GENETICS II:
Introduction to Genetics
Assist. Prof. Dr. Betul Akcesme
2
Contact Information
Office: F1.7
[email protected]
Classroom: A F1. 26
All homework and questions must be
submitted by email to
[email protected]
• Books:
• Genetics From Genes to genomes .
Hartwell. Hood. Goldberg. Reynolds.
Silver. Veres. 4th edition
• Concept of genetics. Klug, W, Cummings,
M, Spencer, C, Palladino, M. 10th edition
Hours
Monday
Tuesday
09:0010:00
Genetics II
10:00-11:00 OFFICE
Genetics II
11:00-12:00 OFFICE
12:00-13:00
13:00-14:00
14:00-15:00
15:00-16:00
16:00-17:00
Wednesday
Thursday
Friday
OFFICE
Genetics II
OFFICE
Genetics II
(LAB)
Grading policy:
Quizzes
2 x 5% = 10%
Midterm exam
25%
Homework (Project)Participation
15% (10% - 5%)
Final exam
40%
Lab
10%
Wee
Topic
k
1 Introduction to Genetics
Basics Concept of Genetics
Basic and support material to be covered
The scope and nature of the subject
Review of basic concepts and terms in Genetics
2
The Eukaryotic chromosome
Chapter 12 (Hartwell)
3
Chromosomal rearrangements
and changes in chromosome
number
Chapter 13 (Hartwell)
4
Chromosomal rearrangements
and changes in chromosome
number
Chapter 13 (Hartwell)
5
Prokaryotic and Organelle
Genetics
Chapter 14 (Hartwell)
6
Prokaryotic and Organelle
Genetics
Chapter 14 (Hartwell)
7
Gene Regulation in Prokaryotes Chapter 15 (Hartwell)
8
Gene Regulation in Eukaryotes Chapter 16 (Hartwell)
9
Somatic mutations and genetics Chapter 17 (Hartwell)
of cancer
10 Using Genetics to Study
development
Chapter 18 (Hartwell)
11 Special Topics in Modern
Genetics
Epigenetics: Concept of genetics (page 517-528)
12 Special Topics in Modern
Genetics
Stem Cells: Concept of genetics (Page 529-544)
13 Special Topics in Modern
Genetics
Genomics and personalized medicine: Concept of
14 Special Topics in Modern
Genetics
DNA Forensics: Concept of genetics (Page 493-544)
genetics
(Page 504-516)
Summarized content of the course
• Week 1
• Introduction to Genetics
• Basics Concept of Genetics
• Week 2
• The Eukaryotic chromosome
9
• Week 3 -4
Chromosomal rearrangements
and changes in chromosome
▫ Rearrangements of DNA
Sequences number
▫ Changes in Chromosome
Number
10
• Week 5-6
• Prokaryotic and
Organelle Genetics
▫ Bacterial Genomes
▫ The Genetics of
Chloroplasts and
Mitochondria
11
• Week 7
• Gene Regulation in
Prokaryotes
• Week 8
Gene Regulation in
Eukaryotes
12
• Week 9
• Somatic mutations and genetics
of cancer
• Week 10
• Using Genetics to Study
development
▫ Model Organisms:
Prototypes for
Developmental Genetics
▫ Analysis of
Developmental Pathways
13
• Week 11
• Special Topics in
Modern Genetics
• EPIGENETIC
• Week 12
• Special Topics in
Modern Genetics
• STEM CELLS
14
• Week 13
• Special Topics in Modern
Genetics
GENOMICS AND
PERSONALIZED
MEDICINE:
• Week 14
• Special Topics in Modern
Genetics
• DNA FORENSICS
Lab Activities:
• Lab activities will be announced before one
week.
• 1. DNA extraction
• 2. PCR (Polymerase Chain Reaction)
• 3. Gel Electrophoresis
• (ADDITIONAL LABS ARE POSSIBLE. ADDITIONAL
CHANGES POSSIBLE)
• Lab reports!
SEVERAL REMINDERS!!
• Attendance!
• Submission of assignments on time!
• Copy-Past is strictly forbidden for assignments
and lab reports!!
What is Genetics?
… the study of heredity and
the variation of inherited
characteristics.
Why studying genetics?
Why is genetics important?
What are the reasons of its rapid
development?
18
The importance of genetics
Genes influence our lives! How?
They affect our:
•
•
•
•
•
•
Height
Weight
Hair color
Skin pigmentation
Our susceptibility to diseases
Contribute to our inteligence and personality …
19
Some traits determined by our genes
Dominant
Recessive
Low heart rate
High heart rate
Unattached (free) earlobe
Attached earlobe
straight nose
turned up nose
extra finger or toe
Normal 5 fingers and toes
Curly Hair
Flat hair
A and B blood type
O blood type
Broad Lips
Slender lips
large eyes
Small eyes
Darker hair
Lighter hair
long eyelashes
Short eyelashes
Slower aging
accelerated aging
20
Genes are fundamental to WHO and WHAT we are
• Agriculture
• Pharmaceutical
Genetics
influenced:
industry
• Biotechnology
• Medicine
21
The role of genetics in biology
Understanding of genetics is
important to ALL people, but
CRUCIAL to the students in
the life sciences.
