Good day,
I found by the Google this phrase in the scientific discussion:
Mice homozygous for the recessive Notch 1 mutation die as embryos. When the nucleotide sequences of the wild-type and mutant Notch 1 alleles are compared, the only difference is a silent mutation affecting a serine codon. The change is AGU (wild-type) to AGC (mutant).
This claim was not referenced and I can’t find any mention of this in the literature or databases
http://www.informatics.jax.org/allele/summary?markerId=MGI:97363
Does anyone know something about this mysterious mutation?
Thanks a lot.
Hi Lëonid,
I found your question interesting and looked into it a little, though this is not my area at all.
The suggestion is that silent mutations have the ability to affect mRNA folding, which alters presentation to the ribosome.
http://www.sciencemag.org/content/324/5924/255
This paper shows that the AGU to AGC mutation results in increased misreading of the transcript.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1885216/
Apparently, codon usage bias may play a smaller role.
Do you know where in the transcript this mutation actually occurs? It would be interesting to see if there was bias in degree of expression change in the transcript, based on the location of the mutation (eg. 5' UTR).
Knowing nature, I'll take a wild guess and say that the positions are not all equal.
I hope this gives you some idea of where to look further.
Kind regards,
Ioannis
Hi, Ioannis
Thanks alot for your suggestions. The paper from the Science is really wonderful.
I continue to hope that one wonderful day I will find the article or database entry describing the AGT>AGC mutation in Notch gene.
I guess that the author of initial message did not invent this mutation.
Thanks once again.
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