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Life
Universe = 13.8bya
Solar System = 4.6bya
Life = 3.8bya
1.8million species identified, thousands more each year, with 10-100 million species in total, of which
are arthopods
Characteristics of Life:
Reproduce
Grow and Develop
Metabolise
Respond to Stimuli/Environmental Changes
Have Cells (organizational units)
Possess the Chemicals of Life
o Carbohydrates
most abundant, chemically simple organic molecules
store/transport energy (mostly in plants, animals use lipids), structural components
monosaccharides link to form oligosaccharides (2-6) or polysaccharides
o Proteins
Dependent on amino acid sequence, linked by peptide bonds
4 different levels of organisation (shape-dependent)
o Lipids
fats, oils, waxes, cholesterol, fat-soluble vitamins (A, D, E, K), monoglycerides,
diglycerides, phospholipids
energy storage, structural component of cell membrane
o Nucleic Acids
formed by linking nucleotides
store/transfer genetic information
DNA, RNA
Prions (proteinaceous infectious particles) are altered proteins that can change other proteins through
conformation.
Domains (classification), defined by Carl Woese (compared ribosomal RNA, formed phylogenetic tree):
Eukarya (35 subdivisions) - plantae, fungi, animalia, 50-100 protist kingdoms
Bacteria (19 subdivisions)
Archaea (16 subdivisions) - many are extremophiles (halophiles, thermophiles,
methanogens - swamps/marshes, anaerobic and produce methane)
Prokaryotes = bacteria + archaea; thrive almost anywhere, more in handful of soil than the
number of people who have ever lived
Cells
Bacteria and Archaea:
most numerous cells on the planet
no defined nucleus (DNA in cytoplasm)
very wide range of metabolic diversity
cell wall
10-20 times as many bacteria in/on the ;human body than there are human cells (of which there
are 1013)
Cell Membrane has a hydrophilic head and 2 hydrophobic tails (controls what comes in and out of
cell).
All cells contain:
plasma membrane
cytosol (semifluid)
chromosomes
ribosomes
Bacteria
and Archaea undergo binary fission (not mitosis which involves
nuclear division, which they do not have, and instead chromosomes
simply replicate
Bacteria Archaea
Cell membrane contains ester bonds Cell membrane contains ether
linkages
Cell wall made of peptidoglycan Cell wall lacks peptidoglycan
One RNA polymerase Three RNS polymerases (like
eukaryotes - genes and enzymes are
more like this)
Bacterial ribosomes sensitive to some Archaea (and Eukarya) are not
antibiotics sensitive to antibiotics
Ubiquitous Typically extremophiles, also in many
marine environments
Whilst archaea are similar to bacteria in size, shape, lack of interior membranes (and hence organelles),
no nucleus (DNA in a single loop - plasmid), and they are both usually bound by a cell wall, archaea are
more genetically similar to eukaryotes.
