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1、Non-MendelianInheritance1.Familiartypeofnon-Mendelianinheriance非孟徳爾遺傳的常見(jiàn)類型2.Epigenetics表觀遺傳a.Themechanismofepigeneticmod訐ication表觀遺傳修飾的機(jī)帝U?DNAmethylationDNA甲基化?Chromatinremodeling染色質(zhì)重構(gòu)?Modifyinthehistone組蛋白修飾b.Non-codingRNA非編碼RNAc.Genomicimprinting基因組印跡d.Reprogrammi
2、ngofgeneexpression基因表達(dá)的重新編程e.XchromosomeinactivationX染色體失活f.Epigeneticsanddisease表觀遺傳與疾病?Epimutation表觀突變?Cancer癌癥?Aging衰老3.Mitochondrialinheritance線粒體遺傳a.Characteristicsofmitochondrialinheritanee線粒體遺傳特，點(diǎn)b.Commonmitochondrialdiseases常見(jiàn)線粒體疾病MendelianInheritance1.Toaccordingwit
3、hMendel'slaw遵循孟德?tīng)栠z傳規(guī)律?LawofSegregation(The"FirstLaw")分離定律?LawofIndependentAssortment(The"SecondLaw")自由組合定律2.Reciprocalcrossdon'timpactphenotypeofoffspring反交不影響后代表型Non-MendelianInheritanceAnypatternofinheritaneeinwhichtraitsdonotsegregateinaccordancewithMendel'slaws.所有表型分離不遵循
4、孟德?tīng)栠z傳定律的遺傳模式即是非孟德?tīng)栠z傳EpigeneticInheritance表觀遺傳ExtranuclearInheritance核外遺傳(Mitochondrialinheritance,線粒體遺傳)Multifactorialinheritance多因子遺傳Dynamicmutation動(dòng)態(tài)突變^Epigeneticphenomenon"表觀遺傳現(xiàn)象ChangeinphenotypethatisheritablebutdoesnotinvolveDNAmutation.(2004,69thColdSpringHarborSymposi
5、um)發(fā)生可遺傳的表現(xiàn)型改變但不發(fā)生DNA的突變Researchworksofepigenetics關(guān)于表觀遺傳的研究1.Identifythecompositionaldifference(組成差異)oftwodistinctstructuresbetweenthetwophenotypicstates.確定兩種不同表現(xiàn)型之《間的組成差異?DNAMethylationDNA甲基ft.?ChromatinRemodeling染色質(zhì)重構(gòu)1.Maintainedmechanism維持機(jī)制Themechanismofepigeneticmodific
6、ation表觀遺傳修飾的機(jī)制1.LocationofDNAMethylationDNA甲基化的定位?5-mcoccurnearlyexclusivelyatcytosineresidueswithintheCpGdinucleotide.5-甲基胞喀唳幾乎只特異性地出現(xiàn)于CpG二核昔酸的胞喀唳殘基上?CpGislands：CpGdinucleotidesappearinsmallclusters.CpG島：在小簇內(nèi)多次出現(xiàn)的邙G二聯(lián)核甘酸的區(qū)域(這個(gè)是我的理解，中文版的書(shū)上是：結(jié)構(gòu)基因5,端附近富含CpG二聯(lián)核苛酸的區(qū)域稱為邙G島，應(yīng)該是不會(huì)錯(cuò)
7、的)注釋部分：基因調(diào)控元件(如啟動(dòng)子)所含CpG島中的5-mC會(huì)阻礙轉(zhuǎn)錄因子復(fù)合體與DNA的結(jié)合，所以DNA甲基化一般與基因沉默(genesilence)相關(guān)聯(lián)；而非甲基化(non-methylated)一般與基因的活化(geneactivation)相關(guān)聯(lián)。而去甲基化(demethylation)往往與一個(gè)沉默基因的重新激活(reactivation)相關(guān)聯(lián)。NHz(DNMT1AO*'丫DonorSAMHCytosine胞喀吭5-mC5?甲基胞喀味DNMT1,DNAmethytransferaseDNA甲基轉(zhuǎn)移轉(zhuǎn)移酶SAM.S-adenosy
8、lmethionineS-腺奪甲硫氨酸2.MaintenanceofDNAMethylationDNR:DNAreplicaseDNA復(fù)制酶DNA甲基
