1qc8
From Proteopedia
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'''NMR STRUCTURE OF TAU EXON 10 SPLICING REGULATORY ELEMENT RNA''' | '''NMR STRUCTURE OF TAU EXON 10 SPLICING REGULATORY ELEMENT RNA''' | ||
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==About this Structure== | ==About this Structure== | ||
| - | + | Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1QC8 OCA]. | |
==Reference== | ==Reference== | ||
Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17., Varani L, Hasegawa M, Spillantini MG, Smith MJ, Murrell JR, Ghetti B, Klug A, Goedert M, Varani G, Proc Natl Acad Sci U S A. 1999 Jul 6;96(14):8229-34. PMID:[http://www.ncbi.nlm.nih.gov/pubmed/10393977 10393977] | Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17., Varani L, Hasegawa M, Spillantini MG, Smith MJ, Murrell JR, Ghetti B, Klug A, Goedert M, Varani G, Proc Natl Acad Sci U S A. 1999 Jul 6;96(14):8229-34. PMID:[http://www.ncbi.nlm.nih.gov/pubmed/10393977 10393977] | ||
| - | [[Category: Protein complex]] | ||
[[Category: Goedert, M.]] | [[Category: Goedert, M.]] | ||
[[Category: Klug, A.]] | [[Category: Klug, A.]] | ||
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[[Category: Varani, G.]] | [[Category: Varani, G.]] | ||
[[Category: Varani, L.]] | [[Category: Varani, L.]] | ||
| - | [[Category: | + | [[Category: Alternative mrna splicing]] |
| - | [[Category: | + | [[Category: Frontotemporal dementia ftdp-17]] |
| - | [[Category: | + | [[Category: Intronic mutation]] |
| - | [[Category: | + | [[Category: Stem-loop rna structure]] |
| - | [[Category: | + | [[Category: Tau gene exon 10]] |
| - | + | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Sat May 3 06:07:11 2008'' | |
| - | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on | + | |
Revision as of 03:07, 3 May 2008
NMR STRUCTURE OF TAU EXON 10 SPLICING REGULATORY ELEMENT RNA
Overview
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.
About this Structure
Full crystallographic information is available from OCA.
Reference
Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17., Varani L, Hasegawa M, Spillantini MG, Smith MJ, Murrell JR, Ghetti B, Klug A, Goedert M, Varani G, Proc Natl Acad Sci U S A. 1999 Jul 6;96(14):8229-34. PMID:10393977 Page seeded by OCA on Sat May 3 06:07:11 2008
