Genetics: from Mendel to Venter Introduction

Subject:Molecular genetics Period:1 semester Lectures/practical courses:2 lectures per week 2 seminars/practical courses per week Midterm tests: 3 self-control tests offered on the 5th, 10th and 14th week Exam:written exam: end of the semester. + Bonus points: the bonus percentage based on the average result of the three mid-semester tests. Absence counts as 0%. + bonus points from 4 homeworks AttendanceLectures not obligatory, Practical courses, seminars obligatory Tanulmányi felelős: Krisztina Szentesiné Szirák Office hours: Monday, 10:30 – 12:30 (Dept. of Human Genetics,LSB 2nd floor, 4th annex, room

Please, set an address in the Neptun to make the contact easier.

homepage: username: mbmsc (?) password: polimorphism (?)

For the signature in your lecture book: attend the classes (labs and seminars counted together) SIGN THE ATTENDANCE LIST –more than two absences: lab test (test from the material of labs and seminars) –more than four absences: no signature write at least two of the self-control tests

Midterm tests 3 self-control tests offered on the 5th, 10th and 14th weeks the following table shows the bonus percentage based on the average result of the three mid-semester tests. Absence counts as 0%. Exam: Bonuses are added as % to your result Average of the 3 tests (%) Bonus (%)

On week 11 – 15 practicals in the Theoretical Building, high floor, students’ lab of the Dept. of Biochemistry (no seminars)

Lab safety rules for students I. Report all accidents, injuries, and breakage of glass or equipment to instructor immediately. Keep pathways clear by placing extra items (books, bags, etc.) into the cupboards outside or under the work tables. If under the tables, make sure that these items can not be stepped on. Long hair (chin-length or longer) must be tied back to avoid catching fire. Wear sensible clothing including footwear. Loose clothing should be secured so they do not get caught in a flame or chemicals. Work quietly — know what you are doing by reading the assigned experiment before you start to work. Pay close attention to any cautions described in the laboratory exercises Do not taste or smell chemicals.

Lab safety rules for students II. Never point a test tube being heated or mixed at another student or yourself. Never look into a test tube while you are heating it or mixing its content. Unauthorized experiments or procedures must not be attempted. Do not leave water taps running unattended. Keep solids out of the sink. Leave your work station clean and in good order before leaving the laboratory. Disposal of chemicals - ask the Lecturer or the Technician. Waste material should be placed in the bins provided Do not lean, hang over or sit on the laboratory tables. Do not leave the laboratory without permission of the teacher. Handle mice with care according to the instruction of your teacher.

Lab safety rules for students III. Handle microorganisms with care, according to instructions. After working with microorganisms wash/disinfect your hands. Fooling around or "horse play" in the laboratory is absolutely forbidden. Anyone wearing acrylic nails will not be allowed to work with matches, lighted splints, bunsen burners, etc. Do not lift any solutions, glassware or other types of apparatus above eye level. Follow all instructions given by your teacher. Learn how to transport all materials and equipment safely. It is expressly forbidden to remove any chemicals or solvents from the lab. No eating or drinking in the lab at any time!

Lab safety rules for students IV. Learn the location of the fire extinguisher, eye wash station, and first aid kit. If skin is contaminated –with acid: wipe off with dry (paper) towel, flush with tap water and cold 2% NaHCO 3 solution –with base: flush with tap water and 0,5% acetic acid If eyes are contaminated –with acid: rinse with tap water and 2% Na-tetraborate (borax) solution –with base: rinse with tap water and 2% boric acid solution If swallowed: rinse your mouth with water and drink water Visit doctor

GENETICS Classical (Mendelian, transmission) genetics Molecular genetics (genes, geneexpression, regulation, geneproducts) „Forward and reverse genetics” Population genetics (genetikai variábilitás a populáiók szintjén; molekuláris jegyek is) Genomics, proteomics, bioinformatic science

Original DNARNAProteinCentral dogma Modified DNA RNA Protein Reverse transcriptase New concept GenomTranscriptomeProteome

