Edexcel A-Level

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Biology

Topic 3: Voice of the Genome

SPECIFICATION
● All living organisms are made of cells, sharing some common features.
● Ultrastructure of eukaryotic cells, including nucleus, nucleolus, ribosomes, rough and
smooth endoplasmic reticulum, mitochondria, centrioles, lysosomes, and Golgi
Apparatus.
● Role of the rough endoplasmic reticulum (rER) and the Golgi Apparatus in protein
transport within cells, including their role in the formation of extracellular enzymes.
● The ultrastructure of prokaryotic cells, including cell wall, capsule, plasmid, flagellum,
pili, ribosomes, mesosomes and circular DNA.
● Mammalian gametes are specialised for their functions (including the acrosome in
sperm and the zona pellucida in the egg).
● Process of fertilisation in mammals, including the acrosome reaction, the cortical
reaction and the fusion of nuclei.
● A locus (plural = loci) is the location of genes on a chromosome. The linkage of genes
on a chromosome and sex linkage.
● Role of meiosis in ensuring genetic variation through the production of non-identical
gametes as a consequence of independent assortment of chromosomes and crossing
over of alleles between chromatids (details of the stages of meiosis are not required).
● Role of mitosis and the cell cycle in producing identical daughter cells for growth and
asexual reproduction.
Edexcel A-Level
alevelbiology.co.uk
Biology

Topic 3: Voice of the Genome

SPECIFICATION
● What is meant by the terms ‘stem cell, pluripotency and totipotency’.
● Society uses scientific knowledge to make decisions about the use of stem cells in
medical therapies.
● How cells become specialised through differential gene expression, producing active
mRNA leading to synthesis of proteins, which in turn control cell processes or
determine cell structure in animals and plants, including the lac operon.
● How the cells of multicellular organisms are organised into tissues, tissues into
organs and organs into systems.
● How phenotype is the result of an interaction between genotype and the environment.
● How epigenetic changes, including DNA methylation and histone modification, can
modify the activation of certain genes.
● How epigenetic changes can be passed on following cell division.
● How some phenotypes are affected by multiple alleles for the same gene at many loci
(polygenic inheritance) as well as the environment and how this can give rise to
phenotypes that show continuous variation.
Edexcel A-Level
Topic 3: Voice of the Genome
Biology

Cell
• All living organisms are made up of cells.
• Cell is the structural and functional unit of life.
• It is the smallest unit of a living organism.
• Depending on the number of cells the organisms can be unicellular or multicellular.
✓ Unicellular organisms: These organisms are made up of only one cell. For example, a
bacterial cell.
✓ Multicellular organisms: These organisms are made up of more than one cells. For
example, a bird.

Characteristic Features of a Cell

• A single cell is capable of functioning as a whole organism.
• The cell is a complex unit. It maintains its temperature according to the surrounding. This
is called homeostasis or steady state.
• All cells contain cell organelles such as nucleus, mitochondria, etc.
• All cells have an outer covering known as cell membrane or plasma membrane, which is
selectively permeable.
• All cells contain different types of proteins.

Types of Organisms: Depending on whether the cell contains membrane-bound cell

organelles and a true nucleus or not, there are two types of organisms:
• Prokaryotic Organisms: In these organisms, the cell lacks the membrane-bound organelles
like mitochondria, endoplasmic reticulum. These also lack true a nucleus i.e. the nucleus is
not surrounded by a nuclear membrane. For example, a bacterial cell.
• Eukaryotic Organisms: These organisms have cells that contain a true nucleus and
membrane-bound cell organelles. For example, a human cell, an animal cell and a plant
cell.

 
 

A Prokaryotic Cell
Image Source: OpenStax CNX
Edexcel A-Level
Topic 3: Voice of the Genome
Biology

   

Animal Cell
Image Source: OpenStax CNX

Plant Cell
Image Source: OpenStax CNX
Edexcel A-Level
Topic 3: Voice of the Genome
Biology

