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GENETICS II: Introduction to Genetics

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1 GENETICS II: Introduction to Genetics
Assist. Prof. Dr. Betul Akcesme

2 Contact Information Office: F1.7 Classroom: A F1. 26 All homework and questions must be submitted by to

3 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

4 Hours Monday Tuesday Wednesday Thursday Friday 09:00-10:00 Genetics II 10:00-11:00 OFFICE 11:00-12:00 Genetics II (LAB) 12:00-13:00 13:00-14:00 14:00-15:00 15:00-16:00 16:00-17:00

5 Grading policy: Quizzes 2 x 5% = 10% Midterm exam 25%
Homework (Project)- Participation 15% (10% - 5%) Final exam 40% Lab 10%

6 Basic and support material to be covered 1 Introduction to Genetics
Week Topic Basic and support material to be covered 1 Introduction to Genetics Basics Concept of Genetics 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 5 Prokaryotic and Organelle Genetics Chapter 14 (Hartwell) 6 7 Gene Regulation in Prokaryotes Chapter 15 (Hartwell)

7 Gene Regulation in Eukaryotes Chapter 16 (Hartwell)
8 Gene Regulation in Eukaryotes Chapter 16 (Hartwell) 9 Somatic mutations and genetics of cancer Chapter 17 (Hartwell) 10 Using Genetics to Study development Chapter 18 (Hartwell) 11 Special Topics in Modern Genetics Epigenetics: Concept of genetics (page ) 12 Stem Cells: Concept of genetics (Page ) 13 Genomics and personalized medicine: Concept of genetics (Page ) 14 DNA Forensics: Concept of genetics (Page )

8 Summarized content of the course
Week 1 Introduction to Genetics Basics Concept of Genetics Week 2 The Eukaryotic chromosome

9 Chromosomal rearrangements and changes in chromosome
Week 3 -4 Chromosomal rearrangements and changes in chromosome Rearrangements of DNA Sequences number Changes in Chromosome Number

10 Prokaryotic and Organelle Genetics
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 Model Organisms: Prototypes for Developmental Genetics
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 EPIGENETIC STEM CELLS Week 11 Special Topics in Modern Genetics

14 Week 13 Special Topics in Modern Genetics GENOMICS AND PERSONALIZED MEDICINE: Week 14 Special Topics in Modern Genetics DNA FORENSICS

15 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!

16 SEVERAL REMINDERS!! Attendance! Submission of assignments on time! Copy-Past is strictly forbidden for assignments and lab reports!!

17 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? Genetics, the science of heredity, is at its core the study of biological information.  All living organisms—from single-celled bacteria and protozoa to multicellular plants and animals— must store, replicate, transmit to the next generation, and use vast quantities of information to develop, reproduce, and survive in their environments Geneticists examine how organisms pass biological information on to their progeny and how they use it during their lifetime.

18 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: The DNA regions that encode proteins are called genes.

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 Genetic variation is the foundation of the diversity of all life
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 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 discipline that describes how physical characteristics (traits) are passed along from one generation to another.

25 Molecular Genetics FOCUS: is the GENE
Its structure, organization and function The study of the chemical and physical structures of DNA, its close cousin RNA, and proteins. Molecular genetics also covers how genes do their jobs. Classical genetics concentrates on studying outward appearances, but the study of actual genes falls under the heady title of molecular genetics.

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. Mathematical in nature, quantitative genetics takes a rather complex statistical approach to estimate how much variation in a particular trait is due to the environment and how much is actually genetic.

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: 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 : 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 The DNA era

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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

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