1q75: Difference between revisions
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==Solution structure of the dyskeratosis congenita mutant P2b hairpin from human telomerase RNA== | |||
<StructureSection load='1q75' size='340' side='right'caption='[[1q75]]' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[1q75]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1Q75 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1Q75 FirstGlance]. <br> | |||
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr> | |||
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=1q75 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1q75 OCA], [https://pdbe.org/1q75 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1q75 RCSB], [https://www.ebi.ac.uk/pdbsum/1q75 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1q75 ProSAT]</span></td></tr> | |||
</table> | |||
<div style="background-color:#fffaf0;"> | |||
== Publication Abstract from PubMed == | |||
Autosomal dominant dyskeratosis congenita (DKC) has been linked to mutations in the RNA component of telomerase, the ribonucleoprotein responsible for telomere maintenance. Recent studies have investigated the role of the GC (107-108) --> AG mutation in the conserved P3 helix in the pseudoknot domain of human telomerase RNA. The mutation was found to significantly destabilize the pseudoknot conformation, resulting in a shift in the thermodynamic equilibrium to favor formation of a P2b hairpin intermediate. In the wild-type sequence, the hairpin intermediate was found to form a novel sequence of pyrimidine base pairs in a continuous stem capped by a structured pentaloop. The DKC mutant hairpin was observed to be slightly more stable than the wild-type hairpin, further shifting the pseudoknot-hairpin equilibrium to favor the mutant P2b hairpin. Here we examined the solution structure of the DKC mutant hairpin to identify the reason for this additional stability. We found that the mutant hairpin forms the same stem structure as wild-type and that the additional stabilization observed using optical melting can be explained by the formation of a YNMG-type tetraloop structure, with the last nucleotide of the pentaloop bulged out into the major groove. Our results provide a structural explanation for the increased stability of the mutant hairpin and further our understanding of the effect of this mutation on the structure and stability of the dominant conformation of the pseudoknot domain in this type of DKC. | |||
YNMG tetraloop formation by a dyskeratosis congenita mutation in human telomerase RNA.,Theimer CA, Finger LD, Feigon J RNA. 2003 Dec;9(12):1446-55. PMID:14624001<ref>PMID:14624001</ref> | |||
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br> | |||
</div> | |||
<div class="pdbe-citations 1q75" style="background-color:#fffaf0;"></div> | |||
==See Also== | ==See Also== | ||
*[[Telomerase|Telomerase]] | *[[Telomerase 3D structures|Telomerase 3D structures]] | ||
== References == | |||
== | <references/> | ||
< | __TOC__ | ||
[[Category: | </StructureSection> | ||
[[Category: | [[Category: Homo sapiens]] | ||
[[Category: | [[Category: Large Structures]] | ||
[[Category: | [[Category: Feigon J]] | ||
[[Category: | [[Category: Finger LD]] | ||
[[Category: Theimer CA]] | |||