Cell Theory:
The smallest unit of life is a cell
All life forms are made of cells
Cells only arise from pre-existing cells
cytoplasm - comprised of organelles and cytosol (gelatine-like aqueous fluid containing salts,
minerals and organic compounds)
nucleus - contains nucleoplasm in nuclear envelope (double membrane system - two lipid bilayers)
which has selectively permeable pores for RNA and ribosome output; a nucleolus/nucleole (no
membrane) composed of protein and nucleic acids where ribosomal RNA transcription (ribosome
manufacture occurs); also houses chromosomes (DNA+histones), which are condensed together into
chromatin
ribosomes - (no membrane because in both eukarya and prokarya) converts mRNA sequence into
proteins by connecting amino acids to tRNA which then complements the mRNA, catalysing some
components of this reaction (e.g. polymerisation of amino acids into polypeptide chain); consists of
large and small subunit; biochemically consists of rRNA (ribosomal RNA) and ~50 structural
proteins
endoplasmic reticulum - the endomembrane system modifies protein chains into their final form,
synthesises lipids and packages final proteins and lipids into vesicles for export or use in the cell;
continuous with the other membrane of the nuclear envelope, forming a web or mesh of
interconnected membranes coming off the nucleus
o Rough ER - closest to the nucleus, contains ribosomes for translation with mRNA coming out of
nucleus, and is used for protein synthesis and transport (through the channels formed)
lysosomes - small organelles that contain enzymes which breakdown lipids, carbohydrates and
proteins into small molecules that can be used by the cell, and also to remove junk and clutter
cytoskeleton - network of protein filaments and microtubules, controls cell shape, maintains
intracellular organisation, acts as tracks for transport, and is involved in cell movement; three types
of fibres
o Microfilaments - (mostly actin, 7nm thick) maintain cell shape by compression resistance,
involved in membrane pinching in division, forming pseudopodia, and in muscle contraction
mitochondria - (1-10m) generate most of the cells ATP supply, also used in signalling, cell cycle,
growth and death; contain folds called cristae and matrix within
chloroplast - found in plant, algae and some bacteria for photosynthesis, contain granum (stacks of
thylakoid discs), surrounded by the gelatinous stroma and connected by stroma lamellae
membrane
Endosymbiosis - symbiosis in which one of the organisms lives inside another (as with
mitochondria and chloroplasts from cyanobacteria).
Evidence includes:
double membrane (one from original cell, one from new packaging)
contain ribosomes more like prokaryotes
contain circular DNA (plastids), growing and reproducing independent of the cell through binary
fission
size of bacteria is the same as the organelles
Cellular Transport
Passive Transport (no energy required):
Diffusion - down concentration gradient
Facilitated Diffusion - down concentration gradient with assistance of transporter protein
(either for faster transfer or for molecules that could not otherwise cross
o Channels/Conduits - allow direct passage from one side to another
corridor for specific molecules or ions to cross
Example: aquaporins are the protein channel for water (water is polar and
travels quite slowly otherwise)
may be gated (require another molecule to be bound to a specific site before they
function)
o Carriers/Transporters
alternates between two shapes, moving the solute across in the process in either
direction (dependent on concentration gradient)
binding sites for activation show specificity
slower than channels
Photosynthesis
The physico-chemical process is used by plants, algae
(oxygenic) and photosynthetic bacteria (anoxygenic; uses
bacterial chlorophylls) to produce organic compounds with light as
oxygen (only 0.5% of the 21% is produced by NON-biological
processes, the main sources being cyanobacteria, plankton and
plants), whilst consuming the toxic CO2. Photosynthesis
supplies all food, petrol (and natural gas, coal and ethanol), and
clothing and building materials. In eukaryotes, photosynthesis occurs in chloroplasts (green +
form or entity), which are double membrane-bound flat discs 2-10m in diameter and 1m thick,
containing lots of small discs called thylakoid (thylakos = sac) which consist of a thylakoid membrane
surrounding a thylakoid lumen, and exist as stacks called grana (Latin for stacks of coins), connected
by intergrana or stroma thylakoids. This is placed in a thick fluid called the stroma (the site of light-
independent reactions). The pigment chlorophyll is used to absorb light on the thylakoid membrane,
and green light is reflected whilst red and blue are mostly absorbed (by chlorophyll a and b and
carotenoids).
Photosynthesis occurs in two stages:
1. Light-Dependent Reactions - light captured, electron and proton transfer reactions to
make energy-carrying molecules, produces ATP and NADPH
2. Light-Independent Reactions - ATP and NADPH used to convert CO2 into glucose
ATP (adenosine-5-triphosphate) is produced by either redox reactions or photons. If it is done
by photons (sunlight) it is called photophosphorylation (phosphorylation simply means adding
phosphate group). The light energy is converted into electrical energy and packaged into chemical
energy as ATP or NADPH (nicotinamide adenine dinucleotide phosphate; considered energy couriers -
provide temporary storage of chemical energy). This process is performed by photosystems (protein
complexes that contain chlorophyll) found in thylakoid membranes. The chlorophyll are bound to
proteins which act as antennae that absorb photons and transfer the excited electron to the reaction
centre.
