76

Gene expression in action

• In multicellular organisms, every cell contains the same genetic information but
different cells perform different functions
• They differentiate and develop into different tissues and organs→cell differentiation
• Locus- a location of a gene on a chromosome
• Some features can be determined by multiple alleles
• Codominance- both alleles will be expressed

Gene linkage
• Certain characteristics are inherited on
the sex chromosomes and so it makes
a difference if you are male or female

Polygenetic traits
• Monohybrid genetics crosses involve
only one gene locus
• Most traits are determined by several
interacting genes→ polygenetic
• Dihybrid inheritance- involves the
inheritance of two pairs of contrasting
characteristics at the same time

Linkage in
Fruit Flies

77
 • Genes that are very close together are less likely to be split during the crossing over
stage of meiosis than genes that are
further apart.
• It two genes are positioned very
close together on a chromosome,
they may be so tightly linked that
they are never split up
• If the genes are further apart,
crossing between them is more likely
to occur

Siamese Cats
• The genotype suggests that they should have
black fur
• Enzyme tyrosinase which is involved denature on
hotter parts of their body so their fur is white on
these places

E. coli and Lactose

• The presence of lactose in the diet
changes the way the DNA is transcribed
and translated
• The presence of lactose switches on the
production of the enzyme needed to
digest it
• Operon systems like this give very
sensitive control of the metabolism of
the cell, allowing it to change in response
to changes in the environment

78
Discontinuous and Continuous Variation
• Discontinuous variation is shown feature that are either present or not
o Blood group
o sex
• Characteristics that show continuous variation include weight and height in an animal
species, or the number of leaves on a
plant.
o Such factors are determined by
multiple genes
o They are also affected by the
environment
o Most measurements show
normal distribution

• The expression of a gene involves two keys stages- transcription of DNA to mRNA and
translation from mRNA to proteins
• Exerting controls at any of the stages of the process gives control over the expression
of the gene
• The different proteins present in a cell, and the quantities of those different proteins,
determines the type of cell and its function in the body
• The proteins can be changed once they are synthesized, giving another level of
control over the expression of a gene

Transcription Factors and the Control of Gene Expression

• The most common way of controlling gene expression is by switching on and off the
transcription of certain genes
• Transcription factors are proteins
that bind to the DNA in the nucleus
and affect the process of
transcribing the genetic material
• All transcription factors have
regions that enable them to bind to
a specific region on the DNA known
as promotor sequences
• Promoter sequences are usually
found just above the starting point
for transcription upstream of the
gene

79
 • Some transcription factors stimulate the transcription of a region of DNA simply by
binding to a DNA promoter sequence.
• This stimulates the start of transcription of that area of the DNA

• Other transcription factors bind to regions know as enhancer sequences and regulate the
activity of the DNA by changing the structure of chromatin, making it less or more open to
DNA polymerase
• An open chromatin structure is associated with active gene expression; closed chromatin
structure is associated with gene inactivity
• Often several different factors will be
involved in the expresion of one gene→
many levels of control
• Also, a single transpriction factor may
control the activity of several different
gene.
• This means that each gene can be
expressed or represed at different stages
of life, in different cell types and under
different circumstances in the body

This all occurs in the nucleus where

transcription of DNA to mRNA
occurs
RNA Splicing
• The mRNA produced in the nucleus results from the transcription of all the DNA
making up the gene, including the exons and introns (the non-coding DNA)
• We now know that this mRNA is not quite finished when it is first transcribed
• Several processes occur which modify it before it lines up on the ribosomes, so it is
referred to as pre-mRNA
• The modification to the pre-mRNA always involve the removal of introns and, in
some cases, some exons are removed as well. Enzyme complexes called spliceosomes
join together the exons that are to be
transcribed and produce the mature,
functional mRNA

80
DNA Methylation
• The addition of the methyl groups always occurs at the site where cytosine occurs
next to a guanine in the DNA chain with a phosphate bond between them
• The methyl is added by DNA
methyltransferase enzyme
• This always silences the gene or a
sequence of genes
• DNA methylation is equally important
• The removal of the methyl group
enables genes to become active so
they can be transcribed

