F215 Module 1: Cellular Control and Variation

5.1.2 Meiosis and Variation

(a) describe, with aid of diagrams and photographs, the behaviour of the nuclear envelope, cell membrane
and centrioles (name of the main stages are expected but not the subdivisions of prophase)
Meiosis – is a reduction division. The resulting daughter cells have half the original number of chromosomes. They
are haploid and can be used for sexual reproduction.

To maintain the original chromosome number, the chromosome number in gametes needs to be halved. Thus when
two haploid gametes join at fertilisation, the resulting zygote is diploid.

Meiosis I
Prophase  Chromosomes condense and undergo
supercoiling – they shorten and thicken.
 Homologous chromosomes pair up
(synapsis) to form a bivalent.
 Non-sister chromatids attach at chiasmata –
they may swap sections of chromatids called
crossing over.
 Nucleolus disappears and the nuclear
envelope disintegrates.
 A spindle forms made of protein
microtubules.
Metaphase  Chromosomes arrange themselves randomly
(independent assortment of chromosomes)
on the equator of the spindle and attach to
the spindle fibres.
Anaphase  The homologous chromosomes in each
bivalent are pulled by the spindle fibres to
opposite poles.
Telophase  In animal cells, new nuclear envelopes form
and the cell divides by cytokinesis. There is a
brief interphase and the chromosomes
uncoil.
 In plant cells, the cell goes straight from
anaphase I into meiosis II – no telophase I.
Meiosis II
 Chromosomes condense and undergo
supercoiling – they shorten and thicken.
 Nucleolus disappears and the nuclear
envelope disintegrates again.
 The spindle reforms at right angles to the
previous spindle axis.
 Chromosomes arrange themselves randomly
(independent assortment of chromatids) on
the equator of the spindle and attach to the
spindle fibres.
 Centromeres divide.
 Chromatids are pulled by the spindle fibres to
opposite poles.
 Nuclear envelopes reform around the
haploid daughter nuclei.
 In animals, the two cells now divide to give
four haploid cells.
 In plants, a tetrad of four haploid cells is
formed.

What are homologous chromosomes?:

 Chromosomes are the same size.
 Chromosomes have the same position of centromere.
 Chromosomes carry the same genes at the same loci,
but different alleles – one maternal and one paternal.
 F215 Module 1: Cellular Control and Variation
(b) explain the terms:
Allele A version of a gene - there may be a difference in the base sequence that is expressed
as a slightly different polypeptide.
Locus The position of a gene on a chromosome. Alleles of a gene are found at the same locus
on each chromosome in a pair.
Phenotype The characteristics expressed in an organism – determined by the genotype and the
environment in which it has developed.
Genotype The genetic make-up of an organism – the alleles present within cells of an individual
for a particular trait/characteristic.
Dominant An allele that is always expressed in the phenotype, even if a different allele for the
same gene is present in the genotype, e.g. BB and Bb.
Codominant Two alleles of the same gene are described as codominant if they are both expressed
in the phenotype of a heterozygote – neither is recessive.
Recessive An allele that is only expressed in the phenotype in the absence of a dominant allele,
for the same gene, e.g. bb for blue eyes.
Gene A length of DNA that codes for one or more polypeptides.
Heterozygous An organism that carries two different alleles.
Homozygous Dominant An organism that carries two copies of the dominant allele.
Homozygous Recessive An organism that carries two copies of the recessive allele.

(c) explain the terms:

Linkage Refers to two or more genes that are located on the same chromosome. Genes for different
characteristics that are present at different loci on the same chromosome are linked. At
crossover, the alleles from one chromatid becomes linked to alleles on the other chromatid.
Linkage reduces the number of phenotypes resulting from a cross.
Crossing-over When lengths of DNA are swapped from one chromatid to another. This occurs during prophase I
and increases genetic variation.

(d) explain how meiosis and fertilisation can lead to variation through the independent assortment of alleles
Sexual reproduction increases genetic variation, as genetic material from cells of two organisms combine. Genetic
variation increases the chances of evolution as natural selection can favour the organisms that are best adapted to
the ever-changing environment.

