# Photoreceptor neuron specific alternative splicing messenger RNA

> **NIH NIH R01** · WEST VIRGINIA UNIVERSITY · 2022 · $487,370

## Abstract

Project Summary
 The project will characterise a new genetic model of retinal degeneration that can potentially shed
light on the mechanisms of age-related vision loss in humans (Aim 1). We will also investigate how two RNA
binding proteins, Musashi 1 and 2 (MSI1, MSI2), regulate synthesis of proteins in the photoreceptor cells. We
have shown that MSI1 and MSI2 are required for the development, function and survival of photoreceptor
cells. However, the exact role of the two proteins in photoreceptor cells and the reasons why they are needed
remain unclear. We propose that the main role of the Musashi proteins in photoreceptors is to promote the
expression of proteins involved in light perception. The processes supported by Musashi include the
phototransduction cascade that converts light into electrical signals and the transmission of these signals to
a chain of neurons leading to the brain. This hypothesis is supported by substantial preliminary data on the
targets and interactions of the Musashi proteins, and the visual function of mice in which the two genes are
disabled.
 In Aim 2 of the project we will use three genes involved in vision that we identified in our preliminary
work as Musashi targets to determine how Musashi controls the amount of protein they produce.
 In Aim 3 of the project we will determine which proteins in the retina are directly regulated by Musashi.
This data will give us a global view of how Musashi controls protein production and which structures and
processes in the photoreceptor cells are shaped by Musashi.
 Taken together the data gathered by the research proposed under the three aims will allow us to paint
a detailed picture of the Musashi protein function that connects interactions between individual molecules to
the function of the eye and its ability to perceive the world around us. We expect that our work will open the
road to new therapeutic approaches for treating blindness that will boost protein production to compensate
for reduction in function caused by genetic mutations.

## Key facts

- **NIH application ID:** 10492486
- **Project number:** 5R01EY025536-06
- **Recipient organization:** WEST VIRGINIA UNIVERSITY
- **Principal Investigator:** Visvanathan Ramamurthy
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $487,370
- **Award type:** 5
- **Project period:** 2015-12-01 → 2024-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10492486

## Citation

> US National Institutes of Health, RePORTER application 10492486, Photoreceptor neuron specific alternative splicing messenger RNA (5R01EY025536-06). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10492486. Licensed CC0.

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