Unit 4: Summary of AO1 content

3.4.1 DNA, genes and chromosomes

Topic / AO1
Sub-topic
Gene A gene is a base sequence of DNA that codes for:
• The amino acid sequence of one polypeptide
• A functional RNA molecule (including rRNA & tRNA)
Allele A different version of a particular gene
Locus The position of a gene on a chromosome/DNA molecule
Genetic code A sequence of 3 DNA bases (a triplet) codes for a specific amino
acid – known as the triplet code. The genetic code is:
• Non-overlapping- Each base is only part of one triplet
• Degenerate- More than one triplet can code for the same
amino acid
• Universal- A specific triplet codes for the same amino acid
in all organisms
Non-coding In eukaryotes, much of the nuclear DNA does not code for
DNA polypeptides
• Introns are non-coding sequences of DNA within a gene
• Exons are the sequences within a gene that code for amino
acid sequences/polypeptides
• There are also non-coding, multiple repeats of base
sequences between genes
Prokaryotic In prokaryotic cells, DNA molecules are:
DNA • Short, and do not contain introns
• Circular
• Not associated with proteins (histones)
Eukaryotic DNA • In eukaryotic cells, DNA molecules are found in the nucleus.
The nuclear DNA molecules are:
• Very long, and contain introns
• Linear
• Associated with proteins called histones
Together a linear DNA molecule and its associated proteins
form a chromosome
• Mitochondria & chloroplasts also contain DNA. This DNA is like
that of prokaryotes (short, circular and not associated with
proteins)

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3.4.2 DNA and protein synthesis

Topic / AO1
Sub-topic
Genome The complete set of genes in a cell/organism
Proteome The full range of proteins that a cell is able to produce
Messenger RNA • Linear, single stranded molecules
(mRNA) • Longer than tRNA
• Contain triplets of bases known as codons
• Found in the nucleus & cytoplasm
• Made by transcription
• Carry a copy of a gene from the nucleus to a ribosome
• Each codon codes for one amino acid (during translation)
Transfer RNA • Single stranded molecules
(tRNA) • “Cloverleaf” shape - folds due to hydrogen bonding between
complementary bases within its structure
• Contains an amino acid binding site
• Contains triplets of bases called anticodons
• Found in the cytoplasm (but made in the nucleus)
• tRNA molecules transfer specific amino acids to ribosomes
during translation
• Anticodons are complementary to specific mRNA codons
Ribosomal RNA • Together with proteins, rRNA makes up ribosomes
(rRNA) • mRNA and tRNA bind to ribosomes during translation
Transcription The production of mRNA from DNA. It involves these steps:
• The hydrogen bonds between complementary DNA
bases are broken, separating the two strands of DNA
• One strand of the DNA acts as the template strand
• Free RNA nucleotides are found in the nucleus. They
are attracted to the exposed DNA bases on the DNA
template strand and align by complementary base
pairing
• RNA polymerase join RNA nucleotides via
phosphodiester bonds
In eukaryotes, transcription occurs in the nucleus and results in
the production of pre-mRNA
In prokaryotes, transcription occurs in the cytoplasm and results
directly in the production of mRNA from DNA
Splicing of pre- In eukaryotes pre-mRNA is spliced to form mRNA:
mRNA • Non-coding introns are removed
• The remaining exons are joined together
After splicing, mRNA leaves the nucleus via nuclear pores

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 Unit 4: Summary of AO1 content

Translation The production of polypeptides from the sequence of codons

carried by mRNA. It involves these steps:
• mRNA attaches to a ribosome
• tRNA molecules bind to specific amino acids in the
cytoplasm, using ATP
• Each tRNA brings a specific amino acid to ribosome
• tRNA anticodons bind to mRNA codons by
complementary base pairing
• 2 tRNA molecules are held together at a ribosome at any
one time
• A peptide bond forms between adjacent amino acids. This
requires the use of ATP and enzyme catalysis
• tRNA molecules are released after their amino acids have
been joined to the growing polypeptide chain
• The ribosome moves along the mRNA forming the
polypeptide until a stop codon is reached, at which point
the ribosome and mRNA dissociate

Terms for • DNA – triplet

sequences of 3 • mRNA – codon
bases • tRNA – anti-codon

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3.4.3 Genetic diversity can arise as a result of mutation or during meiosis

Topic / AO1
Sub-topic
Causes of • Mutations
genetic • Meiosis
variation • Random fusion of gametes during fertilisation
• Gene mutations involve a change in the sequence of DNA
Gene bases in a gene
mutations can • This will change the sequence of bases in the mRNA that is
lead to transcribed.
production of • This may change the sequence of amino acids in the protein
non- • This change in the primary structure of the protein causes a
functional change in the tertiary structure, as hydrogen, ionic and
proteins disulphide bonds form in different places
• This can lead to a loss of function of the protein
Addition/insertion or Deletion – an extra base is added or removed
Types of gene in the sequence.
mutation • This causes a frame shift – all subsequent triplets will change
Substitution– one base is swapped for another. 3 possible
consequences:
• One of the amino acids in the polypeptide could change
• Could result in the formation of a stop codon
• It could cause no difference to the amino acid sequence
due to the degenerate nature of the genetic code.
Chromosome Changes in the number of chromosomes can occur due to
mutations chromosome non-disjunction during meiosis
• Mutations occur spontaneously during DNA replication
Causes of • Mutagenic agents / mutagens can increase the rate of gene mutation.
mutation These can be:
o Ionising or high-energy radiation (e.g. X-rays/UV light)
o Chemicals (e.g. tobacco tar)
o Viruses (e.g. HPV)
Meiosis • Involves two nuclear divisions, resulting in the formation of four
daughter cells
• Diploid parent cell forms haploid daughter cells
• Produces daughter cells that are genetically different from each
other. Variation arises due to:
• Independent segregation (or random assortment) of
homologous chromosomes, resulting in different combinations
of maternal and paternal chromosomes in the gametes
• Crossing over between homologous chromosomes, resulting
in new combinations of alleles in the gametes – genetic
recombination

