Deletion Mutation – Definition, Causes, Mechanism, Examples

What is Deletion Mutation?

  • In the realm of genetics, a deletion mutation, often denoted by the symbol Δ, refers to a specific type of genetic aberration where a segment of a chromosome or a DNA sequence is omitted during the DNA replication process. This phenomenon can range in scale, from the removal of a singular nucleotide base to the exclusion of an entire chromosomal segment.
  • The genesis of such deletions can be attributed to multiple factors. Chromosomes, in certain instances, possess fragile regions prone to breaks. These breaks can be instigated by various external agents such as heat, radiation, viruses, or specific chemical reactions. When such a break culminates in the loss of a chromosomal segment, it is termed as a deletion or deficiency. Furthermore, during the intricate process of synapsis, if a chromosome with a significant intercalary deficiency pairs with a normal, complete homolog, the unpaired segment of the normal homolog must form a deletion or compensation loop to facilitate the process.
  • On a microscopic scale, the smallest of deletion mutations transpire when a single base in the template DNA undergoes a “flipping” action. This is followed by a slippage of the template DNA strand within the active site of the DNA polymerase. Such mutations can be consequential, especially if they do not occur in multiples of three bases. This can induce a frameshift, altering the 3-nucleotide protein reading frame of the genetic sequence, leading to significant genetic repercussions.
  • The causative factors behind deletions also encompass errors during the chromosomal crossover in meiosis. Such errors can lead to a myriad of genetic disorders. It’s imperative to note that deletions are characteristic of eukaryotic organisms, including humans, and are not observed in prokaryotic entities like bacteria.
  • In essence, a deletion mutation is a genetic error that results in the removal of nucleotides from the genome. The ramifications of such mutations are contingent on their location within the gene and the number of nucleotides excised. While some deletions might be benign, others can have profound effects on the organism, especially if they disrupt the triplet codon reading frame or lead to the omission of entire amino acids in protein synthesis.
  • Despite the potential severity of deletion mutations, their occurrence, especially those that are inheritable, is relatively rare. This rarity can be attributed to the precision of the polymerase enzyme and the corrective actions of exonuclease, which excises mismatched DNA segments. Consequently, phenotypic changes resulting from deletion mutations are infrequent, ensuring the stability and integrity of genetic information across generations.
  • In conclusion, deletion mutations play a pivotal role in the study of genetics, offering insights into the intricate mechanisms of DNA replication and the factors that can disrupt this process. Understanding these mutations is crucial for deciphering the complexities of genetic disorders and advancing the field of genetic research.

Definition of Deletion Mutation

A deletion mutation is a genetic anomaly in which a segment of a chromosome or DNA sequence is omitted during DNA replication, leading to the absence of specific nucleotides or entire chromosomal segments. This can result in altered gene function or expression.

Deletion Mutation
Deletion Mutation

Causes of Deletion Mutation

Deletion mutations, characterized by the omission of specific DNA sequences or chromosomal segments, arise due to various genetic mechanisms. Understanding the underlying causes of these mutations is pivotal for genetic research and diagnostics. Herein, we delve into the primary mechanisms responsible for deletion mutations:

  1. Losses from Translocation: Translocation refers to the process where segments of chromosomes interchange their positions. During this phenomenon, if a segment from one chromosome is not accurately reattached or is lost, it results in a deletion mutation in that particular chromosome.
  2. Chromosomal Crossovers within a Chromosomal Inversion: Chromosomal inversion is a situation where a segment of a chromosome is reversed end-to-end. When chromosomal crossovers, or exchanges of genetic material, occur within this inverted segment, it can lead to misalignments and subsequent deletions of specific genetic sequences.
  3. Unequal Crossing Over: During meiosis, homologous chromosomes pair up and may exchange genetic material in a process known as crossing over. Unequal crossing over occurs when the exchanged segments are not of equal length, leading to one chromosome gaining extra genetic material while the other loses some, resulting in a deletion mutation in the latter.
  4. Breaking without Rejoining: Occasionally, chromosomes may undergo breakage due to various factors such as radiation, chemicals, or inherent fragility. If the broken ends of a chromosome do not rejoin correctly or remain unrepaired, it leads to the loss of the segment, culminating in a deletion mutation.

