title: The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD.
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.
authors.affiliation: 1] The Howard Hughes Medical Institute, Harvard Stem Cell Institute, Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, Massachusetts, USA. [2].
authors.forename: Naoki
authors.initials: N
authors.lastname: Suzuki
authors.forename: Asif M
authors.initials: AM
authors.lastname: Maroof
authors.forename: Florian T
authors.initials: FT
authors.lastname: Merkle
authors.forename: Kathryn
authors.initials: K
authors.lastname: Koszka
authors.forename: Atsushi
authors.initials: A
authors.lastname: Intoh
authors.forename: Ian
authors.initials: I
authors.lastname: Armstrong
authors.forename: Rob
authors.initials: R
authors.lastname: Moccia
authors.forename: Brandi N
authors.initials: BN
authors.lastname: Davis-Dusenbery
authors.forename: Kevin
authors.initials: K
authors.lastname: Eggan
mesh_terms: D000110:Acetylcholinesterase / Q000378:metabolism; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000473:pathology; D000818:Animals; D000831:Animals, Newborn; D001921:Brain / Q000473:pathology*; D000073885:C9orf72 Protein; D002478:Cells, Cultured; D004622:Embryo, Mammalian; D057180:Frontotemporal Dementia / Q000235:genetics* / Q000473:pathology; D005786:Gene Expression Regulation / Q000235:genetics*; D005838:Genotype; D020662:Guanine Nucleotide Exchange Factors / Q000378:metabolism; D018398:Homeodomain Proteins / Q000378:metabolism; D006801:Humans; D008297:Male; D051379:Mice; D008822:Mice, Transgenic; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000378:metabolism; D009474:Neurons / Q000473:pathology*; D009687:Nuclear Proteins / Q000378:metabolism; D011506:Proteins / Q000235:genetics*; D012097:Repressor Proteins / Q000378:metabolism; D014157:Transcription Factors; D014162:Transfection
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; C000606498:C9orf72 protein, mouse; C080632:CUX1 protein, human; D020662:Guanine Nucleotide Exchange Factors; D018398:Homeodomain Proteins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D011506:Proteins; D012097:Repressor Proteins; D014157:Transcription Factors; D000110:Acetylcholinesterase