First a photon hits a chlorophyll molecule surrounding the Photosystem II (P680 as it absorbs a
wavelength of 680mm - penetrated faster than longer wavelengths, hence first), and the chlorophyll
molecules transmit energy from the excited elections in the antenna complex to a reaction centre. Each
photosystem has one pair of chlorophyll a molecules, but hundreds of chlorophyll b and carotenoid
molecules. Chlorophyll b and carotenoids absorb photons and pass excited electrons to each other
until it reaches the chlorophyll a, where the electrons can then be transferred (by an electron transfer
chain) to the primary electron acceptor (P.E.A.).
Electrons lost from the P680 are replaced by the splitting of water (2H 2O 4H+ + O2 + 4e-),
where the protons and oxygen are produced in the thylakoid space (producing a proton gradient
across the thylakoid membrane) whilst the electrons continue in the membrane until they reach
plastoquinone (Pq), the first mobile carrier, where the electron carrier that holds the electron takes it
to the cytochrome complex (consists of several subunits like cytochrome f and cytochrome b6) back
into the thylakoid space. The electrons are then transferred to plastocyanin (Pc), until they reach
Photosytem I (P700; discovered first). This is another large protein-pigment complex that contains
light-absorbing antenna molecules where photons are absorbed and electrons taken to reaction
centres, then on to ferredoxin (Fd) outside the thylakoid, which transfer the electron to Ferredocin
NADP Reductase (FNR) which catalyses NADP + + H + 2e- NADPH in the case of non-cyclic
photophosphorylation.
In cyclic photophosphorylation ATP is produced (as this is sometimes needed to power other
activities in the chloroplast), where the electrons are recycled by being transferred back to the
cytochrome b6f complex (via Fd and Pq) to resume the cycle.
Light-independent
reactions occur in
the stroma
(outside the
thylakoids) in the
Calvin cycle. It
requires:
Ribulose-
1,5-
biphosphate carboxylase oxygen (RuBisCO) - which catalyses carbon fixation to RuBP, probably
most abundant protein on Earth
Ribulose-1,5-biphosphate (RuBP) - 5-carbon sugar chain, CO 2 acceptor in first major step of
carbon fixation
CO2 - used during fixation
ATP and NADPH - used in reduction phase to convert 3-phosphoglycerate to glyceraldehyde-3-
phosphate (three carbon precursor to flucose), and ATP is used in regeneration phase where it
converts this back into RuBP
The first stage is carbon fixation, where RuBisCO attaches CO2 to RuBP (6-carbons), which
breaks into two phosphoglyceric acids (3-PG as they have 3 carbons each). This is phosphorylated
(adds phosphate group) by ATP to form 1, 3-biphosphoglycerate, then NADPH reduces this in the
reduction phase into glyceraldehyde-3-phosphate (G3P) - the ultimate goal of the Calvin Cycle. This is
composed of the simplest sugar known (D-aldotriose), which can be combined to form organic
molecules like fructose (which can then be rearranged into glucose, or other molecules like sucrose
and starch). In the regeneration phase G3P can be converted back to RuBP by ATP. In total, one
glucose molecule requires 6CO2, 18ATP, 12NADPH (1NADPH 3ATP in terms of energy).
An Introduction to Metabolism
Metabolism - the totality of an organisms chemical reactions (both catabolic and anabolic
pathways) to
manage material
and energy
sources. A
metabolic pathway
involves a starting
molecule/s which
undergoes several
reactions catalysed
by enzymes to
produce
intermediates and
eventually a
desired product.
Catabolic
pathways RELEASE
energy (produce
ATP) by breaking
down complex
molecules INTO
simpler ones (e.g.
cellular respiration
- break down of
glucose in presence of O2). Anabolic pathways CONSUME energy (use ATP) to build complex molecule
FROM simples ones.
