1QC8

NMR STRUCTURE OF TAU EXON 10 SPLICING REGULATORY ELEMENT RNA

1QC8 の概要

• エントリーDOI: 10.2210/pdb1qc8/pdb
• 分子名称: TAU EXON 10 SPLICING REGULATORY ELEMENT RNA (1 entity in total)
• 機能のキーワード: alternative mrna splicing, frontotemporal dementia ftdp-17, intronic mutations, stem-loop rna structure, tau gene exon 10, rna
• タンパク質・核酸の鎖数: 1
• 化学式量合計: 7990.78

構造登録者

Varani, L.,Spillantini, M.G.,Klug, A.,Goedert, M.,Varani, G. (登録日: 1999-05-18, 公開日: 1999-08-31, 最終更新日: 2022-03-02)

主引用文献

Varani, L.,Hasegawa, M.,Spillantini, M.G.,Smith, M.J.,Murrell, J.R.,Ghetti, B.,Klug, A.,Goedert, M.,Varani, G.
Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17.
Proc.Natl.Acad.Sci.USA, 96:8229-8234, 1999

PubMed Abstract: Coding region and intronic mutations in the tau gene cause frontotemporal dementia and parkinsonism linked to chromosome 17. Intronic mutations and some missense mutations increase splicing in of exon 10, leading to an increased ratio of four-repeat to three-repeat tau isoforms. Secondary structure predictions have led to the proposal that intronic mutations and one missense mutation destabilize a putative RNA stem-loop structure located close to the splice-donor site of the intron after exon 10. We have determined the three-dimensional structure of this tau exon 10 splicing regulatory element RNA by NMR spectroscopy. We show that it forms a stable, folded stem-loop structure whose thermodynamic stability is reduced by frontotemporal dementia and parkinsonism linked to chromosome 17 mutations and increased by compensatory mutations. By exon trapping, the reduction in thermodynamic stability is correlated with increased splicing in of exon 10.

PubMed: 10393977
DOI: 10.1073/pnas.96.14.8229

実験手法

SOLUTION NMR