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Old 12-07-2014, 02:48 AM   #1
Mamjoy
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Default Effects of Heterozygous and homozygous SNPS on RNA and Protein expression

Hello everyone, my name is Mamjoy. I am very new to this site but have been following the site keenly.
I have a question and I will be glad if the wonderful community members would help me with. It is as follows:
“What will happen to the amount and properties of RNA and the expressed proteins when there is a heterozygous SNP in the UAS, promoter, 5’UTR, exon (IN THE THIRD nucleotide of the CODON), intron, poly A, or at 3’UTR. On the other hand what will happen if the SNP is homozygous?”
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Old 12-07-2014, 07:35 AM   #2
dpryan
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The answer in general is, "it's impossible to know" to all of these. The only way you can accurately predict the answer to these is by having done a LOT of molecular biology structure/function work on the exact gene in question previously.
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Old 12-07-2014, 11:06 AM   #3
Mamjoy
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dpryan, thanks for the response.

What I mean is for example: if a heterozygous SNP occurs in the UAS, would it affect the properties of the rna or expressed protein, eg there would be a shorter protein, or a different protein will be expressed. This is the type of answer I am looking for all the other regions mentioned above.

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Old 12-07-2014, 11:16 AM   #4
dpryan
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I know, and there's no general answer to that question for any given region. For example, a SNP in a coding sequence may or may not result in a truncated protein...it depends entirely on what the original codon was. The same is true for altered expression/RNA stability. Similarly, a mutation in an intronic splice donor site could certainly alter the resulting protein, though a random other intronic variant could (or likely wouldn't) as well. That's why I wrote that there's no general answer for a given region. You actually have to know a fair bit about a given gene (not to mention the organism in question) to make an educated prediction.
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Old 12-07-2014, 12:40 PM   #5
Mamjoy
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Thanks dpryan
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Old 12-08-2014, 01:42 PM   #6
lilyan
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I remember I read a paper abt this days ago, saying different consequences of point mutation
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Old 12-09-2014, 01:41 AM   #7
Mamjoy
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lilyan, I think that could be helpful. what's the reference for the paper? or what did it say?

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Old 12-10-2014, 04:23 PM   #8
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I tried to remember every point, but...it is a long paper through.... leave me the email, I'll send to you asap
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