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  1. 1. School of Life Sciences The University of Sussex Course Handbook GENETICS This course is taught in Term 4 and is required for the following degree programmes: Biology, Biochemistry, Biochemistry with European Studies, Biochemistry with Management Studies, Biochemistry with Neurobiology, Biochemistry Sandwich, Molecular Genetics in Biotechnology, Genetics in Biotechnology Sandwich, Human Sciences, Biology with Management Studies, Biology with European Studies, Biology with North American Studies. Course Organiser: Dr. Robert Ray Lecturer: Room Phone e-mail Office Hour Dr. Robert Ray 4C10 7634 Tues,Thurs 11:30-12:30 Meetings with the lecturer can also be arranged individually by appointment. Course Meetings: Lectures (weekly): Wednesdays 11:00 – 12:00 BIOL-BLT Thursdays 15:00 – 16:00 BIOL-BLT Fridays 10:00 – 11:00 BIOL-BLT Tutorials (weeks 3, 5, 7, and 9): Meeting times to be arranged with Tutors during the first week of term. See 2nd year Notice Board for Tutor assignments. Practicals (Group A, weeks 3,5&7, Group B, weeks 4,6,&8): Tuesdays: 13:00 – 16:50 BIOL-3B3 Group assignments will be posted on the Second Year Notice Board.
  2. 2. GENETICS in the core curriculum: In principle, Genetics is a conceptual formalization of the relationship between an organism’s genes and its morphology, physiology, and behavior, or, in genetic terms, its genotype and phenotype. In this light, Genetics is clearly one of the fundamental elements of modern biological science as it links the studies of genes and cells -- the purview of Cellular Biochemistry and Molecular Genetics --with the studies of the organism, its fitness, and its interaction with the environment – the purview of Behavior, Evolution and Ecology. The study of Genetics leads to an understanding of genes and their functions, the patterns of inheritance of genes from one generation to the next, the interactions among genes and between genes and the environment, and the role that genes play in selection and in the fitness of the individual and its environment. Thus, the concepts of Genetics touch upon every discipline in biological science and form one of the core elements in contemporary biological thought. Moreover, the practice of genetics is inferential, and thus, as a field of study, it provides one of the best vehicles for developing analytic skills such as deduction, hypothesis testing and problem solving. Summary of Course: The content of this course will focus on the fundamental concepts of classical genetics in eukaryotes, with the final lectures illustrating applications of Genetics to well-known biological problems. The course will cover nine units: (1) the principles of Mendelian genetics and their applications, (2) the structure of eukaryotic chromosomes and their behavior in Mitosis and Meiosis; the Chromosome Theory of Heredity, how it was proved and how it linked Mendelian genetics with the behaviors of chromosomes, (3) the phenomena of linkage and recombination, how they are detected, how they are measured, and how they are applied in the generation of genetic and molecular maps, (4) the complementation test, the concepts of allelism, allele states, and dominance, (5) chromosome aberrations, including aneuploidy and polyploidy, and the effects of these aberrations on genes, segregation and assortment (6) human genetics and the use of pedigrees to trace the inheritance of human disorders, (7) gene interactions, epistasis, and pathway analysis, (8) the structure of eukaryotic genomes, both nuclear and extra-nuclear, and their evolution, (9) a selection of case studies of central biological problems that have been elucidated by genetic techniques. Throughout the course, the concepts of genetics will be presented in the context of original experiments to give students a perspective on genetic approaches to biological questions, the development and testing of hypotheses, and the analysis of data. Aims and Objectives: The course is designed to offer a view of the field of genetics through an integrated series of Lectures, Reading, Tutorials, and a Practical. The Lectures and Reading introduce the fundamental principles of Genetics that are to be presented in the course, and this material is extended and elaborated in the Tutorials, that provide students with an environment for guided problem solving and discussion. The Practical introduces students to basic genetic concepts in an environment that allows them to gain experience in developing and testing hypotheses, and generating, recording and analyzing data. Assessed written assignments including the Problem Sets and Practical Report offer students an opportunity to develop analytic skills, synthesize course material, and develop a fluency in the language of genetics.
