期刊
NATURE NEUROSCIENCE
卷 18, 期 8, 页码 1175-+出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nn.4065
关键词
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资金
- National Institutes of Health/National Institute on Aging [R01AG026251, P50AG016574]
- National Institutes of Health/National Institute of Neurological Disorders and Stroke [R21NS089979, R21NS084528, R01NS088689, R01NS077402, R01NS063964, P01NS084974]
- National Institute of Environmental Health Sciences [R01ES20395]
- Department of Defense [ALSRP AL130125]
- Mayo Clinic Foundation
- Mayo Clinic Center for Individualized Medicine
- ALS Association
- Robert Packard Center for ALS Research at Johns Hopkins
- Canadian Institutes of Health Research
- Siragusa Foundation
- Robert and Clarice Smith & Abigail Van Buren Alzheimer's Disease Research Foundation
- Donors Cure Foundation
- Target ALS
- NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES [R01ES020395] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [T32GM072474] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [R01NS063964, R21NS089979, R01NS088689, P01NS084974, R01NS077402, R21NS084528] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE ON AGING [R01AG026251, P50AG016574] Funding Source: NIH RePORTER
Increasing evidence suggests that defective RNA processing contributes to the development of amyotrophic lateral sclerosis (ALS). This may be especially true for ALS caused by a repeat expansion in C9orf72 (c9ALS), in which the accumulation of RNA foci and dipeptide-repeat proteins are expected to modify RNA metabolism. We report extensive alternative splicing (AS) and alternative polyadenylation (APA) defects in the cerebellum of c9ALS subjects (8,224 AS and 1,437 APA), including changes in ALS-associated genes (for example, ATXN2 and FUS), and in subjects with sporadic ALS (sALS; 2,229 AS and 716 APA). Furthermore, heterogeneous nuclear ribonucleoprotein H (hnRNPH) and other RNA-binding proteins are predicted to be potential regulators of cassette exon AS events in both c9ALS and sALS. Co-expression and gene-association network analyses of gene expression and AS data revealed divergent pathways associated with c9ALS and sALS.
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