In summation, deletion mutations emerge from intricate chromosomal interactions and aberrations. These mechanisms, ranging from translocations to chromosomal breakages, underscore the complexity of genetic processes and the delicate balance required for maintaining genomic integrity.

Mechanism of Deletion Mutation

Deletion mutations occur when a segment of DNA is lost or deleted. The mechanisms underlying these mutations are diverse, and the consequences can range from negligible to severe, depending on the location and size of the deletion. Here’s a step-by-step breakdown of how deletion mutations occur, illustrated with an example:


1. DNA Replication Initiation:

  • DNA replication begins with the unwinding of the double helix by DNA helicase, creating a replication fork.

Example: Imagine a DNA sequence as “5’-ATG CGT TAC GGA-3’”.


2. Slippage Event:

  • During replication, DNA polymerase, the enzyme responsible for adding nucleotides, may slip and misread the template strand. This slippage can lead to the omission of nucleotides.

Example: The DNA polymerase might skip reading the “CGT” segment.


3. Mismatched Pairing:

  • If the slipped strand pairs with a normal strand during replication, it can lead to a mismatch.

Example: The slipped strand “5’-ATG TAC GGA-3’” pairs with its complementary strand.


4. Completion of Replication:

  • DNA replication proceeds, and the daughter strand lacks the segment that was skipped.

Example: The replicated DNA now reads “5’-ATG TAC GGA-3’” and “3’-TAC ATG CCT-5’”.


5. Resultant Deletion Mutation:

  • The final product is a DNA molecule with a missing segment, leading to a deletion mutation.

Example: The “CGT” segment is absent in the new DNA molecule.

6. Protein Synthesis and Frameshift:

  • When the mutated DNA undergoes transcription and translation, the deletion can cause a frameshift if it’s not a multiple of three nucleotides. This frameshift alters the reading frame, leading to a different sequence of amino acids.

Example: If “CGT” codes for the amino acid arginine, its absence might lead to a protein without this amino acid. If the deletion causes a frameshift, it can produce an entirely different protein.

7. Phenotypic Consequences:

  • Depending on the gene affected and the size of the deletion, the organism might exhibit various phenotypic changes.

Example: If the deleted segment is crucial for the function of a protein, the organism might display abnormalities or diseases.

Deletion mutations arise due to errors during DNA replication, often from strand slippage. The consequences of these mutations depend on their location, size, and the genes they affect. While some deletions might be harmless, others can lead to severe genetic disorders or diseases.

Types of Deletion Mutation

Deletion mutations, characterized by the removal of specific segments from DNA or chromosomes, manifest in various forms, each with distinct characteristics and implications. To provide a comprehensive understanding, let’s categorize and elucidate the primary types of deletion mutations:

  1. Terminal Deletion: This type of deletion pertains to the removal of a segment located towards the terminus or end of a chromosome. Such deletions can impact the stability of the chromosome and may lead to genetic disorders or abnormalities, depending on the genes located in the deleted segment.
  2. Intercalary or Interstitial Deletion: As the name suggests, intercalary deletions occur within the interior regions of a chromosome, rather than at the ends. Such deletions can disrupt multiple genes if they span large chromosomal segments, potentially leading to phenotypic changes or genetic disorders.
  3. Microdeletion: Microdeletions are characterized by the removal of relatively small chromosomal segments, typically encompassing up to 5Mb. Despite their limited size, these deletions can have significant implications, especially if they encompass critical genes. For instance, children with microdeletions often present with distinct physical abnormalities. It’s worth noting that the term “micro” refers to the size of the deletion and not its impact, as even minute deletions can have profound effects depending on the genes involved.
  4. Large-Scale Deletions: Contrary to microdeletions, extensive chromosomal deletions involve the removal of substantial segments. Such deletions often have severe consequences, leading to genetic inviability. In many cases, embryos with large-scale deletions undergo spontaneous abortion or miscarriage due to the significant genetic disruption.

In conclusion, deletion mutations, though broadly categorized under a single umbrella, manifest in diverse forms, each with unique genetic implications. Understanding these types is pivotal for genetic diagnostics, research, and therapeutic interventions.

