Stuff you missed Flashcards

1
Q

What is the function of DNA pol a?

A

Contains primase and initiates DNA synthesis

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2
Q

What are three diseases linked to mitochondrial DNA depletion?

A

Alper’s Syndrome

Progressive External Ophthalmoplegia

Ataxia-neuropathy syndrome

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3
Q

What is the significance of high ratios of NADH to NAD in mitochondrial DNA depletion?

A

Decreases mitochondrial beta oxidation and impairs fatty acid oxidation

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4
Q

What is the red flag clinical presentation of mitochondrial disorders?

A

Multi-organ disturbance, with highly energy-demanding organs most commonly involved

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5
Q

What type of repair is photoreactivation?

A

Direct repair mechanism in bacteria for repairing pyrimidine dimers

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6
Q

What are examples of illegitimate DNA recombination?

A

Unequal crossing over

Integration of virial genomes

Rearrangement of Immunoglobulin genes during differentiation in precursor cells and B lymphocytes

Movement of transposons (Alu sequences)

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7
Q

Why are salvage pathways preferable to de novo synthesis?

A

De novo synthesis is energy expensive – every step adding an amino acid and closing the ring requires ATP

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8
Q

Why does Adenosine deaminase (ADA) deficiency cause SCID?

A

Results in excess ATP and dATP, causing negative feedback of ribonucleotide reductase, inhibits deoxy- purines and pyrimidines for DNA replication

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9
Q

What are two features of euchromatin?

A

Open structure, Active

Subject to DNAase 1 cutting

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10
Q

What is the Lyon hypothesis?

A

Methylated sections of chromosome are Barr bodies, however the same chromosome is not always the one methylated

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11
Q

What is responsible for maintaining methylation status in eukaryotic cells?

A

DNMT1 - dna methyltransferase

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12
Q

What enzymes are responsbile for denovo methylation

A

DNMT3A

DNMT3B

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13
Q

What are five characteristics of enhancers?

A
  • turn on transcription
  • can be upstream or downstream, location doesn’t matter
  • can be on an intron
  • sequence can be backward
  • Can be tissue specific
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14
Q

What are the three proteins involved in ubiquitination?

A

U-activating enzyme

U-conjugating enzyme

U-ligase

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15
Q

What is a proteasome?

A

Large protein-degrading structures that bind ubiquitin-labeled proteins and remove the ubiquitin.

Central channel hydrolyzes peptide bonds, ATP-dependent

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