Genome-wide screening of miRNA’s involved in birth defects in eye

Genome-wide screening of miRNA’s involved in birth defects in eye

Authors

    Presenter(s)

    Mani Manivannan Subramanian

    Comments

    Presentation: 9:00-9:20, Kennedy Union 312

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    Description

    Aniridia, a birth defect in eye, is caused by mutation(s) in paired-box gene 6 (PAX-6), and is manifested as visual impairment. A highly conserved PAX-6, encodes a DNA-binding transcription factor, whose loss-of-function exhibits loss-of-entire-eye or part-of-eye. Surprisingly, the understanding of the molecular genetic basis of Aniridia is far from complete. Our hypothesis is that the retinal loss observed in aniridia can be due to post transcriptional regulation such dysregulation of miRNAs that plays a pivotal role in regulating genes post transcriptionally. miRNAs are the short hairpin like structure with 20-25bp which modulates the gene expressions post-transcriptionally by binding to 3’UTR of mRNAs. miRNA serves a vital role in the retina throughout development and in eye diseases. We employed Drosophila eye as a model system for genome-wide screening of miRNAs involved in eye defects. We have identified a miRNA which exhibits strong eye enlargement phenotype. Using bioinformatic approaches, followed by validation using molecular and genetic studies, we identified PAX-6 homolog eyeless (ey) as target of this mi-RNA. Here, we provide a mechanism of how this newly identified miRNA modulates eye phenotype, and results from these studies will be presented.

    Publication Date

    4-17-2024

    Project Designation

    Independent Research

    Primary Advisor

    Madhuri Kango-Singh, Amit Singh

    Primary Advisor's Department

    Biology

    Keywords

    Stander Symposium, College of Arts and Sciences

    Genome-wide screening of miRNA’s involved in birth defects in eye

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