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Random Allelic Expression in Inherited Retinal Disease Genes
Collin J Richards1, Jose S Pulido1
1Wills Eye Hospital, Mid Atlantic Retina, Philadelphia, PA 19107, USA.
Current Issues in Molecular Biology
|December 22, 2023
Summary
Random allelic expression (RAE) occurs in 16.8% of inherited retinal disease genes, potentially explaining disease variability. Brain tissue shows preferential biallelic expression (BAE), suggesting selective pressures.
Area of Science:
- Genetics
- Ophthalmology
- Molecular Biology
Background:
- Inherited retinal diseases (IRDs) are a leading cause of vision loss in young individuals.
- Understanding the genetic basis of IRDs is crucial for developing effective treatments.
- Some autosomal genes display random allelic expression (RAE), similar to X-chromosome inactivation.
Purpose of the Study:
- To identify genes exhibiting RAE in the context of IRDs.
- To investigate the relationship between RAE, biallelic expression (BAE), and loss-of-function intolerance (LOFI) in IRD-causing genes.
- To explore the functional pathways enriched in RAE and BAE genes.
Main Methods:
- Cross-referencing genes from the Retinal Information Network with literature for expression profiles (RAE/BAE).
- Determining loss-of-function intolerance (LOFI) using existing literature.
- Utilizing gene ontology to evaluate significantly enriched molecular and biological pathways.
Main Results:
- Out of 184 evaluated IRD genes, 31 (16.8%) exhibited RAE.
- LOFI was observed in 19.4% of RAE genes and 11.8% of BAE genes.
- Brain tissue predominantly showed BAE (83.6%), while RAE genes were enriched in pathways like photoreceptor cell outer segment organization.
Conclusions:
- RAE may contribute to the phenotypic variability observed in IRDs.
- Preferential BAE in brain tissue suggests selective pressures against RAE.
- Enriched pathways in BAE highlight its importance in cellular and visual function, potentially conferring a survival advantage.
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