Functions and Dysfunctions of Genomic Regulation Flashcards

1
Q

What effect does acetylation have on chromatin?

A

It opens the chromatin and transcriptionally activates it.

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2
Q

What residues of histone proteins are targets for post translational modification?

A

Lysine residues

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3
Q

How many histones are in each nucleosome core particle?

A

8 histone proteins

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4
Q

What does DNA polymerase require to begin processing?

A

A free 3’-OH

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5
Q

What is miRNA?

A

A biological process in which RNA molecules inhibit gene expression, or translation.

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6
Q

What is the significance of long terminal repeats (LTRs)?

A

Formed by reverse transcription of retroviral RNA. Used by viruses to insert their genetic material into the host genomes.

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7
Q

What are topoisomerase and what is its clinical significance?

A

Breaks phosphodiester bond in DNA to relieve supercoiling created my replication. Drugs that target topoisomerase are used as anti-cancer drugs.

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8
Q

What are nucleoside analogue inhibitors and how do they work?

A

They are nucleoside analogues that lack the 3’-OH. Because of this, they arrest DNA synthesis by acting as chain terminators. Can be used to treat cancers and viral infections.

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9
Q

Describe the effect of UV radiation (non-ionizing radiation) on DNA.

A

Can produce a covalent linkage between two adjacent pyrimidines (T-T or C-T), creating pyrimidine dimers.

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10
Q

Describe the effect of ionizing radiation on DNA.

A

It can lead to double strand breaks, chemical modification of bases, and DNA-protein cross-links.

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11
Q

What are the two main types of spontaneous DNA damage?

A

Depurination and deamination

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12
Q

What are the different types of deamination?

A

Adenine to Hypoxanthine
Guanine to Xanthine
Cytosine to Uracil

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13
Q

Where are CpG Islands found and what is its role in gene expression?

A

They are found in the promotor regions of DNA. Methylation of CpG islands stably silences genes.

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14
Q

What carcinogen is a metabolism product following the consumption of well done meat? What is its pro-carcinogen?

A

Carcinogen: BPDE

Pro-carcinogen: benzo[a]pyrene

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15
Q

What are the different types of chemical agents that can cause DNA damage?

A

Cross-linking agents, alkylating agents, and intercalating agents.

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16
Q

What is Thalidomide?

A

An intercalating agent. Initially used as an anti-anxiety medication, but later found to cause birth defects.

17
Q

What are the symptoms of Xerderma pigmentosum (XP) and what repair pathway is affected by it?

A

UV sensitivity and increased rate of skin cancer. Defect in nucleotide excision repair.

18
Q

What are the symptoms of hereditary nonpolyposis colorectal cancer (HNPCC) and what repair pathway is affected by it?

A

Increased rate of colon cancer. Defect in mismatch excision repair.

19
Q

What are the symptoms of Cockayne syndrome and what repair pathway is affected by it?

A

Neurodegenerative disorder characterized by growth failure, photosensitivity, and premature aging. Defect in transcription coupled nucleotide excision repair.

20
Q

How is HNPCC inherited?

A

In an autosomal dominant manner.

21
Q

A mutation in what enzyme and repair mechanism can cause breast cancer?

A

BRCA2, repair by homologous recombination

22
Q

Describe nucleotide excision repair.

A

Used to repair chemical adducts that distort DNA. NER complex removes stretch of DNA and DNA polymerase fills in the gap. Ligase seals nicks.

23
Q

Describe mismatch excision repair.

A

Used to repair incorrect base in newly synthesized daughter strand. MER complex binds DNA with mismatch and removes region. DNA polymerase fills in the gap. Ligase seals nicks.

24
Q

What is the consequence of non-homologous end joining following a double strand break?

A

One or more nucleotides will be lost in the process

25
Q

What is rifampicin?

A

An antibiotic that inhibits bacterial RNA synthesis. It has a side effect of increasing the metabolism of other drugs.

26
Q

What is the significance of DNA methylation occurring at gene promoter CpG islands?

A

It blocks transcription and can be inherited by daughter cells following cell division.

27
Q

What is the significance of ubiquitin in protein degradation?

A

When bound to a protein, it signals a proteasome to digest the protein into peptides.

28
Q

Describe SUMO-Targeted Ubiquitin Ligases (STUbLs).

A

Contains a RING domain that puts ubiquitin on proteins. Also contains SUMO-interacting Motifs (SIMs) that interact with SUMO.