Epistasis: Definition, Meaning Types, Examples, Causes, Explanation

Epistasis: Definition, Meaning Types, Examples, Causes, Explanation

Edited By Irshad Anwar | Updated on Jul 02, 2025 06:16 PM IST

What Is Epistasis?

Epistasis therefore is a gene interaction that may suppress the effects of a gene by another gene. This concept is critical in dealing with genetics since it aids in understanding how various genes can make organisms develop various characteristics that cannot be foretold based on the features of different genes.

Epistasis: Definition, Meaning Types, Examples, Causes, Explanation
Epistasis: Definition, Meaning Types, Examples, Causes, Explanation

Epistasis is significant in the knowledge of the broader picture of genetics and the ways through which it is inherited. In this article, the subject of gene interactions will be briefly discussed aiming to give important information to the reader about the epistasis model and how it complicates the expressions of certain traits.

Basic Concepts

The genetics related to this topic involve the basics of genes, alleles, genotype, phenotype, and the relationship between them in explaining how traits are inherited and expressed.

Gene: Definition And Function

A gene is a section of DNA that contains information on the production of proteins or RNA, these being essential components of an organism’s formation and operations. These hereditary units influence many characteristics and biological phenomena by dictating the synthesis of molecules, specifically proteins, which execute certain tasks in cells.

Alleles: Dominant And Recessive

Alleles are other forms of a single gene that are brought about by mutation of the genetic material. The result shows that dominant alleles hide recessive alleles in a heterozygous person. For instance, if a gene contains a dominant allele for brown-eyed and a recessive allele for blue-eyed, then the characteristic owned by the brown allele will be inherited.

Genotype Vs. Phenotype

Genotype can be described as the total of genetic factors followed by an organism or the sum of allelic components for a given gene. carrying genotype in combination with a certain environment produces the manifestation of the phenotype or the physical trait. For instance, BB or Bb genotype may give a phenotype of brown eye colour.

Types Of Epistasis

Epistasis are classified as:

Recessive Epistasis

Recessive epistasis is said to occur when a recessive gene in an organism affects the manifestation of genes located at other regions of the same chromosome. This indicates that an organism that is homozygous for a gene can hinder the phenotype that is linked with another gene.

Examples: In Labrador retrievers, coat color is therefore controlled by two genes meaning that the color of the coat you find attractive will be controlled by these two genes. The E gene contributes to colour and the B gene is related to black/brown. At locus E, the non-expression of the B gene due to the recessive e allele leads to the yellow coat colour as it does no matter the status of the B allele.

Dominant Epistasis

Dominant epistasis happens when a dominant allele at a particular locus overrides the impression of alleles at the other locus. The first gene means that the gene submits the other gene’s work and always controls the phenotypes, be it with a dominant or recessive allele.

Examples: In the case of squash fruit colour the alleles present in one locus W are capable of overwhelming or effectively hiding the wild-type allele gene Y. Any plant that has at least one megasporangium W allele will produce white squash, the colour of the fruit depending on the number of recessive w alleles and dominant Y alleles.

Duplicate Recessive Epistasis

The recessive epistasis deal represents a case when one of the two different recessive genes can hide another gene. Since phenylketonuria is dominant both genes require the presence of at least one dominant allele; otherwise, the recessive alleles at that particular loci will nullify the expression of this trait.

Examples: ATD and TAD can lead to albino conditions in plants and selfishness of recessive alleles at either of the two different loci. If a plant inherits an indicator other than a dominant allele at both the loci, then it will be an albino irrespective of the other alleles being a feature of the plant.

Duplicate Dominant Epistasis

Dominant duplicate epistasis takes place when a dominant allele at one locus can suppress a second gene at another locus. The dominant allele at either of the loci prevents the expression of the trait; the presence of one gene with one of its alleles produces the same phenotype independent of the other gene’s alleles.

Examples: In fruit shape, in shepherd’s purse, the complete dominance of alleles at one of the two loci, causes an absolute expression of the specific trait of that locus, thereby obliterating the effect of alleles at the other locus. Organisms which are heterozygous or carry the dominant allele at either the l or LOCI will exhibit the dominant trait of fruit shape.

Complementary Gene Interaction

Complementary gene interaction takes place when two different;

traits are the complex result of several genes that need to act in harmony in the process of synthesizing a particular characteristic. Homozygous dominant alleles of both genes are required for the phenotype to be expressed; if one of the genes contains recessive alleles there is no phenotype.

