TBX1: Difference between revisions

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Revision as of 21:50, 6 July 2010 view source Helen Ginn (talk \| contribs) 68 edits New page		Revision as of 11:38, 8 July 2010 view source Helen Ginn (talk \| contribs) 68 edits m →‎-39C → T: Minor typo Newer edit →
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	==-39C → T==		==-39C → T==

	The -39C → T mutant change affects the secondary structure of the mRNA. It lies outside of the 129 bp 5'-UTR, which ordinarily contains 76% GC content. Molecular modelling predicts a stable secondary structure for the wild-type TBX1, but the presence of T instead of C at -39 reduces the stability of this fold, reuslting in a different optimal folding from that of the wild type. Using luciferase as a marker, experiments showed that this ~~mutationg reatly~~ increases the amount of TBX1 present in the cell by about 2-fold. This results in the phenotype caused by overexpression of TBX1.		The -39C → T mutant change affects the secondary structure of the mRNA. It lies outside of the 129 bp 5'-UTR, which ordinarily contains 76% GC content. Molecular modelling predicts a stable secondary structure for the wild-type TBX1, but the presence of T instead of C at -39 reduces the stability of this fold, reuslting in a different optimal folding from that of the wild type. Using luciferase as a marker, experiments showed that this mutation greatly increases the amount of TBX1 present in the cell by about 2-fold. This results in the phenotype caused by overexpression of TBX1.