Poster Mengenai Epistasi

Dalam genetika, epistasis memiliki dua pengertian yang agak berkaitan (Roth et al. 2009). Istilah ini diperkenalkan oleh William Bateson (1907) dalam bentuk adjektiva (kata sifat) epistatic bagi "karakter yang harus disingkirkan agar karakter yang hypostatic dapat muncul" (Bateson W. 1907). Kata "epistatic" dan "hypostatic" digunakan berpasangan bagi karakter/sifat yang diwariskan mengikuti Hukum Pewarisan Mendel tetapi menunjukkan penyimpangan (semu) dari ekspresi harapan karena ada interaksi di antara dua lokus yang bertanggung jawab atas karakter/sifat itu. Sebagai misal, kehadiran alel dominan pada lokus pertama akan mengubah penampilan yang diharapkan dari genotipe lokus kedua.

Pengertian Bateson yang bersifat genetika Mendel (kualitatif) tersebut dikembangkan oleh Ronald Fisher (1918) menjadi lebih umum pada sifat kuantitatif dan mencakup semua bentuk interaksi antarlokus. Dalam pengertian genetika kuantitatif, epistasis (Fisher pertama kali menggunakan istilah epistacy) adalah interaksi antara dua atau lebih lokus yang mengendalikan sifat (kuantitatif) tertentu yang sama. Epistasis dalam pengertian Fisher bersifat statistik karena didefinisikan sebagai penyimpangan dari nilai harapan. Beberapa contoh Epistasi :

The genes of an individual do not operate isolated from one another, but obviously are functioning in a common cellular environment. Thus, it is expected interactions between genes would occur. Bateson and Punnett performed a classical experiment that demonstrated genetic interactions. They analyzed the three comb types of chicken known to exist at that time:

Chicken Varieties	Phenotype
Wyandotte	Rose Comb
Brahmas	Pea Comb
Leghorns	Single Comb

Rose Pea
Single Walnut

Result: The F₁ differed from both parents and two new phenotypes not seen in the parents appeared in the F₂. How can this result be explained? The first clue is the F₂ ratio. We have seen this ratio before when the F₁ from a dihybrid cross is selfed (or intermated). This observation suggests that two genes may control the phenotype of the comb. The gene interactions and genotypes were determined by performing the appropriate testcrosses.
A series of experiments demonstrated that the genotypes controlling the various comb phenotypes are as follows.

Phenotypes	Genotypes	Frequency
Walnut	R_P_	9/16
Rose	R_pp	3/16
Pea	rrP_	3/16
Single	rrpp	1/16

It was later shown that the genotypes of the initial parents were:
Rose = RRpp
Pea = rrPP
Therefore, genotypically the cross was:

The development of any individual is obviously the expression of all the genes that are a part of its genetic makeup. Therefore, it is not an unexpected conclusion that more than one gene could be responsible for the expression of a single phenotype. We will now discuss this situation. First let's give a definition.
Epistasis - the interaction between two or more genes to control a single phenotype
The interactions of the two genes which control comb type was revealed because we could identify and recognize the 9:3:3:1. Other genetic interactions were identified because the results of crossing two dihybrids produced a modified Mendelian ratio. All of the results are modifications of the 9:3:3:1 ratio.
Example 1: 15:1 Ratio
Phenotypes: Kernel Color in Wheat


For this type of pathway a functional enzyme A or B can produce a product from a common precursor. The product gives color to the wheat kernel. Therefore, only one dominant allele at either of the two loci is required to generate the product.
Thus, if a pure line wheat plant with a colored kernel (genotype = AABB) is crossed to plant with white kernels (genotype = aabb) and the resulting F₁ plants are selfed, a modification of the dihybrid 9:3:3:1 ratio will be produced. The following table provides a biochemical explanation for the 15:1 ratio.