Examples: In flower color in sweet peas therefore the C gene which determines color and the P gene which determines pigment must both be dominant. Flowers will be white if both genes are recessive or if only one of them is recessive because the other will be dominant.

Case Studies

A Few detailed examples to understand epistasis are:

Detailed Case Study 1: Coat Color In Mice

The coat color in mice is polygenically determined which proves the presence of various forms of gene interactions. There is, for instance, recessive epistasis that includes the Agouti and Extension genes or loci. The A gene controls where the pigment is delivered and the E gene controls the production of the pigment.

If the mouse were created from a matting of two heterozygous mice that had the recessive e allele, the mouse would still have a yellow coat even if it had two dominant non-yellow genes at the A locus. On the other hand, the dominant E allele enables the A locus to produce black/brown pigments. Such an interaction provides an example of how recessive epistasis can hide the other genes and their impact on the final phenotype.

Detailed Case Study 2: Human Eye Color

Eye colour in human beings is a classic example of a polygenic trait or one that is controlled by multiple genes. The diagnostically most imperative gene groups for eye colour are OCA2 and HERC2. Changes in these genes range from blue-eyed to green-eyed to even brown-eyed individuals is thus due to this belief.

These genes work synergistically and, therefore, their allelic variations are additive, formerly, different sets of alleles of these genes contribute to the existing variety of eye colour. For instance, multiple dominant alleles for brown eyes will cause the frequency of brown eyes plus multiple recessive alleles for light-coloured eyes will also lead to light-coloured eyes.

Detailed Case Study 3: Flower Color In Morning Glory

That means that in Morning Glory, flower colour is brought about by gene complementary. Thereby, to have part or full-coloured flowers the ‘C’ gene for colour and the ‘P’ gene for pigment production must possess at least one dominant allele. If either of the genes has the recessive alleles, that is cc or pp, the flowers will be white. This often-used interaction shows how two different genes can combine to give one characteristic. This case study brings out the factor of complementary gene interaction in which the phenotypic character is only observed when both genes possess dominant alleles.

Recommended video for "Epistasis"


Frequently Asked Questions (FAQs)

1. What is epistasis in genetics?

Epistasis is a kind of gene interaction where the manifestation of one gene is dependent on or suppressed by one or more other genes. In other words, it arises when the action of alleles of one gene depends on the alleles in another gene, the relative contribution of which to the phenotype of a given organism. 

2. What is epistasis in genetics?
Epistasis is a type of gene interaction where one gene masks or modifies the expression of another gene at a different locus. It results in phenotypic ratios that deviate from typical Mendelian inheritance patterns, as the effect of one gene depends on the presence or absence of another gene.
3. How does epistasis differ from dominance?

Domination is applied in genetics and it defines the connection between two alleles of a single gene whereby one of the alleles controls or hides the other, the latter being recessive. However, epistasis is different from the above concept as it is a gene-gene interaction in which the phenotypic effect of one gene may change or mask the effects of the other gene’s alleles.

4. How does epistasis differ from dominance?
Epistasis involves interactions between different genes, while dominance refers to interactions between different alleles of the same gene. In epistasis, one gene can mask or modify the effects of another gene, whereas dominance determines which allele's trait is expressed when two different alleles are present.
5. Can you give an example of epistasis?

Labrador retrievers are a typical example of epistasis; in this case, it is the coat colour. The E gene affects the colour and the B gene affects black/brown in this case, the ‘e’ recessive allele from the E locus overpowers the B gene and all that is seen is a yellow coat regardless of the alleles of the B gene. 

6. Why is epistasis important in genetics?

This situation contributes to our understanding of how epistasis works, given that it is concerned with finding out how multiple genes work in harmony to determine various complicated characteristics in phenotypes. Epistasis enhances the knowledge of genetic control, patterns of inheritance, and the molecular events related to genetic diseases because it reduces the prediction of genetic results and individualized medical care.

7. How is epistasis detected in genetic studies?

In epistasis, there is recognition of gene interaction due to the conformation of genetic analysis with the concept of inheritance with the help of a pedigree chart. Poets employ breeding test investigations, analytical testing, and gene mapping to find interaction and check how the existence or lack of particular alleles influences the other genes. This has to do with comparing phenotypic ratios and attempting to associate them with the genotypic information to establish patterns suggestive of epistatic interactions.