All organisms require both an energy and carbon source from the environment:
Phototrophs Chemotrophs
energy = light energy = chemicals
Photo-autotrophs
Chemo-autotrophs
Autotrophs (photosynthetic bacteria,
chemicals are inorganic
carbon = CO2 plants, some protists like
(some bacteria)
algae)
Heterotrophs Photo-heterotrophs Chemo-heterotrophs
carbon = one or (some bacteria) chemicals are organic
more organic (many bacteria and protists,
compounds, e.g. animals, parasitic plants)
glucose
ATP is the energy shuttle of a cell,
composed of a ribose (sugar), adenine
(nitrogenous base) and three phosphate
groups. The bonds between the
phosphate groups of the ATP tail can be broken down by hydrolysis (addition of water), and the lone
inorganic phosphate becomes Pi, producing G=-31kJ/mol of energy and leaving adenosine
diphosphate (ADP - note only two phosphate groups now). The ATP cycle allows energy from
catabolism (exergonic) to be transported to areas where energy is required and consumed
(endergonic). ATP can be generated in two ways:
Oxidative Phosphorylation - addition of Pi to ADP to produce ATP powered by redox reactions
in the electron transport chain
Substrate-level Phosphorylation - an enzyme transfer a phosphate group from a DIFFERENT
substrate (which has a phosphate group) to produce ATP
Catabolic processes in higher animals and other organisms require O 2 (they are aerobic). For
example, respiration: C6H12O6 + 6O2 6CO2 + 6H2O. In many protists and bacteria catabolic processes
dont need O2. For example fermentation: C 6H12O6 2C2H5OH + 2CO2 OR C 6H12O6 C3H5O3-
(lactate ion) + 2H+.
Fermentation also occurs in eukaryotic
cells, as glucose undergoes glycolysis to to form
pyruvate, in which either fermentation can occur
and only 2ATPs are produce, or respiration can
continue into the mitochondria and produce a
net energy of 36ATP.
(becomes part of 6)
Respiration is
controlled by
allosteric enzymes. For example, phosphofructokinae (PFK) catalyses the third step in glycolysis,
however it is inhibited by citrate (from the citric cycle) and ATP, whilst being stimulated by AMP.
Amino acids from proteins are broken down to acetyl-CoA or intermediates within the
glycolysis or TCA cycle, whilst carbohydrates and fats are both broken down aerobically into acetyl-
CoA (allows for recycling of some materials, which is what occurs when eating food). Ultimately it will
form CO2 and H2O (the products of respiration). In cases of low O 2 supply, such as intense exercise in
skeletal muscle cells and red blood cells, carbohydrate catabolism involves fermentation, and the
glucose is converted to lactate (lactic acid), which causes cell death if oxygen supply is interrupted.
DNA Replication
First, at the origin of replication helicase unwinds the strands and forms a small bubble.
Multiple origins are needed to ensure replication occurs as quickly as possible (in human cells there
are 6 billion base pairs all copied within a few hours). DNA polymerase then catalyses the addition of
new nucleotides in opposite directions on each strand (as the two strands are anti-parallel). Incoming
nucleotides have 3 phosphate groups, and 2Ps are released to provide energy for the reaction (as
those are high-energy bonds). DNA polymerase must have a 3 OH group to add on to, and hence will
move along the template strand from 35, producing a new growing strand and elongating it in the
53 direction (as the DNA polymerase can only exist at the 3 end). DNA synthesis cannot initiate
unless a primer (short piece of RNA that contains a 3 OH) to continue building off.