Genotype	Kernel Phenotype	Enzymatic Activities
9 A_B_	colored kernels	functional enzymes from both genes
3 A_bb	colored kernels	functional enzyme from the Agene pair
3 aaB_	colored kernels	functional enzyme from the Bgene pair
1 aabb	colorless kernels	non-functional enzymes produced at both genes

If we sum the three different genotypes that will produce a colored kernel we can see that we can achieve a 15:1 ratio. Because either of the genes can provide the wild type phenotype, this interaction is called duplicate gene action.
Example 2: 9:7 Ratio
Example: Flower color in sweet pea
If two genes are involved in a specific pathway and functional products from both are required for expression, then one recessive allelic pair at either allelic pair would result in the mutant phenotype. This is graphically shown in the following diagram.

If a pure line pea plant with colored flowers (genotype =CCPP) is crossed to pure line, homozygous recessive plant with white flowers, the F₁ plant will have colored flowers and a CcPp genotype. The normal ratio from selfing dihybrid is 9:3:3:1, but epistatic interactions of the C and P genes will give a modified 9:7 ratio. The following table describes the interactions for each genotype and how the ratio occurs.

Genotype	Flower Color	Enzyme Activities/TH>
9 C_P_	Flowers colored; anthocyanin produced	Functional enzymes from both genes
3 C_pp	Flowers white; no anthocyanin produced	p enzyme non-functional
3 ccP_	Flowers white; no anthocyanin produced	c enzyme non-functional
1 ccpp	Flowers white; no anthocyanin produced	c and p enzymes non-functional

Because both genes are required for the correct phenotype, this epistatic interaction is called complementary gene action.
Example 3: 12:3:1 Ratio
Phenotype: Fruit Color in Squash
With this interaction, color is recessive to no color at one allelic pair. This recessive allele must be expressed before the specific color allele at a second locus is expressed. At the first gene white colored squash is dominant to colored squash, and the gene symbols are W=white and w=colored. At the second gene yellow is dominant to green, and the symbols used are G=yellow, g=green. If the dihybrid is selfed, three phenotypes are produced in a 12:3:1 ratio. The following table explains how this ratio is obtained.
 Shapes of Squash Fruit

Genotype	Fruit Color	Gene Actions
9 W_G_	White	Dominant white allele negates effect of G allele
3 W_gg	White	Dominant white allele negates effect of G allele
3 wwG_	Yellow	Recessive color allele allows yellow allele expression
1 wwgg	Green	Recessive color allele allows green allele expression

Because the presence of the dominant W allele masks the effects of either the G or g allele, this type of interaction is called dominant epistasis.
Example 4: 13:3 ratio
Phenotype: Malvidin production in Primula
Certain genes have the ability to suppress the expression of a gene at a second locus. The production of the chemical malvidin in the plant Primula is an example. Both the synthesis of the chemical (controlled by the K gene) and the suppression of synthesis at the K gene (controlled by the Dgene) are dominant traits. The F₁ plant with the genotypeKkDd will not produce malvidin because of the presence of the dominant D allele. What will be the distribution of the F₂phenotypes after the F₁ was crossed?

Genotype	Phenotype and genetic explanation
9 K_D_	no malvidin because dominant D allele is present
3 K_dd	malvidin productions because dominant Kallele present
3 kkD_	no malvidin because recessive k and dominant D alleles present
1 kkdd	no malvidin because recessive k allele present

The ratio from the above table is 13 no malvidin production to 3 malvidin production. Because the action of the dominantD allele masks the genes at the K locus, this interaction is termed dominant suppression epistasis.
Suppressor - a genetic factor that prevents the expression of alleles at a second locus; this is an example of epistatic interaction
Remember that epistasis is the interaction between different genes. If one allele or allelic pair masks the expression of an allele at the second gene, that allele or allelic pair is epistatic to the second gene. Therefore, the following table summarizes the four epistatic interactions discussed above.

Example	Allelic Interactions	Type of Epistasis
Wheat kernel color	A epistatic toB, b B epistatic toA, a	Duplicate genes
Sweet pea flower color	cc epistatic toP, p pp epistatic toC, c	Complementary gene action
Squash Fruit Color	W epistatic toG, g	Dominant epistasis
Primula malvidin production	D epistatic toK, k	Dominant suppression