8. How does epistasis contribute to genetic robustness?
Epistasis contributes to genetic robustness by creating redundancy and buffering in genetic systems. When multiple genes interact, the effect of a mutation in one gene may be masked or compensated for by other genes, helping to maintain phenotypic stability in the face of genetic perturbations.
9. How does epistasis affect the concept of genetic architecture?
Epistasis is a crucial component of genetic architecture, which describes how genes and their interactions contribute to phenotypic variation. By influencing the relationships between genes, epistasis adds complexity to genetic architecture, affecting trait heritability, gene mapping, and predictions of phenotypic outcomes.
10. What is the connection between epistasis and gene regulatory networks?
Epistasis often reflects the underlying structure of gene regulatory networks. Genes that show epistatic interactions are frequently part of the same regulatory pathway or network. Understanding epistatic relationships can provide insights into the organization and function of these networks.
11. How does epistasis relate to the concept of genetic background?
Epistasis is a key component of genetic background effects. The phenotypic outcome of a particular gene or mutation can depend on the presence or absence of other genes in the genome (the genetic background). This dependency is often due to epistatic interactions between the gene of interest and other genes in the background.
12. What is the relationship between epistasis and pleiotropy?
Epistasis and pleiotropy are both forms of gene interaction, but they differ in their effects. Epistasis involves interactions between different genes, while pleiotropy refers to a single gene affecting multiple traits. However, these concepts can overlap when epistatic interactions influence multiple traits or when pleiotropic genes are involved in epistatic relationships.
13. How does epistasis affect genetic mapping and association studies?
Epistasis can complicate genetic mapping and association studies by:
14. Can you explain recessive epistasis with an example?
In recessive epistasis, a recessive allele of one gene masks the expression of another gene. A classic example is coat color in Labrador retrievers. The "B" gene controls black/brown color, while the "E" gene allows color expression. If a dog is "ee" (recessive epistasis), it will be yellow regardless of its "B" gene alleles, as the "e" allele prevents pigment production.
15. Can epistasis affect continuous traits?
Yes, epistasis can affect continuous traits, also known as quantitative traits. In these cases, multiple genes interact to influence the trait, and epistatic interactions can contribute to the overall variation observed in the population. This is sometimes referred to as quantitative epistasis.
16. How does epistasis impact evolution?
Epistasis plays a crucial role in evolution by:
17. What are the main types of epistasis?
The main types of epistasis are:
18. How does dominant epistasis work?
In dominant epistasis, a dominant allele of one gene masks the expression of another gene, regardless of the other gene's alleles. For example, in mice, the dominant "C" allele allows color expression, while "cc" results in albinism. If a mouse has the dominant "I" allele for white fur, it will be white regardless of its "C" alleles, as "I" prevents pigment production.
19. What is the difference between complementary and duplicate gene action?
Complementary gene action occurs when two genes must work together to produce a phenotype. If either gene is absent or non-functional, the trait won't be expressed. Duplicate gene action, on the other hand, involves two genes that can independently produce the same phenotype. The presence of either gene is sufficient for trait expression.
20. How does inhibitory gene action differ from other types of epistasis?
Inhibitory gene action occurs when one gene inhibits or suppresses the expression of another gene. Unlike other forms of epistasis where genes may work together or mask each other's effects, inhibitory gene action actively prevents the expression of another gene's phenotype.
21. What is sign epistasis, and why is it important in evolution?
Sign epistasis occurs when the effect of a mutation (beneficial or deleterious) depends on the genetic background. It's important in evolution because it can create rugged fitness landscapes, potentially trapping populations on local fitness peaks and influencing the accessibility of evolutionary pathways.
22. What is the relationship between epistasis and gene dosage effects?
Epistasis can modulate gene dosage effects by altering how changes in gene copy number or expression level impact phenotypes. The effect of increased or decreased gene dosage may depend on the presence or activity of other interacting genes, leading to non-linear relationships between gene dose and phenotype.
23. How does epistasis impact the concept of genetic penetrance?
Epistasis can affect genetic penetrance by modifying the likelihood that individuals carrying a particular genotype will express the associated phenotype. Interactions with other genes can either increase or decrease penetrance, leading to variable expressivity of traits in populations.
24. How does epistasis affect the concept of hybrid vigor (heterosis)?
Epistasis contributes to hybrid vigor by creating non-additive genetic effects. The combination of alleles from different parental lines can lead to beneficial epistatic interactions, resulting in offspring that outperform their parents. Understanding epistasis is crucial for predicting and optimizing heterosis in breeding programs.
