Lecture 11 Flashcards

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0
Q

What are the principle lesions that lead to chromosomal aberrations?

A

Double strand breaks

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1
Q

Where are sister chromatids held together?

A

Centromere

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2
Q

What effector do DSBs activate that then guide the cell towards either senescence or apoptosis?

A

p53

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3
Q

What is nondisjunction?

A

When members of a chromosome pair fail to separate during anaphase of meiosis

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4
Q

What does nondisjunction result in?

A

Gametes with an incorrect number of chromosomes

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5
Q

What is chromothripsis?

A

Shattering of the chromosome into thousands of pieces

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6
Q

What causes chromothripsis?

A

Massive double strand breaks, followed by rearrangements, reassembly, and fusion

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7
Q

Chromothripsis is commonly associated with what two disorders?

A

Fanconi anaemia and colorectal cancer

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8
Q

What is a pericentric inversion?

A

A single chromosome with two breaks swaps the location of its two fragments

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9
Q

What is a paracentric aberration?

A

Both points of exchange lie on same side of centromere

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10
Q

What are interchanges?

A

Exchange of two sister chromatids between separate chromosomes

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11
Q

What is the Philadelphia Chromosome?

A

Mutated chromosome due to translocation between chromosomes 9 and 22

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12
Q

What condition does the Philadelphia Chromosome cause?

A

Chronic myelogenous leukemia (CML)

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13
Q

What chromosome aberration causes Burkitt Lymphoma?

A

Translocation between chromosomes 8 and 14

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14
Q

What does the translocation between chromosomes 8 and 14 cause?

A

Translocation of MYC oncogene from chromosome 8 to the heavily expressed heavy chain IG gene region of chromosome 14

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15
Q

What are epigenetics?

A

Heritable non-genetic modifications

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16
Q

What are CpG islands?

A

Repeats of C and G where methylation control occurs

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17
Q

Relative to the gene, where are CpG islands typically found?

A

Close to the start of the promoter

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18
Q

What does methylation of the promoter do?

A

Prevents binding of transcription factors, thus inhibiting gene expression

19
Q

Is epigenetic methylation inheritable?

A

Yes

20
Q

In cancers, what genes are methylated?

A

Tumor suppressor genes

21
Q

In cancers, what genes are unmethylated?

A

Oncogenes

22
Q

What is a nucleosome?

A

DNA wrapped around a core of 8 histone proteins

23
Q

What protein locks the DNA around the histone complex?

A

Linker histone H1

24
Q

What is the epigenetic site of histone proteins?

A

N-terminal tails

25
Q

What are four types of histone modification?

A

Acetylation, methylation, phosphorylation, and ubiquitination

26
Q

What is heterochromatin?

A

Compact DNA clustered near nucleolus and nuclear membrane

27
Q

What is euchromatin?

A

Dispersed DNA that occupies most of the nuclear region

28
Q

In what kind of chromatin is transcription “on?”

A

Euchromatin

29
Q

What histone modification promotes transcription?

A

Acetylation

30
Q

What histone modification inhibits transcription?

A

Methylation

31
Q

What class of enzymes methylates DNA?

A

DNA methyltransferases

32
Q

How many DNA methyltransferases do humans have?

A

3

33
Q

Which is the “maintenance” methyltransferase responsible for copying methylation patterns during replication?

A

DNMT1 (methyltransferase 1)

34
Q

Ubiquitination is a form of ____

A

Post-translational modification

35
Q

Ubiquitin is found covalently bound to what amino acid residue?

A

Lysine

36
Q

What does ubiquitin regulate?

A

Protein degradation, cellular location, endocytic trafficking, histones

37
Q

What is the function of histone ubiquitin ligases (HULs)?

A

Add ubiquitin to histone complexes

38
Q

What notable oncogene is a part of the HUL?

A

BRCA1

39
Q

Loss of BRCA1 leads to a loss of what?

A

Histone ubiquitination

40
Q

What 2 conditions are caused by mutations in DNA sensing and signaling?

A

Fanconi anemia (FA) and ataxia-telangiectasia (AT)

41
Q

What 1 condition is caused by mutations in DNA topology?

A

Bloom syndrome (BS)

42
Q

What 4 conditions are caused by mutations in DNA repair?

A

Xeroderma pigmentosum (XP), Cockayne syndrome (CS), Trichothiodystrophy (TTD), and hereditary non-polyposis colon cancer (HNPCC/Lynch’s Syndrome)

43
Q

What do HDAC inhibitors do?

A

Inhibit HDAC activity, increasing histone acetylation and gene transcription

44
Q

What do DNMT inhibitors do?

A

Block activity of DNMTs, decreasing histone methylation, increasing gene transcription