# Molecular mechanisms of transcriptional regulation of phototransduction genes in mammalian rod photoreceptors

> **NIH NIH R00** · STANFORD UNIVERSITY · 2024 · $249,000

## Abstract

Transcriptional elongation and mRNA processing occur simultaneously and are highly coupled to increase the
efficiency and accuracy of mRNA maturation. Splicing is a step of mRNA processing where intronic regions are
removed by spliceosome complexes that bind pre-mRNA. Most human genes with multiple exons are
alternatively spliced generating numerous proteins with diverse functions derived from a single gene. Defects in
RNA polymerase that alter the transcription elongation rate cause pervasive changes in alternative splicing.
Mutations in transcriptional processing cause a variety of human diseases including retina degeneration, which
is characterized by photoreceptor cell loss and visual dysfunction that can lead to blindness. Notably, the human
retina harbors an astonishing splicing diversity and several retina-specific mRNA isoforms and ubiquitously
expressed splicing factors are associated with retinal disease. Retinal photoreceptors, cones and rod cells,
constitute over 70% of cells in the retina and initiate the transmission of visual stimuli to the brain by detecting
light photons through a molecular pathway known as phototransduction. Many retinal mutations occur in
phototransduction genes including rhodopsin, the only photopigment and highest expressed gene in rods. To
date, the mechanisms that regulate the precise temporal and quantitative expression of rhodopsin and other
phototransduction genes are poorly understood. My preliminary data suggest that the rod-specific transcription
factor NRL physically interacts with splicing proteins. I hypothesize that qualitatively and quantitatively precise
expression of phototransduction genes are controlled stringently by molecular interactions between the splicing
and transcriptional machineries. In this proposal, genetic, biochemical and genomic approaches in combination
with high throughput technologies, will be used to identify protein interactions between the transcriptional and
splicing machineries. In addition, the role of these interactions will be studied in vitro and in vivo. Furthermore,
genomic regions of phototransduction genes associated with RNA polymerase regulation and splicing factor
binding will be identified. This grant will expose me to new technologies and computational analysis that will
allow me to comprehensively study mechanisms of gene regulation and retinal homeostasis. Overall, this funding
opportunity will help me become a well-rounded scientist and achieve research independence in the area of
molecular genetics and vision research.

## Key facts

- **NIH application ID:** 11084580
- **Project number:** 4R00EY030918-02
- **Recipient organization:** STANFORD UNIVERSITY
- **Principal Investigator:** Elsa Ximena Corso-Diaz
- **Activity code:** R00 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $249,000
- **Award type:** 4N
- **Project period:** 2024-08-01 → 2027-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/11084580

## Citation

> US National Institutes of Health, RePORTER application 11084580, Molecular mechanisms of transcriptional regulation of phototransduction genes in mammalian rod photoreceptors (4R00EY030918-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/11084580. Licensed CC0.

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