3.

1 In the beginning

Dr. M. Olympiou

AS/A level Biology - A

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Specification points:
• 3.1 Know that all living organisms are made of cells, sharing some common
features
• 3.2 Know the ultrastructure of eukaryotic cells
• 3.3 Understand the role of the rough endoplasmic reticulum (rER) and the
Golgi apparatus
• 3.4 Know the ultrastructure of prokaryotic cells
• 3.5 Be able to recognise the organelles in 3.2 from electron microscope
(EM)images.

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Prokaryotes Vs Eukaryotes
• All organisms are made of cells
• 2 types of cells:  Prokaryotic cells
 Eukaryotic cells

• Prokaryotes: organisms whose cells lack a cell nucleus, mitochondria or any

other membrane bound organelles; e.g. bacterial and cyanobacteria
(photosynthetic bacteria)
• Most prokaryotes are extremely small with diameters between 0.5 and 5μm.
• Their DNA is not associated with any proteins and lies free in the cytoplasm
• A cell wall is always present in prokaryotic cells
• Prokaryotes do not have mitochondria - they produce ATP in the same way
mitochondria do however they use an oxidation machinery found in the plasma 3
Prokaryotic cell structure

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Pili Thin protein tubes which allow bacteria to stick to surfaces. Not found in all bacteria

Ribosome Translate mRNA. They are smaller (70S) than eukaryotic ribosomes (80S)
Circular DNA Single circular length of DNA. Folded in a region known as nucleoid
Cell wall Made from peptidoglycan, a polymer of a sugar (-glycan) and a polypeptide
(peptido-)
Mesosomes In-foldings thought to be site of respiration. Scientists now believe they are
artefacts produced by the techniques used to prepare samples for electron
microscopy. They don’t exist!
Plasmids Double stranded DNA in a circular structure. Contain genes that aid the bacterium’s
survival i.e. genes for antibiotic resistance
Capsule Slimy layer for protection and to prevent dehydration
Flagellum Hollow cylindrical thread like structure that helps in the movement.
Not found in all bacteria.
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Eukaryotes
Eukaryotes: organisms whose cells have a nucleus and membrane bound organelles are called eukaryotes
larger than prokaryotes: 20μm or more in diameter

Centrioles rER (rough

endoplasmic
reticulum)

Cell
membrane

Nucleolus
Nucleus

Golgi apparatus

Ribosomes (80S) lysosome

mitochondria
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Organelles in Eukaryotic cells
Organelle Structure Function
Nucleus • Surrounded by a double membrane forming • Contains the genetic material of the cell to
the nuclear envelope control cellular activities
• Membrane has nuclear pores • Where transcription takes place in order to
mRNA to be produced
• Contains chromosomes (DNA) and a
nucleolus

Rough Endoplasmic • flattened network of sacs • Proteins made on these ribosomes are
Reticulum (rER) transported through the ER to other parts
• Ribosomes attached on the outer surface
of the cell

Smooth Endoplasmic • Like rER • Involved in the synthesis and transport of

Reticulum (sER) • Not covered with ribosomes fatty molecules (steroids and lipids)
• Single tubular sacs

Golgi apparatus (wifi • Series of curved single sacs which are of • Modifies proteins and packages them in
shape) decreasing size vesicles for transport
• Surrounded by many vesicles

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 Organelle Structure Function
Centrioles • Pair of hollow cylinders made up of microtubules • Involved in the spindle formation during
(polymers of globular proteins arranged in a helix nuclear division in animal cells
to form a hallow tube)

Mitochondria • Rod-shaped structures surrounded by a double • For aerobic respiration for the production
membrane of ATP
• Inner membrane folded to form finger-like
projections called cristae

Ribosomes (80S) • Made of two subunits (large and small) and • Site of protein synthesis (translation)
consists of rRNA and protein
• Attached to ER

Nucleolus • Darkly stained region in the nucleus • Where ribosomes are made
• Contains dense DNA and some proteins

Lysosomes • Small spherical sacs • Contain hydrolytic (digestive) enzymes

• Surrounded by a single membrane, filled with
hydrolytic enzymes

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Mitochondria and chloroplasts theories of evolution
• Endosymbiotic hypothesis: mitochondria were originally prokaryotic cells
which became endosymbionts living inside the eukaryote (for protection)

• Autogeneous hypothesis: mitochondria were born by splitting off a portion of

DNA from the nucleus of the eukaryotic cell at the time of divergence with the
prokaryotes; this DNA portion would have been enclosed by membranes.
Since mitochondria have many features in common with bacteria, the
endosymbiotic hypothesis is more widely accepted

• Note: to this day, both chloroplasts and mitochondria contain their own DNA,
separate from the DNA of the cells they inhabit, they can no longer replicate
themselves independently and rely partly on enzymes made by their hosts
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The production of proteins and their route through the cell

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Role of rER, Golgi and vesicles in the formation and
transport of proteins
• Proteins made on the ribosomes enter the rER
• As the proteins move through the rER they are folded into their 3D shape
• Vesicles with proteins pinch off the rER and fuse to form the Golgi apparatus
• In the Golgi apparatus proteins are modified and packaged into (secretory)
vesicles
• Vesicles pinch off the Golgi apparatus and fuse with the cell membrane
releasing the proteins with exocytosis

