《线粒体生物学与医学》课程教学课件（Mitochondria Biology and Medicine）4 Mitochondrial biology and medicine

Mitochondrial biology and medicine-mitochondrialgenetics龙建纲JiangangLongInstituteof MitochondrialBiologyand MedicineSchoolofLifeScienceandTechnology,XJTU

1 Mitochondrial biology and medicine -mitochondrial genetics 龙 建 纲 Jiangang Long Institute of Mitochondrial Biology and Medicine School of Life Science and Technology, XJTU

The Nobel Prize in Physiology or Medicine 2021David Julius and Ardem Patapoutian"fortheir discoveriesof receptors fortemperature and touch

David Julius and Ardem Patapoutian “for their discoveries of receptors for temperature and touch”. The Nobel Prize in Physiology or Medicine 2021

The Nobel Prizein Physiologyor Medicine2021PIEZ01TRPV1PIEZ02TouchTemperatureHeatpainProprioception

The Nobel Prize in Physiology or Medicine 2021

Discoveries of receptors fortemperatureand touch60TemperatureHeatpainTRPV1Closed50TRPM3TRPA1SensoryneuronTRPV140RNATRPM2+30DNAfragments20>43℃OpenTRPM8CapsaicinOCH100lonsCFigure2DavidJuliususedcapsaicinfromchilipepperstoidentifyTRPV1,anionchannelactivatedbypainfulheat.Additionalrelatedionchannelswereidentifiedandwenowunderstandhowdifferenttemperaturescaninduceelectricalsignalsinthenervous system

Discoveries of receptors for temperature and touch Figure 2 David Julius used capsaicin from chili peppers to identify TRPV1, an ion channel activated by painful heat. Additional related ion channels were identified and we now understand how different temperatures can induce electrical signals in the nervous system

DiscoveriesofreceptorsfortemperatureandtouchGene silencingGene silencingMeasureMechanical forceMechanical forceMeasurCellCellCandidate gene 1-71Candidate gene 72TouchPIEZ01ProprioceptionClosedPIEZ02Mechanical forceOpenlonsFigure3Patapoutianusedculturedmechanosensitivecellstoidentifyanionchannelactivatedbymechanicalforce.Afterpainstakingwork,Piezo1wasidentified.BasedonitssimilaritytoPiezo1,asecondionchannelwasfound(Piezo2)

Figure 3 Patapoutian used cultured mechanosensitive cells to identify an ion channel activated by mechanical force. After painstaking work, Piezo1 was identified. Based on its similarity to Piezo1, a second ion channel was found (Piezo2). Discoveries of receptors for temperature and touch

The2022NobelPrizeinPhysiologyorMedicineis awardedtoSvantePaaboforhisdiscoveriesconcerningthegenomesofextincthomininsandhumanevolution获得者：瑞典遗传学家斯万特·帕博2022Swedishgeneticist--SvantePaabo

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获奖者简介SvantePaabo一1955年出生于斯德哥尔摩德国马克普朗克研究所进化人类学研究中心主任瑞典皇家学会成员，英国皇家学会外籍成员，是古遗传学领域的开创者之一。BorninStockholmin1955.DirectoroftheResearchCenterforEvolutionaryAnthropologyattheMarkPlanckInstituteinGermany,memberoftheRoyal SwedishSociety,andforeignmemberoftheRoyalBritishSociety.Isone of thepioneers inthefieldofpaleogenetics

Svante Pääbo——1955年出生于斯德哥尔摩。 德国马克普朗克研究所进化人类学研究中心主任， 瑞典皇家学会成员，英国皇家学会外籍成员，是 古遗传学领域的开创者之一。 Born in Stockholm in 1955. Director of the Research Center for Evolutionary Anthropology at the Mark Planck Institute in Germany, member of the Royal Swedish Society, and foreign member of the Royal British Society. Is one of the pioneers in the field of paleogenetics. 获奖者简介

古遗传学与线粒体？Paleogeneticsand Mitochondria?AncientDNAChemicalmodificationsFragmentationContaminationMutationsNuclearDNAMitochondrialDNA3,000.000.000basepairs16.500basepairsMtDNA and any other non nuclear DNA contain muchgenetic information, some ofwhichcanshowindividualgeneticdifferences.Soitcanbeusedtoobtaininformationrelatedto immunityanddiseases

8 古遗传学与线粒体？ Paleogenetics and Mitochondria? MtDNA and any other non nuclear DNA contain much genetic information, some of which can show individual genetic differences. So it can be used to obtain information related to immunity and diseases

Mitochondrial geneticsMitochondrial genomeHuman MtDNAMtDNA genetics-Maternaltransmission-Heterogeneity- High rate of mutationMtDNAdiseases9

Mitochondrial genetics • Mitochondrial genome • Human MtDNA • MtDNA genetics – Maternal transmission – Heterogeneity – High rate of mutation • MtDNA diseases 9

Mitochondrial genome（线粒体基因组)ANIMALCELLPLANTCELLthin sectionofgeneralizedthinsectionof generalizedanimal cellcellfromhigherplantmitochondriachloroplastplasmamembraneendoplasmiccentriolereticulumcytosolGolgiapparatusfilamentouscytoskeletonvacuole-nucleuslysosomescell wallperoxisomes10-30um10-100um

Mitochondrial genome（线粒体基因组） • Mitochondrial is an important subcellular organ of cell.（线粒体 是真核细胞中的一种重要的细胞器） • Mammalian mitochondrial genomes are the smallest, those of fruit flies and frogs are slightly larger, those of yeast are larger, and those of plants are the largest.（哺乳动物的线粒体基因组最小， 果蝇和蛙的稍大，酵母的更大，而植物的线粒体基因组最大） • The complete sequence of human, mouse and cow mitochondrial genomes has been determined to be around 16.5 KB.（人、小鼠和牛的线粒体基因组全序列已经测定，都是16.5 kb左 右） 10