After a primer has been made in leading strand synthesis DNA polymerase III (which consists
of a sliding clamp ring and boxing glove) starts synthesising the leading strand right after the helicase
continues to unwind (otherwise it will join back) and forming a replication fork. However in the
lagging strand, as it moves in the opposite direction to the helicase (anti-parallel), it must do so in
small fragments, called Okazaki fragments. First, primase joins RNA nucleotides into a primer on the
template, then DNA polymerase III adds DNA nucleotides to the primer, forming Okazaki fragment 1,
then a new primer is added slightly before and the polymerase attaches to this once finishing its
fragment, forming a second fragment until it reaches the original primer and detaches. DNA
polymerase I replaces the RNA with DNA (by adding to the 3 end of fragment 2), then DNA ligase
forms a bond between fragment 2 and fragment 1.
Replicating the ends of chromosomes is difficult as there are no 3 OH ends to build off, and
hence with every
replication the 5 end
becomes shorter on the lagging
strand (but not on the
leading as it runs until the
end as thats a 3). To
counter this, telomeres are
sequences (10, 000 base pairs
at each end) produced by
telomerase (which also has
RNA within the enzyme, not
just amino acids, to
produce remaining base pair
sequence) extending the ends
of the sequences.
Telomerase in
inactivated in post-
embryonic cells (and many
cancers involve reactivating telomerase).
To treat disease, nucleotide analogues can be used. For example, thymidine (the nucleotide
with thymine) can be replaced with AZT, which swaps the OH group on the sugar for a triangle of
nitrogens, and hence no OH group is present for DNA polymerase to continue constructing off and
blocking DNA replication. This is how AIDS (HIV) is treated.
activating eye genes on a Drosophila larvae leg, the adult grew an eye on its leg. However as no
neurons connected it to the brain it was not functional.
The size of a genome varies amongst organisms, a more base pairs generally but doesnt always
mean more genes. Organism complexity doesnt necessarily determine how many genes you have (as
worms, water fleas and plants have more genes than a human, although most have fewer base pairs).
Humans have 20, 000 genes, with each gene having an average of 27, 000 base pairs (ranges from
1000 to 2.4 million). 99.9% of the genome is the same in all people. Genes are not evenly distributed
amongst chromosomes (chromosome 1 has 2968, Y has 231). The function of many genes is still
unknown.
Mutation
A mutation is a change in the nucleotide sequence of an organisms DNA, ultimately creating
genetic diversity. They can also occur in virus DNA or RNA. Mutations lead to diversity which is critical
to the survival of life. For example, the British Peppered Moth had a mutation resulting in some light,
some dark, which were better at camouflage in either lichen-covered trees or soot-covered industrial
areas during the Industrial Revolution of the mid-19 th C when pollution was being produced. They will
only be inherited in offspring if they occur in gametes.
Mutations can occur as:
point mutations (changes single base)
insertions
deletions
duplications of sequences
chromosomal rearrangements (like fusion, fission, inversion and translocation)
Mutations can be caused by:
errors in DNA replication (DNA polymerase makes 1 error in 10 5 bases, leading to
incorrect base-pairing, however DNA repair enzymes reduce this to 1 in 10 10)
mutagens
o chemicals (nicotine, asbestos, free radicals, oxidising agents, nucleotide
analogues) which damage DNA
o radiation (natural radiation like uranium, nuclear waste/bombs, medical X-rays,
UV - 20, 000 pyrimidine dimers (e.g. T-T)/hour/cell are caused at 12pm in
Sydneys Summer) which damages DNA
transposable DNA (jumping genes)
Damaged DNA (like the thymine dimers caused by UV -adjacent thymines that bend towards
each other through H-bonds - which causes DNA to buckle due to their pull towards each other and
hence interfere with replication) can be repaired to ensure transcription is not problematic and gene
expression occurs correctly. Repair is done using a nuclease enzyme that cuts the damaged DNA at two
point around the area of damage, and then this is removed. DNA polymerase then fills in the remaining
nucleotides (from the OH of the previous one), and DNA ligase seals this to the following strand.
Xeroderma pigmentosum (CP) is an inherited defect in a DNA damage repair enzyme, resulting
in individuals that are hypersensitive to sunlight (cant correct thymine dimers), which can result in
silencing tumour suppression genes and lead to skin cancer.