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Gametes
Specification points:
• 3.6 Understand how mammalian gametes are specialised for their functions
• 3.7 Know the process of fertilisation in mammals, including the acrosome
reaction, the cortical reaction and the fusion of nuclei.
• 3.8 i) Know that a locus (loci) is the location of genes on a chromosome.
• 3. 8ii) Understand the linkage of genes on a chromosome and sex linkage.
• 3.9 Understand the role of meiosis in ensuring genetic variation through the
independent assortment of chromosomes and crossing over of alleles
between chromatids

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Mammalian Gametes
• Formed in special sex organs

• Testes  sperm
• Ovaries  ovum / egg cell

• Both are specialised to carry out their function

• Both have 23 chromosomes so at fertilization the full diploid number (46) is restored

How are gametes formed?

• When gametes are formed chromosomes need to be halved i.e. reduction division occurs
• By MEIOSIS
• Meiosis is the basis of variation that allows species to evolve

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Ova: few, fat, fixed
• A large cell incapable of independent movement
• Wafted along one of the oviducts from the ovary to the uterus by ciliated cells lining the tubes and by muscular contractions
of the tubes

Cytoplasm
Contains protein To stop more than one sperm
and lipid food fertilising the egg.
reserves for a Changes charge to repel other
developing embryo sperm entering.

Proteins and lipids are used

as food reserves for the developing
Cortical granules embryo
these contain
substances that help
stop more than one
sperm fertilising the egg
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Sperm cells: many, mini, motile
• Much smaller than ovum and is motile
• Flagellum and a lot of mitochondria enable it to swim
• Sperms have a streamlined shape to reduce resistance and increase speed

Type of a lysosome:
Contains enzymes to
digest the outer layer
of the egg Enable it to swim

Haploid nucleus contains the

haploid number of chromosomes Many mitochondria:
so that the full complement can be To provide energy for movement
restored at fertilisation
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Structural differences between sperm and egg:
• Sperm has a flagellum
• Streamlined shape
• Has an acrosome
• No zona pellucida
• No cortical granules
• Less cytoplasm

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The process of fertilisation
Number of Name of Stage
stage
1 Acrosome reaction
2 Membrane fusion
3 Cortical reaction
4 Fertilisation
Q: Describe and explain how, in mammals, events following the acrosome reaction prevent more than one sperm
fertilising an egg.
Event
• Triggered as soon as the sperm heads touch the surface of the ovum (zona
pellucida)
• Sperm is attracted to the ovum by chemicals released from it
• The acrosome of the sperm swells up and releases digestive enzymes
• These break down the zona pellucida of the ovum
• Surface membranes of the sperm and egg fuse
• Haploid nucleus from sperm enters cytoplasm of the egg
• Cortical granules found in the egg fuse with cell membrane
• and release their contents into the zona pellucida by exocytosis
• These cause the zona pellucida to thicken
• Preventing other sperms to enter
• Finally fusion of the sperm and egg haploid nuclei occurs to restore the
diploid number
• A fertilised ovum called a zygote is created
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The process of fertilization

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2 types of cell division: How are gametes formed?
Mitosis Meiosis
• Forms all cells in our body except • Forms sex cells
sex cells • Occurs in ovaries and testes
• Produces 2 cells which contain • Produces 4 cells, each with half the
identical sets of chromosomes number of chromosomes
• DIPLOID cells (2n) • Forms genetically different gametes
• HAPLOID cells (n)

Role of meiosis:
• Produces haploid cells: necessary to maintain the diploid number after
fertilization
• Creates genetic variation through production of non-identical gametes 21
MEIOSIS
PROCEDURE

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Genetic variation and meiosis
• Two processes create the variation between the four daughter cells:

1. During meiosis I, homologous pairs of chromosomes swap parts of their genetic

material. This is crossing over.

2. The chromosomes from each pair are randomly assigned to the daughter cells by
independent assortment.

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Independent assortment
• During meiosis one chromosome from each pair ends in each gamete
• Random arrangement of chromosomes from homologous pairs, gives rise to a different combination
of paternal and maternal chromosomes
• How it happens: an organism with 6 chromosomes, that is three homologous pairs XX, YY and ZZ
could form 8 (23) combinations in its gametes

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Page 114, q. 3.4
Give the possible combinations of chromosomes that could occur in the
gametes of an organism with three homologous pairs Xx, Yy and Zz
Answer:
Possible combinations: (23)
1. XYZ, 2. XYz, 3. Xyz, 4. XyZ, 5. xyZ, 6. xyz,
7. zYz, 8. xYZ
Page 114, q. 3.5
How many possible combinations of maternal and paternal chromosomes could
be found in the gametes of organisms with 2n=8; and organisms with 2n=10?
Answer:
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Crossing over
• During MEIOSIS I, homologous
chromosomes come together as pairs
and all four chromatids come into
contact
• At these contact points the chromatids
break and re-join  exchanging sections
of DNA between non-sister chromatids
• The points where the chromatids break is
called a chiasma and several of these
often occur along the length of each pair
of chromosomes  creating variation
• There is no crossing over between the
sex chromosomes during meiosis
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Note: Chromatids and centromeres
• A chromatid is one of two thread-like strands of a chromosome. They joined
together at the point called centromere