Milestones in genetics 1865 Gregor MendelThe rules of inheritance 1869 Friedrich MichelDiscovery of nucleic acids 1900 de Vrie & TchermakRediscovery of Mendel’s principles 1902 Archibald GarrodFirst genetic disease noted (alkaptonuria) 1902 Walter StuttonProposal of chromosomal theory 1908 Hardy & WeinberdHardy-Weinberg principle formulated 1910 Thomas MorganGenes are on chromosomes 1929 GriffithPneumococcus transformation 1941 Tatum & BeadleOne gene- one enzyme hypothesis 1944 Avery, McLeod & McCartyDNA is the genetic material 1953 Watson, Crick, Franklin & WilkinsStructure of DNA 1958 Meselson & StahlSemiconservative replication of DNA 1961 Sidney BrennerDiscovery of mRNA 1966 Nierenberg & KhoranaCompletion of the genetic code 1973 Boyer & CohenFirst use of plasmid to clone DNA 1995 Fleischmann et al.Sequence of the first genome 1997 Ian WilmutFirst mammalian cloning 2001 Venter et al.Sequencing of the human genome

The Monk in the Garden: The Lost and Found Genius of Gregor Mendel, the Father of Genetics

Mendel, Versuche über Pflanzenhybriden (Experiments in plant hybridyzation) quantiative analysis

Milestones in genetics 1865 Gregor MendelThe rules of inheritance 1869 Friedrich MichelDiscovery of nucleic acids 1900 de Vrie & TchermakRediscovery of Mendel’s principles 1902 Archibald GarrodFirst genetic disease noted (alkaptonuria) 1902 Walter StuttonProposal of chromosomal theory 1908 Hardy & WeinberdHardy-Weinberg principle formulated 1910 Thomas MorganGenes are on chromosomes 1929 GriffithPneumococcus transformation 1941 Tatum & BeadleOne gene- one enzyme hypothesis 1944 Avery, McLeod & McCartyDNA is the genetic material 1953 Watson, Crick, Franklin & WilkinsStructure of DNA 1958 Meselson & StahlSemiconservative replication of DNA 1961 Sidney BrennerDiscovery of mRNA 1966 Nierenberg & KhoranaCompletion of the genetic code 1973 Boyer & CohenFirst use of plasmid to clone DNA 1995 Fleischmann et al.Sequence of the first genome 1997 Ian WilmutFirst mammalian cloning 2001 Venter et al.Sequencing of the human genome

Bacterial transformation What is the „transforming principle”?

Alfred Hershey and Martha Chase, 1952

Milestones in genetics 1865 Gregor MendelThe rules of inheritance 1869 Friedrich MichelDiscovery of nucleic acids 1900 de Vrie & TchermakRediscovery of Mendel’s principles 1902 Archibald GarrodFirst genetic disease noted 1902 Walter StuttonProposal of chromosomal theory 1908 Hardy & WeinberdHardy-Weinberg principle formulated 1910 Thomas MorganGenes are on chromosomes 1929 GriffithPneumococcus transformation 1941 Tatum & BeadleOne gene- one enzyme hypothesis 1944 Avery, McLeod & McCartyDNA is the genetic material 1953 Watson, Crick, Franklin & WilkinsStructure of DNA 1958 Meselson & StahlSemiconservative replication of DNA 1961 Sidney BrennerDiscovery of mRNA 1966 Nierenberg & KhoranaCompletion of the genetic code 1973 Boyer & CohenFirst use of plasmid to clone DNA 1995 Fleischmann et al.Sequence of the first genome 1997 Ian WilmutFirst mammalian cloning 2001 Venter et al.Sequencing of the human genome

Watson Crick in 1953

… and 50 years later

Milestones in genetics 1865 Gregor MendelThe rules of inheritance 1869 Friedrich MichelDiscovery of nucleic acids 1900 de Vrie & TchermakRediscovery of Mendel’s principles 1902 Archibald GarrodFirst genetic disease noted 1902 Walter StuttonProposal of chromosomal theory 1908 Hardy & WeinberdHardy-Weinberg principle formulated 1910 Thomas MorganGenes are on chromosomes 1929 GriffithPneumococcus transformation 1941 Tatum & BeadleOne gene- one enzyme hypothesis 1944 Avery, McLeod & McCartyDNA is the genetic material 1953 Watson, Crick, Franklin & WilkinsStructure of DNA 1958 Meselson & StahlSemiconservative replication of DNA 1961 Sidney BrennerDiscovery of mRNA 1966 Nierenberg & KhoranaCompletion of the genetic code 1973 Boyer & CohenFirst use of plasmid to clone DNA 1995 Fleischmann et al.Sequence of the first genome 1997 Ian WilmutFirst mammalian cloning 2001 Venter et al.Sequencing of the human genome

Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA, Gocayne JD, Amanatides P, Ballew RM, Huson DH, Wortman JR, Zhang Q, Kodira CD, Zheng XH, Chen L, Skupski M, Subramanian G, Thomas PD, Zhang J, Gabor Miklos GL, Nelson C, Broder S, Clark AG, Nadeau J, McKusick VA, Zinder N, Levine AJ, Roberts RJ, Simon M, Slayman C, Hunkapiller M, Bolanos R, Delcher A, Dew I, Fasulo D, Flanigan M, Florea L, Halpern A, Hannenhalli S, Kravitz S, Levy S, Mobarry C, Reinert K, Remington K, Abu-Threideh J, Beasley E, Biddick K, Bonazzi V, Brandon R, Cargill M, Chandramouliswaran I, Charlab R, Chaturvedi K, Deng Z, Di Francesco V, Dunn P, Eilbeck K, Evangelista C, Gabrielian AE, Gan W, Ge W, Gong F, Gu Z, Guan P, Heiman TJ, Higgins ME, Ji RR, Ke Z, Ketchum KA, Lai Z, Lei Y, Li Z, Li J, Liang Y, Lin X, Lu F, Merkulov GV, Milshina N, Moore HM, Naik AK, Narayan VA, Neelam B, Nusskern D, Rusch DB, Salzberg S, Shao W, Shue B, Sun J, Wang Z, Wang A, Wang X, Wang J, Wei M, Wides R, Xiao C, Yan C, Yao A, Ye J, Zhan M, Zhang W, Zhang H, Zhao Q, Zheng L, Zhong F, Zhong W, Zhu S, Zhao S, Gilbert D, Baumhueter S, Spier G, Carter C, Cravchik A, Woodage T, Ali F, An H, Awe A, Baldwin D, Baden H, Barnstead M, Barrow I, Beeson K, Busam D, Carver A, Center A, Cheng ML, Curry L, Danaher S, Davenport L, Desilets R, Dietz S, Dodson K, Doup L, Ferriera S, Garg N, Gluecksmann A, Hart B, Haynes J, Haynes C, Heiner C, Hladun S, Hostin D, Houck J, Howland T, Ibegwam C, Johnson J, Kalush F, Kline L, Koduru S, Love A, Mann F, May D, McCawley S, McIntosh T, McMullen I, Moy M, Moy L, Murphy B, Nelson K, Pfannkoch C, Pratts E, Puri V, Qureshi H, Reardon M, Rodriguez R, Rogers YH, Romblad D, Ruhfel B, Scott R, Sitter C, Smallwood M, Stewart E, Strong R, Suh E, Thomas R, Tint NN, Tse S, Vech C, Wang G, Wetter J, Williams S, Williams M, Windsor S, Winn-Deen E, Wolfe K, Zaveri J, Zaveri K, Abril JF, Guigo R, Campbell MJ, Sjolander KV, Karlak B, Kejariwal A, Mi H, Lazareva B, Hatton T, Narechania A, Diemer K, Muruganujan A, Guo N, Sato S, Bafna V, Istrail S, Lippert R, Schwartz R, Walenz B, Yooseph S, Allen D, Basu A, Baxendale J, Blick L, Caminha M, Carnes-Stine J, Caulk P, Chiang YH, Coyne M, Dahlke C, Mays A, Dombroski M, Donnelly M, Ely D, Esparham S, Fosler C, Gire H, Glanowski S, Glasser K, Glodek A, Gorokhov M, Graham K, Gropman B, Harris M, Heil J, Henderson S, Hoover J, Jennings D, Jordan C, Jordan J, Kasha J, Kagan L, Kraft C, Levitsky A, Lewis M, Liu X, Lopez J, Ma D, Majoros W, McDaniel J, Murphy S, Newman M, Nguyen T, Nguyen N, Nodell M, Pan S, Peck J, Peterson M, Rowe W, Sanders R, Scott J, Simpson M, Smith T, Sprague A, Stockwell T, Turner R, Venter E, Wang M, Wen M, Wu D, Wu M, Xia A, Zandieh A, Zhu Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA, Gocayne JD, Amanatides P, Ballew RM, Huson DH, Wortman JR, Zhang Q, Kodira CD, Zheng XH, Chen L, Skupski