p53 Flashcards

1
Q

Li-Fraumeni syndrome

A

One mutated copy of the TP53gene

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2
Q

Where is the TP53 gene located?

A

chromosome 17p13.1

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3
Q

What does overactivity of TP53 cause?

A

Immune hyperactivation and premature ageing

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4
Q

What controls gene production in TP53?

A

2 transactivation domains (TAD1 and TAD 2)

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5
Q

What do genes activated by p53 do?

A

Growth arrest
Repair
Apoptosis
Angiogenesis block

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6
Q

What are transposable elements?

A

New elements added to a genome (from ancient viruses)

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7
Q

What gives p53 such a wide range of functions and binding abilities?

A

Internal promoter

Alternative splicing

Alternative initiation of the translation

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8
Q

How many protein domains does p53 contain?

A

6

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9
Q

How many exomes does p53 have?

A

11

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10
Q

How many proteins can p53 make?

A

12

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10
Q

What do p53 proteins do when they accumulate?

A

Bind to selected gene promoters, recruiting RNA
polymerase transcriptional machinery

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11
Q

What causes p53 conformational changes?

A

Post-translational modifications

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11
Q

Examples of post translational modifications

A

Modifications of serines and threonines (e.g. phosphorylation)

Modifications of lysines and arganines (e.g. methylation, ubiquitylation)

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12
Q

What do post translational modifications regulate?

A

Promoter transcriptional activity

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13
Q

What transfers ubiquitin to p53 to inactivate it?

A

E2

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14
Q

What are some hotspot p53 mutation targets?

A

amino acids in contact with DNA

conformation of p53

specificity and affinity of p53 for its DNA-response element and the RNA-polymerase II transcriptional machinery

15
Q

Mutated p53

A

Can keep some functions

15
Q

How can viruses inactivate p53

A

Inactivating interaction

Ubiquitination-induced protein
degradation

Dysregulated splicing and translation of p53
mRNA (p53 isoforms)

16
Q

BCL2

A

Apoptosis

17
Q

PD1

A

Immune cell death

18
Q

acetylation

A

binding to p53RE