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Exploring Sequence Space to Identify Binding Sites for Regulatory RNA-Binding Proteins
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Spt4选择性地调节C9orf72感觉和反感觉突变转录的表达

Nicholas J Kramer1, Yari Carlomagno2, Yong-Jie Zhang2

  • 1Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA. Neurosciences Graduate Program, Stanford University School of Medicine, Stanford, CA, USA.

Science (New York, N.Y.)
|August 13, 2016
PubMed
概括

针对Spt4蛋白有效降低C9orf72相关的前性痴呆症/ 性侧面硬化症 (c9FTD/ ALS) 的毒性RNA和蛋白质产生,提供了一个有前途的治疗策略.

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RNA Splicing01:32

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
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Nonsense-mediated mRNA Decay

The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
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