To determine the postnatal onset of bestrophin mRNA and protein expression in the mouse retinal pigment epithelium (RPE).
Main Methods:
- Generated rabbit anti-mouse bestrophin polyclonal antisera.
- Quantified bestrophin mRNA using quantitative PCR during ocular development.
- Assessed bestrophin protein expression via immunohistochemistry.
- Determined phototransduction onset using electroretinography (ERG).
Main Results:
- Bestrophin mRNA detected by embryonic day 15; highest levels in early postnatal period.
- Bestrophin protein first detected in RPE at postnatal day 10.
- Phototransduction (ERG a-wave) also first observed at postnatal day 10.
Conclusions:
- Mouse bestrophin mRNA expression precedes protein appearance by several days.
- Bestrophin protein onset in RPE coincides with the first detectable ERG a-wave.
- Suggests a temporal role for bestrophin in RPE light responses and indicates late RPE differentiation and translational control.