SBI3U: Genetic Mutations – Damage to the Chromosomes
Learning Goal: Understand how DNA can be altered causing a mutation
The process of DNA replication is not always 100% accurate, and sometimes the
wrong base is inserted in the new strand of DNA. A permanent change in the
sequence of DNA is known as a mutation (Figure below).A mutation may have
no effect on the phenotype or can cause the protein to be manufactured
incorrectly, which can affect how well the protein works, or whether it works at
all. Usually the loss of a protein function is detrimental to the organism.
However, in rare circumstances, the mutation can be beneficial. For example,
suppose a mutation in an animal’s DNA causes the loss of an enzyme that makes
a dark pigment in the animal’s skin. If the population of animals has moved to a
light colored environment, the animals with the mutant gene would have a
lighter skin color and be better camouflaged. So in this case, the mutation was
beneficial.
There are many possible types of mutations possible in chromosomes. In the
case of a point mutation, there is a change in a single nucleotide. Other
mutations can be more dramatic. A large segment of DNA can be deleted,
duplicated, inverted, or inserted in the wrong place. These mutations usually
result in a non-functional protein, or a number of non-functional proteins. A
deletion is when a segment of DNA is lost, so there is a missing segment in the
chromosome. A duplication is when a segment is repeated, creating a longer
chromosome. In an inversion, the segment of DNA is flipped and then reattached
to the chromosome. An insertion is when a segment of DNA from one
chromosome is added to another, unrelated chromosome.
Mutations can arise in DNA through deletion, duplication, inversion, insertion,
and translocation within the chromosome. A deletion is when a segment of DNA
is lost from the chromosome. A duplication is when a segment is repeated. In an
inversion, the segment of DNA is flipped and then re-annealed. An insertion or
translocation can cause DNA from one chromosome to be added onto another,
unrelated chromosome.
Even if a single base is changed, it can cause a major problem. The substitution
of a single base is called a point mutation. Sickle cell anemia is an example of a
condition caused by a point mutation in the hemoglobin gene. In this gene, just
the one base change causes a different amino acid to be inserted in the
hemoglobin protein, causing the protein to fold differently and not function
properly in carrying oxygen in the bloodstream.
If a single base is deleted, it can also have huge effects on the organism
because this would cause a frameshift mutation. Remember that the bases are
read in groups of three by the tRNA. If the reading frame gets off by one base,
the resulting sequence will consist of an entirely different set of codons. The
reading of an mRNA is like reading three letter words of a sentence. Imagine you
wrote “big dog ate red cat”. If you take out the second letter, the frame will be
shifted so now it will read “bgd oga ter edc at.” One single deletion makes the
whole “sentence”, or mRNA, not read correctly.
Many mutations are not caused by errors in replication. Mutations can happen
spontaneously and they can be caused by mutagens in the environment. An
example of a mutagen is radiation. High levels of radiation can alter the
structure of DNA. Also, some chemicals, such as those found in tobacco smoke,
can be mutagens. Sometimes mutagens can also cause cancer. Tobacco smoke,
for example, is often linked to lung cancer.
Normal Sentence:
THE FAT CAT SAW THE BIG RED DOG AND FOX.
Deletion
Duplication
Inversion
Insertion
Translocation