Effects of Deletion Mutation

Deletion mutations, characterized by the removal of specific DNA segments, can have profound effects on an organism’s genetic makeup and overall health. The consequences of these deletions vary based on the size, location, and genes involved. Let’s delve into the multifaceted impacts of deletion mutations:

  1. Size-Dependent Effects:
    • Small Deletions: These are often less detrimental, with the organism potentially surviving the mutation. However, the specific genes affected can determine the severity of the outcome.
    • Large Deletions: Typically, extensive deletions result in fatal outcomes due to the significant loss of genetic information.
    • Medium-Sized Deletions: Some of these deletions can lead to distinct genetic disorders. For instance, Williams syndrome arises from a specific medium-sized deletion.
  2. Frameshift and In-Frame Deletions: Deletions that are not a multiple of three nucleotides can induce frameshift mutations. This alteration disrupts the reading frame during protein translation, often yielding nonfunctional proteins. Conversely, deletions divisible by three, termed in-frame deletions, do not disrupt the reading frame, though they can still affect protein function.
  3. Associated Genetic Disorders: Deletion mutations are implicated in various genetic disorders:
    • Duchenne muscular dystrophy and cystic fibrosis (ΔF508 variant) are linked to specific deletions.
    • Cri du chat syndrome results from a deletion on chromosome 5’s short arm.
    • Spinal muscular atrophy arises from deletions in the SMN-encoding gene.
  4. Microdeletions and Syndromes: Microdeletions, though small, can lead to severe conditions such as Angelman Syndrome, Prader-Willi Syndrome, and DiGeorge Syndrome. Intriguingly, the same microdeletion can manifest as different syndromes based on its parental origin, as observed in Angelman and Prader-Willi syndromes.
  5. Evolutionary Implications: Some deletions, particularly those in highly conserved sequences (CONDELs), might play a role in evolutionary divergence. For instance, hCONDELs in humans could account for the distinct anatomical and behavioral traits distinguishing humans from other primates.
  6. Tumor Suppressor Deletions: Recent studies on TCGA cohorts indicate that tumors typically harbor around 12 driver events, with approximately 2.1 being deletions of tumor suppressor genes. These deletions can contribute to cancer progression and severity.

In summary, deletion mutations, though a single category of genetic aberrations, manifest diverse effects ranging from benign to lethal. Their comprehensive understanding is pivotal for genetic diagnostics, therapeutic interventions, and evolutionary biology studies.

Examples of Deletion Mutation

Deletion mutations, characterized by the removal of specific nucleotide sequences from DNA, can have profound implications on genetic expression and protein synthesis. To elucidate the concept further, let’s delve into specific examples and historical discoveries related to deletion mutations:

  1. Single Nucleotide Deletion: Consider the following hypothetical DNA sequences:
    Original DNA: 5’ TAC CCA GGG 3’ 3’ ATG GGT CCC 5’
    After Deletion Mutation: 5’ TAC CCA GG 3’ 3’ ATG GGT CC 5’
    In this representation, a single nucleotide pair is deleted. If this deletion were to occur at the terminus of a DNA molecule, the resultant protein might lack the final amino acid. However, deletions typically manifest within genes or chromosomes, leading to a shift in the DNA sequence, known as a frameshift mutation. Alternatively, a new nucleotide might be introduced, termed an insertion mutation. The persistence of such mutations depends on the organism’s DNA repair mechanisms and the cellular context in which they arise.
  2. Intragenic Suppression and the Discovery of the Genetic Code: In the mid-20th century, scientists Francis Crick and Sydney Brenner embarked on groundbreaking research using mutant strains of bacterial viruses. They subjected these viruses to mutagenic agents and observed the resultant genetic alterations. Intriguingly, they discerned that certain gene functions, initially disrupted by mutations, could be restored by a combination of genetic changes, now recognized as insertion and deletion mutations. While the intervening DNA sequence became non-functional, the insertion counterbalanced the deletion, realigning the gene’s reading frame and averting a frameshift mutation. This phenomenon was termed “intragenic suppression.”Through meticulous analysis of how individual mutations influenced protein synthesis, Crick and Brenner postulated the existence of a triplet genetic code, a foundational concept in molecular biology. Their work illuminated the universality of this code across organisms and underscored the intricate interplay between deletion and insertion mutations.

