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Understanding Frameshift Mutations
1. GURU NANAK INSTITUTE OF PHARMACEUTICAL SCIENCEAND
TECHNOLOGY
NAME OF THE STUDENT :
PAPER NAME : MICROBIAL GENETICS
Maulana Abul Kalam Azad University of
SRIMOYEE NATH
UNIVERSITY ROLL NUMBER: 31308421004
ACADEMIC SESSION : 2022-23
PAPER CODE: CMC - 301
TOPIC : FRAME-SHIFT MUTATION
2. INTRODUCTION
Frame Shift Mutation
Frameshift mutations are insertions or deletions in the genome that
are not in multiples of three nucleotides.
They are a subset of insertion-deletion (indel) mutations that are
specifically found in the coding sequence of polypeptides. Here the
number of nucleotides that are added or removed from the coding
sequence are not multiples of three.
They can arise from extremely simple mutations such as the
addition or removal of a single nucleotide.
Frameshift mutations do not include substitutions where a nucleotide
replaces another. In substitution mutations, the polypeptide only
changes by a single amino acid.
Causes
Frameshift mutations are caused by the addition or deletion of
nucleotides from a DNA sequence, resulting in the shift of frame.
Substitution cannot result in frameshift mutation as it requires
the production of a completely different amino acid product.
.
Frameshift mutations can occur in both the single-stranded and
double-stranded DNA as a result of different causes.
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3. BODY
Mechanism
The Frameshift Mutations are based on this 2
mechanism.
Deletion-
o Deletion of the DNA segment occurs in anaphase movement or during reorganizing of
the nuclei or digestion by nucleases.
o Deletion can either be terminal or intercalary, where the terminal deletion results from the
removal of the terminal section of a chromosome. Deletion is the more common
mechanism of frameshift mutation that produces a change in the reading frame.
Insertion-
o Insertion is the addition of nucleotides into a DNA sequence in a way that changes the
reading frame of the sequence.
o It occurs within the microsatellite regions of the DNA in the presence of DNA
polymerase. The number of nucleotides and the position of insertion can be different
and also determines the severity of the mutation.
Effects
o A protein with a changed coding sequence may be unusable or a totally different
protein. As a result, a variety of metabolic processes may be disrupted.
o An abrupt halt to the translation process results in non-usable protein, which has
ramifications for the physiological systems involved.
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4. BODY
A frameshift mutation can also lead to cellular translational process abnormalities. This can cause the
cell’s translation machinery to malfunction. As a result, a high number of misfolded proteins may develop,
which might be fatal to a cell. Frameshift mutations cause Crohn’s illness, cystic fibrosis, and some kinds of
cancer.
Applications of Frameshift Mutation-
Frameshift mutation can also be induced as a form of molecular therapy to cure and prevent different
hereditary and genetic diseases.
Frameshift mutation can also be used as a means to target cancer cells and their proteins to prevent such
diseases.
Codons occur from Frameshift Mutation-
Sense Codons: are codons that are read in the same way they were before frameshift mutation
Missense Codons: these are codons that result in the production of an erroneous or different amino
acid.
Non-sense Codons: these are codons for which no matching tRNA exists, causing the translation
process to be truncated.
Examples of Frameshift Mutation-
An example of frameshift mutation can be observed in the case of Crohn’s disease. The disease is
associated with the NOD2 gene.
A mutation occurs due to the insertion of the cytosine nucleotide at the 3020 position on the gene.
This changes the codon to a stop codon which then results in the formation of a shortened protein.
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5. CONCLUSION
SUMMARY
Summary of the whole-
In this presentation we came to know about Frameshifting Mutation. Frameshift mutation is a
form of gene mutation in which the addition or deletion of one or more nucleotides produces a
shift in the reading frame of the codons in the mRNA, which can result in an amino acid
sequence change during protein translation.
We came to know that A frameshift mutation in a gene refers to the insertion or deletion of
nucleotide bases in numbers that are not multiples of three. This is important because a cell
reads a gene’s code in groups of three bases when making a protein.
Apart from Insertion and deletion we came to know about other causes of frameshifting and the
effects of them that they are extremely likely to lead to large-scale changes to polypeptide
length and chemical composition, resulting in a non-functional protein that often disrupts the
biochemical processes of a cell. Frameshift mutations can lead to a premature end to
translation of the mRNA as well as the formation of an extended polypeptide.
We also came to know about the various applications of frameshift mutation that it has been
associated with the diagnosis of various diseases and helps to cure many Genetic and
Hereditary diseases.
Not only about the application, we also came across different codons which form from
frameshifting mutations namely (Sense Codon , Missense Codon and Non-Sense Codon) and
atlast we came across few examples of Frameshift Mutations.
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6. REFERENCE
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References-
I would like to give special thanks to this sites for helping me complete this presentation-
https://biologydictionary.net/frameshift-mutation/
https://thebiologynotes.com/frameshift-mutation/
https://researchtweet.com/frameshift-mutations-definition-examples/