Abstract:
: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 critical for autophosphorylation. Although known to have roles in neuronal cell function, the STK38L pathway has not previously been implicated in normal or abnormal photoreceptor development. Loss of STK38L function in erd provides novel potential insights into the role of the STK38L pathway in neuronal and photoreceptor cell function, and suggests that genes in this pathway need to be considered as candidate genes for hereditary retinal degenerations.
journal_name
Genomicsjournal_title
Genomicsauthors
Goldstein O,Kukekova AV,Aguirre GD,Acland GMdoi
10.1016/j.ygeno.2010.09.003subject
Has Abstractpub_date
2010-12-01 00:00:00pages
362-8issue
6eissn
0888-7543issn
1089-8646pii
S0888-7543(10)00198-9journal_volume
96pub_type
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