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GENETICS I:
Introduction to Genetics
Assist. Prof. Dr. Betul Akcesme
• Books:
• Genetics From Genes to genomes .
Hartwell. Hood. Goldberg. Reynolds. Silver. Veres. 4th edition
• Essential of Genetics, by W. Klug , M. Cummings, C. Spencer, M. Palladino , 9th edition,
Weekly schedule
Summarized content of the course
• Week 1
• Introduction to Genetics
DNA structure
• Week 2
• Chromosome and
Chromatin structure
• Week 3 -4
• Mitosis
• Meiosis
8
• Week 5-6
• Mendelian Genetics
▫ Law of segregation
▫ Law of independent
assortment
9
• Week 7
• Extensions to Mendel's
Law
• Week 8
Gene structure and
organization overview
10
• Week 9
• Replication and
recombination
• Week 10
• Mutations
11
• Week 11
• Gene Expression: The
Flow of Information from
DNA to RNA
• Week 12
• The Flow of Information
from RNA to Protein:
TRANSLATION
12
• Week 13
• Linkage, Recombination, and
the mapping of genes on
chromosome
• Week 14
• Digital Analysis of DNA
▫ PCR
13
Lab Activities and tutorials:
• Weekly basis tutorials for practice!
• Lab activities will be announced before one
week.
• 1. Mitosis
• 2.Meiosis
• 3. PCR
• Lab reports!
SEVERAL REMINDERS!!
• Attendance of lectures and tutorials are
MANDATORY!
▫ Up to 30% absence is tolerated! ( 9 out of 28)
• Submission of assignments and lab reports 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?
Explains how are the traits inherited from parents to offspring.
The field of natural sciences concerned with the diversity, replication, mutation and expression of the information in the genes.
What is Genetics?
The importance of genetics
Genes influence our lives! How?
• Height • Weight • Hair color • Skin pigmentation • Our susceptibility to diseases • Contribute to our inteligence and personality …
They affect our:
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
industry
• Biotechnology
• Medicine
Genetics influenced:
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)
Molecular genetics
Population genetics
24
Quantitative genetics
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
27
Quantitative Genetics
• A highly mathematical
field that examines the
statistical relationships
between genes and the
traits they encode.
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: Frederick Griffith discovers 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: Edward Lawrie Tatum 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).
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
31
The
DNA
era
The g
enom
ics
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
33