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GENETICS I: Introduction to Genetics Assist. Prof. Dr. Betul Akcesme 2 NS209 Genetics I Office: F1.7 [email protected] Monday-Wednesday 13:30-14:45 Classroom: A F1. 10 • 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 8 • Week 3 -4 • Mitosis • Meiosis 9 • Week 5-6 • Mendelian Genetics ▫ Law of segregation ▫ Law of independent assortment 10 • Week 7 • Extensions to Mendel's Law • Week 8 Gene structure and organization overview 11 • Week 9 • Replication and recombination • Week 10 • Mutations 12 • Week 11 • Gene Expression: The Flow of Information from DNA to RNA • Week 12 • The Flow of Information from RNA to Protein: TRANSLATION 13 • Week 13 • Linkage, Recombination, and the mapping of genes on chromosome • Week 14 • Digital Analysis of DNA ▫ PCR 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? What is Genetics? 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. 19 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 … 20 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 21 Genes are fundamental to WHO and WHAT we are • Agriculture • Pharmaceutical Genetics influenced: industry • Biotechnology • Medicine 22 The role of genetics in biology Understanding of genetics is important to ALL people, but CRUCIAL to the students in the life sciences. 23 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 24 Basic division of Genetics Transmission genetics (Mendelian Genetics) Population genetics Molecular genetics Quantitative genetics 25 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 26 Molecular Genetics • FOCUS: is the GENE • Its structure, organization and function 27 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. 29 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 30 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 31 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 33 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