Role of Cell Organelles in Protein Transport

• Endoplasmic Reticulum and Golgi Apparatus are the two organisms that are involved in
protein transport within the cells and outside the cell.
• The rough Endoplasmic Reticulum (rER) contains the ribosomes attached to it.
• Ribosomes are the site of protein synthesis.
• There are two types of ribosomes:
✓ Free Ribosomes: These are found freely in the cytoplasm. These are responsible for
the proteins that are needed by the cell.
✓ Ribosomes on ER: These ribosomes are attached to the ER and are responsible for
the proteins that are to be excreted outside the cell or will attach to the cell
membrane.
• Protein, which is to be transported outside the cell, is synthesised on the rER and then
folded and processed.
• The folded and processed protein reaches the Golgi Apparatus inside the vesicles.
• These vesicles are formed on the cis face of the Golgi Apparatus.
• Inside the Golgi Apparatus, the protein molecule might be processed again.
• The protein molecule enters the vesicle again but this time the vesicle is on the trans side
of the Golgi Apparatus.
• The vesicle then fuses in the cell membrane and the protein in transported outside the cell.

Endoplasmic Reticulum and Golgi Apparatus in Protein Transport

Image Source: OpenStax CNX
Edexcel A-Level
Topic 3: Voice of the Genome
Biology

Mammalian Gametes
• Mammals have two gametes, male gamete and female gamete.
• The male gamete is called sperm and female gamete is called egg.
• Gametes are sex cells that carry genetic information of both the parents.
• Reproduction through gametes is sexual reproduction.
• A normal somatic cell in humans contain 23 pairs of chromosomes while the gametes
contain only the half set i.e. 23 chromosomes.
• After fertilisation, a zygote is formed that contains 46 chromosomes.

Special Function of Mammalian Gametes

• Egg cells are larger than sperm.
• Inside the cell membrane, the egg cell has another protective layer known as Zona
pellucida. It is a glycoprotein layer.
• Eggs also store food for the developing embryo.
• Follicle cells are attached all over the cell membrane. It is an additional protective layer.
• The sperm has many mitochondria than the normal cells. Inside mitochondria respiration
takes place and ATP is produced that is used by the sperm during swimming.
• Sperm has a tail that helps during swimming towards the egg.
• The cytoplasm of the sperm contains acrosome. It contains digestive enzyme to break the
protective layer Zona pellucida of the egg cell.

Fertilisation in Mammals
• In mammals, fertilisation takes place in the oviduct of the female reproductive system.
• The sperm swims and reaches the egg cell.
• Once sperm touches the zona pellucida, acrosome reaction takes place in which digestive
enzymes are released.
• After digestion, the sperm head fuses with the cell membrane of the egg.
• This leads to cortical reaction where the egg cells releases cortical granules.
• The cortical granules are released in the space between the cell membrane and zona
pellucida.

Fertilisation
Image Source: OpenStax CNX
Edexcel A-Level
Topic 3: Voice of the Genome
Biology

• This thickens the zona pellucida and prevents other sperms from entering the egg cell.
• The nucleus of the sperm and the egg cells fuse and zygote is formed.

Linkage of Genes on Chromosomes

• Gene is the smallest unit of heredity. It is present on the chromosome. The position of a
gene (segment of DNA) on the chromosome is called a locus.
• The gens on loci from different chromosomes are independent of each other and can be
found anywhere on the gametes. This the case with independent assortment.
• Whereas, sometimes the genes can be linked to each other. Genes are linked to each other
when they have loci on the same chromosome. These genes stay together during
independent assortment.
• The more closer are the loci of genes on a chromosome more are the genes linked.

Sex Linkage
• It is the phenomenon when the linked genes are present on the sex chromosomes.
• It is also called sex linked.
• X and Y are two sex chromosomes that determine the sex of a human.
• In mammals, female has XX chromosomes and male has XY chromosomes.
• Comparatively, the Y chromosome is smaller than the X chromosome and thus carries less
genes.
• Majority of the sex linked chromosomes are X linked.
• Since male has only one X chromosome, the characteristic is recessive and males show
recessive phenotypes for sex linked genes.
• Many of the genetic diseases are recessive in nature and are called X-linked disorders.
For example – color blindness, hemophilia, etc.

Osmosis
Image Source: OpenStax CNX
Edexcel A-Level
Topic 3: Voice of the Genome
Biology

Role of Meiosis in Inheritance

• Meiosis is a reduction division that takes place in sex cells to produce haploid gametes.
• In meiosis, the sex cells undergoes division two times to produce four daughter cells.
• All the four cells produced are genetically different.
• Crossing over takes place during meiosis where the two chromatids twist, break off and
rejoin.
• Thus, a meiosis exchange of genetic material takes place.
• The new cells formed have different alleles.
• The new cells have half set of chromosomes from mother (maternal) and half from father
(paternal).
• The gametes are produced with different combination and this is called independent
assortment of the chromosomes.

