Mutations
Mutations
Mutations
Contents
Causes of Mutation
Effects of Mutations
Mutations & Natural Selection
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Causes of Mutation
Your notes
Mutations
Causes of mutation
The rate that mutations occur can be estimated as around one mutation per 100 000 genes per
generation
Exposure to mutagenic agents can increase the rate of mutation, they include
High energy ionizing radiation, such as alpha, beta or gamma radiation
Chemicals, such as nitrogen dioxide or benzopyrene from tobacco smoke
Types of Mutation
Gene Mutations
A gene mutation is a change in the sequence of base pairs in a DNA molecule that may result in altered
gene function
Mutations occur continuously and spontaneously
Errors in the DNA often occur during DNA replication
As the DNA base sequence determines the sequence of amino acids that make up a protein, mutations
in a gene can sometimes lead to a change in the polypeptide that the gene codes for
Most mutations do not alter the polypeptide or only alter it slightly so that its structure or function is
not changed (as the genetic code is degenerate)
Gene mutations in the DNA base sequence can occur due to the insertion, deletion or substitution of a
nucleotide or due to the inversion, duplication or translocation of a section of a gene
Chromosome Mutations
A chromosome mutation is a change in whole chromosomes, rather than just individual genes
Gene mutations are much more common than chromosome mutations
Chromosome mutations tend to have more significant consequences for the phenotype of the
organism
Chromosome mutations can result in changes to chromosome number, such as in non-disjunction
you can read more about non-disjunction here
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A mutation that occurs when a nucleotide (with a new base) is randomly inserted into the DNA
sequence is known as an insertion mutation
An insertion mutation changes the amino acid that would have been coded for by the original base
triplet, as it creates a new, different triplet of bases
This is because every group of three bases in a DNA sequence codes for an amino acid
An insertion mutation also has a downstream effect by changing the triplets (groups of three bases)
further on in the DNA sequence
This is sometimes known as a frameshift mutation
This may dramatically change the amino acid sequence produced from this gene and therefore the
ability of the polypeptide to function
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A mutation that occurs when a nucleotide (and therefore its base) is randomly deleted from the DNA
sequence is known as a deletion mutation
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Like an insertion mutation, a deletion mutation changes the amino acid that would have been coded
for
Like an insertion mutation, a deletion mutation also has a consequent effect by changing the groups of
three bases further on in the DNA sequence
This is also sometimes known as a frameshift mutation
This may dramatically change the amino acid sequence produced from this gene and therefore the
ability of the polypeptide to function
Substitution of nucleotides
A mutation that occurs when a base in the DNA sequence is randomly swapped for a different base is
known as a substitution mutation
Unlike an insertion or deletion mutation, a substitution mutation will only change the amino acid for the
triplet (group of three bases) in which the mutation occurs; it will not have an effect downstream of
the mutation site
Substitution mutations can take three forms:
Silent mutations – the mutation does not alter the amino acid sequence of the polypeptide (this
is because certain codons may code for the same amino acid as the genetic code is degenerate)
Missense mutations – the mutation alters a single amino acid in the polypeptide chain (sickle cell
anaemia is an example of a disease caused by a single substitution mutation changing a single
amino acid in the sequence)
Nonsense mutations – the mutation creates a premature stop codon (signal for the cell to stop
translation of the mRNA molecule into an amino acid sequence), causing the polypeptide chain
produced to be incomplete and therefore affecting the final protein structure and function (cystic
fibrosis is an example of a disease caused by a nonsense mutation, although this is not always the
only cause)
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Your notes
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Your notes
Inversion mutations occur when a section of a gene is cut and then resealed after 180° inversion
Duplication of a gene
A whole gene or section of a gene is duplicated so that two copies of the gene/section appear on the
same chromosome
The original version of the gene remains intact and therefore the mutation is not harmful
Over a period of time, the second copy can undergo mutations which enable it to develop new
functions
Duplication mutations are an important source of evolutionary change
Alpha, beta and gamma hemoglobin genes evolved due to duplication mutations
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Duplication mutations occur when a gene is copied so that two versions of the same gene occur on the
same chromosome
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Translocation of a gene section
Similarly to inversion, a gene is cut in two places
The section of the gene that is cut off attaches to a separate gene
The result is the cut gene is now nonfunctional due to having a section missing and the gene that has
gained the translocated section is likely to also be nonfunctional
If a section of a protooncogene is translocated onto a gene controlling cell division, it could boost
expression and lead to tumors
Similarly, if a section of a tumor suppressor gene is translocated and the result is a faulty tumor
suppressor gene, this could lead to the cell continuing replication when it contains faulty DNA
Translocation mutations occur when a section of a gene is cut then resealed onto another gene
EXAMINER TIP
Mutagens are factors which increase the rate of mutation. Many mutagens are also categorized as
carcinogens if they lead to the development of cancerous cells, however, this is not true of all
mutagens.
There are also carcinogens which are not mutagens, they work by increasing cell division but do not
actually cause changes in the DNA. Also, in the exam, you will be expected to relate the nature of a
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Your notes
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Effects of Mutations
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Effects of Mutations
Mutations occur spontaneously and randomly during DNA replication
As the DNA base sequence determines the sequence of amino acids that make up a protein, mutations
in a gene can sometimes lead to a change in the amino acid sequence coded for by the gene
Most mutations do not alter the polypeptide or only alter it only slightly so that its structure or function
is not changed
Because in the genetic code, more than one triplet code codes for the same amino acid, some
mutations will not cause a change in the amino acid sequence
Substitution mutations are the mutations that usually have a smaller effect on the polypeptide and
the resultant phenotype
Some gene mutations change all base triplets downstream from (after) the mutation, this will result in a
nonfunctional polypeptide
Insertion and deletion mutations result in a frameshift
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The impact of trisomy 21 can vary between individuals, but some common features of the
syndrome are physical growth delays and reduced intellectual ability
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Individuals can also suffer from issues with sight or hearing
Other trisomy syndromes
There are other trisomy possibilities that can result from nondisjunction; many, but not all, have very
serious impacts on the phenotype of the offspring which may be fatal
Patau syndrome (trisomy 13) and Edwards syndrome (trisomy 18) are very serious syndromes which
result in many physical disabilities and developmental difficulties
Trisomy 18 and 13 both have very low survival rates with few babies surviving past their first birthday
Klinefelter's syndrome is caused by nondisjunction in sex chromosomes which leads to having the
chromosomes XXY
This syndrome is often not diagnosed until adulthood and doesn't impact life expectancy but
may have a negative effect on fertility
Turners syndrome also affects the sex chromosomes with individuals possessing just one X
chromosome
Individuals with Turner's syndrome would not necessarily have a reduced life expectancy,
although will often be shorter and may suffer some symptoms such as lack of sexual
development during puberty
EXAMINER TIP
A silent mutation is a change in the nucleotide sequence that results in the same amino acid
sequence. This is possible because some amino acids can be coded for by up to four different
triplet codon sequences. Silent mutations are often a change in the 2nd or 3rd base in the codon,
rather than the first.
For example, valine is coded for by four different triplet codon sequences (GUU, GUC, GUA and
GUG) – therefore, as long as the first two nucleotides in the codon are guanine and uracil the amino
acid valine will be inserted into the polypeptide.
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Your notes
Horizontal gene transmission can exchange DNA quickly and confer benefits eg antibiotic resistance
Viral Recombination
Sometimes, two virus strains coinfect the same host cell
The genetic material from the two strains interact with each other during viral replication, using the
host cell's replication machinery
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