Meiosis increase genetic variation by:

Crossing over during  On average, 2-3 cross-over events occur on each pair of human chromosomes.
prophase I  Non-sister chromatids wrap around each other very tightly and attach at chiasmata.
 The chromosomes may break at these points. The broken ends of the chromatids
rejoin to the ends of non-sister chromatids in the same bivalent, leading to similar
sections of non-sister chromatids being swapped over. These sections contain the
same genes, but often, different alleles.
Genetic reassortment  This reassortment is the consequence of the random distribution of maternal and
due to the random paternal chromosomes on the spindle equator at metaphase I, and the subsequent
distribution of segregation into two daughter nuclei at anaphase I.
chromosomes (meiosis  Each gamete acquires a different mixture of maternal and paternal chromosomes.
I)
Genetic reassortment  This reassortment is the result of the random distribution of sister chromatids on the
due to the random spindle equator at metaphase II.
distribution of  The crossing over means the sister chromatids are no longer genetically identical.
chromatids (meiosis II)  How they align at metaphase II determines how they segregate at anaphase II.
Random mutation  DNA mutation may occur during interphase when DNA replicates.
1. Insertion/deletion mutations –one of more nucleotide pairs are inserted or
 F215 Module 1: Cellular Control and Variation
deleted from a length of DNA, causing a frameshift – the amino acid sequence is
altered after the insertion/deletion point.
2. Point mutations/Substitution – one base pair replaces another.
 Nonsense – introduces a premature stop codon, stopping translation early,
giving a truncated polypeptide.
 Missense – changes the codon, changing the amino acid produced, so there is
a change in the tertiary structure.
 Silent – changes the codon, but the amino acid produced is not changed, so
the amino acid sequence remains the same.
 Chromosome mutations may also occur.

(e) use genetic diagrams to solve problems involving sex linkage and codominance
Sex Linkage:
Heterosomes – the sex chromosomes.
Autosomes – the other chromosomes that are not the sex chromosomes.
Heterogametic sex – 2 chromosomes that are different, e.g. XY, they are species dependent.
Homogametic sex – 2 chromosomes that are the same, e.g. XX, they are species dependent.

The Y chromosome is smaller than the X chromosome and carries fewer genes. A
gene on the X chromosome in the non-homologous region will be expressed in
the phenotype, as there is no allele for the characteristic on the Y chromosome.
Sex-linked characteristics include haemophilia (A and B), red-green colour
blindness and Duchenne muscular dystrophy.

A protein, factor VIII, is coded for by a gene on the X chromosome which helps
blood to clot. Haemophilia is caused by recessive allele, which expresses an
altered protein that does not function. This leads to an increase in blood-clotting time. Internal bleeding, resulting
from knocks, and bleeding into joints are particularly harmful.

H – dominance allele for production of factor VIII.

h – recessive allele for non-production of factor VIII.
These alleles are linked to the X chromosome, they are represented as XH and Xh. There is no equivalent allele on the
Y chromosome. Males always inherit the disease from their mother, since their X chromosomes comes from their
mothers.

Codominance:
Alleles are codominant if they both contribute to the phenotype. One of
the genes for coat colour in shorthorn cattle has two alleles: CR codes for
red hairs and CW codes for white hairs.
 Homozygous individuals with genotype CRCR have red coats.
 Homozygous individuals with genotype CWCW have white coats.
 Heterozygous individuals with genotype CRCW have red and
white hairs – roan coat.
(f) describe the interactions between loci (epistasis)
(g) predict phenotypic ratios in problems involving epistasis
 F215 Module 1: Cellular Control and Variation
Epistasis – the interaction of different gene loci so that one gene locus masks or supresses the expression of
another gene locus, reducing phenotypic variation. The genes may work against each other resulting in masking, or
may work together in a complementary fashion.