In summary, deletion mutations, while seemingly simple, have profound implications on genetic expression and have been instrumental in advancing our understanding of molecular genetics. Their study has not only provided insights into genetic mechanisms but has also paved the way for seminal discoveries in the field of genetics.

Quiz Practice

What is a deletion mutation in genetics?
a) An addition of a nucleotide sequence in DNA.
b) A substitution of one nucleotide for another.
c) A removal of a segment of DNA.
d) A replication of a segment of DNA.

Which type of deletion mutation occurs towards the end of a chromosome?
a) Intercalary deletion
b) Terminal deletion
c) Microdeletion
d) Macrodeletion

Deletions that are not in multiples of three bases can result in:
a) A silent mutation
b) A missense mutation
c) A frameshift mutation
d) A nonsense mutation

Which syndrome is NOT associated with microdeletions?
a) Williams syndrome
b) Down syndrome
c) Angelman Syndrome
d) Prader-Willi Syndrome

Which factor does NOT induce chromosomal breaks leading to deletion mutations?
a) Heat
b) Viruses
c) Radiation
d) Oxygen

A deletion mutation that removes a single nucleotide is termed as:
a) Terminal deletion
b) Intercalary deletion
c) Microdeletion
d) Macrodeletion

Which of the following diseases is NOT caused by a deletion mutation?
a) Duchenne muscular dystrophy
b) Cystic fibrosis
c) Sickle cell anemia
d) Cri du chat syndrome

Which type of deletion mutation occurs from the interior of a chromosome?
a) Terminal deletion
b) Intercalary deletion
c) Microdeletion
d) Macrodeletion

Deletion mutations can be caused by errors in:
a) Transcription
b) Translation
c) Chromosomal crossover during meiosis
d) Protein synthesis

Which of the following is a consequence of a large deletion mutation?
a) Enhanced protein function
b) Immediate abortion or miscarriage
c) Increased genetic diversity
d) Activation of silent genes


What is a deletion mutation?

A deletion mutation refers to the removal or loss of a segment of DNA, which can range from a single nucleotide to a larger section of a chromosome.

How does a deletion mutation occur?

Deletion mutations can arise from errors during DNA replication, chromosomal crossovers in meiosis, exposure to radiation, chemicals, or viruses, and other factors that induce breaks in the DNA.

What is the difference between a microdeletion and a macrodeletion?

A microdeletion involves the removal of a relatively small segment of DNA, often affecting a few genes, while a macrodeletion refers to the loss of a larger segment, potentially impacting multiple genes.

Are all deletion mutations harmful?

Not all deletion mutations are harmful. The impact of a deletion mutation depends on its size, location, and the genes affected. Some deletions may have no noticeable effect, while others can lead to severe genetic disorders or be fatal.

What is a frameshift mutation in the context of deletion mutations?

A frameshift mutation occurs when the deletion of nucleotides is not in multiples of three, causing a shift in the reading frame during protein synthesis. This can result in the production of a nonfunctional or altered protein.

Can deletion mutations be passed on to offspring?

Yes, if the deletion mutation occurs in the gamete-producing cells (sperm or egg cells), it can be inherited by the offspring.

What are some examples of disorders caused by deletion mutations?

Some disorders caused by deletion mutations include Duchenne muscular dystrophy, cystic fibrosis, and Cri du chat syndrome.

How are deletion mutations detected?

Deletion mutations can be detected using various genetic testing techniques, including karyotyping, fluorescence in situ hybridization (FISH), and DNA sequencing.

Can deletion mutations be corrected?

Currently, there is no way to reverse a deletion mutation in an organism’s entire body. However, advancements in gene therapy and CRISPR technology offer potential avenues for treating certain genetic disorders caused by deletions.

Are deletion mutations more common in certain organisms or regions of DNA?

Deletion mutations can occur in any organism. However, certain regions of DNA, known as fragile sites, are more susceptible to breaks and deletions. The frequency of deletions can also vary based on environmental factors and the organism’s DNA repair mechanisms.

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