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
Attendance
Lectures 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, 2.408. room
Please, set an e-mail address in the Neptun to make the contact easier.
Please, set an e-mail address in the Neptun to make the contact easier.
• homepage: http://www.genetics.dote.hu
• 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 (%)
0
49.99
0
•
50.00 53.99
3
•
54.00 57.99
4
•
58.00 61.99
5
•
62.00 65.99
6
•
66.00 69.99
7
•
70.00 73.99
8
•
74.00 77.99
9
•
78.00 81.99
10
•
82.00 85.99
11
•
86.00 100
12
•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% NaHCO3 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
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
DNA
RNA
Protein
RNA
Protein
Central dogma
Modified
DNA
Reverse transcriptase
New concept
Genom
Transcriptome
Proteome
Milestones in genetics
1865 Gregor Mendel
The rules of inheritance
1869 Friedrich Michel
Discovery of nucleic acids
1900 de Vrie & Tchermak
Rediscovery of Mendel’s principles
1902 Archibald Garrod
First genetic disease noted (alkaptonuria)
1902 Walter Stutton
Proposal of chromosomal theory
1908 Hardy & Weinberd
Hardy-Weinberg principle formulated
1910 Thomas Morgan
Genes are on chromosomes
1929 Griffith
Pneumococcus transformation
1941 Tatum & Beadle
One gene- one enzyme hypothesis
1944 Avery, McLeod & McCarty
DNA is the genetic material
1953 Watson, Crick, Franklin & Wilkins Structure of DNA
1958 Meselson & Stahl
Semiconservative replication of DNA
1961 Sidney Brenner
Discovery of mRNA
1966 Nierenberg & Khorana
Completion of the genetic code
1973 Boyer & Cohen
First use of plasmid to clone DNA
1995 Fleischmann et al.
Sequence of the first genome
1997 Ian Wilmut
First 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, 1865. Versuche über Pflanzenhybriden
(Experiments in plant hybridyzation)
quantiative analysis
Milestones in genetics
1865 Gregor Mendel
The rules of inheritance
1869 Friedrich Michel
Discovery of nucleic acids
1900 de Vrie & Tchermak
Rediscovery of Mendel’s principles
1902 Archibald Garrod
First genetic disease noted (alkaptonuria)
1902 Walter Stutton
Proposal of chromosomal theory
1908 Hardy & Weinberd
Hardy-Weinberg principle formulated
1910 Thomas Morgan
Genes are on chromosomes
1929 Griffith
Pneumococcus transformation
1941 Tatum & Beadle
One gene- one enzyme hypothesis
1944 Avery, McLeod & McCarty
DNA is the genetic material
1953 Watson, Crick, Franklin & Wilkins Structure of DNA
1958 Meselson & Stahl
Semiconservative replication of DNA
1961 Sidney Brenner
Discovery of mRNA
1966 Nierenberg & Khorana
Completion of the genetic code
1973 Boyer & Cohen
First use of plasmid to clone DNA
1995 Fleischmann et al.
Sequence of the first genome
1997 Ian Wilmut
First 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 Mendel
The rules of inheritance
1869 Friedrich Michel
Discovery of nucleic acids
1900 de Vrie & Tchermak
Rediscovery of Mendel’s principles
1902 Archibald Garrod
First genetic disease noted
1902 Walter Stutton
Proposal of chromosomal theory
1908 Hardy & Weinberd
Hardy-Weinberg principle formulated
1910 Thomas Morgan
Genes are on chromosomes
1929 Griffith
Pneumococcus transformation
1941 Tatum & Beadle
One gene- one enzyme hypothesis
1944 Avery, McLeod & McCarty
DNA is the genetic material
1953 Watson, Crick, Franklin & Wilkins
Structure of DNA
1958 Meselson & Stahl
Semiconservative replication of DNA
1961 Sidney Brenner
Discovery of mRNA
1966 Nierenberg & Khorana
Completion of the genetic code
1973 Boyer & Cohen
First use of plasmid to clone DNA
1995 Fleischmann et al.
Sequence of the first genome
1997 Ian Wilmut
First mammalian cloning
2001 Venter et al.
Sequencing of the human genome
Crick
Watson
in 1953
… and 50 years later
Milestones in genetics
1865 Gregor Mendel
The rules of inheritance
1869 Friedrich Michel
Discovery of nucleic acids
1900 de Vrie & Tchermak
Rediscovery of Mendel’s principles
1902 Archibald Garrod
First genetic disease noted
1902 Walter Stutton
Proposal of chromosomal theory
1908 Hardy & Weinberd
Hardy-Weinberg principle formulated
1910 Thomas Morgan
Genes are on chromosomes
1929 Griffith
Pneumococcus transformation
1941 Tatum & Beadle
One gene- one enzyme hypothesis
1944 Avery, McLeod & McCarty
DNA is the genetic material
1953 Watson, Crick, Franklin & Wilkins Structure of DNA
1958 Meselson & Stahl
Semiconservative replication of DNA
1961 Sidney Brenner
Discovery of mRNA
1966 Nierenberg & Khorana
Completion of the genetic code
1973 Boyer & Cohen
First use of plasmid to clone DNA
1995 Fleischmann et al.
Sequence of the first genome
1997 Ian Wilmut
First 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 X
The sequence of the human genome.
Science. 2001 Feb 16;291(5507):1304-51. 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