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WCB 104 - Lechue+tol — Hutcchon Mechanisms Page#_Od- Genome * Diploid. 22 paws ef avtosomes aud 4 paw of Sex chramosomes. * Chromosomes fame SOxIc°—250x10° base pairs . + One set of chromosomes —> 3.3 xi0" base pos +11 1000 base pars elipfer +2 chromosomes of an indin cdwcel most _cnutations howe oo phenchy pre effect + 4) Geroniune egg oF sperm) + Only means of fransmissron aul ceels ac affected 1m OFfspnng. These are de nova mutations 2) Somache : Ocowr 19 non-qerrmline dissve. Inhented Max Genome + Singie base pow sobshthon ——> “75 + small dileon —_—— 5 Irnost come from + Smell ineron ————__—_> 2 other + lawge inverhon of oeishons —~> Vi00 + Chromosome reamran gemests —s 2500 Spontonens Hotations 4) Errors in teplicochon : ONA Pol I 5'3! achvity error rake wl in 10 bases, 2) Tavtomensin of nvbugenous besesz (ner profon shifts). Leads to worong, bate painny. or # bare Paine. 3) Wobble Bare Pauning: Faunng doesnt gollow \Alatson - Croke oie pour roles 4) Deaminatron : C—>0 on dsdnft spontaneosly . 5) \nerhon/ duletron of Single nedluohole. oP to4— Lechorettol— Mutahen Mechanisms Pages! 02. €) UVB tadiahon : Dimengatron of T. (must be adja) 7) Chemical Pguuds + Nitroos awed (HNO) —> Pearminatron © gh HNNG —————> Aluylation tle (metiuy| nitronrosoquanidine) z So ct se panne: AG 00 “So Pyrimidine: CTU 0 8) Transitions : poone Ato a porine j pynmidine A to pyrimidine Twit aS common as). 4) Transversions : penne A to pynimicline aud vie verso. Repar Nechanisns. J) Bios" exonucbeawe arhuly of Polymemee pes ~9T/ of errors. ) ' \___ Proof recxdi 2) Noduohde Cxesion repos: defets in reparr mechanism = PWA 1s damaged Eoieokems pigmetosom ~Podleaye exases lesion (entre region) ~ Gap 1s piled by OWA Pol Tt provayoles, évcayokshawe Greer LeHers) ~ Gap 1s sealed aud nml painngis restored by DIVA ligase. 3) f E = C deamnates to U spontanecesly —> wrong bare pais —DNA glycosylase removes ogee Lichen cag sired —S AP enclonvebeayze aud PNA deoxynbo phosphodi esteate remove Sugar_phosphale (hex z single nuxteohcde. gap) — DNA Pol P+ PNA ligase ede correct baye parr. 4) Mismatch Repaur (temore enfire region acpend mismatch ) = Recognihon of mismnedtoh by MutS = Stabilizahon of compl by MotS~NwtL ~ €ndonveltare cleoweS enor stand NCB 104 —Lechre#tol — Mutolron Mechanisms Paget 03 ~ Unwinding by Wwlicaie aud stalulizahon of SSDNA by S86 protein = Rernoved! of enor strand by Rec J protean, — Resynthesrs by Pol TT oud Ligawe L 5) Non~ Homologous End Joining (WHET) repairs dooble strondd breaks (DSBs) cous , hgh. adil ~ Although -Hors mechanism yepans the break, nyeluchales cre osuully 6) Homologous Recombinadimn

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