Technological University (Kyaukse)

Industrial Biotechnology

Department of Biotechnology, TU (KSE) BioT – 42024 Industrial Biotechnology

 Strain Development

Mutation

Lecture 1

Department of Biotechnology, TU (KSE) BioT – 42024 Industrial Biotechnology

 Main purposes
 From wild type to mutant

 High product yield

 Low cost

Department of Biotechnology, TU (KSE) BioT – 42024 Industrial Biotechnology

 Mutation
 Spontaneous and Induce Mutation

 Point Mutation (Silence, Missense, Nonsense)

 Frameshift Mutation

Department of Biotechnology, TU (KSE) BioT – 42024 Industrial Biotechnology

 Errors of enzyme function

 DNA polymerase enzymes

 Recombination enzymes

 DNA repair enzymes

Department of Biotechnology, TU (KSE) BioT – 42024 Industrial Biotechnology

 Spontaneous and Induce Mutation

Spontaneous

 A result of natural changes in DNA structure

 All types of point mutation can occur spontaneously

Induce

 Result from changes caused by environmental chemicals or radiation

Department of Biotechnology, TU (KSE) BioT – 42024 Industrial Biotechnology

 Genome mutation
 changes in the number of chromosomes

Chromosome mutation
 change the order of the genes within the chromosome. (deficiency, deletion,
inversion, duplication, translocation)

Gene or point mutation

 changes in the base sequence in a gene

Department of Biotechnology, TU (KSE) BioT – 42024 Industrial Biotechnology

 Mutagen
Any environmental agent that
significantly increases the rate of
mutation above the spontaneous rate  Types of mutations

1. substitutions

2. deletions

3. insertion

Department of Biotechnology, TU (KSE) BioT – 42024 Industrial Biotechnology

 Substitution
 Substitution mutations are a type of mutation in which a single nucleotide is
substituted with a different nucleotide.

 Substitution mutation is sometimes referred to as point mutation.

 However, point mutation is defined particularly as a type of mutation involving a

change of only one nucleotide.

 A base pair in the wild type allele may be replaced by by another base in the
mutant allele.

Department of Biotechnology, TU (KSE) BioT – 42024 Industrial Biotechnology

 There are two situations!

Transition

 Occur when a purine is substituted with another purine or a pyrimidine is

substituted with another pyrimidine ( A to G or G to A, T to C or C to T)

Transversion

 When a purine is substituted for a pyrimidine or a pyrimidine replaces a purine (T

to C or A to G)

Department of Biotechnology, TU (KSE) BioT – 42024 Industrial Biotechnology

 Substitution mutations may also be typified into:

 silent mutations

 missense mutations

 nonsense mutations

Department of Biotechnology, TU (KSE) BioT – 42024 Industrial Biotechnology

 Silent mutation

 If a base substitution occurs in the third position of the codon there is a good
chance that a synonymous codon will be generated.

 Thus, amino acid sequence encoded by the gene is not changed and the mutation
is said to be silent

Figure – Source from Internet

Department of Biotechnology, TU (KSE) BioT – 42024 Industrial Biotechnology
 Missense mutation
 When base substitution results in the generation of a codon that specifies a
different amino acid and hence leads to a different polypeptide sequence

Figure – Source from Internet

Department of Biotechnology, TU (KSE) BioT – 42024 Industrial Biotechnology
 Nonsense mutation
 When a base substitution results in a stop codon ultimately trucating translation and
the most likely leading to a nonfunctional protein

Figure – Source from Internet

Department of Biotechnology, TU (KSE) BioT – 42024 Industrial Biotechnology
 Deletion
 One or more base pairs are lost from DNA

 One or two bases are deleted the translational frame is altered resulting in grabled
message and non functional product

 Deletion of three or more bases leave the reading frame intact

 A deletion of one or more codons results in a protein missing one or more amino
acids. This may be deleterious or not

Department of Biotechnology, TU (KSE) BioT – 42024 Industrial Biotechnology

 Insertion

 The insertion of additional base pairs may lead to frameshifts depending on

whether or not multiples of three base pairs are inserted.

 Combination of insertion and deletions leading to a variety of outcomes are also

possible.

Department of Biotechnology, TU (KSE) BioT – 42024 Industrial Biotechnology

 Point Mutation
 A point mutation is a genetic mutation where a single nucleotide base is changed,
inserted or deleted from a sequence of DNA or RNA.

 Point mutation occurs when a base pair of a gene is changed.

 Point mutation may also pertain to substitution mutation when one nucleotide is
substituted with a different nucleotide.

 Point mutations are the most common types of mutation and there are two types;

1.transition

2.transversion

Department of Biotechnology, TU (KSE) BioT – 42024 Industrial Biotechnology

  Point mutation occurring in noncoding sequences often does not result in an
altered amino acid sequence during translation.

 However, if a mutation in the promoter sequence of a gene occurs, the effect may
be apparent since the expression of the gene may cause changes in the amino acid
sequence, as well as the structure and function of the protein product.

 Sometimes, point mutation also covers mutations caused by single nucleotide

insertions or deletions (which are types of frameshift mutation).

 Point mutations that occur in DNA sequences encoding proteins are either silent,
missense or nonsense

Department of Biotechnology, TU (KSE) BioT – 42024 Industrial Biotechnology

 Figure – Source from Internet
Department of Biotechnology, TU (KSE) BioT – 42024 Industrial Biotechnology
 Frameshift Mutation

 A mutation caused by the addition or deletion of a base pair or base pairs in the DNA
of a gene resulting in the translation of the genetic code in an unnatural reading
frame from the position of the mutation to the end of the gene.

Department of Biotechnology, TU (KSE) BioT – 42024 Industrial Biotechnology

 Figure – Source from Internet
Department of Biotechnology, TU (KSE) BioT – 42024 Industrial Biotechnology