Spontaneous mutation (short answer)
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Spontaneous Mutation
Spontaneous mutations are mutations that arise naturally in cells without the influence of any external mutagen (like radiation or chemicals).
They occur due to errors in normal cellular processes, mainly during DNA replication, repair, or recombination.
These mutations are random and occur at a low but constant rate.
Causes of Spontaneous Mutations
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Errors in DNA replication (most common)
-
Tautomeric shifts in nitrogen bases
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Spontaneous deamination (e.g., cytosine → uracil)
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Depurination (loss of purine base: A or G)
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Oxidative damage due to reactive oxygen species (ROS)
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Slippage during replication (in repetitive sequences)
Types of Spontaneous Mutations
1. Base Substitution (Point Mutation)
A single base is changed, inserted, or deleted.
(a) Transition
One purine ↔ another purine (A ↔ G)
or
One pyrimidine ↔ another pyrimidine (C ↔ T).
(b) Transversion
Purine ↔ pyrimidine
(A ↔ C / A ↔ T / G ↔ C / G ↔ T)
2. Frameshift Mutation
Caused by insertion or deletion of one or two bases during replication.
This shifts the reading frame and produces a completely altered protein.
Occurs commonly due to slippage in repetitive DNA sequences.
3. Spontaneous Depurination and Depyrimidination
Loss of a base from DNA:
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Depurination: loss of A or G (more common)
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Depyrimidination: loss of C or T
This creates an AP site (apurinic/apyrimidinic).
DNA polymerase may insert the wrong base → mutation.
4. Spontaneous Deamination
Removal of an amino group from bases:
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Cytosine → Uracil
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Adenine → Hypoxanthine
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Guanine → Xanthine
This leads to incorrect base pairing.
5. Tautomeric Shifts
Nitrogen bases temporarily shift to rare forms (tautomers).
Example:
-
Keto ↔ Enol
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Amino ↔ Imino
This causes mispairing, e.g.,
T (enol form) pairs with G instead of A.
6. Errors During Recombination
During meiosis, unequal crossing over can generate:
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Deletions
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Duplications
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Inversions
Summary Table
| Type of Spontaneous Mutation | Description |
|---|---|
| Transition | Purine ↔ purine or pyrimidine ↔ pyrimidine |
| Transversion | Purine ↔ pyrimidine |
| Frameshift | Insertion/deletion causing reading-frame shift |
| Depurination | Loss of A or G base |
| Deamination | Removal of amino group; C→U |
| Tautomeric shift | Rare base forms causing mispairing |
| Recombination errors | Unequal crossing over → deletions/duplications |
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