Epistasis Definition

“Interaction between genes which determine a phenotype”

Genetics entails a phenomena, epistasis wherein the impact of a gene mutation depends on the absence or presence of mutations in one or more other genes referred to as modifier genes. Consequently, the epistatic mutations have various effects on their own than when it occurs together. Epistasis particularly is used to indicate that the effect of gene variant gets masked by other genes.

Interactions between genes or epistasis have been identified to be significant fundamentally to comprehend the role as well as the structure of genetic pathways and the evolutionary dynamics of the complicated genetic systems. There is a revived approval for both the significance of studying gene interactions and to address questions in a co-ordinated quantitative mode with the arrival of high turnout functional genomics along with the unfolding of system approaches in the field of biology. This is joined by the newly discovered cognition to follow the genetic basis of evolution to the particular molecular alterations.

Consequently, Epistasis is an interaction discussed at the phenotypic level of the organization. Genes at a particular epistatic interaction can exhibit independent assortment at the genotypic level, in which case the phenotypic ratios can seemingly deviate from those that are expected with independent assortment.


Typically, epistasis assists in describing various phenomena such as functional interaction between genes, statistical deviation from additive gene action, and genetic outcome of mutations that act in the same genetic pathway.

One of the conventional applications of the analysis as a result of epistasis is ordering genes in a developmental and metabolic pathway. With the advent of high-throughput genetic screens, such approaches, off late have turned out to become more systematic, particularly in yeasts. Such surveys indicate that interactions of genes are ubiquitous and its usage helps comprehend the structure of complex genetic networks.

A drawback of this all-encompassing investigation of the gene interactions is the total number of interactions which should be tested. These are known to grow at nearly the square of the number of genes. Furthermore, epistasis can be a roadblock to deduce the genetic basis of complex characteristics in a natural population. The consequences of several QLTs can be concealed by the interrelationships with other loci, thus making mapping challenging.

Epistasis in human genetic diseases is common though there are some examples wherein the serviceable footing of a specific interaction has been illustrated. Epistasis emerges as a natural repercussion of the process of evolution as all resultant changes due to evolution are based on genetic alterations previously taken place.

Types of Epistasis

Epistasis gene interactions are of 6 types

  • Dominant
  • Recessive
  • Polymeric gene interaction
  • Dominant inhibitory
  • Duplicate recessive
  • Duplicate dominant

It is a simple or dominant epistasis whenever a dominant allele conceals the expressing of both recessive and dominant alleles at other loci.

It is a recessive epistasis when the recessive allele conceals the expressing.

It is suppression epistasis or dominant inhibitory when genes conceal other genes by suppression. It is a result of genes acting as suppressors or a component inhibiting the expressing of other alleles.

Duplicate epistasis is based on two loci. It is duplicate recessive epistasis whenever there is a recessive allele concealing the expressing of dominant alleles at two loci. This is also referred to as a complementary gene action as both the genes are necessary for the accurate phenotype to be available. Epistasis is said to be duplicate gene action or dominant epistasis whenever there is a dominant allele concealing the expression of recessive alleles at two loci.

The union of both dominant alleles strengthening the phenotype or creating a median variation is the polymeric gene interaction. When on their own, each of these dominant alleles generates a physical characteristic differing from the united dominant alleles. Consequently, 3 phenotypes are created for 2 dominant alleles only.

Epistasis – Example

Malvidin, a chemical is produced by Primula, a plant. Production of Malvidin is determined by the K gene where the suppression of its production is regulated by the D gene. Both of these genes are dominant characteristics. There is no expression of a dominant D allele even in the presence of dominant K allele. This interplay of the alleles can be classified then as the dominant inhibitory type of epistasis because the dominant D allele impedes the K allele.

In summer squash, the color white is dominant on green and yellow. This is a case of dominant epistasis.

This was a brief on Epistasis. Explore more topics on NEET, at BYJU’S.

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