MCB2020F MODULE 1 — FIRST YEAR BIO RECAP
IMPORTANT MILESTONES
• 1865 —> Mendel Pea Experiments
• 1944 —> Transforming principle of DNA
• 1952 —> Crystallise DNA bres X-ray photographs
• 1953 —> Discovery of DNA double helix structure
• 2001 —> PCR
• Sequencing of the entire human genome rst occurs
• Info in DNA = responsible for diversity of living organisms but all are closely related
• DNA variation results in species and functional diversity
• Phenotype is made up of proteins
• Central dogma = DNA —> RNA —> amino acids —> polypeptide chains/proteins (transcription
and translation)
REVISION OF DNA STRUCTURE
• DNA provides physical mechanism of heredity —>
result of strict pairing and double helix structure
• Consists of a sequence of nucleotides
• Nucleotides = phosphate group + sugar group +
nitrogenous base
• 4 nucleotides
• PURINES = adenine + guanine
• two organic rings (about 2x the width of
pyrimidines) (aka double base)
• PYRAMIDINES = thymine and cytosine (aka single
base)
• single rings
• A+T = 2 hydrogen bonds
• G+C = 3 hydrogen bonds
• STRICT BASE PAIRING —> Allows for constant width of
the helix
• Hydrogen bonds can be broken easily by heat + enzymes
• Bonds can separate and come together —> each strand can act as a template
• DNA molecule = 2 paired complementary strands forming a double helix structure
REVISION OF AMINO ACIDS
• Amino acid sequence determines 3D structure/shape of the protein
• Shape of the protein determines its function
• Protein structure —>
• Primary = linear chain/sequence of amino acids determined by genetic coding
• Based on covalent peptide bonds
• Secondary = regions stabilised by hydrogen bonds between atoms of the polypeptide
backbone
• Repeated coils/folds in the polypeptide chain
• Alpha helix vs Beta sheets
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, • Tertiary = 3D shape stabilised by side chain interactions
• Overall shape caused by side chain interactions of various amino acids
• Eg. Ionic binds, hydrogen bonds, disulphide bridges
• Quaternary = association of 2 or more polypeptides
• Conversion of biological information occurs from a 1D to a 4D state
• Biological systems function as complex interacting networks of proteins and DNA
• Proteins interact with proteins and proteins interact with DNA
• Model species = can be used in experiments where it may be di cult to work with humans
• Eg. Fruit ies
• Short generational turnover + quick reproduction w/ short lifespan
WHAT IS A GENE —>
In classical genetics:
• Gene = physical and functional unit of heredity and a discrete sequence of DNA that encode
proteins (enzymes, regulatory proteins, structural proteins)
• Can be associated with regulatory regions, transcribed regions and or other functional regions
•
More recently…
• Gene is a locatable region of genomic sequence corresponding to a unit of inheritance
• Gene = DNA segment that contributes to phenotype/function. In the absence of demonstrated
function a gene may be characterised by sequence, transcription or homology
• Chromosome = a collection of genes packaged in a compacted manner to manage the storage,
duplication, expression + evolution of DNA (smaller than a genome —> make up the genome)
• Genome = entire collection of chromosomes in each cell of an organism (coding and noncoding
included within the nucleus of a cell)
• Locus = designated location on a chromosome, can be a gene or noncoding region of DNA
• Humans have:
• 24 kinds of chromosomes (humans have 46 chromosomes where 1-22 are autosomes and
23 is a sex chromosome)
• Genome has 3x10^9 base pairs (nucleotide unit)
• 30 000 genes
WHAT IS AN ALLELE —>
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, • Allele/gene locus= di erent version of the same gene (same functions!)
• Eg. Eye colour in ies
• More than one allele in population = polymorphic trait
• Eg. Eye colour, hair texture
• Wild type = most common form of an allele
• Monomorphic traits = one type of allele exists for that trait eg. Haemoglobin and other protein
coding genes
• Homologous chromosomes/homologs = pair of chromosomes with the same length,
centromere position and staining pattern (one from maternal and one from paternal)
• Carry genes controlling the same characteristics
• Diploid = 2 alleles of each gene/locus —> cells have two matching sets of chromosomes
• Haploid = cells have a single set of chromosomes (eg. Human gametes, pollen, egg)
• Homozygous = when two copies of the alleles at a locus are identical
• Heterozygous = two copies of the alleles at a locus are di erent
• Phenotype = observable characteristics seen in an individual (eg. Tall pea plants)
• Genotype = actual alleles present in an individual ( TT )
• Made up of a particular sequence of amino acids
• 20 types of amino acids
• Each amino acid is encoded by a speci c codon (set of 3 nucleotides
• Triplet code = genetic instructions for a polypeptide chain are written in the DNA as a series of
non-overlapping, three nucleotide words termed codons.
• Sequence conservation and high levels of homology in proteins —> still end up with very
di erent proteins albeit that there are a small number of amino acids
• Genetic code = redundant/degenerate in that multiple codons code for a single amino acid
but NOT ambiguous (each codon only codes for a single amino acid)
• Genetic code has:
• 61 triplet codons (universal across all living organisms)
• Representing 20 amino acids
• 3 codons are STOP codons
• Methionine = START codon (only one codon for Met “initiation codon” - AUG —> U shows its
the RNA code)
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