The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD.
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Abstract
Using transgenic mice harboring a targeted LacZ insertion, we studied the expression pattern of the C9ORF72 mouse ortholog (3110043O21Rik). Unlike most genes that are mutated in amyotrophic lateral sclerosis (ALS), which are ubiquitously expressed, the C9ORF72 ortholog was most highly transcribed in the neuronal populations that are sensitive to degeneration in ALS and frontotemporal dementia. Thus, our results provide a potential explanation for the cell type specificity of neuronal degeneration caused by C9ORF72 mutations.
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Keywords
Acetylcholinesterase, Aged, Amyotrophic Lateral Sclerosis, Animals, Animals, Newborn, Brain, C9orf72 Protein, Cells, Cultured, Embryo, Mammalian, Frontotemporal Dementia, Gene Expression Regulation, Genotype, Guanine Nucleotide Exchange Factors, Homeodomain Proteins, Humans, Male, Mice, Mice, Transgenic, Mutation, Nerve Tissue Proteins, Neurons, Nuclear Proteins, Proteins, Repressor Proteins, Transcription Factors, Transfection
Journal Title
Nat Neurosci
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1097-6256
1546-1726
1546-1726
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16
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Springer Science and Business Media LLC
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