Chapter 9 DNA Mutations and Genetic Engineering • MHR 289
the development of new species of organisms. As
Figure 9.5 indicates, stability and the variability
that can result from mutations are both important
features of the material of heredity
Causes of Mutations
Many mutations arise as a result of the molecular
interactions that take place naturally within the
cell. These mutations are known as spontaneous
mutations. One source of spontaneous mutations
is incorrect base pairing by DNA polymerase
during the process of DNA replication. The rate
of spontaneous mutations varies among organisms
and even among different genes within a single cell.
While every cell undergoes spontaneous
mutations, exposure to certain factors in the
environment can increase the rate of mutation.
Mutations that are caused by agents outside the cell
are said to be induced. A substance or event that
increases the rate of mutation in an organism is
called a mutagen. Mutagens fall into two general
categories, as described below.
Physical Mutagens
Over a period of more than 20 years in the early
1900s, American researcher Thomas Morgan
observed about 400 visible mutations in the tens
of millions of fruit flies with which he worked. In
1926, one of Morgan’s students (American Herman
Muller) bombarded a population of fruit flies with
X rays and produced several hundred mutants in a
single day. Muller went on to study the mutagenic
properties of X-ray radiation, and was awarded the
Nobel prize in 1946.
High-energy radiation, like that from X rays and
gamma rays, is known as a physical mutagen
because it literally tears through a DNA strand,
causing random changes in nucleotide sequences.
It may break one or both strands of the DNA
molecule, causing mutations ranging from the
deletion of just a few nucleotides to the loss of large
portions of chromosomes. High-energy radiation is
the most damaging form of mutagen known.
Ultraviolet (UV) radiation, which is present in
ordinary sunshine, has a lower energy level range
than X rays but is still a powerful mutagen. It is
most likely to affect the pyrimidine bases (C and T)
within the DNA molecule. Where two pyrimidines
are adjacent to each other, UV radiation can cause
a chemical change in the bases that bonds them
covalently to form a larger molecule called a dimer.
Figure 9.6 shows how the resulting dimer distorts
the DNA molecule. The distortion then interferes
with DNA replication. UV radiation damage as a
result of exposure to the Sun is one of the most
common causes of cancer (specifically melanoma,
a form of skin cancer) among light-skinned people.
The skin pigment melanin helps to absorb UV
radiation and offers some protection to the DNA
within skin cells. For this reason, people with dark
skin have a lower risk of developing cancer as a
result of exposure.
Chemical Mutagens
A molecule that can enter the cell nucleus and
induce mutations is called a chemical mutagen.
These mutagens react chemically with the DNA
molecule. Some chemicals, known as base analogues,
have molecular structures that are similar to those
For light-skinned people, a single sunburn can double their
risk of developing skin cancer.
BIO FACT
In mammals, spontaneous mutations are more than twice
as likely to arise in the DNA of males than in females.
BIO FACT
ultraviolet
light
thymine
dimer
kink
T
T A
A Figure 9.6Exposure to UV
radiation can cause a new
bond to form between adjacent
thymine bases. In turn, the
resulting dimer distorts the
DNA double helix and
interferes with replication.