| Autor: |
Y. Q. Gao, Natik I. Piriev, Debora B. Farber, Andrea S. Viczian, Michael Danciger |
| Rok vydání: |
1997 |
| Předmět: |
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| Zdroj: |
Degenerative Retinal Diseases ISBN: 9781461377184 |
| Popis: |
Studies on animal models of retinitis pigmentosa and allied retinal degenerations have provided very useful information about the molecular basis of these diseases. The genes identified as responsible for the primary cause of the disorders in animals also have been found to be involved in some types of human retinal degenerations. For example, mutations in a rod photoreceptor-specific gene encoding the β-subunit of cGMP-phos- phodiesterase (β-PDE) (1–3) placed this gene as a strong candidate for the disease of rd mice. The β-PDE gene abnormality was confirmed to be the cause of the rd mouse disorder when the ill-fated photoreceptor cells were rescued in transgenic rd mice that had integrated the normal β-PDE gene into their genome (4). Later, another mutation in this gene was found to be responsible for the retinal degeneration of Irish setter dogs (5, 6). Hence, the rod β-PDE gene became a candidate for the cause of hereditary retinal degenerations in man. To date, 13 mutations of this gene have been described in families affected with autosomal recessive retinitis pigmentosa (RP) (7–11) and another mutation has been associated with autosomal dominant congenital stationary night blindness (12). |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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