Most DNA changes are outside of genes, which often doesnt have any effect on the final result,
however there are many regulatory genes outside coding regions and hence they can still have large
effects on gene expression. These changes can have three outcomes within exons:
No effect - results in different codon that results in same amino acid
Missense - changes amino acid
Nonsense - changes amino acid to stop
Frameshift - insertion/deletion of amino acids not a multiple of three will change all amino
acids downstream (may introduce missense or nonsense); if it is a multiple of three, it is simply the
gain or loss of amino acids. This could result in changing the tertiary structure of the protein
depending on the side chain properties of the amino acid (charge, shape) and how different this is to
what it was before; otherwise there may be no change. Those that do change may lose some or all
functionality, or could gain a new activity. If the amino acid is where the substrate or cofactor binds it
will likely have a greater effect than if elsewhere on the protein.
Single base changes are the most common variants (~85%) un the human genome, and two
unrelated individuals have ~1 in 1000 base pairs that are difference (for a total of 3.2 million
differences). There are over 10, 000 gene defects in humans, most of which are rare but have multiple
variants. For example, Phenylketonuria (PKU) results in a defective phenylalanine hydroxylase, making
a person unable to convert phenylalanine into tyrosine, which can result in death by 30-40 years of
age. To avoid this, avoid foods with phenylalanine in them (people are screened at birth to check for
this). Cancer is also the result of genetic mutations, from either overstimulation or a lack of inhibition
of the cell cycle due to faulty proteins. The classic Irish/Scottish fair skin and hair (blonde or red)
results from a mutation in the Mcr1 gene, which results in sunburning instead of tanning and
increasing susceptibility to skin cancer. The most common genetic disorders are haemochromatosis
(too much iron absorption, 1 in 200), cystic fibrosis (Cl + imbalance, 1 in 400), thalassemia (reduced
production of haemoglobin, 1 in 25 in some areas) and sickle cell anaemia (haemoglobin variant with
one amino acid different (GAAGUA, GluVal), allows haemoglobin to form fibres and changes shape;
blocks blood flow but also protects against malaria - regions of high malaria are also regions of high
sickle-cell anaemia due to natural selection).
DNA viruses can correct mistakes that occur during their own replication, whilst some RNA
viruses cannot do so and make DNA copies of their genome using an error-prone polymerase which
generates mutants easily. HIV is one such virus, and as such can develop resistance to drugs rapidly.
Whether good or bad, mutations provide genetic variation for natural selection through
evolutionary fitness (the ability of an organism to survive to reproduction).
Mechanisms of Inheritance
Huntingtons disease (neural degeneration) is an example of an autosomal dominant (50% of
inheritance if one parent has it, affects both sons and daughters), whilst an X-linked recessive would
be haemophilia (which can only occur in XaXa (rare) or XaY, but never anyone with XA). Mitochondria
are maternally inherited organelles carrying their own genes, and an example of a disease is Kearns-
Sayre syndrome, which causes a short stature and retinal degeneration.
Occasionally homologous chromosomes dont separate during meiosis (non-disjunction),
resulting in n-1 or n+1 haploids and aneuploidy in the diploids (2n-1 or 2n+1 chromosomes). For
example, Down syndrome (trisomy-21), Klinefelter syndrome (XXY generally fairly normal, the
second X being turned off as if they were female producing a male), and Turner syndrome (monosomy
X severe in humans, not so much in mice).
Mendels second law of
independent assortment was
formulated without the knowledge that genes
occur on chromosomes, so if two genes are
near each other on the same
chromosome, the law breaks down
(evidenced by a dihybrid testcross of
drosophila producing a phenotypic ratio of
5:5:1:1 instead of 1:1:1:1).
Recombination is just the
rearrangement of genetic material,
particularly by crossing over or
artificial joining of DNA segments.