Recessive The homozygous presence of a recessive allele may prevent the expression of another allele at a
Epistasis second locus – the alleles at the first locus are epistatic to the alleles at the second locus.

9:3:4 Example: Flower colour in Salvia, involving two gene loci A/a
and B/b, on different chromosomes. A pink flower, genotype
AAbb, was crossed with a white flower, genotype aaBB. All
the F1 generation had purple flowers, genotype AaBb.
Interbreeding the F1 to give the F2 generation resulted in
purple, pink and white flowers in the ratio 9:3:4. The
homozygous aa is epistatic to both alleles of the gene B/b.
Neither the allele, B, for purple not the allele, b, for pink can
be expressed if there is no dominant allele, A, present.
Dominant When the presence of a dominant allele at one gene locus masks the expression of the alleles at a
Epistasis second gene locus.

12:3:1 or 13:3 Example: Fruit colour in summer squash, involving two gene
loci D/d and E/e. The presence of one D allele results in
white fruits, regardless of the alleles present at the second
locus (E/e). In homozygous dd individuals, the presence of
one E allele produces yellow fruit and the presence of two e
alleles produces green fruits. If two white-coloured, double
heterozygotes (DdEe) are crossed, the offspring are 12 white
(D-E- or D-ee), 3 yellow (ddE-) and 1 green (ddee).

Example: Feather colour in chickens, involving the two gene

loci I/I and C/c. Individuals carrying the dominant allele, I,
have white feathers, even if they also have the dominant
allele, C, for coloured feathers. Birds that are homozygous
for c (IIcc, Iicc, iicc) are also white. Crossbreeding an
individual with the genotype IICC and an individual with the
genotype iicc, gives the F1 generation all white feathers
(IiCc). Interbreeding the F1 to give the F2 generation results
13 white feathered and 3 coloured chickens.
In a Two gene loci may work in a complementary fashion.
Complementary
Fashion Example: Flower colour of sweet peas. The white-flowered
sweet peas with genotypes ccRR and CCrr were crossed.
9:7 Unexpectedly, all the F1 plants had purple flowers.
Interbreeding the F1 to give the F2 generation resulted in 9
purple flowers and 7 white flowers. The explanation suggests
that at least one dominant allele for both gene loci (C-R-) has
to be present for flowers to be purple – all other genotype
combinations produce white flowers (e.g. ccR-, C-rr). This
because the homozygous recessive condition at either locus masks the expression of the
dominant allele at the other locus.

The gene loci must complement each other – if one gene codes for an intermediate colourless
pigment and the second locus codes for an enzyme that converts the intermediate compound to
the final purple pigment.
(h) use the chi-squared (x2) test to test the significance of the difference between observed and expected
results
 F215 Module 1: Cellular Control and Variation
The chi-squared (x2) test – a statistical test to find out if the difference between observed categorical data and
expected data is small enough to be due to chance. The test can be used if:
 The sample size is large, i.e. over 20.
 The data must be in discrete groups, i.e. show discontinuous variation.
 Only raw counts and not rates, percentages or ratios can be used.

The chi-squared measures the statistical validity between the expected and the observed results and decides
whether or not there is a significant difference between them. It tests the null hypothesis, which is based on the
assumption that ‘there is no (statistically) significant difference between the observed and expected numbers, and
any difference is due to chance”.

If the x2 value is less than the critical value = ACCEPT the null hypothesis – any
2
Σ (𝑂 − 𝐸)2 difference is due to chance is not significant.
𝑥 =
𝐸 If the x2 value is greater than the critical value = REJECT the null hypothesis – the
difference is not due to chance and is significant.

(i) describe the differences between continuous and discontinuous variation

(j) explain the basis of continuous and discontinuous variation by reference to the number of genes which
influence the variation
Continuous Discontinuous
Example: body mass, height Example: blood group, gender
Quantitative differences between phenotypes. Qualitative differences between phenotypes.
No distinct categories. Distinct categories – no intermediate categories.
Strongly affected by the environment. Unaffected by the environment.
Controlled by two or more genes (polygenes) – Controlled by one gene – monogenic.
polygenic.
Different alleles at each gene locus have a small effect on Different gene loci have different effects on the
the phenotype. phenotype.
Wide range of variation.
If more than one gene – genes interact in an epistatic
way.