22
Genetics provides one of the biology’s
unifying principles: all organisms
- Use the same genetic system
The study of all most every field of biology
is incomplete without understanding of
genes (and genetic methods)
Genetic variation is the foundation of the
diversity of all life
23
Basic division of Genetics
Transmission
genetics
(Mendelian
Genetics)
Population
genetics
Molecular
genetics
Quantitative
genetics
24
Transmission genetics -Mendelian Genetics
• FOCUS: is on INDIVIDUAL
• How an individual organism inherits
its genetic make up and how it passes
its genes to the next generation
• Phenotype
• Cell and chromosomes
• Cell division
• Simple and complicated forms of
inheritance
25
Molecular Genetics
• FOCUS: is the GENE
• Its structure, organization and function
26
Population genetics
• FOCUS: the group of
genes found in a
POPULATION
• it’s a search for patterns
that help describe the
genetic signature of a
particular group
Quantitative Genetics
• A highly mathematical
field that examines the
statistical relationships
between genes and the
traits they encode.
28
Model Organisms
• Almost all major groups of
▫ Bacteria
▫ Fungi
▫ Protists
▫ Plants and
▫ Animals
• Model organisms: organisms with characteristics that make them particularly
useful for genetic analysis
• About which a large amount of genetic information has been accumulated
29
Classical genetics
1865: Gregor Mendel's paper, Experiments on Plant Hybridization
1869: Friedrich Miescher discovers a weak acid in the nuclei of white blood cells that
today we call DNA
1889 Hugo de Vries postulates that "inheritance of specific traits in organisms comes
:
in particles", naming such particles "(pan)genes
"
1903 Walter Sutton and Theodor Boveri hypothesizes that chromosomes, which
:
segregate in a Mendelian fashion, are hereditary units
1908: Hardy-Weinberg law derived
1910: Thomas Hunt Morgan shows that genes reside on chromosomes
1913: Alfred Sturtevant makes the first genetic map of a chromosome
1928 FrederickGriffithdiscovers that hereditary material from dead bacteria can be
:
incorporated into live bacteria (see Griffith's experiment)
1931: Crossing over is identified as the cause of recombination
1941 EdwardLawrieTatum and George Wells Beadle show that genes code for
:
proteins; see the original central dogma of genetics
30
1944: The Avery–MacLeod–McCarty experiment isolates DNA as the genetic material (at that time called transforming
principle)
1948: Barbara McClintock discovers transposons in maize
1950: Erwin Chargaff shows that the four nucleotides are not present in nucleic acids in stable proportions, but that
some general rules appear to hold (e.g., that the amount of adenine, A, tends to be equal to that of thymine, T).
The
DNA
era
1952: The Hershey-Chase experiment proves the genetic information of phages (and all other organisms) to be DNA
1953: DNA structure is resolved to be a double helix by James D. Watson and Francis Crick[11]
1956: Joe Hin Tjio and Albert Levan established the correct chromosome number in humans to be 46
1958: The Meselson-Stahl experiment demonstrates that DNA is semiconservatively replicated
1961 - 1967: Combined efforts of scientists "crack" the genetic code, including Marshall Nirenberg, Har Gobind
Khorana, Sydney Brenner & Francis Crick
1964: Howard Temin showed using RNA viruses that the direction of DNA to RNA transcription can be reversed
1970: Restriction enzymes were discovered in studies of a bacterium, Haemophilus influenzae, enabling scientists to
cut and paste DNA
32
The genomics era
1972: Walter Fiers and his team at the Laboratory of Molecular Biology of the University
of Ghent (Ghent, Belgium) were the first to determine the sequence of a gene: the gene
for bacteriophage MS2 coat protein.
1977: DNA is sequenced for the first time by Fred Sanger, Walter Gilbert, and Allan
Maxam working independently. Sanger's lab sequence the entire genome of
bacteriophage Φ-X174.
1983: Kary Banks Mullis discovers the polymerase chain reaction enabling the easy
amplification of DNA
1989: The human gene that encodes the CFTR protein was sequenced by Francis Collins
and Lap-Chee Tsui. Defects in this gene cause cystic fibrosis
1995: The genome of Haemophilus influenzae is the first genome of a free living
organism to be sequenced
1996: Saccharomyces cerevisiae is the first eukaryote genome sequence to be released
1998: The first genome sequence for a multicellular eukaryote, Caenorhabditis elegans,
is released 2001: First draft sequences of the human genome are released simultaneously
by the Human Genome Project and Celera Genomics.
2003 (April 14th) : Successful completion of Human Genome Project with 99% of the
genome sequenced to a 99.99% accuracy