TBX1: Difference between revisions

From Proteopedia
Jump to navigationJump to search
New page
 
m →-39C → T: Minor typo
Line 32: Line 32:
==-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.