(k) explain that both genotype and the environment contribute to phenotypic variation
An organism can inherit successful genes giving them genetic potential. However, environmental factors may limit
the expression of the genes. For example, a plant could have the genetic potential to produce ears of grain of length
12cm. However, some plants may not produce such long ears, due to environmental factors such as shortage of
water, light or minerals. The expression of polygenic traits is influenced more by the environment than the
expression of monogenic traits.

(l) explain why variation is essential in selection

Selection – the process in which the best adapted individuals in a population in a population survive to breed and
pass on their favourable alleles to the next generation.
Selection Pressure – an environmental factor that confers greater chances of survival to reproductive age on some
members of the population, e.g. competition for food and space, the need for light, oxygen and water, climate
change, predation, disease, etc.

Whether the environment (natural selection) or humans (artificial selection) are doing the selecting, genetic
(inheritability) variety within the population is necessary.
 Genetic variation is caused by spontaneous mutation, due to sexual reproduction.
 The selection pressure causes some individuals to have a selective advantage over the others.
 They are more likely to survive and pass on their allele to their offspring, causing an increase in allele frequency.

(m) use the Hardy-Weinberg principle to calculate allele frequencies in populations

Population – the number of individuals of the same species that can reproduce to produce fertile offspring.
 F215 Module 1: Cellular Control and Variation
Gene pool – the set of genetic information carried by a population.

Population genetics looks at allele frequencies in populations.

The mathematical relationship between the frequencies of alleles and genotypes in a population is known as the
Hardy-Weinberg principle and states “the frequency of the dominant and recessive alleles in a population will
remain constant from generation to generation provided certain conditions exist”. These conditions are:
 The population is very large – eliminates sampling error.
 Mating is random.
 No mutations, migration (emigration, immigration).
 There’s no selective advantage for any genotype – all genotypes are equally fertile.

The genotype frequency is 𝑝2 + 2𝑝𝑞 + 𝑞 2 = 1

Where 𝑝2 represents the frequency of the homozygous dominant genotype, 𝑞 2 represents the frequency of the
homozygous recessive genotype, and 2𝑝𝑞 represents the frequency of the heterozygous genotype.

The allele frequency is 𝑝 + 𝑞 = 1

Where 𝑝 represents the frequency of the dominant allele, and 𝑞 represents the frequency of the recessive allele.

Within the population, the frequency of the genotypes and the frequency of the alleles adds up to 1 or 100%.

Example: In a population of 100 individuals, 36 are MM, 48 are MN and 16 are NN. Find the frequency of the N
alleles.
The 36 MM individuals represent 72 M alleles.
The 48 MN individuals hold another 48 M alleles.
So out of a total of 200 alleles in this population, 120 are M (72+48).
So the frequency of M in the population is 120/200 = 0.6
As the frequency of M + N = 1, the frequency of N alleles is 1-0.6 = 0.4

Example: Albinism is a recessive condition – a person must possess the homozygous recessive genotype to be a
sufferer. One person in 10,000 is albino. What is the frequency of the homozygous dominant genotype in the
population?
1
𝑞2 = √ = 0.0001
10000
𝑞 = √0.0001 = 0.01
𝑝 = 1 − 0.01 = 0.99
𝑝2 = 0.992 = 0.9801

(n) explain, with examples, how environmental factors can act as stabilising or evolutionary forces of natural
selection
Many populations increase their size until their carrying capacity is
reached and then remain stable. Therefore, not all the young produced
survive to adulthood. The environmental factors environmental
resistance. Some are abiotic (availability of water, oxygen and light and
the presence of toxins/pollutants) or biotic (availability of food,
predators or parasites, disease and space for plants to grow, or for
animals to defend a feeding territory and to rear young).

