HMB265H1 Lecture Notes - Lecture 12: Pyrosequencing, Deoxycytidine Triphosphate, Dr. Watson

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HMB265 Lecture 11 Genomics
Genome and genomics
- A genome is the total digital information contain within the DNA sequences of an
organism’s chromosomes
- Genomics is the branch of biology dedicated to the study of whole genomes
- Bioinformatics is the science of using computational methods to analyze biological
Why study genomes?
- Allows genes and mutations of interest to be identified much more rapidly and easily
- Opens up prospects for larger-scale, more complete understanding of how genes
interact for biological function
- New frontier of discovery
- Bioprospecting harnessing the function of newly discovered genes / identifying more
targets for therapy
- Molecular evolution
Sequencing the human genome
- Publicly funded HGP “Hierarchical Shotgun”
o First determine the physical location of large pieces of DNA and then sequence
1. Cut many genome copies into random fragments
2. Sequence each fragment
3. Overlap sequence reads
4. Overlap contigs for complete sequence
- Parallel (whole-genome shotgun)
o Sequence whole genome in many small pieces
Pyrosequencing methodology
- Sequencing beads bound to ssDNA fragments derived from the genome of the organism
under study are loaded into the wells of a picotiter (PTP) plate
- Only one bead is able to fit within a single well
- Enzyme beads couple to sulfurylase and luciferase are also packed within the wells
- dCTP flows over the picolitre plate
- the light emitted from each well of the plate is measured
- the amount of light generated from the pyrosequencing reactions each flow of dTTP,
dATP, dCTP or dGTP is recorded for each well generating a flow gram
James Watson’s personal genome sequence
- 32 mutations known to be associated with a disease phenotype
- 12 were known to cause disease when homozygous Dr. Watson was heterozygous for
these alleles
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