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Gene mutation and DNA repair - Effects of mutations on gene structure and function

21 important questions on Gene mutation and DNA repair - Effects of mutations on gene structure and function

What is a transversion?

A transversion is when a purine and a pyrimidine are interchanged.

What kind of mutation is this?
5'-AACGCTAGATC-3'
3'-TTGCGATCTAG-3'
|
V
5'-AACGCGAGATC-3'
3'-TTGCGCTCTAG-3'

This is a transversion of the T to a G in the top strand:
5'-AACGCTAGATC-3'
3'-TTGCGATCTAG-3'
|
V
5'-AACGCGAGATC-3'
3'-TTGCGCTCTAG-3'

What are nonsense mutations?

Nonsense mutations involve a change from a normal codon to a stop codon. This change terminates the translation of the polypeptide earlier than expected, producing a truncated polypeptide.

What is an example of a neutral mutation?

An example of a neutral mutation is a missense mutation that substitutes an amino acid with a similar chemistry to that of the original amino acid

What are up promoter mutations?

Up promoter mutations are promoter mutations that increase the rate of transcription.

What is a down promoter mutation?

A down promoter mutation causes the promoter to become less like the consensus sequence, decreasing its affinity for transcription factors and decreasing the transcription rate.

What is an example of a down promoter mutation?

An example of a down promoter mutation is a mutation in the TATA box. If a mutation occurs here, the transcription factors don't recognize it anymore and RNA polymerase cannot bind as easily.

What are the possible consequences of a mutation in a regulatory element/operator site?

A mutation in a regulatory element/operator site may disrupt the ability of the gene to be properly regulated.

What are the possible consequences of a mutation in the 5'-UTR/3'-UTR?

A mutation in the 5'-UTR/3'UTR may alter the ability of mRNA to be translated, or mRNA stability could be altered.

What are the possible consequences of a mutation in the splice recognition sequence?

A mutation in the splice recognition sequence may alter the ability of pre-mRNA to be properly spliced.

What is a mutant allele?

A mutant allele is a mutated sequence of DNA that is rare in a population.

What is a reversion?

A reversion is when a mutant allele is changed back to a wild-type allele.

What is a lethal mutation?

A lethal mutation is an example of a deleterious mutation. It results in the death of a cell or organism.

What is a beneficial mutation?

A beneficial mutation enhances the survival or reproductive success of an organism.

What are suppressors or suppressor mutations?

Suppressors or suppressors mutations are second-site mutations that convert the mutant back to the wild-type phenotype.

What is an intergenic suppressor?

An intergenic suppressor is a suppressor mutation that is in a different gene from the gene that contains the first mutation.

What is a chromosomal breakpoint?

A chromosomal breakpoint is a region where two chromosome pieces break and rejoin with other chromosome pieces.

What happens when the change in gene location has a position effect?

When the change in gene location has a position effect, the gene may be left intact but its expression may be altered when it is moved to a new location.

Has the DNA sequence of the eye color gene been changed in part b compared with part a? How do we explain the phenotypic difference?

The sequence of DNA has not been changed. The difference in phenotype is because of a position effect.

Can this trait be passed to offspring?

No, this is due to a mutation in a somatic cell and somatic mutations cannot be passed on to offspring.

When can a germ-line mutation happen?

It can happen directly in a sperm or egg cell, or it can occur in a precursor cell that produces the gametes.

The question on the page originate from the summary of the following study material:

Genetics Analysis and Principles | 9780071315463 | Robert J Brooker

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Gene mutation and DNA repair - Effects of mutations on gene structure and function

21 important questions on Gene mutation and DNA repair - Effects of mutations on gene structure and function

What is a transversion?

What kind of mutation is this?5'-AACGCTAGATC-3'3'-TTGCGATCTAG-3' | V5'-AACGCGAGATC-3'3'-TTGCGCTCTAG-3'

What are nonsense mutations?

What is an example of a neutral mutation?

What are up promoter mutations?

What is a down promoter mutation?

What is an example of a down promoter mutation?

What are the possible consequences of a mutation in a regulatory element/operator site?

What are the possible consequences of a mutation in the 5'-UTR/3'-UTR?

What are the possible consequences of a mutation in the splice recognition sequence?

What is a mutant allele?

What is a reversion?

What is a lethal mutation?

What is a beneficial mutation?

What are suppressors or suppressor mutations?

What is an intergenic suppressor?

What is a chromosomal breakpoint?

What happens when the change in gene location has a position effect?

Has the DNA sequence of the eye color gene been changed in part b compared with part a? How do we explain the phenotypic difference?

Can this trait be passed to offspring?

When can a germ-line mutation happen?

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What kind of mutation is this?
5'-AACGCTAGATC-3'
3'-TTGCGATCTAG-3'
|
V
5'-AACGCGAGATC-3'
3'-TTGCGCTCTAG-3'