BIOL1003 Lecture Notes - Lecture 5: Francis Crick, Missense Mutation, Globin
BIOL1003: Module 3 – Molecular Genetics
Lecture 4 – Lagging Strand Synthesis, Francis Crick and Molecular Phylogenies
Francis Crick
o Almost all aspects of life are engineered at the molecular level, and without
understanding molecules we can only have a very sketchy understanding of life itself
o Bioprocess is a product of evolution
• Disease causing mutations
o Cystic fibrosis: deletion of one codon (not a frameshift), reduces function of the protein
o Huntington's disease: insertion of extra codons (not frameshift) causing abnormal
function of the protein
o Colour blindness: deletion of whole gene
o Achondroplasitic dwarfism: missense mutation causing protein to be more active than
normal
• Genotype to phenotype
o Proteins are the link between genotype and phenotype
o Genes encode proteins; proteins (enzymes) catalyse cellular functions
• Mutations in genes cause enzymes to become dysfunctional, leading to disease
(sickle cell anaemia)
• Molecular phylogenies
o Genome sequencing let us look at all the DNA in an organism and allows new
approaches to evolution
• How much DNA change occurs over time
• What ae the molecular mechanism of evolution
• How have specific proteins changes in response to specific environmental
pressures
• What is the molecular basis for phenotypes differences
o DNA is a document of evolutionary history
• Between any two species, there …
o Evolution change in globin genes
• Function of globin (protein component of haemoglobin) is the same in all species
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