期刊
PLOS ONE
卷 10, 期 10, 页码 -出版社
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pone.0141298
关键词
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资金
- Jerry McDonald HD Research Fund
- US National Institutes of Health [R01-NS073947, R01-NS076843]
- Harvard Brain Tissue Resource Center [HHSN-271-2013-0030C]
- NSF-EArly-concept Grants for Exploratory Research (EAGER) [PHY-1444389]
- Direct For Mathematical & Physical Scien
- Division Of Physics [1444389] Funding Source: National Science Foundation
Despite 20 years since its discovery, the gene responsible for Huntington's Disease, HTT, has still not had its function or transcriptional profile completely characterized. In response to a recent report by Ruzo et al. of several novel splice forms of HTT in human embryonic stem cell lines, we have analyzed a set of mRNA sequencing datasets from post mortem human brain from Huntington's disease, Parkinson's disease, and neurologically normal control subjects to evaluate support for previously observed and to identify novel splice patterns. A custom analysis pipeline produced supporting evidence for some of the results reported by two previous studies of alternative isoforms as well as identifying previously unreported splice patterns. All of the alternative splice patterns were of relatively low abundance compared to the canonical splice form.
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