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Biology 1 > Mutations and Gene Regulation > Flashcards

Mutations and Gene Regulation Flashcards

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AP® Biology flashcards Biology 101 flashcards
1
Q

Define mutation.

A

Permanent changes in DNA!!

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2
Q

Define somatic mutation.

A

Mutations in the body cells in mitosis, mutations in all daughter cells.

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3
Q

Define germline mutation.

A

Mutations in cells that divide by meiosis, in gametes.

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4
Q

Describe what is observed in a silent mutation.

A

1 or 2 nucleotides change, but it still codes for the same amino acid, same protein and same phenotype. Mutation has no impact and is not visible.

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5
Q

Describe what is observed in a missense mutation.

A

1 or 2 nucleotides change, and it codes for a different amino acid, different protein, but same or different phenotype depending on the importance of the amino acid in the work of the protein.

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6
Q

Describe what is observed in a non-sense mutation.

A

1 or 2 nucleotides change, and it creates a STOP codon, which makes a shorter protein with less amino acids.

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7
Q

Describe what is observed in a frameshift insertion mutation.

A

Changes the reading frame by inserting 1-2 or 3 (triplet insertion) nucleotides. Changes the whole amino acid and the rest of the exon. Big effect on protein

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8
Q

Describe what is observed in a frameshift deletion mutation.

A

Changes the reading frame by deleting 1-2 or 3 (triplet deletion) nucleotides. Changes the whole amino acid and the rest of the exon + adds a new amino acid. Big effect on protein

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9
Q

Describe what is observed in a frameshift duplication mutation.

A

Changes the reading frame by duplicating 3 nucleotides. Changes the whole amino acid and the rest of the exon + repeats an amino acid. Big effect on protein

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10
Q

What is E.coli?

A

A type of bacteria in your gut that will metabolize lactose when glucose is not available.

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11
Q

Which types of regulation can turn OFF a gene?

A

Chromatin remodeling, repressors, DNA methylation, RNA interference.

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12
Q

Are the structural genes always transcribed?

A

No. only if needed.

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13
Q

Class them from fewest changes to most changes:

  1. Single base pair insertion near the end of an exon
  2. Single base deletion in the middle of an intron
  3. Base pair substitution that removes a splice site of an intron
A
  1. FEWEST: Single base deletion in the middle of an intron
  2. Single base pair insertion near the end of an exon
  3. MOST: Base pair substitution that removes a splice site of an intron
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14
Q

Describe Addition on a functional group.

A

A phosphate group can be removed or added to activate a protein.
Sugar molecules can be added to the protein to make it functional.
Does not increase gene expression.

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15
Q

Describe Alternative splicing.

A

Process where pieces are spliced randomly and allows for 1 gene to make many gene products. Depending on the splicing, it makes different tissues (brain, stomach, liver,…)

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16
Q

Describe Chromatin remodeling.

A

Changes in the chromatin structure that can turn on and off a gene

  • ON: Euchromatin: DNA is relaxed and easy to acces.
  • OFF: Heterochromatin: DNA is condense and hard to access.
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17
Q

Changes in the chromatin structure that can turn on and off a gene

  • ON: Euchromatin: DNA is relaxed and easy to acces.
  • OFF: Heterochromatin: DNA is condense and hard to access.
A

Methyl groups (CH3) are added to cytosine and can turn genes on/off.
ON: removing methyl groups
OFF: adding methyl groups
Passed on to future generations.

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18
Q

Describe Length of Poly-A-tail.

A

Increased length: longer: increase translation.

Decreased length: shorter: decrease translation.

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19
Q

Describe Multiple copies of a gene.

A

More than 1 copy of a gene is created which increases the amount of gene product.
Ex: multiple copies of tumor suppressing gene protects from cancer.

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20
Q

Describe RNA interference.

A

It target mRNA for degradation and stops translation using ds RNA. SIlences some part of the mRNA by blocking its translation.

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21
Q

Describe the function of cAMP

A

Cyclic adenosine monophosphate is present when glucose is low/absent and binds to the CAP protein to enable its function and activate the operon.

22
Q

Describe the function of CAP site

A

Catabolite Activator Protein site is the binding site where CAP+cAMP can attach on the DNA.

23
Q

Describe the function of CAP.