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 Unit 4: Summary of AO1 content

3.4.4 Genetic diversity and adaptation

Topic / AO1
Sub-topic
Genetic diversity The number of different alleles of genes in a population
Natural Genetic diversity is a factor enabling natural selection to occur.
Selection The principles of natural selection are:

• There is variation in a population

• Random mutations give rise to new alleles of a gene
• Many mutations are harmful but, in certain environments,
the new allele of a gene might be beneficial
• Organisms with the advantageous allele will have a
phenotype that give them a selective advantage in their
environment
• These organisms will be more likely to survive to
reproduce, or at least have more offspring, than others
• The advantageous alleles are inherited by the next
generation
• Over many generations there will be an increase in
frequency of the advantageous allele in the population

Natural selection results in the evolution of populations, and in

species that are better adapted to their environment.
Adaptations may be:

•Anatomical – physical appearance (e.g. camouflage)

•Physiological – how the body functions (e.g. different
haemoglobins)
• Behavioural – how the organism acts/behaves (e.g.
courtship)
Types of natural Directional selection
selection • Directional selection acts against one of the extremes of a
phenotype and selects the other
• Results in the mode shifting towards the favoured extreme
• Example: antibiotic resistance in bacteria

Stabilising selection
• Acts against both the extremes in a range of phenotypes
• It favours the middle/ intermediate phenotypes
• Mode stays the same
• Acts to prevent change and occurs in environments that
remain relatively stable
• Example: human birth weight

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3.4.5 Species and taxonomy

Topic / AO1
Sub-topic
Taxonomy • The science of classification
• Organisms are put into groups, or taxons, based on similarities
Hierarchical Hierarchical means:
taxonomy • Smaller groups within larger groups
• No overlap between groups
Taxonomic The largest groups (taxa) are known as domains. Each of these
ranks contains smaller groups called kingdoms, which in turn contain
smaller groups, etc. The order of ranks is:

• Domain
• Kingdom
• Phylum
• Class
• Order
• Family
• Genus
• Species
Phylogenetic Phylogenetic means:
taxonomy • Based on the evolutionary history of organisms, i.e. their
common ancestry
Phylogenetic diagrams/trees can be used to represent
relationships between different groups:
• Branches represent divergence from a common ancestor
• The more recently that groups diverge, the more recently
they share a common ancestor and are more closely
related
Species • A group of organisms with similar characteristics that can
interbreed to produce fertile offspring
• Each species is identified by a binomial term consisting of
the name of its genus and species, e.g. Homo sapiens
Courtship Courtship behaviour is a necessary precursor to successful mating.
behaviour It is important for:
• Species recognition
• Synchronising reproductive behaviour, e.g. for the male to
establish whether the female is fertile or sexually mature
• Stimulation of production/release of gametes
• Formation of a pair bond

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3.4.6 Biodiversity within a community

Topic / AO1
Sub-topic
Habitat The place where an organism lives, e.g. pond or rocky shore
Community All the organisms of different species/populations in a habitat
Biodiversity • The variety (of organisms) in a community/habitat
• Biodiversity can relate to a range of habitats, from a small
local habitat to the Earth
• Encompasses genetic diversity and species diversity
Species richness A measure of the number of different species in a community
Species Diversity The number of species in a habitat/area and their relative
abundance
Species diversity This describes the relationship between:
index • the number of different species present in a community
• the number of individuals in each species

Diversity index (d) can be calculated from the formula:

Where:
N = total number of organisms of all species
n = total number of organisms of each species
Impact of Farming techniques reduce biodiversity, because:
agriculture on
biodiversity • Fewer plant species
• Just one crop species may be grown (monoculture) and
weeds removed/killed by herbicides
• This leads to a lower variety of food sources and fewer
habitats/ niches for animals
• So fewer animal species
• Use of pesticides to kill pests will reduce diversity of
many insect species
• Therefore low species diversity in the fields

Conservation There needs to be a balance between conservation )of

and farming biodiversity) and farming (needed to provide food for humans)

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3.4.7 Investigating diversity

Topic / AO1
Sub-topic
Investigating • Genetic diversity within, or between, species can be made by
Diversity comparing:

• The frequency of measurable or observable characteristics

• The base sequence of DNA
• The base sequence of mRNA
• The amino acid sequence of the proteins encoded by DNA
and mRNA

• The more similar the base (or amino acid) sequences, the more
closely related the organisms – they share a more recent
common ancestor

• Gene technology now allows direct investigation of DNA

sequences. This has replaced the use of characteristics to infer
similarities and differences

Random • Random sampling ensures that there is no bias and that the
sampling data will be representative
• A grid is laid out across the sample area, e.g. using tape
measures
• Random numbers are generated using a random number
generator (e.g. on a calculator) or random number table to
provide coordinates on the grid
• These are the sample points where a quadrat is placed
• The abundance of organisms in the quadrat can be measured
• A large number of quadrats should be used (e.g. 20) to ensure
that the data is representative

Standard • The spread of data about the mean

deviations • If standard deviations of two samples overlap there is no
significant difference between the two means- any
difference is likely to be just due to chance
• If there is no overlap of standard deviations, the difference is
likely to be significant, and not due to chance.