# Mechanisms Behind Retinal Photoreceptor Cells Outer Segment Biogenesis

> **NIH NIH R01** · WEST VIRGINIA UNIVERSITY · 2021 · $363,750

## Abstract

PROJECT SUMMARY/ABSTRACT
The long-term goal of our study is to decipher the mechanisms controlling the morphogenesis of the
photoreceptor outer segment (OS), a cellular compartment vital for our vision. This proposal will specifically
investigate the role of “Progressive Rod Cone Degeneration” (PRCD), in photoreceptor function and OS
biogenesis. PRCD is exclusively present in photoreceptor OS disc membranes and associates with
rhodopsin. The proposed studies are also clinically relevant as mutations in PRCD cause retinitis
pigmentosa (RP) in humans and dogs. Our recent study showed that PRCD is post-translationally lipid
modified by “palmitoylation” in a sole cysteine (Cys2), which is linked with RP in humans and dogs
(Cys2Tyr). Despite the importance of PRCD in retinal function, the role for PRCD in photoreceptors is not
known and is the main focus of this application. The first aim of this study will investigate the role of PRCD
in photoreceptors using a novel PRCD-KO animal model generated by CRISP-Cas9 genome editing. The
second aim will determine how the common patient mutation (C2Y) in PRCD leads to retinitis pigmentosa
(RP) using multiple transgenic animal models. Our proposed studies are aligned with the Retinal Diseases
Program of the NEI to “Identify the genes involved in both inherited and retinal degenerative diseases
(including RP), determine the pathophysiological mechanisms underlying PRCD mutations, and determine
new potential therapeutic strategies for treatment such as gene transfer, tissue and cell transplantation,
growth factor therapy, and pharmacological intervention.

## Key facts

- **NIH application ID:** 10145699
- **Project number:** 5R01EY028959-04
- **Recipient organization:** WEST VIRGINIA UNIVERSITY
- **Principal Investigator:** Saravanan Kolandaivelu
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $363,750
- **Award type:** 5
- **Project period:** 2018-05-01 → 2023-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10145699

## Citation

> US National Institutes of Health, RePORTER application 10145699, Mechanisms Behind Retinal Photoreceptor Cells Outer Segment Biogenesis (5R01EY028959-04). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10145699. Licensed CC0.

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