| Popis: |
Mutations in the protein-coding region of the gene encoding the (β-subunit of cyclic GMP-phosphodiesterase (β-PDE) cosegregate with retinal degeneration affecting humans1, mice2,3 and dogs4,5. Moveover, given that the exonic sequences are intact, the lack or the suboptimal expression of the β-PDE gene can cause alterations in phototransduction leading to photoreceptor functional and structural abnormalities. In light of the involvement of the β-PDE gene defects in the development of retinal disease, it is important to understand the events that regulate the expression of this gene in rod photoreceptors of the human retina. |