25. What is the relationship between epistasis and gene expression regulation?
Epistasis often reflects underlying regulatory relationships between genes. Epistatic interactions can arise from:
26. What is the difference between additive and non-additive epistasis?
Additive epistasis occurs when the combined effect of multiple genes is equal to the sum of their individual effects. Non-additive epistasis, which is more common, occurs when the interaction between genes produces an effect that is greater than or less than the sum of their individual effects.
27. What role does epistasis play in speciation?
Epistasis can contribute to speciation by:
28. How does epistasis impact the interpretation of genome-wide association studies (GWAS)?
Epistasis complicates GWAS interpretation by:
29. How does epistasis affect the concept of genetic load?
Epistasis can influence genetic load by:
30. What is the "omnigenic model," and how does it relate to epistasis?
The omnigenic model proposes that complex traits are influenced by nearly all genes in the genome, with a small set of "core" genes having large effects and many "peripheral" genes having small, cumulative effects. This model implies widespread epistatic interactions, as the effects of peripheral genes depend on the genetic background provided by core genes and other peripheral genes.
31. How does epistasis affect the concept of heritability?
Epistasis can impact heritability estimates by:
32. What is the difference between compositional and statistical epistasis?
Compositional epistasis refers to the functional interactions between genes at the molecular level, while statistical epistasis describes the deviation from additive effects of genes on phenotypes observed in populations. Compositional epistasis doesn't always lead to detectable statistical epistasis, and vice versa.
33. What is synthetic lethality, and how is it related to epistasis?
Synthetic lethality is a type of epistasis where the combination of two non-lethal mutations results in cell death. It's an extreme form of negative epistasis and is particularly important in cancer research for identifying potential therapeutic targets.
34. How does epistasis affect the concept of genetic canalization?
Epistasis contributes to genetic canalization by creating redundancy and buffering in genetic systems. This can lead to phenotypic stability despite genetic or environmental perturbations, as the effects of changes in one gene may be compensated for by interactions with other genes.
35. What is the connection between epistasis and phenotypic plasticity?
Epistasis can influence phenotypic plasticity by affecting how genotypes respond to environmental changes. Epistatic interactions may determine the range of phenotypes a given genotype can produce across different environments, potentially enhancing or constraining plasticity.
36. How does epistasis relate to the concept of genetic assimilation?
Epistasis can play a role in genetic assimilation by influencing how environmentally induced phenotypes become genetically fixed. Epistatic interactions may affect the genetic architecture underlying plastic responses, potentially facilitating or hindering the process of genetic assimilation.
37. What is the importance of epistasis in personalized medicine?
Epistasis is crucial in personalized medicine because:
38. How does epistasis impact the interpretation of knockout experiments?
Epistasis complicates the interpretation of knockout experiments by:
39. What is the connection between epistasis and gene duplication?
Gene duplication can create new opportunities for epistatic interactions. Duplicated genes may:
40. How does epistasis affect the concept of genetic drift?
Epistasis can influence genetic drift by:
41. What is the importance of epistasis in understanding complex diseases?
Epistasis is crucial for understanding complex diseases because:
42. How does epistasis relate to the concept of genetic redundancy?
Epistasis and genetic redundancy are closely related. Redundant genes often exhibit epistatic interactions, as the effect of losing one gene may be masked by the presence of its redundant partner. This relationship contributes to genetic robustness and can influence evolutionary processes by allowing the accumulation of mutations in redundant genes.
43. What is the role of epistasis in adaptive landscapes?
Epistasis shapes adaptive landscapes by:
44. How does epistasis affect the interpretation of quantitative trait loci (QTL) mapping?
Epistasis complicates QTL mapping by:
45. What is the connection between epistasis and pleiotropy in complex trait genetics?
Epistasis and pleiotropy often interact in complex trait genetics:
46. How does epistasis impact the concept of genetic architecture in plant breeding?
In plant breeding, epistasis affects genetic architecture by:
47. What is the role of epistasis in antibiotic resistance evolution?
Epistasis plays a crucial role in antibiotic resistance evolution by:
48. How does epistasis relate to the concept of cryptic genetic variation?
Epistasis can contribute to cryptic genetic variation by:
49. What is the importance of epistasis in understanding gene network evolution?
Epistasis is crucial for understanding gene network evolution because:
50. How does epistasis impact the interpretation of genome editing experiments?
Epistasis affects genome editing experiments by:
51. What is the relationship between epistasis and gene essentiality?
Epistasis can influence gene essentiality by:

Articles

Back to top