Please answer ALL questions. Thank you!! There are no silent mutations in the li

Question

Please answer ALL questions. Thank you!!

There are no silent mutations in the list among the 170 known pathogenic alleles of DCX. Speculate why this might be the case? I did not include splice site mutations in our list What do you think a splice mutation might look like? Where is it likely to be located (be specific)? Among all the missense mutations, which are more prevalent: conservative or nonconservative missense mutations? Speculate about why this might be the case. 4. Where do the nonsense and frameshift mutations tend to map? Where do the missense mutations tend to map? Compare your answers to.4 and 5. Are there any trends? Speculate about these trends. Among the nucIeotide substitution mutations, which is more common, transitions or transversions? Speculate about what you observe? Among the nucleotide substitutions which base pair (C-G or A-T) is mutated the most often? Speculate about what you observe? Review your protein sequence alignment (attached to this homework sheet) Do any of your assigned mutations map to the aligned region? If yes, which ones and are the ammo acids conserved? Speculate about what this might mean.

Explanation / Answer

1. This is because mutant alleles are expressed codominantly and the severity of the disease is determined by the residual telomerase activity.Moreover,if we can identify one pathogenic mutation it can lead to the diagnosis of the disease.If any silent mutations would have been discovered then that mutation would have been non-pathogenic but all the known alleles are pathogenic so it shows no silent mutation have taken place.

2. A splice mutation results in addition,deletion or change in the number of nucleotides at a specific site at which splicing takes place during the synthesis of mature mRNA from precursor mRNA.

3. Conservative mis-sense mutations are more prevalent.This is because if the nonconservative would have been prevalent then the occurrence of the diseases would have been much higher with more deleterious effects.

4. Frameshift mutations results in deletion or insertion of one or two base pairs.These mutations results in loss of biological function of the protein product as they put the ribososme out of the correct reading frame.Though these mutations are not nonsense in nature but discloses nonsense codons resulting in polarity.

Nonsense mutations results in a premature stop codon and as a result yields shortened polypeptides which have either no activity or very diminished activity.They also disclose some polarity onto genes that are transcriptionally downstream.

5. Mis-sense mutations results in a different amino acid as compared to wild-type.It results in less functionally active proteins or inactive proteins or proteins with different function or conditionally active proteins.

6. They all tend to yield proteins which vary from the wild-type ones and the resulting mutated proteins are either inactive or less active.

7. Transitions are more common than transversions.It has been observed that transition mutations are 10 times more common than transversion mutations.

8. The base pair which is to be mutated among the two depends on their content in the DNA and the conditions favouring the type of substitution mutation among the two.

9. The protein sequence alignment attached to the sheet is not provided in the question.

9.

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