Organisation of the human genome

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BB30055: genes and genomes
MV Hejmadi (bssmvh), 2006-07
BB30055: Overview of topics (MVH lectures)
Learning objectives: to understand genome biology and its applications.
TOPICS
Genomes and genome projects
1) Introduction to genomes, organisation
2) Repetitive elements
3) Transposable elements
4) Insights from Human Genome Project
5) Post genomics: transcriptomes, Proteomes, systems, ‘physiome’
Applications of genome projects
6) Molecular medicine: gene identification strategies
7) Cystic fibrosis and other diseases identified using genome mapping
8) Mapping and identifying complex traits and molecular pathology
9) Genetic testing & DNA fingerprinting
Genome evolution
10) Molecular and population evolution
11) Sex chromosomes and mitochondrial genome
Dates*
5/10
12/10
19/10
26/10
2/11
9/11
16/11
23/11
30/11
7/12
14/12
* can be subject to change
Reading List:
1. Human Molecular Genetics 3/e by Strachan and Read (Garland Science) – excellent
updated text with lots of clear and detailed coverage of genome projects, applications,
techniques and evolution (recommended)
2. Genetics: from genes to genomes (2/e) by Leland Hartwell et al (McGraw-Hill) – good
updated overview on most topics covered here
3. Genomes (2/e) by TA Brown (Bios) – rather basic but clear with good illustrations
Genomes and genome projects –
Lecture 1: Introduction to genomes, organisation
Why study the genome? 3 main reasons
1) description of sequence of every gene valuable. Includes regulatory regions which help in understanding not
only the molecular activities of the cell but also ways in which they are controlled.
2) identify & characterise important inheritable disease genes or bacterial genes (for industrial use)
3) Role of intergenic sequences e.g. satellites, intronic regions etc
Organisation of the human genome
BB30055: genes and genomes
MV Hejmadi (bssmvh), 2006-07
Polypeptide coding regions
Gene organisation: Rare bicistronic units
Non-polypeptide-coding:
RNA encoding
Pseudogenes ()
Non processed pseudogenes
Gene fragments:
Processed pseudogenes
Reading: Chapter 9 pp 265-268 HMG 3 by Strachan and Read OR Chapter 10: pp 339-348 Genetics by
Hartwell et al (2/e)
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