Gene mutations

1. The permanent alterations of DNA sequence of a gene are called gene mutations.
2. They may occur due to rare errors during DNA replication.
3. These are called spontaneous mutations.
4. In addition, certain external factors can also cause mutations at a higher rate.
5. Since these factors generate mutations, they are called mutagens.
6. Mutagenic agents can be classified as chemical or physical factors.
7. X-rays and UV rays are examples for mutagenic physical agents.
8. Sodium azide, ethyl methane sulfonate are examples for chemical mutagens.
9. The mutagenic agents can introduce mutations to replicating DNA in a cell.
10. Mutations are also the cause of carcinogenesis.
11. Gene mutations are small-scale mutations involving only one nucleotide pair or more than one
nucleotide pair in a gene.
12. If only one pair is altered, these are called point mutations.
13. There are three types of gene mutations. They are:
14. 1. A single nucleotide pair substitution – change one nucleotide pair with another
15. 2. Nucleotide pair insertions – addition of one or more nucleotide pairs
16. 3. Nucleotide pair deletions – removal of one or more nucleotide pairs
17. The substitution of a pair of nucleotide is a point mutation.
18. Insertions or deletions can be point mutations, or may involve more than one nucleotide pair.
19. In substitution one nucleotide pair is replaced by another pair and no change in the length of
the gene.
20. Because the same amino acid may be coded by more than one codon some substitutions are
silent mutations.
21. The third letter in the codon triplet has a wobble,
22. meaning that even if the third letter of a codon is replaced by another letter the same amino
acid is coded in the third letter
23. A substitution may also change one amino acid in the polypeptide.
24. Therefore, the meaning of the primary structure of the polypeptide is changed slightly
25. these mutations are missense mutations.
26. which may or may not have significant impact on the tertiary or quarternary structure
(functional form) of the protein.
27. Occasionaly, this may render the protein a higher activity or even with new properties.
28. however, very often, these changes are either neutral or detrimental, making the protein
useless or less efficient.
29. It is also, possible that a point mutation converts a codon coding for an amino acid to a stop
codon.
30. This causes premature termination of the protein synthesis, and is called non-sense mutation
31. The result is a shorter polypeptide than original, which is usually non functional.
32. Insertion and deletion bring about drastic changes in polypeptides compared to substitutions

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33. Insertion or deletion of a nucleotide or a couple of nucleotides will result in shift in the reading
frame, reading wrong codons after the point of mutation.
34. Therefore, such mutations are called frameshift mutations
35. resulting in extensive missense.
36. The polypeptide may not be functional at all, unless the insertion or deletion occurred is very
close to the termination codon.
37. It may also introduce a new stop codon, causing termination causing nonsense mutation.
38. However, if the insertion or deletion is a triplet or a multiple triplet, the reading frame, will be
back to the original reading frame immedietly after the point of mutation
39. In such cases, one or a small number of amino acids will be added or removed, respectively
from the entire sequence.
40. The message will only be slightly changed and the polypeptide may be functional, depending
on the importance of the mutated region of the polypeptide in its correct folding.
41. Mutations are a source of genetic variation within the gene pool of a population
42. Altered version of a gene may bring about a favorable trait which may be subjected to natural
selection
43. Will increase in frequency over generations.
44. If mutation brings about a deleterious effect on the organism it will be perished with time.