Transcription Translation

Front 1

Transcription/Translation
Why are the telomers of a daughter cell shorter than in the original cell before cell division? This may be in part to blame for what biological process? In what biological circumstance are they generally not shortened?

Back 1

Repeat sequence.
part of aging. When cell uses up all of telomere apoptosis occurs
cancer cells overexpress telomerase which keeps cell immortal

Front 2

Transcription/Translation
What is a mutation responsible for Beta-thalassemia that lies outside any globin gene?

Back 2

Mutation in ORI

Front 3

Transcription/Translation
What is your definition of a gene?

Back 3

DNA sequence responsible for phenotype

Front 4

Transcription/Translation
What are some of the repeat sequences in this genome?

Back 4

Alu, Satellite DNA, Telomerases, and Promoters

Front 5

Transcription/Translation
Some of the genome has its function to encode proteins. What are some of the other regions of the genome that have other known functions?

Back 5

Do not encode proteins; rRNA, tRNA, snRNA,Xist

p.1 of notes

Front 6

Transcription/Translation
What are some of the more newly-appreciated contributions to the individual variation in humans?

Back 6

SNPs, INDEL, Duplications, Inversions

Front 7

Transcription/Translation
The part of a gene that transcription factors bind to is known as what? Keep straight that this is made of DNA and transcription factors are proteins.

Back 7

Promoter

Front 8

Transcription/Translation
Which of the following is not necessarily a conserved sequence (only one at this time)?

Back 8

Nucleotide sequence (motif) in a promoter region that is actively transcribed in such a manner that is to allow the organism to conserve energy

Front 9

Transcription/Translation
Can a human disease (e.g. thalassemia) result from a promoter region mutation in DNA sequence (hint- the promoter region is not part of the region of DNA that encodes a protein)? If so, what is the reason?

Back 9

Yes, gamma globulin can cause this (gamma globulin mutation at promoter region). Can have mutation at ORI See q2.

Front 10

Transcription/Translation
Name three ways DNA synthesis (replication) and RNA synthesis (transcription) are alike.

Back 10

1) Large complex of proteins
2) 5' to 3' direction
3) Use complementary base paring to make new chain
(Differences U instead of T and little proofreading in RNA synthesis)

Front 11

Transcription/Translation
Describe the transcriptional regulation of the LDL receptor gene by cholesterol. Include in your description what occurs at the membrane that initiates the regulation, where in the cell this occurs, the name of the transcription factor that results, where the transcription factor goes to activate the gene, and the site to which the transcription factor binds?

Back 11

Low cholesterol - transcription factor cleaved by protease, receptor element binding protein translocate to nucleus and binds to promoter region of LDL receptor gene = transcription of LDL. .

Front 12

Transcription/Translation
What DNA abnormality causes Fragile X syndrome, and what does that cause to happen too much or too little? What is thought to be a large part of the reason reproductive cloning is so fraught with difficulty?

Back 12

Triplett nucleotide repeat CGG causes methylation = decreased transcription factor causes neuro defects pass on to males as X linked.

Front 13

Transcription/Translation
What does rifampicin do? What does alpha-amanitin do? What is thought of as an antibiotic, and which a poison, and why?

Back 13

Rif - Transcription inhibitor of prokaryotic cells (good antibiotic)
Alpha - Transcription inhibitor, mushroom poison causing liver failure.

Front 14

Transcription/Translation
What is the first step of RNA processing known as?

Back 14

Capping

Front 15

Transcription/Translation
How many diseases are the result of the long poly-dT stretches of DNA that encode the poly-A tail of mRNAs?

Back 15

DNA doesnt encode for polyadenylation

Front 16

Transcription/Translation
What is the function polyadenylation?

Back 16

Enzamaticaly adds adenosines to 3' end of RNA. Allowing for mRNA stability.

Front 17

Transcription/Translation
What does alternative splicing allow?

Back 17

Removes intron copies from mRNA allowing exons to be used for translation

Front 18

Transcription/Translation
What disease that we talked about in the genetics lectures involves the deletion in an imprinting of a snRNP whose normal role is in splicing?

Back 18

Prader Willi or Angelman

Front 19

Transcription/Translation
Can a human disease (beta thalassemia) result from a mutation in DNA sequence in the intron? If so, what is the reason?

Back 19

Yes changes downstream splicing. Beta thalassemia

Front 20

Transcription/Translation
Give an example of the role of RNA degradation that involves a viral disease?

Back 20

HSV degrades the host cell mRNA which freeing host cell allowing for machinery to be used for viral DNA

Front 21

Transcription/Translation
How are tRNAs involved in breaking the genetic code? What is at one end of a tRNA and what is at the other end?

Back 21

It provides the anticodon. One end is anticodon the other is charged amino acid

Front 22

Transcription/Translation
What do we mean by activation of tRNA? What is the enzyme that links the amino acid to the tRNA? What antibiotic has this step as a drug target?

Back 22

Enzyme - Amino acyl tRNA synthetase
Antibiotic - Bactroban

Front 23

Transcription/Translation
Does the entire mRNA encode a protein? What is the role of the 5'UTR? What is the role of the 3'UTR?

Back 23

No.
5'UTR is translation regulation.
3'UTR is mRNA stability

Front 24

Transcription/Translation
Describe silent, missense, nonsense, and frameshift mutation? Which of these when mutated are likely to give rise to a genetic disease and describe how the protein is changed?

