module specification

AS5005 Molecules of Heredity and Defence runs throughout the year and starts with the underlying principles of molecular biology in eukaryotic and prokaryotic organisms, with emphasis on understanding mechanisms of gene expression, genome structure, variation and replication, and genetic inheritance and genetic causes of disease.   The latter half is an introduction to immunology with an emphasis on molecular aspects, especially linked to immune system genes, genetic variation and immune defence. 
Required prior learning:  to successfully complete this module, students are expected to have adequate knowledge of AS4003 Cell and Molecular Biology or its equivalent.  The module is assessed by a combination of practical report, in-class quizzes, an in-class test, a written report and an exam. Successful completion of the module requires attendance of practical classes.

AS4003 Cell and Molecular Biology or its equivalent

The aims of this module are aligned with the qualification descriptors within the Quality Assurance Agency’s, Framework for Higher Education Qualifications.
This module aims to provide students with the opportunity to study the way genes and genomes are used, comparing human and bacterial systems.  This is followed by a consideration of genetic variation and inheritance in humans and their impact on health and disease. The latter half of the module includes an introduction to immune defences in humans, with an emphasis on the key molecules involved, and the impact of genetic variation on defence against disease. 
The module integrates the knowledge and skills acquired from other modules, and encourages independent learning through the access of information using appropriate laboratory, primary and secondary sources, and informatics resources. It develops competence in laboratory skills through practical work, and in scientific writing. It aims to develop students’ qualities and transferable skills necessary for employment including developing ability to solve problems, and gather and interpret data to inform a focussed theme and writing reports.  Moreover students have an opportunity to develop self-management employability skills by engaging fully with the learning material and opportunities made available to them, and by continually reflecting on their progress through the module using the regular feedback opportunities available to them.

The module starts with a review of gene and genome structure and organisation in eukaryotes (nuclear and mitochondrial genomes) and prokaryotes. This provides a foundation for studying the mechanisms by which gene expression is controlled through the process of gene transcription.  The simpler process of prokaryotic transcription is described first, including a consideration of the operon organisation of genes commonly found in prokaryotes. Generic features of the control of eukaryotic transcription are described, and illustrated with case studies.  Processing of the primary transcription RNA product is described briefly for prokaryotes.  Eukaryotic RNA processing, including capping, splicing, polyadenylation and nuclear export, is described together with a consideration of alternative splicing. The gene expression pathway is completed with a brief study of translation and of the post-translational modifications that proteins can undergo in order to fulfil their biological role.  Emerging areas of genome transcription will be reviewed, including miRNAs and other non-coding RNAs.
The process of genome replication in prokaryotes and eukaryotes will be described, including the enzymes involved.  DNA damage and repair will be discussed and linked to other mechanisms cells employ to ensure RNA and proteins are also made correctly, together forming an overview of cellular quality control systems.
The middle part of the module focuses on human genomes, starting with an overview of genome variation between and within individuals, comparing inherited and somatic variations. The continuing advances in techniques of genome analysis will be reviewed.
The latter half of the module focusses on immunology with an emphasis the molecular aspects of immune defence mechanisms.  Key types of molecules utilised by the immune system are reviewed including the major histocompatibility complex (MHC class 1 and class 2), and the molecular basis of antigen presentation. Genome variation in the MHC locus will be discussed in the context of immunity and disease.  Antibody synthesis, structure and function and the complement system will be described. Production and synthesis of immune signalling molecules such as cytokines will be described, including a consideration of the molecular mechanisms that control expression of cytokine genes.
The module concludes with a review of the influence of genes and genome variation on immune function and an analysis of autoimmune diseases.

Acquisition of knowledge of the subject matter of this module will be promoted through lecturer-led lectures (31h), associated small-group tutorials (15h) and semester reviews (4h). These will be supplemented with the guided use of web-based student-centred learning resources, including web-based directed study and review (68 hours). Each lecture has an associated tutorial class and web-based review in the form of an MCQ test (formative assessment). Links to selected web resources are also provided within individual sessions. Practical classes (16 hours) will be used to develop laboratory skills and to consolidate knowledge in applied aspects of gene expression and immunology. Students are expected to complete a short report to hand in at the end of each class (formative assessment), which will include opportunities for reflective learning. The remaining time is self managed for private study (168 hours).