  3. 3. By the end of the course, students should have an understanding of: • principles of Random Segregation and Independent Assortment as proposed by Mendel • structure of eukaryotic chromosomes, their behavior during mitosis and meiosis, and the relationship between these cellular events and Mendel’s principles. • principles of linkage and recombination in model systems and in humans, and their application in the generation of genetic maps • mutation, the nature of mutant alleles and the definition of a genetic locus by complementation • the types of chromosomal mutations, their effects on segregation and recombination, and their applications in genetic studies. • genetic interactions between alleles, pairs of genes and classes of genes and the use of interaction phenomena in the dissection of genetic pathways • sources of genome instability at the level of the gene and genome • genomics, genome maintenance and evolution • The nature of extra-nuclear genomes and their inheritance • the significance of naturally occurring allelic variation • the contributions of genotype and environment to quantitative characters Organization of the course: Lectures. The course includes three hours of lecture per week. The lectures are the primary source for course material, and will provide a framework for the other aspects of the course. Synopses of each lecture, in the form of handouts, will be available at the lecture and subsequently on the Course Web Page (URL given below). A limited number of printed handouts will be available in the Genetics box in the Biology Reading Room. Reading. The required text for the course is: An Introduction to Genetic Analysis, 8th Edition Griffiths, Miller, Suzuki, Lewontin and Gelbart. W.H. Freeman and Company, 1999 The course timetable lists assigned readings from this text (abbreviated IGA) for each week of term. Readings are assigned for each lecture and should be read in preparation for the lecture. The text is available for purchase at the University Bookstore, and there are 24 copies available in the Library for short-term loan. Students are encouraged to purchase the book, as it will be a useful resource both during the term and for revision at the end of the year. Tutorials. The course includes four Tutorials that will expand upon the material presented in the lectures and provide an environment for problem solving and discussion. Meeting times and locations are to be arranged with the Tutor at the beginning of term. Problem Sets. The course includes three assessed Problem Sets due in weeks 3, 5, and 7. Problem sets are designed to test the students understanding of course material, and develop problem-solving and hypothesis-testing skills. Problem Sets will be marked by the tutors and will be returned to the students at the Tutorial session following the submission
  4. 4. date. Students should use their performance on the Problem Sets as a measure of their progress in the course and understanding of the material. ONE copy of each Problem Set, with attached Cover Sheet, must be submitted either to the Submission Desk in the Level 3 foyer of the JMS building, or to the Biology and Environmental Science Department Office, JMS Rm 4B13 (students will be clearly directed to the correct location), by 4:00 pm on the following dates: Problem Set 1 Thursday, 21 October, Problem Set 2 Thursday, 4 November Problem Set 3 Thursday, 18 November Work handed in by 4:00 pm Friday following each of these dates will attract a 10% penalty, and work received after that date will receive a mark of zero. Cover sheets are available from the Department Office throughout the term; Students are encouraged to obtain cover sheets before the due date and attach them firmly to their work prior to submission. Practical work. The course includes a three-part Practical that will allow students to perform simple experiments that highlight central concepts in Genetics. The laboratories will run in weeks 3,5, & 7 or 4, 6, & 8 depending on the Section to which the student is assigned. Section assignments will be posted on the 2nd Year Notice Board at the beginning of term. Students will compile their data and analyses from the practical into an assessed Practical Report due at the end of the tenth week of term. ONE copy of the Practical Report, with attached Cover Sheet, must be submitted either to the Submission Desk in the Level 3 foyer of the JMS building, or to the Biology and Environmental Science Department Office, JMS Rm 4B13 (students will be clearly directed to the correct location), by 4:00 pm on Thursday 9 December. Work handed in by 4:00 pm Friday, 10 December will attract a 10% penalty, and work received after that date will receive a mark of zero. Cover sheets are available from the Department Office throughout the term; Students are encouraged to obtain cover sheets before the due date and attach them firmly to their work prior to submission. Assessment. The formal assessment for the course is as follows: Problem Sets 15% Practical Report 15% Early Finals Examination 70% Note: Assessed work that is late due to ill health or other mitigating circumstances MUST be submitted directly to the Course Organizers with a written explanation of the circumstances and a photocopy of the Medical Certificate or other evidence. Web-based Resources: Course Website: Teaching pages:
  5. 5. Timetable for GENETICS Autumn 2004 Week Date Lecture Reading pp from IGA. 1 Wed Introduction to GENETICS review pp 2-22 Thu Mendelian Genetics I pp 28-34 Fri Mendelian Genetics II pp 36-39 2 Wed Mendelian Genetics III pp 39-40 Thu Chromosomes and Mitosis pp 80-93 Fri Meiosis pp 90-95 3 Wed Sex Linkage and Non-disjunction pp 48-52, 74-80 Thu Linkage pp 116-121 Fri Recombination pp 121-124 4 Wed Genetic Mapping and Interference pp 124-127 Thu Genetic and Molecular Mapping pp 127-129 Fri Complementation and Allelism pp 198-202, 207-208 5 Wed Allelic states and Dominance pp 535-537 Thu Deficiencies and Inversions pp 496-501; 502-505 Fri Translocations and Duplications pp 501-502; 505-506 6 Wed Aneuploidy pp 490-496 Thu Dosage Compensation pp 323, 425 Fri Polyploidy pp 483-490 7 Wed Pedigree Analysis pp 42-48; 52-55 Thu Gene Interactions and Epistasis pp 197-204 Fri Regulatory Epistasis and Development 8 Wed Enhancement and Suppression pp 204-206 Thu Epigenetic Phenomena pp 232-332 Fri Non-nuclear Inheritance pp 55-58; 103-106 9 Wed Transposable Elements pp 424-429; 434-438 Thu Genomes and Genetics pp 390-415 Fri Quantitative Genetics pp 644-666 10 Wed Cloning Thu No Lecture Fri No Lecture
  6. 6. Timetable for GENETICS (cont.) Week Tutorials Practical/Assessed Work 1 2 3 Tutorial I: Problems in Segregation Practical Groups 1-4, Session I Tuesday, 19 October Assessed Problem Set Due by 4:00 pm Thursday, 21 October 4 Practical Groups 5-8, Session I Tuesday, 26 October 5 Tutorial II: Fungal genetics and the Practical Groups 1-4, Session II analysis of individual meioses. Tuesday, 2 November (Problem Set 1 returned) Assessed Problem Set 2 Due by 4:00 pm Thursday, 4 November 6 Practical Groups 5-8, Session II Tuesday, 9 November 7 Tutorial III: Epistasis and Mammalian Practical Groups 1-4, Session III Genetics Tuesday, 16 November (Problem Set 2 returned) Assessed Problem Set 3 due by 4:00 pm Thursday, 18 November 8 Practical Groups 5-8, Session III Tuesday, 23 November 9 Tutorial IV: Pedigree Analysis (Problem Set 3 returned) 10 Assessed Practical Report Due by 4:00 pm Thursday, 9 December