Random Allelic Expression in Inherited Retinal Disease Genes
| Title: | Random Allelic Expression in Inherited Retinal Disease Genes |
|---|---|
| Authors: | Collin J. Richards, Jose S. Pulido |
| Source: | Current Issues in Molecular Biology, Vol 45, Iss 12, Pp 10018-10025 (2023) |
| Publisher Information: | MDPI AG, 2023. |
| Publication Year: | 2023 |
| Collection: | LCC:Biology (General) |
| Subject Terms: | inherited retinal disease, genetics, random allelic expression, monoallelic expression, Biology (General), QH301-705.5 |
| More Details: | Inherited retinal diseases (IRDs) are a significant contributor to visual loss in children and young adults, falling second only to diabetic retinopathy. Understanding the pathogenic mechanisms of IRDs remains paramount. Some autosomal genes exhibit random allelic expression (RAE), similar to X-chromosome inactivation. This study identifies RAE genes in IRDs. Genes in the Retinal Information Network were cross-referenced with the recent literature to identify expression profiles, RAE, or biallelic expression (BAE). Loss-of-function intolerance (LOFI) was determined by cross-referencing the existing literature. Molecular and biological pathways that are significantly enriched were evaluated using gene ontology. A total of 184 IRD-causing genes were evaluated. Of these, 31 (16.8%) genes exhibited RAE. LOFI was exhibited in 6/31 (19.4%) of the RAE genes and 18/153 (11.8%) of the BAE genes. Brain tissue exhibited BAE in 107/128 (83.6%) genes for both sexes. The molecular pathways significantly enriched among BAE genes were photoreceptor activity, tubulin binding, and nucleotide/ribonucleotide binding. The biologic pathways significantly enriched for RAE genes were equilibrioception, parallel actin filament bundle assembly, photoreceptor cell outer segment organization, and protein depalmitoylation. Allele-specific expression may be a mechanism underlying IRD phenotypic variability, with clonal populations of embryologic precursor cells exhibiting RAE. Brain tissue preferentially exhibited BAE, possibly due to selective pressures against RAE. Pathways critical for cellular and visual function were enriched in BAE, which may offer a survival benefit. |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 45120625 1467-3045 1467-3037 |
| Relation: | https://www.mdpi.com/1467-3045/45/12/625; https://doaj.org/toc/1467-3037; https://doaj.org/toc/1467-3045 |
| DOI: | 10.3390/cimb45120625 |
| Access URL: | https://doaj.org/article/a191a64ee68e49daa92c9e6c8fb0fe8e |
| Accession Number: | edsdoj.191a64ee68e49daa92c9e6c8fb0fe8e |
| Database: | Directory of Open Access Journals |
| ISSN: | 45120625 14673045 14673037 |
|---|---|
| DOI: | 10.3390/cimb45120625 |
| Published in: | Current Issues in Molecular Biology |
| Language: | English |