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p53 - ✔✔Tumor suppressor gene that prevents cells from progressing from
G1 to S phase
- In response to DNA damage, p53 will call in DNA repair enzymes
- If repair not possible, p53 will call in BAX that causes cell apoptosis
Rb - ✔✔Tumor suppressor gene that prevents cells from progressing from
G1 to S phase
- Normally unphosphorylated and binds to E2F
- When phosphorylated by Cyclin-CDK, it releases E2F allowing
progression of cell cycle
What phosphorylates Rb? - ✔✔CDK4/Cyclin D
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, E2F - ✔✔E2F is a transcription factor that binds to the E2F box allowing
transcription of S-phase genes
In order for tumor to occur, how many copies must be mutated for a) p53 b)
Rb - ✔✔a) 2
b) 2
Mutations in Rb - ✔✔- Germline mutation = Bilateral retinoblastoma,
osteosarcoma
- Sporadic mutation = unilateral retinoblastoma
Mutation in p53 - ✔✔Leads to Li-Fraumeni Syndrome
Permanent tissues - ✔✔Always in G0 phase
- Cardiac myocytes, skeletal tissue, neurons, RBCs
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