F5 BULUSAN, Stephanie T.

December 5, 2018

11 STEM – K Assignment (General Biology)

WHAT IS A GENETIC MUTATION?

Mutations are defined as any permanent changes in the DNA sequence of an organism. The size of a mutation can range
from one single nucleotide to an entire region in a chromosome. There are many types of mutations (Figure 1). For
example, a point mutation occurs when a single nucleotide is replaced with another single nucleotide. An insertion
mutation occurs when an extra piece of DNA is added to a chromosomal region. A deletion mutation, conversely, occurs
when a part of the DNA sequence is missing from the genome.

Figure 1: Types of mutations (substitution, insertion and deletion)

Gene mutations can be classified in two major ways:

 Hereditary mutations are inherited from a parent and are present throughout a person’s life in virtually every
cell in the body. These mutations are also called germline mutations because they are present in the parent’s
egg or sperm cells, which are also called germ cells. When an egg and a sperm cell unite, the resulting fertilized
egg cell receives DNA from both parents. If this DNA has a mutation, the child that grows from the fertilized egg
will have the mutation in each of his or her cells.

 Acquired (or somatic) mutations occur at some time during a person’s life and are present only in certain cells,
not in every cell in the body. These changes can be caused by environmental factors such as ultraviolet radiation
from the sun, or can occur if an error is made as DNA copies itself during cell division. Acquired mutations in
somatic cells (cells other than sperm and egg cells) cannot be passed to the next generation.

Genetic changes that are described as de novo (new) mutations can be either hereditary or somatic. In some
cases, the mutation occurs in a person’s egg or sperm cell but is not present in any of the person’s other cells. In other
cases, the mutation occurs in the fertilized egg shortly after the egg and sperm cells unite. (It is often impossible to tell
exactly when a de novo mutation happened.) As the fertilized egg divides, each resulting cell in the growing embryo will
have the mutation. De novo mutations may explain genetic disorders in which an affected child has a mutation in every
cell in the body but the parents do not, and there is no family history of the disorder.

Somatic mutations that happen in a single cell early in embryonic development can lead to a situation called
mosaicism. These genetic changes are not present in a parent’s egg or sperm cells, or in the fertilized egg, but happen a
bit later when the embryo includes several cells. As all the cells divide during growth and development, cells that arise
from the cell with the altered gene will have the mutation, while other cells will not. Depending on the mutation and
how many cells are affected, mosaicism may or may not cause health problems.

Most disease-causing gene mutations are uncommon in the general population. However, other genetic changes
occur more frequently. Genetic alterations that occur in more than 1 percent of the population are called
polymorphisms. They are common enough to be considered a normal variation in the DNA. Polymorphisms are
responsible for many of the normal differences between people such as eye color, hair color, and blood type. Although
many polymorphisms have no negative effects on a person’s health, some of these variations may influence the risk of
developing certain disorders.
EXAMPLES OF GENETIC MUTATION:
1. Progeria
This genetic disorder is as rare as it is severe. The classic form of the disease, called Hutchinson-Gilford Progeria,
causes accelerated aging. Most children who have progeria essentially die of age-related diseases around the age of 13,
but some can live into their 20s. Death is typically caused by a heart attack or stroke. It affects as few as one per eight
million live births.

The disease is caused by a mutation in the LMNA gene, a protein that provides support to the cell nucleus. Other
symptoms of progeria include rigid (sclerotic) skin, full body baldness (alopecia), bone abnormalities, growth
impairment, and a characteristic “sculptured” nasal tip.

2. Hypertrichosis
Hypertrichosis is also called “werewolf syndrome” or Ambras syndrome, and it affects as few as one in a billion people;
and in fact, only 50 cases have been documented since the Middle Ages.

People with hypertrichosis have excessive hair on the shoulders, face, and ears. Studies have implicated it to a
rearrangement of chromosome 8. It happens due to a disruption of the “crosstalk” between the epidermis and the
dermis as hair follicles form in the 3-month fetus at the eyebrows and down to the toes. Normally, signals from the
dermis send the messages to form follicles. As a follicle forms, it sends signals to prevent the area around it from also
becoming a follicle, which results in the equal spacing of our five million or so follicles. Most of our body parts ignore the
messages to form follicles, which explains why most of us are relatively hairless.

3. Ectrodactyly
Formerly known as “lobster claw hand, ”individuals with this disorder have a cleft where the middle finger or toe should
be.
These split-hand/split-foot malformations are rare limb deformities which can manifest in any number of ways,
including cases including only the thumb and one finger (typically the little finger or little finger). It’s also associated with
hearing loss. Genetically speaking, it’s caused by several factors, including deletions, translocations, and inversions in
chromosome 7.

4. Blue eyes
it is well known that having blue eyes is a genetic mutation! About 6,000 to 10,000 years ago a rare genetic mutation
occurred that resulted in a person having blue eyes. This one individual has now become a common ancestor to all
people with blue eyes according to researchers. The gene involved is the OCA2 gene.

The mutation caused the creation of a switch. The OCA2 gene codes for the P protein, which is involved in the
production of melanin. By switching off the gene, the production of melanin in the iris is reduced and turns brown eyes
to blue.

5. Freckles

This is actually related to red hair in a way. Freckles can result from time spent in the sun, but some are because of
genetics. Skin celled called melanocytes react to sunlight and turn tan to protect against the sun’s UV waves. In most
people these melanocytes are spread out fairly evenly, but in some cases, especially in people with red hair, the cells
tend to clump together.

As with red hair, it is the MC1R proteins that are the main issue. A substitution error errors on the MC1R gene which is
the set of instructions for making the MC1R protein. When this protein is not working properly a build-up of the red
color producing pigment pheomelanin occurs and clumps together. When sunlight strikes the clumps, the orangish-red
freckles start popping out.

REFERENCES:

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203.

2. Cadwell RC, Joyce GF. Randomization of genes by PCR mutagenesis. Genome Research. Cold Spring Harbor
Lab; 1992 Aug 1;2(1):28–33.

3. Ho SN, Hunt HD, Horton RM, Pullen JK, Pease LR. Site-directed mutagenesis by overlap extension using the
polymerase chain reaction. Gene. 1989 Apr;77(1):51–9.

4. Capecchi MR. Altering the genome by homologous recombination. Science. American Association for the
Advancement of Science; 1989 Jun 16;244(4910):1288–92.