# Functions of chromatin remodeler Chd7 in retinal cell development

> **NIH NIH R01** · UNIVERSITY OF KENTUCKY · 2024 · $614,672

## Abstract

CHD7 (Chromodomain helicase DNA-binding 7) is an ATP-dependent chromatin
remodeling protein that has critical functions in neurogenesis and neural crest cell
development. Pathogenic variants in CHD7 are the most common cause of CHARGE
syndrome or CHD7 disorder, a complex genetic syndrome characterized by ocular
coloboma, heart abnormalities, choanal atresia, retardation of growth, genitourinary
defects, and hearing loss, as well as other developmental defects. Although some
studies have examined the molecular basis for the early ocular defects (such as
coloboma) resulting from CHD7 pathogenic variants, it is not known whether there is a
continuing requirement for CHD7 in the developing retina once ocular morphogenesis is
complete. We have recently shown that CHD7 is robustly expressed in subsets of newly
differentiated retinal cell types, including rod and cone photoreceptors, as well as in
proliferating retinal progenitor cells. Furthermore, zebrafish and mouse Chd7 mutants
display reductions in cone photoreceptor number and abnormally small photoreceptor
outer segments, suggesting a critical role for CHD7 in photoreceptor differentiation and
outer segment morphogenesis. We hypothesize that the chromatin remodeling function
of CHD7 is necessary for the transcriptional activation of genes promoting retinal cell
type differentiation and genes involved in photoreceptor outer segment morphogenesis.
In this proposal, we will test this hypothesis through a combination of zebrafish and
mouse genetics, transcriptomic and epigenomic analyses, and studies of human retinal
organoids and human retinal imaging. Results from these studies will contribute to our
understanding of the genetic and epigenetic regulation of retinal cell type development
as well as the pathogenesis of visual system defects associated with CHD7 disorder.

## Key facts

- **NIH application ID:** 10915417
- **Project number:** 5R01EY035110-02
- **Recipient organization:** UNIVERSITY OF KENTUCKY
- **Principal Investigator:** Donna M. Martin
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $614,672
- **Award type:** 5
- **Project period:** 2023-09-30 → 2027-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10915417

## Citation

> US National Institutes of Health, RePORTER application 10915417, Functions of chromatin remodeler Chd7 in retinal cell development (5R01EY035110-02). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10915417. Licensed CC0.

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