Over a period of time, the population size will fluctuate around the
carrying capacity. If environmental resistance is great enough, the population size will shrink. This reduces
competition and the population will grow. As it increases, there will be more intraspecific competition for resources
such as food, shelter and mates, so the population size falls again.
Types of Selection:
Stabilising Directional Disruptive
 F215 Module 1: Cellular Control and Variation
 Favours intermediate phenotypic
features.
 When phenotypic features
coincide with optimum
environmental conditions.
 Tends to eliminate extremes
from the population.
 Does not promote evolutionary
change.
 Maintains phenotypic stability.
 e.g. birth weight of babies.
 Favours one phenotype at one
extreme of the range of
variation.
 Moves the mean phenotype
towards one phenotypic
extreme.
 Brings about evolutionary
change by producing a selection
pressure which favours the
increase in frequency of new
alleles in the population –
evolutionary force.
 e.g. antibiotic resistance in
bacteria.
 Rarest form of selection but
important in bringing about
evolutionary change.
 Fluctuating conditions within an
environment may favour the
presence of more than one
phenotype.
 Selection pressures may push
the phenotypes away from the
population means towards the
extremes of the population –
split into two subdivisions.
 e.g. colour and banding in Cepea
nemoralis.

(o) explain how genetic drift can cause large changes in small populations
Genetic Drift – when the allele frequency of a population may change by chance, as some alleles pass to the next
generation and some disappear.

In large populations, there would be small changes in allele frequency. In smaller populations, the degree of
fluctuation would increase. Such fluctuations or changes in allele frequency are called genetic drift. In extreme cases,
genetic drift may leads to the chance elimination of one allele from the population. It reduces genetic variation and
may reduce the ability of a population to survive in a new environment. It could contribute to the extinction of a
population or species or it could lead to the production of a new species.

(p) explain the role of isolating mechanisms in the evolution of new species, with reference to ecological
(geographic), seasonal (temporal) and reproductive mechanisms
A large population of organisms may be split into sub-groups by various isolating mechanisms. This leaves two sub-
populations, isolated from each other. In each case different alleles will be eliminated or increased within sub-
population. Eventually the sub-populations will not be able to interbreed and will be different species.
Ecological (Geographic) Seasonal (Temporal) Reproductive
When two populations occupy two When two or more species or When the reproductive structures
different environments, which are populations live within the same are physically incompatible, e.g. a
separated by a physical barrier, e.g. area but are reproductively active at Great Dane and Chihuahua.
mountain range, river, etc. different times.

(q) explain the significance of the various concepts of the species, with reference to the biological species
concept and the phylogenetic (cladistics/evolutionary) species concept
Species – the starting point in the classification of living.
 F215 Module 1: Cellular Control and Variation
The Biological Species Concept:
Biology species concept – a group of similar organism that can interbreed and produce fertile offspring is
reproductively isolated from other such groups.

It’s difficult to classify those living organisms that do not reproduce sexually. Also some members of the same
species may look very different from each other. In some species the males look very different from the females.
Some isolated populations may appear to be very different from each other.

The Phylogenetic Species Concept:

Phylogenetic species concept – a group of organisms that have similar morphology (shape), physiology
(biochemistry), embryology (stages of development) and behaviour, and occupy the same ecological niche (their role
within an ecosystem).
Monophyletic group – one that includes an ancestral organism and all its descendent species.

Closely related organisms have similar molecular structures of DNA, RNA and proteins. Improved DNA sequencing
has allowed comparison of base sequences (haplotypes) on chromosomes of specific organisms. Analysis of the base
pair sequence is carried out and the differences, caused by base substitutions, are expressed as % divergence.
𝑛𝑢𝑚𝑏𝑒𝑟 𝑜𝑓 𝑠𝑢𝑏𝑠𝑡𝑢𝑡𝑖𝑜𝑛𝑠
% 𝑑𝑖𝑣𝑒𝑟𝑔𝑒𝑛𝑐𝑒 = × 100
𝑛𝑢𝑚𝑏𝑒𝑟 𝑜𝑓 𝑏𝑎𝑠𝑒 𝑝𝑎𝑖𝑟𝑠 𝑎𝑛𝑎𝑙𝑦𝑠𝑒𝑑

Any organisms with haplotypes that are more similar to each other than to those in any other group is called a clade.
Hence the use of the molecular systematics (analytics) is a cladistic approach to classification. It assumes that
classification of living organisms corresponds to their phylogenetic descent and that all valid taxa (groups) must be
monophyletic.

