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Exam 3 Flashcards

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1
Q

Does a mutation have to be inherited?

A

Yes!

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2
Q

What is a somatic mutation?

A

A mutation in a non-reproductive cell

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3
Q

What does a somatic mutation do?

A

It generates a mosaic because some cells have the mutation and some don’t. Only descendants of the original mutation carry the mutation

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4
Q

What is a germline mutation?

A

A mutation in reproductive cells. The parent does not show a mutation but the offspring either show or do not show mutation

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5
Q

What is a codon?

A

3 nucleotide sequence that codes for a specific amino acid

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6
Q

What is a reading frame?

A

The series of codons that code for amino acids, starts at the start codon (AUG) that codes for Met

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7
Q

What is a transition mutation?

A

Mutation that changes pyrimidine to pyrimidine or purine to purine

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8
Q

What is a transversion mutation?

A

A mutation that changes purine (A/G) to pyrimidine (T (U)/C or vice-versa

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9
Q

What is a missense mutation?

A

A mutation that results in a different amino acid. This may or may not effect the phenotype

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10
Q

What is a nonsense mutation?

A

A mutation that results in a stop codon. Results in translation ending prematurely, severe phenotype effect

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11
Q

What is a silent mutation?

A

A mutation that does not alter the amino acid sequence, it has no phenotype effect

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12
Q

What is a forward mutation?

A

A mutation that alters the wild-type phenotype, a new mutation

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13
Q

What is a reverse mutation?

A

A mutation that reverses a forward mutation to go back to the wild-type. This is very rare.

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14
Q

What is a suppressor mutation?

A

2 different mutations occur on different genes. The combination of the two mutations causes the phenotype to go back to the original. This is for intergenic

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15
Q

What about a intragenic suppressor mutation?

A

The 2 mutations that reverse the first mutation occur at different sites on the same gene

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16
Q

What are the 3 main causes of mutation?

A

1) DNA replication errors, 2) DNA damage after replication, 3) Transposons or viral insertions after replication

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17
Q

How do DNA replication errors work?

A

If all of the review techniques do not catch the mutation, the mutation is fixed. This occurs during replication. This could be with point mutations or expanding trinucleotide repeats where mispairing occurs and extra repeats are formed

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18
Q

What happens in tautomeric shifts?

A

A proton shifts and the base is converted from the common form to the rare form. This causes incorrect base pairing. The base usually shifts back but the mutation is already recorded.

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19
Q

What happens with base analogs?

A

Chemicals with structures similar to bases can get ionized and pair wrong to cause a mutation

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20
Q

What happens with chemically induced mutations?

A

Mutagenic agents modify bases and cause misspairing

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21
Q

What happens in radiation induced mutations (X-rays, gamma rays, cosmic rays)

A

The radiation causes DNA damage either by altering the structure of bases, breaking bonds, and introducing double stranded DNA breaks

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22
Q

What happens with UV radiation caused mutation

A

This causes thymine dimers which distort the DNA and block replication.

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23
Q

What is a transposon?

A

Mobile genetic information that moves semi-autonomously and inserts randomly into the genome

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24
Q

What is the general structure of transposons?