Crossing Over
Image Source: OpenStax CNX
Edexcel A-Level
Topic 3: Voice of the Genome
Biology

Cell Differentiation
• A multicellular organism such as humans, birds and animals are made up of different
kinds of cells that carry out different functions.
• All cells arise from the stem cells.
• Stem cells are specialised cells that can give rise to other cells.
• Cell differentiation is a process by which the stem cells divide by mitosis and give rise to
other cells.
• This ability of stem cells to differentiate into other cell type is called potency.
• There are two types of potency:
✓ Totipotency: The ability of stem cells to differentiate into all kinds of cells including
the embryonic cells is called totipotency.
✓ Pluripotency: The ability of stem cells to differentiate into all kinds of cells but not
embryonic cell is called pluripotency.
 

Differentiation of Stem Cells

Image Source: Wikipedia

Stem Cells Undergo Differential Gene Expression

• Stem cells also contain genes as with normal cells.
• All the genes in a stem cell are not active at a time.
• Specialisation of these cells occur because different genes are expressed differently.
• Only those genes are expressed, for which the product is actually needed by the cells.
• Stem cells also contain genes that are transcribed and translated. But all the genes in a
stem cells are not expressed into proteins.
Edexcel A-Level
Topic 3: Voice of the Genome
Biology

• Stem cells are used in treating many deadly diseases such as spinal cord injury,
organ transplantation, etc.
• Induced pluripotent stem cells (iPS)  are produced by reprogramming specialised
selected adult body cells. These cells are further used in organ transplantation by
producing organs from patient’s own cells converted to iPS. This will minimise the
chance of graft rejection.

Differential Gene Expression

• Gene expressions are altered at transcription and translation.
• Transcriptional factors are the proteins that turns the specific gene “on” and “off”.
• Transcription factors binding sites are referred as enhancers and silencers in case
of eukaryotes.
• In case of prokaryotes, transcription factors bind to the promoter site.
• Prokaryotes and eukaryotes have different transcriptional factors.
• One of the best example to see differential gene expression is a lac operon in E. coli.
• Operon is a part of DNA that contains few structural genes, a promoter and a
regulator.

A Lac Operon
Image Source: OpenStax CNX
Edexcel A-Level
Topic 3: Voice of the Genome
Biology

Organisation of Cells
• In a multicellular organism, cells have different levels or organisations.
• Cells with similar structure and function group together and is called tissue.
• Tissues are then organised into organs.
• Organs are organised to form organ systems.

Plant Tissues
Image Source: Wikipedia

Animal/Human Tissues
Image Source: Wikipedia

Variation
• Any variation in the genotype (genetic material) in an organism leads to phenotypic
(morphological) changes.
• Variation in phenotype can be
• Continuous Variation: This includes variation in height, weight and skin color.
• Discontinuous Variation: This includes variation in blood group.
• The characteristic that is controlled by only one gene show discontinuous variation such
as blood group.
• The characteristic that is controlled by more than one genes show continuous variation
such as height.
• Some characteristics can be influenced by the environment such as temperature that
triggers change in color due to decrease in temperature.

Variation Due to Environmental Changes

• Increased Methylation: Methylation is very important and is a type of epigenetic control.
Increased methylation changes the structure of DNA and thus no transcription and
translation of the gene.
• Modification of Histone: Histones are present on the DNA in eukaryotes. Addition or
removal of acetyl group controls gene expression.
• Epigenetic changes can occur in response to changing climate and can be passed on.
Edexcel A-Level
Topic 3: Voice of the Genome
Biology

Epigenetic Control
Image Source: OpenStax CNX

• The epigenetic changes can pass to the daughter cells after cell division.
• The behavior of the daughter cells should be same as the parent cell in context to the
epigenetic changes.
• If any change was well active in the parent cell, it will be active in the daughter cell.

Polygenic Inheritance and Continuous Variation

• Continuous variation is due to the polygenic inheritance.
• Polygenic inheritance is an inheritance of character due to the effect of more than one gene.
• It is affected by environmental changes.
• This includes milk yielding capacity, weight and height in cows.