On successful completion of this module students should be able to:

1. Display an understanding of genome structure, expression and replication in eukaryotes and prokaryotes;
2. Demonstrate an appreciation of the inheritance, analysis and implications of genetic variation in the human genome;
3. Procure or generate, assess and interpret data obtained from a variety of resources including laboratory work,  primary and secondary literature and relevant databases;
4. Show an appreciation of the basic mechanisms of immune responses, including the types          of cells and molecules involved;
5. Extract, collate, analyse and summarise data on a focussed topic to develop report writing as an employability skill (Communication and Literacy).

 Assessment is designed to promote deep learning through regular formative and summative assessment with quizzes throughout the module (20%).  The highest marks from three quizzes each semester, out of 12 taken across the module (six per semester), will be included in the Quizzes component of the module mark. A reassessment quiz will be held at the end of each semester covering material tested in the semester’s six quizzes. Longer summative tests will assess knowledge acquired through either semester, assessed by an in-class test (1h 20%) at the end of the autumn semester, and an unseen examination (1h 20%) at the end of the spring semester. There are two coursework components. One is a practical report based (20% 1500 words) and the other is a report written from information from primary and secondary literatures sources and informatics databases (20%; 1500 words). Criteria for assessment will include an understanding of the subject matter; an ability to explain, describe and discuss the work; completeness and conciseness of written reports and essays with emphasis upon critical ability and scientific rigour.

To pass the module, students need to achieve a minimum aggregate mark of 40%.  There will be an attendance requirement for the practical sessions. If the module is passed on reassessment, then the maximum mark awarded will be 40%.

ABBAS, A.K., LICHTMAN, A.H. and PILLAI, S. (2014) Basic Immunology: functions and disorders of the immune system. 4th ed. Philadelphia: Elsevier/Saunders.
ALBERTS, B., JOHNSON, A., LEWIS, J., MORGAN, D., RAFF, M., ROBERTS, K. and WALTER, P. (2015) Molecular Biology of the Cell. 6th ed. New York: Garland Science. [CORE]
COX, M.M., DOUDNA, J.A. and O’DONNELL, M. (2012) Molecular Biology. Principles and Practice.  New York: Freeman.
CUMMINGS M.R. (2013) Human heredity: principles and issues. 10th ed. Pacific Grove, California: Brooks / Cole.
GEHA, R. and NOTARANGELO L. (2012) Case studies in immunology. 6th ed. London: Garland Science.
HARTWELL, L.H., GOLDBERG M.L., FISCHER, J.A., HOOD, L.E., AQUADRO, C.F. and BEJCEK, B.E. (2014) Genetics: from genes to genomes. 5th ed. New York: McGraw-Hill.
HARTL, D.L. and RUVOLO, M. (2012) Genetics: analysis of genes and genomes. 8th ed. London: Jones and Bartlett.
KORF, B. R. and IRONS, M.B. (2013) Human genetics and genomics. 4th ed. Chichester: Wiley-Blackwell.  [CORE]
OWEN, J.A., PUNT, J., STRANFORD, S.A. and JONES, P.P. (2013) Kuby Immunology. 7th ed. New York: Freeman. [CORE]
PLAYFAIR, J.H.L. and CHAIN, B.M. (2013) Immunology at a Glance. 10th ed. Chichester: John Wiley.

Web Resources
The Human Genome. The Wellcome Trust. [online]  Available at:   <http://genome.wellcome.ac.uk> [Accessed 31 July 2015].
Learn. Genetics. Genetic Science Learning Center. University of Utah. [online] Available at: <http://learn.genetics.utah.edu> [Accessed 31 July 2015].
Genetic and Rare Conditions Site. University of Kansas Medical Center. [online] Available at: <http://www.kumc.edu/gec> [Accessed 31 July 2015].
DNA Learning Center. Cold Spring Harbor Laboratory. [online] Available at: <http://www.dnalc.org> [Accessed 31 July 2015].
Bite-sized Immunology.  British Society for Immunology. [online] Available at : <http://bitesized.immunology.org> [Accessed 31 July 2015]