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Molecular Genetics and Bioinformatics

  • Module code: LS6001
  • Year: 2018/9
  • Level: 6
  • Credits: 30
  • Pre-requisites: LS5001
  • Co-requisites: None

Summary

This module is a core requirement for students taking Biochemistry and Biological Sciences (Genetics & Molecular Biology route), and may be taken as an option by Forensic Biology and Pharmacology students.

This module introduces you to the processes involved in maintaining genome stability, causing genome variability and controlling the coding potential of the genome. Mutation, recombination and transposition, and the interplay between them, are examined as causes of genome instability. The impact of genome instability/change upon gene expression, and its control, links these two main themes of the module. The module also introduces you to bioinformatics and sequence analysis. The use of sequence databases and analysis tools permits the analysis of gene/genome variability, along with the patterns of variability and conservation of sequences. This strand of the module gives an introduction to an area of increasing importance in many areas of bioscience research, including molecular diagnostics and drug development.

Core factual material is provided via lectures, including demonstrations of the databases and analysis tools in the case of the bioinformatics elements, with additional resources being placed on Canvas. Over 50% of the teaching time in the module is spent on computer and laboratory practical work.

Aims

  • To provide knowledge of current concepts concerning genome variability and stability.
  • To explore cellular responses to genome damage and mutation and their systemic effects.
  • To provide a detailed understanding of the processes involved in governing gene expression and response to external and internal stimuli.
  • To provide an appreciation of the importance of bioinformatics in generating and exploiting data.
  • To provide an introduction to the nature of sequence databases and the methods which can be employed to search them for homologies and to predict protein structure - function relationships.

Learning outcomes

On successful completion of the module, students will be able to:

  • describe the processes by which genetic information may be altered, including by mutation, recombination and transposition;
  • discuss and explain the regulation of gene expression;
  • demonstrate practical skills involved in the investigation of the genome and analysis of the regulation of gene expression;
  • identify and discuss basic bioinformatics databases, including their structures, properties and relationships;
  • critically evaluate the key techniques used to search databases, to carry out pairwise and multiple sequence alignment and to predict protein or gene structure;
  • demonstrate appropriate IT skills to enable students to research the theoretical aspects of the module;
  • produce detailed, coherent, scientific reports.

Curriculum content

  • Mechanisms of DNA damage and repair. Types and mechanisms of mutations. Responses to DNA damage.
  • General recombination. Significance and proposed mechanisms of recombination.
  • Role of rec genes and their products.
  • Mobile genetic elements and transposition. Transposable DNA, mechanisms and uses.
  • Regulation of gene expression. Points of control. Selected examples of prokaryotic and eukaryotic systems of gene regulation.
  • The historical and scientific context of data mining the Genome projects.
  • Internet resources: Databases and sites; www advantages and disadvantages; Internet vs. Intranet; Databases: The principal primary databases, their structure, function and inter-relationships; derived and specialised databases; database interrogation by Entrez and Sequence Retrieval System (SRS).
  • Pairwise alignment methods: Needleman-Wunsch, Smith Waterman and derivatives; dotplots.
  • Database homology searching: theory, statistics and pitfalls; BLAST and FASTA algorithms.
  • Multiple sequence alignments; Progressive alignment methods; ClustalW; phylogenetic trees; profile building and Hidden Markov Models.
  • Predicting protein structure/function relationships with the help of alignments, identification of known protein domains; use of structural databases to predict protein structure from alignments.
  • Gene prediction in prokaryotic and eukaryotic genomes; whole genome alignment.

Teaching and learning strategy

This module is delivered through a variety of lectures, tutorials and practical computer and laboratory sessions. Lectures are designed to introduce students to the key features of each topic and prepare students for further self-directed study that is required to achieve the learning outcomes of the module. Bioinformatics lectures will include demonstrations of the various online resources and analysis tools. Practical computer sessions, both supervised and independent, are used to aid the development of IT skills required to manipulate and exploit biological sequence data. Tutorials, along with some activities within lectures, will allow students to check their progress (‘feedback') and to guide them in preparation for future assessments, such as the presentation (‘feed forward'). The practical laboratory sessions provide students with experience of the techniques and materials used to investigate the genome. Additional learning resources for the module will be delivered on Canvas and through directed reading. These additional resources will include the use of an online social book making/annotation tool, such a Diigo, to encourage peer-support of learning within the various areas of the curriculum.

