# Cep290 function in photoreceptor structure and disease.

> **NIH NIH F32** · BAYLOR COLLEGE OF MEDICINE · 2022 · $61,950

## Abstract

ABSTRACT
Photoreceptor neurons are specialized cells that possess elaborated outer segments (OS) containing
disc like structures and are anchored by connecting cilia (CC). The delineation of the OS proteins
involved in the conversion of light to electrical signal has been extensive, nevertheless OS elaboration,
maintenance, and the structural complexes sustaining these processes have yet to be elucidated.
Therefore, my short-term goal is to define the role of CC-resident protein complexes and Y-link
structures within the CC, specifically in regards to the growth and organization of the outer segment.
This goal is of clinical significance as defects in OS organization and in proteins associated with the Y-
link structures lead to blindness. My ultimate goal is to characterize the CC structure and interactions
of proteins within it, and to understand the mechanistic connections between changes in cilia structure
and functional defects in retinal ciliopathies. The central hypothesis of this application is that
defects in CEP290 interfere with the structure and function of the Y-links in the CC, thereby
disrupting ciliary function and resulting in aberrant OS morphogenesis. My hypothesis has been
formed based on preliminary data from patients with mutations in Cep290, as well as from the analysis
of Cep290 mutant mouse lines. The specific aims of this proposal are to 1) Localize CEP290 in primary
cilia of cultured cells and the CC of rod cells with sufficient resolution to determine its structural
relationship to the Y-links and the ciliary membrane, and 2) Test the hypothesis that CEP290
functions as a component of a ciliary trafficking filter. Using multiple animal models with mutations
in Cep290 or lacking Cep290, my goal is to identify the exact location of CEP290 within photoreceptor
CC and to determine CEP290’s role in the filtering of proteins into the cilium. This research will impact
the health field by contributing to the mechanistic knowledge base for Leber Congenital Amaurosis and
other cilia-related retinal degeneration diseases, and it will provide an opportunity to create novel
treatments for these diseases.

## Key facts

- **NIH application ID:** 10349489
- **Project number:** 5F32EY031574-02
- **Recipient organization:** BAYLOR COLLEGE OF MEDICINE
- **Principal Investigator:** Abigail R Moye
- **Activity code:** F32 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $61,950
- **Award type:** 5
- **Project period:** 2021-03-01 → 2022-12-26

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10349489

## Citation

> US National Institutes of Health, RePORTER application 10349489, Cep290 function in photoreceptor structure and disease. (5F32EY031574-02). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10349489. Licensed CC0.

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