|
| Status |
Public on Jan 15, 2020 |
| Title |
Investigating cone photoreceptor development using patient-derived NRLnull retinal organoids |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
|
| Summary |
Photoreceptor loss is a leading cause of blindness, but mechanisms underlying photoreceptor degeneration are not well understood. Treatment strategies would benefit from an improved understanding of gene-expression patterns directing photoreceptor development, as many genes are implicated in both development and degeneration. Neural retina leucine zipper (NRL) is critical for rod photoreceptor genesis and degeneration, with NRL mutations known to cause enhanced S-cone syndrome and retinitis pigmentosa. While murine Nrl loss has been characterized, studies of human NRL can identify important insights for human retinal disease. Here we utilized human organoid models of retinal development to molecularly define developmental alterations in a human model of NRL loss. Consistent with the function of NRL in rod fate specification, human retinal organoids lacking NRL develop S-opsin dominant photoreceptor populations. We report generation of two distinct S-opsin expressing populations in NRL null retinal organoids and identify MEF2C as a candidate regulator of cone development.
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| |
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| Overall design |
single cell RNA sequencing via Dropseq of retinal organoids at d100 (4 wild type and 4 NRL null) and at d170 (3 wild type and 6 NRL null)
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| |
|
| Contributor(s) |
Zack DJ, Gamm DM |
| Citation(s) |
32081919 |
| |
| Submission date |
Jan 14, 2020 |
| Last update date |
Oct 11, 2024 |
| Contact name |
Alyssa Kallman |
| E-mail(s) |
[email protected]
|
| Organization name |
Johns Hopkins University, School of Medicine
|
| Lab |
Donald Zack
|
| Street address |
400 N Broadway
|
| City |
Baltimore |
| State/province |
Maryland |
| ZIP/Postal code |
21231 |
| Country |
USA |
| |
|
| Platforms (1) |
| GPL16791 |
Illumina HiSeq 2500 (Homo sapiens) |
|
| Samples (17)
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|
| Relations |
| BioProject |
PRJNA601209 |
| SRA |
SRP241942 |
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