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Mendel’s genetic experiments:
• Mendel’s results: He concluded that inheritance of one set of genes is
independent from other genes
• This however is not always the case!!
Homozygous tall Homozygous
purple-flowered short white-
plants flowered plants

All offspring: tall with purple flowers

All combinations: tall &

purple, tall & white,
short & purple, short &
white

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• From the above results Mendel concluded that the inheritance of one pair of
factors (he did not know about genes at the time) is independent of the
inheritance of other pairs.
• This is not always the case: there are some characteristics that tend to be
inherited together
• In this cases: one particular allele for a gene is inherited with one particular
allele for another gene  they appear to be linked together

• So, genes are inherited independently only if they are on separate

chromosomes or are far apart on the same chromosome
• Any two genes with a locus on the same chromosome are linked together and
will tend to be passed as a pair to the same gamete  LINKAGE

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Linkage: Two genes with locus/position on the same
chromosome

• If two genes are very close

together on the same
chromosome crossing over is
very unlikely to happen
between them
• They are strongly linked and
inherited as a pair

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Example of a linkage of two genes in fruit flies
(Drosophilia spp.)
• The genes will only be separated and
go into different gametes if crossing
over happens between the pair of
genes
• If the two genes are very close
together on the same chromosome,
crossing over is very unlikely to
happen between them
• The two genes are said to be
strongly linked and they will be
inherited as a pair
Note: **Genes inherited independently only if they are on separate chromosomes or far apart**
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Sex Linkage
• Sex is controlled by the sex chromosomes (Females – XX, Males – XY)
• Genes found on the sex chromosomes are said to be sex linked
• **All genes on the sex chromosomes are passed on with those that determine
sex**

• Since men have only one X chromosome, if they inherit the faulty allele on the X
chromosome they will inherit the disease (x-linked disease: inheritance from
mother to son)
• This happens as Y chromosomes do not have loci for many genes, they only
determine gender
• Men suffer from some conditions more commonly than women i.e. red-green
colour blindness
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Examples of sex-linked diseases
Red-green colour blindness
• Confusion of red and green colours
• Occurs in 8% of men, but in only 0.5% of women

Hemophilia
• More common in men than in women

In fruit-flies: eye colour, is sex-linked with males having white eyes rather than the usual red
eyes, more often than females

• Note: you can test if you have any form of colour blindness using an Ishihara test online:

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How is color blindness created?
• The gene loci for the three pigments found in the eye’s cone cells
(photoreceptors – IGCSE) are on the X chromosome
• Cone cell pigments are needed for color vision
• If one or more cone pigments is faulty or absent, the person will not be able to
see colours normally: they will have some form of color blindness

How is color blindness inherited?

• It happens when there is a mutation in one of the cone pigment genes created
during meiosis

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Worked example of X-linked disease:
May: a mutation has occurred in the gene for cone pigment in one of the
gametes that formed her - heterozygous for colour blindness (XNXn)

XN is an X chromosome with a normal allele N for cone pigment

Xn is an X chromosome with a mutant allele n for cone pigment
May has a normal vision because allele N is dominant to allele n: carrier
May has children with George

George: XNY – he has normal vision

Note: The Y chromosome has no allele symbol (N or n) because the Y
chromosome has no locus for this gene
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 May George

Parents’ Full colour vision Full colour vision

phenotypes
Parents’ XNXn XNY
genotypes

Gametes from mother

XN Xn
Gametes from XN XNXN XNXn
father
Y XNY XnY
Offspring phenotypes: 50% full color vision girl (25% are carriers)
25% full color vision boy
25% colour blind boy
The genetic diagram shows that there is a 25% probability that the offspring from these two parents will be color blind, but
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only color blind boys will occur and not colour blind girls
DID YOU KNOW?
Gametes and fertilisation in plants (p.118)
Plant gametes creation:
• Ova: produced within the ovary, but only one of the four nuclei at the end of meiosis forms
an ovum – the other disintegrate

• Male gametes: formed by meiosis, then undergo mitosis to give rise to 2 haploid nuclei
(both land on the stigma)
• 1 nucleus controls growth of the pollen tube
• The second nucleus divides again to produce 2 haploid nuclei:
1. 1 nucleus(n) fuses with egg(n) to produce a diploid zygote (2n)
2. 1 nucleus fuses with two nuclei in the embryo sac called polar nuclei (2n) to produce a
triploid cell (3n)

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• The triploid cell develops into an endosperm cell which forms the seed’s storage tissue
Describe the process of double fertilisation in plants
(June 2016)
• one haploid male nucleus fuses with haploid egg nucleus
• to produce a diploid/2n zygote
• the other haploid male nucleus fuses with two polar nuclei
• to produce triploid/3n endosperm nucleus

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