A

A middle, inverted repeats

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25
What is replicative transposition?
copy and paste, the transposon replicates itself and the 2nd copy inserts into the genome
26
What is non-replicative transposition?
cut and paste, the original transposon cuts itself out and inserts into genome
27
What is retrotransposition?
It is where a transposon is transcribed to RNA and then reverse transcriptase turns the RNA to DNA and a 2nd DNA strand is synthesized then the full transposon now double stranded is inserted in the genome
28
What are the 2 types of mutagenic effects of transposons?
Gene disruption and chromosome rearrangement
29
What happens with gene disruption and what is an example of this?
The transposon inserts and disrupts gene. Color in grapes- black without transposon, green with transposition, red with partial removal of transposon
30
What happens with chromosome rearrangement?
2 transposons insert and they pair during mitosis, they cause a deletion or a duplication
31
What are the 3 types of bacterial transposons?
Insertion sequence, composite, and non-composite
32
What is an insertion sequence transposon?
The simplest bacterial transposon that only has an insertion sequence and info for movement
33
What is a composite transposon?
A transposon made up of 2 insertion sequences that can mobilize independently or together, when they move together they can carry the gene between the insertion sequences with them.
34
What is the non-composite transposon?
A transposon that doesn't require an insertion sequence. It is just many genes and transposase. The most complex
35
What are the 2 types of eukaryotic transposons?
Ac=fully functional, Ds=fractured not fully functional can not move without Ac provided transposase
36
How does variegation happen?
Ac causes Ds to go into gene and disrupt gene. Then Ds is removed at some point during development causing pigmentation. Depending on which point during development Ds is removed, amount of pigmentation is different
37
What are the 3 hypothesis of evolution of transposons?
Cellular function hypothesis. genetic variation hypothesis, and selfish gene hypothesis
38
What does the cellular function hypothesis say?
That transposons have a symbiotic relationship with the cell, they have a valuable function
39
What does the genetic variation hypothesis say?
Transposons exist to introduce genetic variability
40
What does the selfish gene hypothesis say?
Transposons are just like viruses that have no purpose just to replicate themselves and insert themselves into the genome like parasites
41
What is differential gene expression?
The process that determines which genes are translated under which conditions
42
What are the 3 differences between the structure of DNA and RNA
RNA is single-stranded, has uracil instead of thymine, and has a 2' OH instead of a H
43
What is the secondary structure of RNA?
It makes a double strand by folding on itself and making hairpins.
44
Why is the secondary structure like this for RNA and not DNA?
DNA is double stranded and RNA is single stranded
45
What is the function of mRNA?
mRNA is the coding sequence for proteins
46
What is the function of rRNA?
rRNA is non-coding, it makes up the ribosome
47
What is the function of snRNA?
It makes up the spliceosome
48
What is the function of miRNA?
It regulates transcription
49
What is the function of siRNA?
It degrades the target mRNA
50
Which DNA strand is used as the template?
The DNA strand with the promoter is used as the template strand
51
Relative to the template strand, which direction does transcription occur?
5' to 3'
52
Can units of transcription overlap?
Yes
53
What are the 3 components of a transcriptional unit?
A promoter, a RNA coding region, and a terminator
54
What are the 2 key elements associated with the bacterial promoter?
The Pribnow box at -10 and the TTGACA at -35
55
What enzyme complex recognizes the Pribnow box and TTAGACA
The holoenzyme, which is the RNA complex with the sigma complex
56
What role does the sigma factor play in the function of the bacterial RNA polymerase.
The sigma factor binds and initiates transcription. Without the sigma factor, transcription would start randomly without the promoter
57
What are the differences between prokaryotic and eukaryotic transcription
Prokaryotes have a transcription factor instead of promoter, a TATA box instead of Pribnow, a sigma factor that falls off in prokaryotes.
58
How many RNA polymerases are present in most eukaryotes?
3
59
WHat RNA polymerase transcribes mRNA?
Polymerase 2
60
What is the difference between the core promoter and the regulatory promoter?
The core promoter is used for basal, the regulatory promoter is used for enhanced. The regulatory promoter is upstream from the core promoter
61
Do eukaryotes have sigma like proteins?
TF2 binds to the TATA box but doesn't fall off. General transcription factors replace the sigma factor
62
What is the difference between eukaryotic and prokaryotic termination?
Rat cleaves without a loop and degrades, Rho forms a loop and cleaves off. Eukaryotic has cap and tail
63
What is a cistron?
A cistron is a section of DNA or RNA that codes for a specific polypeptide
64
What are UTRS
untranslated regions that have regulatory functions
65
What is the coding sequence?
The area from start to stop that codes for proteins
66
What is the 5' cap?
It is a modified guanine that increases stability, involved in the initiation of translation and is involved in the export from the nucleus, prokaryotic mRNAs are not capped
67
What is the poly(A) tail?
It is a series of adenine nucleotides that is at the end of eukaryotic mRNA. It is involved with mRNA stability, regulation of mRNA translation, and export from the nucleus
68
What are introns?
Intervening sequences
69
What are exons
Coding regions
70
What 3 sequences are required for splicing of eukaryotic mRNA?
The 5' splice site, branch point, and 3' splice site
71
What is the spliceosome?
A large 5 snRNP complex that splices out introns
72
What is the basic structure of an amino acid?
a carboxyl, amino group, hydrogen, and radical side chain
73
What varies between amino acids?
The radical side chain
74
Which type of bond is formed between amino acids in a protein
Peptide bond
75
Describe the 4 levels of structural organization in proteins
Primary= amino acid sequence, Secondary= initial interaction within the same strand, Tertiary= add foldings to the initial interactions, Quarternary= interaction between multiple amino acid chains
76
Translation is degenerate. What does that mean?
Multiple different codons can code for the same amino acid
77
As it relates to the genetic code, what is wobble?
Wobble is when the first 2 positions must pair perfectly but the 3rd position is flexible. If the first 2 positions are the same, it codes for the same amino acid (is synonymous)
78
What is a reading frame?
The amino acid coding sequence that starts with AUG that codes for Met
79
Is translation overlapping and how is it established?
Translation is never overlapping and is established by a start and a stop codon
80
What are the 2 steps in proofreading used by the ribosome to select the correct tRNA
One is rRNA proofreading through H-bonding and the other is proofreading that places strain.
81
How does the rRNA proofreading the H-bonding work?
incorrectly paired tRNAs at 1 or 2 are kicked out
82
How does the 16s proofreading place strain
The correct pairing fits perfectly and if it is not correctly paired, too much strain is applied and the pairing can not withstand it
83
What are the 4 major stages of translation?
1)tRNA charging, 2) Initiation, 3) Elongation, 4) Termination
84
What happens during tRNA charging?
amino acids are added to the tRNA at the acceptor stem
85
What happens during initiation of translation?
The ribosome binds to the start codon with an initiator tRNA
86
What happens during the elongation step of translation?
Amino acids are linked to the growing polypeptide chain
87
What happens during the termination step of translation
the ribosome reaches the stop codon and the polypeptide chain is released
88
What is mRNA surveillance?
It is mRNA and polypeptide quality control
89
What are the 3 types of mRNA surveillance
1) Nonsense-mediated, 2) Non-stop decay, 3)No-go decay
90
What is nonsense-mediated mRNA surveillance/
It identifies pre-mature stop codon and degrades the mRNA before translation can occur
91
What is non-stop decay?
the protein and mRNA are degraded when the ribosome translates into the poly(A) chain
92
What is no-go decay?
The ribosome stalls on the secondary and the protein is targeted for degradation
93
What are the 4 major classes of post-transcriptional protein modification?
1) Addition of functional groups, 2) Addition of other proteins or peptides, 3)changing chemical nature of amino acids, 4) Structural changes within protein

Genetics (3 decks)

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