Exonic SINE insertion in STK38L causes canine early retinal degeneration (erd).
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ABSTRACT:
SUBMITTER: Goldstein O
PROVIDER: S-EPMC2996878 | biostudies-literature | 2010 Dec
REPOSITORIES: biostudies-literature
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Exonic SINE insertion in STK38L causes canine early retinal degeneration (erd).
Goldstein Orly O Kukekova Anna V AV Aguirre Gustavo D GD Acland Gregory M GM
Genomics 20100929 6
Fine mapping followed by candidate gene analysis of erd - a canine hereditary retinal degeneration characterized by aberrant photoreceptor development - established that the disease cosegregates with a SINE insertion in exon 4 of the canine STK38L/NDR2 gene. The mutation removes exon 4 from STK38L transcripts and is predicted to remove much of the N terminus from the translated protein, including binding sites for S100B and Mob proteins, part of the protein kinase domain, and a Thr-75 residue cr ...[more]
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