This ratio occurs because the
loci/genes are linked on the same
chromosome and the closer the loci, the
lower the chance of recombination. We can
reverse this (the fewer recombinants in a
testcross, the closer the genes), with the
percentage of offspring being
recombinants being the relative distance (in the above example 17%). The maximum recombination is
50% (after which point it is more likely the genes are on separate chromosomes and the
complementary percentage is the percentage of recombination). So a 0% chance of recombination
means recombinants are impossible, whilst 25% recombination would be 12.5% of each type of
recombinant (as there are two when looking at two genes), and 50% would be 25% (at which point it
is as likely as independence). This principle is used to map genes that cause disease in many species.
Incomplete dominance is when two alleles both contribute to the phenotype, like
codominance in Snapdragon (CR + CW = pink), and often occurs in multiple alleles like blood groups
(where IA and IB are codominant over io). However this is still not blended inheritance as they dont all
come out the same. In pleiotropy, one gene affects more than one trait (for example a gene may
encode a protein that forms part of more than one protein complex, or if homozygous for the recessive
sickle-cell allele then during low oxygen content red blood cells crystallise and become sickle-shaped,
causing the phenotypes anaemia, brain damage and spleen damage, all from the one gene). Epistasis
is the interaction of loci or dependence of one gene upon another (for example, enzyme pathways that
require one to happen before the other which can affect mouse colour (cc stay white, cannot become
brown, those with C become brown, and if bb stay brown but if they have a B then go black).
Environment can also influence phenotype, like hydrangeas that change colour depending on the
acidity of the soil (this is the reason monozygotic twins are not entirely identical physically).
Polygenic traits are those influence by many genes, each having a smaller effect on the phenotype and
producing a continuous scale, like height, weight, skin colour and learning ability. They are called
quantitative traits as they are measured on a scale rather than being binary (yes or no). Some traits
are called complex/multifactorial as they depend on many factors (like environment, epistasis,
polygenesis, etc.) and are difficult to map (like diabetes, heart disease, alcoholism).
Genes in Populations
Genetic variation comes from mutations, sexual reproduction (independent assortment and
random pairing) and recombination/crossing over. The gene pool is the collection of genes amongst
an entire population. Variation at a locus means there are at least two alleles, which may exist at
different allele frequencies (a proportion that can be studied over space (mapping sickle-cell
anaemia) and time).
The Hardy-Weinberg Law/Principle states that assuming you have an infinite population
size, no mutation and no migration, no natural selection and random mating, alleles have an equal
chance of survival, and hence will maintain their frequency throughout generations, unless an
assumption is not met.
In small populations, chance events lead to fluctuations in allele frequencies, with the smaller
the population the larger deviation from the law. This is called genetic drift (the changes in allele
frequencies due to chance events in small populations which can lead to the fixation (the only gene
left) of a particular gene). A bottlenecking event (drastically reduces size of surviving population
limits the gene pool, and hence makes them susceptible to further environmental changes). The
founder effect is when there is a high frequency of an allele in a small population that continues that
species elsewhere (essentially bottlenecking), such as Clinodactyly on the island of Tristan da Cunha,
where a small number of British troops who happened to have curved little fingers led to a high
frequency in the population.
In natural selection, some genotypes will have a higher probability of surviving due to their
higher fitness, and can lead to fixation in the population for fitter alleles, called adaptation. However
there is not always biological perfection, as in the case of the peacock whose long a brightly coloured
tailed makes it slower and easier to spot (whilst also being good at scaring predators), however its
primary advantage is that it makes it more attractive to mates, and this sexual selection has not
necessarily lead to a better fitness. Similarly, natural selection ahs lead to increased levels of sickle-cell
anaemia in some African countries as it is resistant to malaria, however also has negative effects upon
health. Adaptive evolution is also limited by historical constraints, like the epiglottis which chooses
lungs or stomach but can result in choking, or standing up in humans which can cause back problems.
Microbes also evolve to escape the immune system (those that arent recognise survive) or antibiotics
(by developing resistance).