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Atf6 -/- mouse photoreceptors exhibit novel ciliary rootlet defect
Biorxiv : the Preprint Server for Biology
|February 27, 2026
Summary
Activating transcription factor 6 (ATF6) is crucial for sensory cell structure. ATF6 deficiency causes ciliary rootlet defects in mouse photoreceptors, impacting cellular integrity and potentially leading to vision and hearing loss.
Area of Science:
- Cell Biology
- Genetics
- Neuroscience
Background:
- Activating transcription factor 6 (ATF6) regulates the Unfolded Protein Response, maintaining cellular homeostasis during endoplasmic reticulum (ER) stress.
- Mutations in ATF6 cause photoreceptor dystrophy and sensorineural hearing loss in humans.
- Atf6 knockout mice exhibit progressive hearing loss and retinal dysfunction, indicating ATF6's role in sensory cell integrity.
Purpose of the Study:
- To investigate the role of ATF6 in maintaining the structural integrity of sensory cells.
- To analyze the retinal ultrastructure of Atf6 knockout mouse photoreceptors to identify specific defects.
Main Methods:
- Transmission electron microscopy was used to examine the ultrastructure of photoreceptors in Atf6 knockout mice.
- Comparative analysis of wild-type and Atf6 knockout mouse retinas.
Main Results:
- A novel defect was identified in Atf6 knockout mouse photoreceptors: the ciliary rootlet was unbundled, disorganized, and potentially detached from the basal body.
- These findings highlight ATF6's essential role in the structural organization of the photoreceptor ciliary apparatus.
Conclusions:
- ATF6 is essential for maintaining the structural organization of the photoreceptor ciliary apparatus.
- This study links ER proteostasis to cytoskeletal integrity.
- Provides a potential mechanistic basis for photoreceptor degeneration in ATF6-deficient patients.
