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07. Alteraes do DNA
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Mutaes no DNA
Mutaes espontneas - replicaoMutaes induzidas: fsicas agentes que modificam as bases
qumicas UV, X-ray
Repao constante do DNA e essencial para a sobrevivncia
Sobrevivncia da clula sobrevivncia da espcie
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NAME PHENOTYPE ENZYME OR PROCESS AFFECTEDMSH2, 3, 6, MLH1, PMS2 colon cancer mismatch repair
Xeroderma pigmentosum (XP) groups AG skin cancer, cellular UV sensitivity, neurological abnormalities nucleotide excision-repairXP variant cellular UV sensitivity translesion synthesis by DNA polymerase
Ataxiatelangiectasia (AT) leukemia, lymphoma, cellular-ray sensitivity, genome instability ATM protein, a protein kinase activated by
double-strand breaks
BRCA-2 breast and ovarian cancer repair by homologous recombinationWerner syndrome premature aging, cancer at several sites, genome instability accessory 3-exonuclease and DNA helicase
Bloom syndrome cancer at several sites, stunted growth, genome instability accessory DNA helicase for replicationFanconi anemia groups AG congenital abnormalities, leukemia, genome instability DNA interstrand cross-link repair
46 BR patient hypersensitivity to DNA-damaging agents, genome instability DNA ligase I
Doenas genticas humanas associadas a reparao do DNA
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5000 bases loss every day from each cell due to spontaneous depurination
100 bases modified each day per cell by deamination to become uracil
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UV dimers
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Action of chemical on the DNA molecule
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Replication error
105 107 109
DNA polymerase Proofreading Mistmatch repear system
Fidelity of DNA replication
MRS: 1. Detects the error2. Determine which base is incorrect
3. Excise incorrect base and repair DNA
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Fixao das mutaes aps a replicao
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Fixao das mutaes aps a replicao
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Alteraes estruturais dos cromossomas: delees, inverses, traslocaes
Mutaes pontuais
- Transio troca de pir/pir ou pur/pur
- Transverso troca de pir/pur ou pur/pir
Mutaes absurdas (Nonsense)
- mutao pontual que resulta numa codo STOP
Mutaes sem sentido (missense)
- mutao pontual que altera o amino cido codificado pelo codo
Mutao silenciosa
-mutao pontual que no altera o amino cido codificado pelo codomas altera a sequencia do DNA
Mutao neutra
-mutao pontual que altera o amino cido codificado pelo codo
mas no afecta a funo da protena
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Frameshift mutations
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Uracil DNA glicosilase
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Glycosilases: flipping out the base
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2-alquilao
Cys-O6-Methylguanine (stoichiometric)
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Photolyase Prokaryotes + Eukaryotes
Very old enzyme (Bacteria to human)DNA binding domain CRY (human)
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Mistmatch DNA repair in Bacteria
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Repair by homologousrecombination
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Non-Homologous end joining
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Translesion DNA Repair
Polymerase swicth in order tocomplete DNA replication
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