Article
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.
American journal of human genetics - 1 Dec 2006
Friedman James S, Chang Bo, Kannabiran Chitra, Chakarova Christina, Singh Hardeep P, Jalali Subhadra, Hawes Norman L, Branham Kari, Othman Mohammad, Filippova Elena, Thompson Debra A, Webster Andrew R, Andréasson Sten, Jacobson Samuel G, Bhattacharya Shomi S, Heckenlively John R, Swaroop Anand
Abstract excerpt
The rd3 mouse is one of the oldest identified models of early-onset retinal degeneration. Using the positional candidate approach, we have identified a C-->T substitution in a novel gene, Rd3, that encodes an evolutionarily conserved protein of 195 amino acids. The rd3 mutation results in a predicted stop codon after residue 106. This change is observed in four rd3 lines derived from the original collected mice...
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