M, Subramanian G, Thomas PD, Zhang J, Gabor Miklos GL, Nelson C, Broder S, Clark AG, Nadeau J, McKusick VA, Zinder N, Levine AJ, Roberts RJ, Simon M, Slayman C, Hunkapiller M, Bolanos R, Delcher A, Dew I, Fasulo D, Flanigan M, Florea L, Halpern A, Hannenhalli S, Kravitz S, Levy S, Mobarry C, Reinert K, Remington K, Abu-Threideh J, Beasley E, Biddick K, Bonazzi V, Brandon R, Cargill M, Chandramouliswaran I, Charlab R, Chaturvedi K, Deng Z, Di Francesco V, Dunn P, Eilbeck K, Evangelista C, Gabrielian AE, Gan W, Ge W, Gong F, Gu Z, Guan P, Heiman TJ, Higgins ME, Ji RR, Ke Z, Ketchum KA, Lai Z, Lei Y, Li Z, Li J, Liang Y, Lin X, Lu F, Merkulov GV, Milshina N, Moore HM, Naik AK, Narayan VA, Neelam B, Nusskern D, Rusch DB, Salzberg S, Shao W, Shue B, Sun J, Wang Z, Wang A, Wang X, Wang J, Wei M, Wides R, Xiao C, Yan C, Yao A, Ye J, Zhan M, Zhang W, Zhang H, Zhao Q, Zheng L, Zhong F, Zhong W, Zhu S, Zhao S, Gilbert D, Baumhueter S, Spier G, Carter C, Cravchik A, Woodage T, Ali F, An H, Awe A, Baldwin D, Baden H, Barnstead M, Barrow I, Beeson K, Busam D, Carver A, Center A, Cheng ML, Curry L, Danaher S, Davenport L, Desilets R, Dietz S, Dodson K, Doup L, Ferriera S, Garg N, Gluecksmann A, Hart B, Haynes J, Haynes C, Heiner C, Hladun S, Hostin D, Houck J, Howland T, Ibegwam C, Johnson J, Kalush F, Kline L, Koduru S, Love A, Mann F, May D, McCawley S, McIntosh T, McMullen I, Moy M, Moy L, Murphy B, Nelson K, Pfannkoch C, Pratts E, Puri V, Qureshi H, Reardon M, Rodriguez R, Rogers YH, Romblad D, Ruhfel B, Scott R, Sitter C, Smallwood M, Stewart E, Strong R, Suh E, Thomas R, Tint NN, Tse S, Vech C, Wang G, Wetter J, Williams S, Williams M, Windsor S, Winn-Deen E, Wolfe K, Zaveri J, Zaveri K, Abril JF, Guigo R, Campbell MJ, Sjolander KV, Karlak B, Kejariwal A, Mi H, Lazareva B, Hatton T, Narechania A, Diemer K, Muruganujan A, Guo N, Sato S, Bafna V, Istrail S, Lippert R, Schwartz R, Walenz B, Yooseph S, Allen D, Basu A, Baxendale J, Blick L, Caminha M, Carnes-Stine J, Caulk P, Chiang YH, Coyne M, Dahlke C, Mays A, Dombroski M, Donnelly M, Ely D, Esparham S, Fosler C, Gire H, Glanowski S, Glasser K, Glodek A, Gorokhov M, Graham K, Gropman B, Harris M, Heil J, Henderson S, Hoover J, Jennings D, Jordan C, Jordan J, Kasha J, Kagan L, Kraft C, Levitsky A, Lewis M, Liu X, Lopez J, Ma D, Majoros W, McDaniel J, Murphy S, Newman M, Nguyen T, Nguyen N, Nodell M, Pan S, Peck J, Peterson M, Rowe W, Sanders R, Scott J, Simpson M, Smith T, Sprague A, Stockwell T, Turner R, Venter E, Wang M, Wen M, Wu D, Wu M, Xia A, Zandieh A, Zhu X The sequence of the human genome. Science Feb 16;291(5507): Erratum in: Science 2001 Jun 5;292(5523):1838.

Presentation of „Debrecen Award for Molecular Medicine” to Craig Venter the father of Genomics

The newest directions Roles of many different RNA molecules in genetics Minimal genom First synthetic organism