A

The Catabolite Activator Protein is an activator and a transcription factor that only functions when c-AMP is present. In this case, it binds to the CAP site and enhances transcription.

24
Q

Describe the function of Lac I gene.

A

Codes for the repressor protein= blocks transcription when attached to the operator.
It is a constitutive gene: always turned on.

25
Q

Describe the function of Lac Y gene.

A

Codes for lactose permease = transports lactose in the cell

26
Q

Describe the function of Lac Z gene?

A

Codes for B-galactisidase = enzyme that breaksdown lactose into glucose and galactose.

27
Q

Describe the function of O.

A

Operator, a piece of DNA between the promoter and the structural genes where the repressor protein can bind and block transcription.

28
Q

Describe the function of Plac.

A

Promoter of the Lac operon.
Binding site for RNA polymerase.
Transcribes 1 mRNA strand with 3 STOP codons.
Translates 3 proteins from 1 mRNA strand.

29
Q

Describe Transcription factors.

A

Activators turn gene on: bind near the promoter or to the enhancer.
Repressors turn gen off: bind near promoter.

30
Q

Describe Translational repression.

A

A RNA binding protein binds to the mRNA and decreases the rate of translation, which decreases gene expression.

31
Q

How can Lac I be turned off?

A

Lac I is always turned on since it is a constitutive gene. Hence, the repressor protein is always produced and always binds to the operator.

32
Q

How can’t the repressor protein block transcription?

A

When lactose is present, it creates a molecule that attache to the repressor protein and that changes its form. This change makes the repressor fall off the piece of DNA and, therefore, the RNA polymerase can bind to the promoter.

33
Q

How does RNA interference work?

A
  • Make ds RNA by folding a piece of RNA
  • Make RNA induced silencing complex (RISC)
  • RISC transports ds RNA out of nucleus and attaches to a protein to remove 1 of the strands
  • Bind to target mRNA
  • Prevent translation by cutting mRNA, or inhibiting translation (blocking)
34
Q

What are the needed conditions for the Lac operon to be activated/induced?

A
  • Lactose present

- Glucose low or absent.

35
Q

What are the segments removed in RNA splicing?

A

Introns.

36
Q

What are the segments represented in primary transcript?

A

Primary transcript= pre-mRNA (introns still present)
Start after the promoter all the way down to the enhancer (not included)
All the exons AND introns.

37
Q

What are the segments that bind with proteins that interact with the RNA polymerase?

A

Promoters and enhancers.

38
Q

What are the strutural genes?

A

Lac Z gene, Lac Y gene, Lac A gene.

39
Q

What are the types of regulation in eukaryotes?

A

Transcriptional, Post-transcriptional, Translational, Post-translational.

40
Q

What are the types of transcriptional regulation?

A
  • Chromatin remodeling/Changes in chromatin structure
  • Multiple copies of a gene
  • Transcription factors
  • DNA methylation
41
Q

What are transcription factors in prokaryotic regulation?

A

Transcription factors are required by the RNA polymerase to bind to the Lac Promoter.
Ex: CAP! So for transcription to occur, glucose needs to be absent/low so that c-AMP is produced and the CAP can bind and activate the RNA polymerase so that transcription can happen.

42
Q

What are types of Post-transcriptonal regulation (RNA)?

A
  • Alternative splicing

- RNA interference/Gene silencing

43
Q

What are types of Post-translational regulation?

A
  • Folding
  • Removing segments
  • Addition of a fucntional group
44
Q

What are types of Translational regulation?

A
  • Translational repression

- Lenght of Poly-A-tail

45
Q

What is the function of lactose in the Lac operon?

A

It removes the repressor and induces the operon.

46
Q

What is the function of Post-translational regulation?

A

It modifies the polypeptide chain (changes to the proteins) and can activate proteins but turning inactivate proteins into an active form.

47
Q

What is the function of the lac operon?

A

It metabolizes lactose with the use of genes and proteins.

48
Q

What is the function of Translational regulation?

A

It controls the rate of protein synthesis.

49
Q

When are the structural genes needed?

A

When glucose is absent and lactose is present.

50
Q

Which types of regulation can increase the amount of gene product ptoduced?

A

Multiple copies of a gene, Activators and enhancers, chromatin remodeling (no, but turns it on)

Biology 1 (9 decks)

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