Module 6: Genetic Change

Topic 1: Mutation
A mutation is any permanent change in the DNA base sequence and typically occurs during
DNA replication before cell division. Mutations can impact on cell activity, go unnoticed,
give rise to different phenotypes, or cause cancer in an organism. They can occur
spontaneously inside the cell or be induced by environmental factors (e.g., UV radiation).
There are two main types of mutations:
1. Point mutations
2. Chromosomal mutations

Point mutations
Point mutations are gene mutations where one or more nitrogenous bases are altered in the
DNA sequence of a gene. Types of point mutations include base substitutions, insertions, and
deletions.
Base substitution can be further divided into three categories: silent, nonsense, and missense.
Insertion and deletion of nucleotides in the DNA sequence cause frameshift mutations that
alter the overall reading frame of the gene, past the mutation, producing altered proteins as a
result.
Chromosomal mutations
Chromosomal Mutations are mutations that alter the structure or number of
chromosomes. Chromosomal Mutations affecting the structure of chromosomes (block
mutations) include:
o Insertion of a segment of one chromosome into another chromosome.
o Deletion occurs when a chromosome segment breaks off and is permanently deleted.
o Inversion is where a segment of a chromosome breaks off and is inverted before being
re-inserted into its original chromosome.
o Duplication is a segment of a chromosome that is copied twice and may remain on
the same chromosome or attaches onto a homologous chromosome.
o Translocation is a segment of a chromosome being exchanged with another non-
homologous chromosome segment.

Chromosomal mutations affecting the number of chromosomes are caused by non-

disjunction, which occurs during cell division and is a result of a chromosome not separating
properly into the gametes.
Trisomy occurs when there is an extra copy of the same chromosome. Down syndrome is a
common result of Trisomy 21, where there are three copies of chromosome 21 instead of two
in the offspring.
Polyploidy occurs when there are extra sets of chromosomes, e.g., instead of being diploid
(2N), the offspring is triploid (3N) or tetraploid (4N). This type of mutation is fatal in humans
but can be useful in crop plants as it gives rise to traits such as large seedless fruits.
Mutagens are the cause of induced mutations, and there are a variety of types:
o Physical, such as electromagnetic radiation
o Chemical, such as the chemicals in tobacco smoke.
o Biological, such as the Human Papillomavirus (HPV).
The impact of mutations will depend on whether the mutations occur in a somatic or gametic
cell. Somatic cell mutations occur in body cells, affecting only the individual organism in
which the mutation occurred in. Germ-line mutations occur in gametic cells (sperm or egg)
and can be passed on to the offspring.
The impact of a mutation also depends on whether it occurs in the coding or non-coding
DNA regions. A mutation in a coding region disrupts gene function and is likely to modify a
protein product. A mutation on non-coding DNA is less likely to have an impact and is more
likely to be passed on to the next generation.

Topic 2: Biotechnology
Biotechnology is the area of biology that uses living systems it organisms to develop or
modify products to benefit mankind. Various past uses of biotechnology include:
o Fermentation – microbes are encouraged to consume sugar and produce useful
products such as carbon dioxide and alcohol.
o Antibiotics – in the past, moldy food and honey were applied to injuries due to their
antibiotic properties.
o Selective breeding – plants or animals with useful characteristics are used for
breeding. The useful characteristic becomes more common over time. New varieties
of plants and animals are produced this way.
Biotechnologies that were developed more recently include:
o Genetic screening – Babies or adults can have their genomes tested for genetic
diseases.
o CRISPR-Cas9 – The Cas9 enzyme runs along the DNA of a living cell, looking for a
sequence that matches the guide sequence. Once the sequence is found, the enzyme
cuts the DNA. By changing the guide sequence, scientists can use CRISPR-Cas9 to
turn off genes.

o Gene therapy – Used for diseases caused by a single gene mutation, viruses, or
liposomes are used to deliver the normal version of the gene into the patients' cells.
o Stem cell treatments – Stem cells are undifferentiated cells that can be stimulated to
become any type of cell. This is useful for repairing damaged tissue and
malfunctioning cells.
Future directions for biotechnology could include:
o Using somatic cell nuclear transfer and a surrogate species to bring back species that
are extinct (de-extinction).
o Use of nanoscience in agriculture to detect animal and plant pathogens or deliver
pesticides to improve food.
o Pharmacogenomics, where drugs can be engineered for each patient's genetic
makeup to maximize treatment.
o Gene drives that ensure that two copies of a modified gene are passed on to all
descendants rather than following normal patterns of inheritance.
While the use of modern biotechnology is incredibly useful, it is not without its issues. With
the expansion of genetic screening, there is concern about who has access to someone's
personal genetic information and whether it could be used to discriminate against them. This
technology can also be used to screen embryos and select one with 'favorable' characteristics
in an unethical way.
Similarly, CRISPR-Cas9 can be used to modify the genes of an embryo with unpredictable
consequences (e.g., new mutations). Many of these biotechnologies are also expensive and so
are not equally available to everyone, exacerbating existing inequality.
CRISPR-Cas9 offers potential cures for illnesses like hemophilia. But it is also a technology
that raises ethical dilemmas and has already seen misuse by some researchers who altered
genes in human embryos.
Even simple technology, such as selective breeding, can be useful for humans but may affect
the welfare of the animal. For example, Belgian blue cattle have been selected for a mutation
that gives them extra muscle mass, but as a result, they cannot give birth naturally and suffer
from many health issues.

Topic 3: Genetic Technologies

Artificial insemination involves the assisted placement of sperm into the female
reproductive tract in animals. It can be used for medical or agricultural purposes (e.g., cattle
breeding). Artificial pollination is the assisted transfer of pollen from the male part of a
flower to the female part of the flower in plants. It is used to selectively breed plants with
desirable traits such as higher crop yield.
Both practices increase genetic variability by allowing crosses that would never have
occurred naturally due to distance or time factors. However, they decrease variability and
thus Earth's long-term biodiversity, as the same traits are selected for every time, and the
same male may be used many times.

Cloning is a process that involves making an exact copy of genetic material. It includes:
o Gene cloning, where many copies are made of a single gene.
o Whole organism cloning, where genetically identical copies are made of an
individual.
Whole-organism cloning is achieved by somatic cell nuclear transfer, where the nucleus is
taken from a somatic cell of the organism to be cloned and is inserted into an egg from a
different individual (that has had the nucleus removed).
Gene cloning can be achieved through recombinant DNA, an artificially created DNA
sequence achieved by combining two or more DNA segments that do not usually occur
adjacent to one another. Recombinant DNA can be used in multiple fields, including
agriculture and medical applications.
DNA segments from different species are sometimes integrated in this way in order to
produce a transgenic organism. For example, Bt cotton is a transgenic organism that has
been modified to produce its own pesticide in order to maximize yield. Insulin can be
produced by transgenic bacteria containing the human gene for insulin, as shown below.

Creating transgenic species has many benefits for agriculture, medicine, and industry.
However, their use has raised many social and ethical questions:
o Are transgenic foods safe to consume? Should they be labelled?
o Is it ethical to modify the DNA of an organism in this way?
o Do transgenic organisms create animal welfare issues?
o What are the impacts on biodiversity and the environment?
o Is there a harmful relationship between agribusiness and farmers?
Golden rice is a genetically modified crop with a gene from corn which is intended to
increase its Vitamin A content for improved nutrition. While this product has the capacity to
save millions of lives, there are concerns for its safety, profitability, impact on the
environment, and effectiveness.
The biotechnologies covered in module 6 have an impact on genetic, species, and ecosystem
biodiversity.