Exonic SINE insertion in STK38L causes canine early retinal degeneration ( erd)

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 t...

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Bibliographic Details
Published in:Genomics (San Diego, Calif.) Calif.), 2010-12, Vol.96 (6), p.362-368
Main Authors: Goldstein, Orly, Kukekova, Anna V., Aguirre, Gustavo D., Acland, Gregory M.
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Animal model
Animals
Base Sequence
Biological and medical sciences
Disease Models, Animal
Dogs
Exons - genetics
Fundamental and applied biological sciences. Psychology
Genes. Genome
Genetic Linkage
Genetics of eukaryotes. Biological and molecular evolution
Humans
Leber Congenital Amaurosis
Medical sciences
Molecular and cellular biology
Molecular genetics
Molecular Sequence Data
Mutagenesis, Insertional
Mutation
Ophthalmology
Photoreceptor Cells - metabolism
Protein-Serine-Threonine Kinases - genetics
Radiation Hybrid Mapping
Retinal degeneration
Retinal Degeneration - genetics
Retinaldehyde - metabolism
Retinopathies
Sequence Analysis, DNA
Short Interspersed Nucleotide Elements - genetics
STK38L
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Summary: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.
ISSN:0888-7543
1089-8646
DOI:10.1016/j.ygeno.2010.09.003