# Function of C8ORF37 in Photoreceptors

> **NIH NIH R01** · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · 2020 · $381,250

## Abstract

Project Summary
Rods and cones are photoreceptors responsible for dim light vision and day light color vision, respectively. The
outer segment (OS) of rods and cones is an enlarged cilium for phototransduction containing many tightly-
aligned membrane discs. During development, the OS proteins are synthesized in the inner segment and
transported to the distal end of the connecting cilium. These OS proteins subsequently contribute to the
morphogenesis of OSs containing well-organized membrane discs. Defects in this process are associated with
various inherited retinal degenerative diseases. The long-term goal of our research is to understand the
mechanism underlying OS disc morphogenesis through investigating genes associated with inherited retinal
degenerations. Retinitis pigmentosa (RP) is the most common inherited retinal degeneration with a prevalence
of 1 in 4,000 people. This disease affects rods and subsequently cones. Cone-rod dystrophy (CRD) is another
form of inherited retinal degenerations with a prevalence of 1 in 40,000 people, affecting either cones or both
cones and rods simultaneously. C8ORF37 was identified as a causative gene for early onset RP and CRD.
This gene encodes a protein that does not belong to any protein families or possess any domains of known
functions. Several mouse lines carrying C8orf37 mutations have been generated by CRISPR/Cas9 technology
in our laboratory. Phenotypic characterization of these mutant mice found disorganization of OS membrane
discs and reduction of several OS membrane proteins during OS morphogenesis. Based on these
observations, the central hypothesis of this study is that C8ORF37 functions in photoreceptor OS disc
morphogenesis by participating in folding, degradation and/or transport of a group of OS membrane proteins in
both rods and cones. To test this hypothesis, two specific aims will be conducted. In specific aim 1, the primary
cause underlying the decrease of OS membrane proteins in C8orf37 knockout mice will be investigated in both
rods and cones. Potential defects in protein folding, transport and/or degradation will be specifically examined.
In specific aim 2, the molecular mechanism underlying C8ORF37 function will be addressed by studying the
revolutionarily conserved functional domain of C8ORF37 and identifying C8ORF37-interacting proteins.
Completion of this study will provide new insights into OS disc morphogenesis in photoreceptors and may
benefit clinical research on RP and CRD caused by C8ORF37 mutations.

## Key facts

- **NIH application ID:** 9873029
- **Project number:** 5R01EY026521-04
- **Recipient organization:** UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH
- **Principal Investigator:** Jun Yang
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $381,250
- **Award type:** 5
- **Project period:** 2017-04-01 → 2022-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9873029

## Citation

> US National Institutes of Health, RePORTER application 9873029, Function of C8ORF37 in Photoreceptors (5R01EY026521-04). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/9873029. Licensed CC0.

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