I have identified a gene with single base variation which is highly expressed. The mutation is present in a coding region but not in a promoter region. Would any one tell me how a mutation in coding region of the gene will affect the gene expression?
Hi Malek,
The mutation could simply has no effect on the enzyme expression and will be considered as polymorphism.
However, it may create a stop codon which will interrupt the gene sequence.
It may also give you another amino acid, and the effect will depend on the region in the enzyme. So you may get a non/less active enzyme or better have an improved enzyme.
Best luck.
Hi malek
is this gene under retro regulation? does the mutation introduce a change in AA leading to a change in self regulation?
or simply a change in the DNA conformation so that the gene is more accessible to enzymes and expression is boosted...
fred
In regard with expression the ribosome machins prefer one code from another code , if you mean its silent mutation its may be the ribosome not tend to translate the mutated codon as its tend to wild type codon
Hi Malek,
As you have mentioned, the mutation is a non-synonymous one, so if that reading frame is going to make a protein, its definitely will be a different from the non-mutated one. However, you only have observed the mRNA (transcript expression) so it is not sure about the fate.
How do you relate the SNP with the higher expression of the gene?
Please explain your study design (like what condition and which platform you have calculated the expression of that gene). The other genes which have shown similar expression may help you to confirm the reason of higher expression.
hi
https://www.ncbi.nlm.nih.gov/pubmed/19768584
https://www.ncbi.nlm.nih.gov › NCBI ›
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