Back 24

Silent - base change still coding same amino acid.
Missense - base change forming new codon.
Nonsense - forms an early stop codon
Frameshift - changes all following amino acids (causes alpha thalassemia)
All but silent cause disease

Front 25

Transcription/Translation
The start codon of a gene related to a MAP Kinase Kinase Kinase is located in exon 2. If the DNA sequence in exon 3 of the MAP KKK related gene is mutated from ATG to ACG how does this alter the amino acid sequence? Would that be a silent, missense, or non sense mutation, or would there be a possibility of another kind of amino acid sequence change? How about if the mutation inverted the AT to TA (ATG to TAG)?

Back 25

Depending on alternative splicing, you could not get a protein. But if exon 2 was first and it still had the start codon compliment ATG, then you would at least get started. In exon 3, the conversion changes methionine (ATG) to Threonine (ACG). This is a missense mutation and unfortunately only one codon codes for methionine. If the DNA sequence of TAG (base pair compliments are UAG in RNA), you would get a nonsense mutation which means a premature stop codon.

Front 26

Transcription/Translation
If a gene sequence in the intron is inverted from TGG to GGT how does that alter the amino acid sequence? What type of mutation or another kind?

Back 26

Even though this is happening in an intron, there is still the possibility of misfolding of the protein but it would be some other change in AA sequence.

Front 27

Transcription/Translation
How many subunits in a ribosome? What are their names?
*Prokaryotes and mitochondria ribosome closely related

Back 27

2 subunits large and small.

Front 28

Transcription/Translation
What nucleotide is directly consumed in translation?

Back 28

GTP

Front 29

Transcription/Translation
What are the three repeated steps of translation, repeated each time an amino acid is added to the growing polypeptide chain?

Back 29

Binding, Bonding, Translocation

Front 30

Transcription/Translation
What are the processes effected and site of action of gentamicin, tetracycline, erythromycin, chloramphenicol, and ricin?

Back 30

Genta - effects initiation, binds small subunit of ribosome, inhibits bacteria.
Tetra - interferes with binding, Small subunit.
Eryth - Translocation, binds large subunit.
Chlora - Bonding of peptidyl transferase
Ricin - Inhibits translation

Front 31

Transcription/Translation
Why does gentamicin effect hearing walking and renal function in some families?

Back 31

Oxidative damage

Front 32

Transcription/Translation
Compare the use of tetracycline in prokaryotes vs eukaryotes?

Back 32

Binds equally to both but cant cross E cell membrane

Front 33

Transcription/Translation
What is the most serious adverse effect of chloramphenicol use?

Back 33

Fatal aplastic anemia

Front 34

Transcription/Translation
What has the indiscriminate use of antibiotics in past decades lead to that is now a big concern for medicine?

Back 34

Overuse of antibiotics leading to antibiotic resistance

Front 35

Transcription/Translation
Give examples of mechanisms by which antibiotic resistance in bacteria arises?

Back 35

1) Mutate binding site for drug
2) Transport a drug out
3) Degrade a drug

Front 36

Transcription/Translation
How can a mechanism of antibiotic resistance be readily passed between different strains in species of bacteria?

Back 36

plasmids during conjugation or transformation

Front 37

Transcription/Translation
What class of antibiotics does Ketek belong to? What is so special about Ketek that helps it avoid antibiotic resistance due to mutation of its binding site?

Back 37

Semisynthetic erythromycin. Binds to both subunits of ribosome

Front 38

Transcription/Translation
What class of antibiotics does Zyvox belong to? What is so special about Zyvox that helps it avoid antbiotic resistance?

Back 38

Translational Inhibitor. Binding sites on ribosomes differ from other sites.

Front 39

Transcription/Translation
What class of antibiotics does augmentin belong to? What is contained in augmentin that helps it avoid antibiotic resistance due to degradation of the antibiotic molecule?

Back 39

Made of Amoxycillin and Calveulante.

Front 40

Transcription/Translation
What protein does dipteria toxin modify? What does the protein that gets modified normally do? What is the molecule that is added to the protein and what does it normally do? How does this modification affect translation?

Back 40

eEF2 is a translocase (Elongation Factors) Gets blocked by dipthamide. Inihibits histidine side chain on eEF2
?????????????????

Front 41

Transcription/Translation
Describe the regulation of mRNA stability and the translational regulation due to iron?

Back 41

?

Front 42

Transcription/Translation
Describe the translational regulation do to heme?

Back 42

If heme is available, translation proceeds. If not present, HCIK binds to eEF2 which inactivates translation.

Front 43

Transcription/Translation
What is siRNA and what is its effect?

Back 43

Short Interfering RNA, increases the degradation of mRNA

Front 44

Transcription/Translation
What is a (mu)RNA and what is its effect?

Back 44

One base pair mismatch, inhibiting translation specific to one mRNA.

Front 45

Transcription/Translation
Is the sequence of a protein at the time of its release from the ribosome the same as the sequence of a protein when it is properly located in the cell and becomes active?

Back 45

No, proteins when leaving ribosome could be folded or have sugars/lipids added

Front 46

Transcription/Translation
What is the information that can determine protein localization that is often found within the protein sequence known as? What are 2 examples of additions to a protein that can determine protein localization? What are some diseases newly thought to result from copy # variants? What are copy number variants?

Back 46

SKL (Serine Lysine Leucine) at tail signals translocation through peroxisomes. PEST found at high frequencies signals degradation.