Genes, Development and Inheritance

Module code: BS2026

Module co-ordinator: Dr Fred Tata 

In this module you will examine the ways that organisms transmit and regulate their DNA and genes and explore how this knowledge can be used in modern molecular genetic analysis. We will look in particular at two of the most vibrant areas of modern biology: the study of human genetics and disease, and how genes control an organism’s development.

Experiments and data analyses in this module include

  • Human sex testing and examining chromosome rearrangement by PCR
  • Developmental mutants to study cell fate in Drosophila
  • PCR of human DNA to analyse inheritance in families

Topics covered

Human genetics
Inheritance in human pedigrees. Variable expression, penetrance, anticipation. Polymorphic markers; tracking chromosomes and disease genes. Linkage analysis and linkage map of the human genome. Haplotype analysis; linkage disequilibrium in populations. Recombination hotspots.
    
Sex determination and sex-specific inheritance
Sex determining mechanisms. Sex chromosomes of mammals; evolution. SRY, testis-determining gene. Dosage compensation including X-inactivation. Maternal inheritance of mitochondrial genome. Paternal inheritance of Y chromosome. Genetics + diseases of both systems in humans.
    
Genes in populations/quantitative genetics
Underlying assumptions of Hardy-Weinberg equilibrium. Mutation and genetic drift. Natural and artificial selection. Quantitative traits and modern genetic analysis
    
Maintenance of the genome and chromosome rearrangements
Human chromosome complement; chromosome rearrangements. Effect on meiosis, gamete formation and human diseases. Destabilisation of somatic genome; activation of oncogenes; unmasking tumour suppressor genes. Rearrangements as tools.
    
Molecular genetic analysis of development
Differential gene expression and development.  Making and using transgenics. Detecting gene expression. Localised RNAs and morphogen gradients. Transcriptional regulation. Generating patterns and boundaries.
    
Changes in gene regulation and the evolution of animal bodyplans
Same genes build different bodies. Role of Hox genes in patterning animal bodies. Evolution of patterning. Cis-reulatory elements as substrates for evolutionary change.

Genetics of cell death. Cell death in development
Caenorhabditis elegans - simple model to study multicellular development. Mutational analysis. Dissecting genetic regulation of cell death. Roles for apoptosis in multicellular organisms.

    Learning

    • 26 one-hour lectures
    • 27 hours of practicals
    • 8 one-hour tutorials

    Assessment

    • Exam, 3 hours (70%)
    • Analysis of experimental data (15%)
    • Essay, 1,500 words (15%)