Breakdown of Teaching and Learning Hours

Definitive UNISTATS Category Indicative Description Hours
Scheduled learning and teaching 30 one hour keynote lectures; 6 tutorials of 1 hour each; 2 laboratory practicals sessions of 1½ hours each; 10 x 3 hour and 4 x 2 hour computer sessions 77
Guided independent study Self-directed computer sessions, tutor-directed learning exercises, report writing, presentation preparation, preparation for open book timed essay, student independent study 223
Total (number of credits x 10) 300

Assessment strategy

Summative assessment is through a presentation (worth 15%) and report (worth 35%) based upon a bioinformatics mini-project and an end of module examination (worth 50%), which will require students to answer essay style questions.

A range of formative assessments undertaken both in class and during independent study, of relatively short duration will be set on content determined by the module team. This will provide regular and detailed feedback to students so that they can develop an awareness of their rate and level of progress and of their strengths and weaknesses.

To prepare for the bioinformatics coursework assessment students will undertake formative practical sessions with regular input and support from the module team.

Preparation for the presentation assessment will involve student driven development of criteria and marking schemes, based upon reflective discussion of good/bad presentations. These discussions will be initiated in a Canvas discussion or on a Padlet 'wall', then criteria consolidated in a face-to-face tutorial and finally the weighting for criteria will be decided in a second Canvas discussion or on a Padlet 'wall'.

The laboratory practical session will be formatively assessed in an open book timed essay that will be peer marked. On-going discussion with the module team will assist the student in the development of strategies for improvement and enhancement.

Work in laboratory and computer practicals, preparation and delivery of presentations and discussion within tutorials will enable the development of key skills in communication, teamwork, presentation, numeracy, ICT and independent learning. Thus, key employability skills such as communication, teamwork and self-management will be enhanced from level 5, while higher level 6 skills in leadership and networking will also be developed during presentations and practical sessions.

Mapping of Learning Outcomes to Assessment Strategy (Indicative)

Learning Outcome Assessment Strategy
1. Describe the processes by which genetic information may be altered, including by mutation, recombination and transposition. Formative open book essay (F) Unseen examination paper (S)
2. Discuss and explain the regulation of gene expression. Unseen examination paper (S)
3. Demonstrate practical skills involved in the investigation of the genome and analysis of the regulation of gene expression. Practical laboratory sessions (F)
4) Identify and discuss basic bioinformatics databases, including their structures, properties and relationships. Bioinformatics practical/workshop sessions (F), Presentation (S), Individual bioinformatics research report (S)
5) Critically evaluate the key techniques used to search databases, to carry out pairwise and multiple sequence alignment and to predict protein or gene structure. Bioinformatics practical/workshop sessions (F), Presentation (S), Individual bioinformatics research report (S)
6) Demonstrate appropriate IT skills to enable them to research the theoretical aspects of the module. Bioinformatics practical/workshop sessions (F), Presentation (S), Individual bioinformatics research report (S)
7) Produce detailed, coherent, scientific reports. Formative open book essay (F), Individual bioinformatics research report (S)

Elements of Assessment

Description of Assessment Definitive UNISTATS Categories Percentage
3 hour unseen examination Written exam 50%
Oral presentation Practical exam 15%
Individual bioinformatics research report Coursework 35%
Total (to equal 100%) 100%

Achieving a pass

It IS NOT a requirement that any element of assessment is passed separately in order to achieve an overall pass for the module.

Bibliography core texts

The current editions of the following:

Watson, J.D. et al. Molecular Biology of the Gene, Pearson

Alberts, B. et al. Molecular Biology of the Cell, Garland

Agostino, M. Practical Bioinformatics, Garland Science

Bibliography recommended reading

Krebs, J.E., Goldstein, E.S. and Kilpatrick, S.T. Lewin's Genes X, Jones and Bartlett

Young, P.G. Exploring Genomes. Web-based Bioinformatics Tutorials, Freeman

Lesk, A.M. Introduction to Bioinformatics, Oxford University

In addition relevant journal articles and reviews will be recommended by the module team on individual topics and will form a core part of the students' independent study within this module.

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