Errori di Replicazione

Presentazione sul tema: "Errori di Replicazione"— Transcript della presentazione:

1

2 Errori di Replicazione

3 Figure 5-20a Molecular Biology of the Cell (© Garland Science 2008)

4 Figure 5-20b Molecular Biology of the Cell (© Garland Science 2008)

5 DNA damage depurinazione

6 Figure 5-45 Molecular Biology of the Cell (© Garland Science 2008)

7 Figure 5-47 Molecular Biology of the Cell (© Garland Science 2008)

8 Figure 5-48a Molecular Biology of the Cell (© Garland Science 2008)

9 Figure 5-46 Molecular Biology of the Cell (© Garland Science 2008)

10 Figure 5-48b Molecular Biology of the Cell (© Garland Science 2008)

11 NUCLEOTIDE EXCISION REPAIR (NER)
IN EUKARYOTES

12 DNA repair defects and human diseases
MALATTIA FENOTIPO Difetto Genetico e Meccanismo Cancro ereditario Carcinoma del colon (non poliposico) MSH2 Riparo di mismatch Xeroderma pigmentoso Cancro della pelle XP A-G Riparo per escissione Atassia teleangectasia Leucemie, linfomi ATM kinasi Riparo di dsb per Ricombinazione Cancro della mammella/ovaio BRCA-2 Riparo per ricombinazione Anemia di Fanconi Leucemie, anomalie congenite Riparo di legami crociati

13 Figure 5-51 Molecular Biology of the Cell (© Garland Science 2008)

14 NON-HOMOLOGOUS END JOINING (NHEJ)
Figure 5-52a Molecular Biology of the Cell (© Garland Science 2008)

15 NON-HOMOLOGOUS END JOINING (NHEJ)

16 HOMOLOGOUS RECOMBINATION IN MEIOSIS
Figure 5-64 (part 1 of 2) Molecular Biology of the Cell (© Garland Science 2008)

17 HOMOLOGOUS RECOMBINATION IN MEIOSIS
Figure 5-64 (part 2 of 2) Molecular Biology of the Cell (© Garland Science 2008)

18 HOMOLOGOUS RECOMBINATION OF STALLED REPLICATION FORKS
Figure 5-53 (part 1 of 2) Molecular Biology of the Cell (© Garland Science 2008)

19 Figure 5-53 (part 2 of 2) Molecular Biology of the Cell (© Garland Science 2008)

20 HOMOLOGOUS RECOMBINATION OF DOUBLE-STRAND BREAKS
Figure 5-59 (part 1 of 2) Molecular Biology of the Cell (© Garland Science 2008)

21 Figure 5-59 (part 2 of 2) Molecular Biology of the Cell (© Garland Science 2008)

22 Figure 5-54 Molecular Biology of the Cell (© Garland Science 2008)

23 Strand Invasion RecA/RAD51
Figure Molecular Biology of the Cell (© Garland Science 2008)

24 HOLLIDAY JUNCTIONS Figure Molecular Biology of the Cell (© Garland Science 2008)

25 JUNCTION MIGRATION: Ruv A/B PROTEINS

26 Sensori del Danno al DNA e Malattie Genetiche
DNA glicosilasi (Escissione di basi-BER) RPA-XPA-XPC (Global Genome Repair via Escissione di nucleotidi-NER) Sensori diretti Xeroderma pigmentosum (gr.A e gr.C) ATM-ATR-Ku70/80 Rotture a doppio filamento del DNA (Riparo per ricombinazione) Ataxia-telangectasia RNA polimerasi II/TFIIH (Transcription-Coupled Repair via Escissione di nucleotidi-NER) Sensori indiretti

27 Effettori/Mediatori del Riparo e Malattie Genetiche
Escissione di nucleotidi-NER XPB-XPD (subunità di TFIIH) XPF-XPG (nucleasi) XPE? Xeroderma pigmentosum (gr.B, D, F, G) Riparo per ricombinazione BRCA-2 Forme genetiche di cancro della mammella

28 MEIOSIS Figure Molecular Biology of the Cell (© Garland Science 2008)

29 JUNCTION RESOLUTION: Ruv C