Clade – a taxonomic group compromising a single ancestral organism and all its descendants – also described as a
monophyletic group.
Cladistics – the hierarchical classification of species, based on their evolutionary ancestry.
 Focuses on evolution (phylogenetic relationships), rather than
on similarities between species.
 Places great importance on using objective and quantitative
(molecular) analysis.
 Uses DNA and RNA sequencing.
 Uses computer programmes and the data obtained from nucleic
acid sequencing to generate dendrograms/cladograms that
represent the evolutionary tree of life.
 Makes no distinction between extinct and extant species and
both may be included on cladograms.

(r) compare and contrast natural selection and artificial selection

Natural Selection Artificial Selection

Natural selection is a mechanism for evolution.
 Genetic variation is caused by spontaneous
mutation, due to sexual reproduction.
 The selection pressure causes some individuals to
have a selective advantage over the others.
 They are more likely to survive and pass on their
allele to their offspring, causing an increase in allele
frequency.
(s) describe how artificial selection has been used to produce the modern dairy cow and to produce bread
wheat (Triticum aestivum)
In artificial selection:
 Humans select the organisms with useful
characteristics.
 Humans allow those with these useful characteristics
to breed and prevent the ones without the
characteristics from breeding.
 Thus, humans have a significant effect upon the
evolution of these populations of species.
 F215 Module 1: Cellular Control and Variation
Dairy Cows:
The original wild cattle, which were first domesticated, are thought to have
looked like the modern Chillingham White cattle. By repeatedly selecting
cows with high milk yields and allowing them to breed over many
generations, humans have artificially selected improved breeds with higher
milk production. Today, breeders still practise artificial selection.
1. Each cow’s milk yield is measured and recorded.
2. The progeny of bulls is tested to find which bulls have produced
daughters with high milk yields.
3. Only a few good-quality bulls need to be kept as the semen from one
bull can be collected and used to artificially inseminate many cows.
4. Some elite cows are given the hormones so they produce many eggs.
5. The eggs are fertilised in vitro and the embryos are implanted into
surrogate mothers.
6. These embryos can be cloned and divided into many more identical embryos.

Bread Wheat (Triticum aestivum):

Most wild species of wheat are diploid with 14 chromosomes
(n=7). Grasses, like many other domesticated plants, are able to
undergo polyploidy – their nuclei can contain more than one set of
chromosomes. Modern bread wheat is hexaploid, 6n, having 42
chromosomes in the nucleus of each cell. Genetic analysis of
modern species of domesticated wheat has shown that it is a
hybrid containing three distinct genomes, AUAUBBDD.
 AUAU – from a wild wheat species, such as T. urartu.
 BB – from wild emmer wheat, T. turgidum (a tetraploid,
4n, species thought to be a hybrid of T. uratu and a wild goat grass
like Ae. speltoides.)
 DD – from a wild goat grass such as Ae. tauschii or Ae.
squarrosa.

Wheat is a very important crop. It can grow in large areas of the

world and makes up 33% of all cereal crops. Breeders continue to
carry out selection programmes to produce improved varieties.
The focused characteristics include resistance to fungal infections,
high protein content, straw (stem) stiffness, resistance to lodging
(stems bending over in wind and rain) and increased yield.

Each year, in the UK, the Camden and Chorleywood Food Research Association (C&CFRA), formerly The Flour Milling
and Baking Research Association, surveys the wheat varieties grown in the UK and classifies them according to their
suitability for making bread or biscuits or for use in animal feed.