Histone Modification
• DNA helicase wind around the histones to form chromatin
• When the chromatin is densely supercoiled and condensed, the genes are not
available to be copied and this is known as heterochromatin
• Active chromatin is more loosely held together, with uncoiled regions of DNA making
more genes available

Other factors
• Histone acetylation- an acetyl group is added to a one lysine in the histone
structure. Adding an acetyl group usually opens up the structure and activates the
chromatin, allowing genes in that area to be transcribed. Removing an acetyl group
produces heterochromatin again
• Histone methylation- a methyl group is added to a lysine in the histone. Depending
on the position of the lysine, methylation may cause inactivation or activation.
Methylation is often linked to silencing of a gene or even a whole chromosome (one
X chromosome is female)

Non-Coding RNA
• About 90% of the human genome is transcribed into mRNA, but only 2% of those
RNA molecules code for proteins
• Much of the rest of the non-coding RNA seems to affect the transcription of the DNA
code or modifies the products of transcription

81
 • In humans, the zygote has the potential to form all of the 216 different cell types
needed for an entire new life→totipotent
• The earliest cells in an embryo are totipotent like the zygote
• By around the fourth day after fertilization, they become a solid ball of 10-30 cells
known as morula.
• Each of the cells in the morula is still totipotent and has potential to form every type
of adult human cell
• Within another day, the cells have divided more and formed a blastocyst
• By the time the blastocyst is formed, the cells in the inner layer have lost some ability
to differentiate and the outer layer of cells goes on to form placenta.
• The inner layer of cells can form almost all of the cell types needed in future, but not
tissue such as placenta
• These cells are known as pluripotent embryotic stem cells
• They have become pluripotent as a result of genes already being permanently
switched off.

Types of Stem Cells

• Embryotic stem cells
• Umbilical cord stem cells
• Adult stem cells
o Remain undifferentiated cells found among the normal differentiated cells in
a tissue or organ
o multipotent

82
The Development of an Organism
• the most common way of controlling gene expression is by switching on and off the
transpiration of certain genes
• as development progresses, more genes are silenced in each cell
• it is the combination of particular genes that are activated or silenced that results in
the different characteristics of fully differentiated mature cell

An Example of Epigenetic Control in Human Development

• the genes controlling the production of alpha globin are needed in both fetus and
mature baby
• the genes controlling fetal gamma globin are very important during fetal
development but need to be
silenced around the time of
birth
• the adult beta globin needs to
be activated just before birth in
the bone marrow
So far scientists have found evidence
of some epigenetics control
mechanisms

• histone acetylation activates

gamma globin gene
• DNA methylation silences fetal
gamma globin
• Non-coding RNAs are
associated, but don’t know how

Stem Cell Therapy

• When first stem cells were cultured, scientists hoped that they could be used to
produce new tissue but this has not been successful→developed cancer
• The early work was based on embryotic stem cells, but is not accepted in all countries
so the work is more focused on adult stem cells
• Adult stem cells have been successfully used to produce new trachea and repair
damage by heart attacks
• No risk of rejection

83
Therapeutic Cloning
• No risk of rejection
• Produce large quantities of healthy
tissue
• Shortage of donor eggs
• Ethical Objections

Induced Pluripotent Stem Cells

• Researchers from Japan took adult stem cells and using genetic engineering
techniques, reprogrammed them to be pluripotent again
• Effectively, they produced stem cells without using an embryo
• What is more, the iPS cells renew themselves
• Overcomes ethical issue to using embryotic stem cells

Who Could Benefit from Stem Cell Therapy?

• People with Parkinson’s disease
• People with diabetes 1
• People with damaged nerves
• People who need organ transplantation

Ethical Principals
• Respect for autonomy- not performing procedures without their consent
• Beneficence- the aim of doing good
• Non-maleficence- do no harm
• Justice- treating people fairly

84