Relationship between epistasis and pleiotropy vs

Pleiotropy - Wikipedia

relationship between epistasis and pleiotropy vs

The model demonstrates that, for single-locus or epistatic pleiotropy to contribute to trait For epistatic effects on single traits, the relationship between the. We investigate the impact of epistasis and pleiotropy on adaptive evolution by studying the evolution of a (or arXivv3 [] for. Evolutionary adaptation is often likened to climbing a hill or peak. While this process is simple for fitness landscapes where mutations are independent, the.

relationship between epistasis and pleiotropy vs

Introduction As a population adapts to its environment, it accumulates mutations that increase the chance for the long-term success of the lineage or lineages it represents. Instead, deleterious mutations play an important role as stepping stones of adaptive evolution that allow a population to traverse fitness valleys.

In this respect, the impact of the sign i.

Quantitative Biology > Populations and Evolution

If we move from the single gene level to networks of genes, the situation becomes even more complex. To understand the evolution of such systems, we have to take into account the interaction between loci, and furthermore abandon the limit where mutations on different loci fix sequentially. Here, we quantify the impact of epistasis on evolutionary adaptation and the dependence of this impact on mutation rateby studying a computational model of a fitness landscape of N loci, whose ruggedness can be tuned: Models that study interacting gene networks e.

Instead, we are interested in the evolution of the allelic states of the network as a population evolves from low fitness to high fitness: As opposed to most work studying adaptation in the NK fitness landscape, we do not focus on population observables such as mean fitness, but rather study the line of descent LOD in each population in order to characterize the sequence and distribution of mutations that have come to represent the evolutionary path e.

We consider this approach more valuable because it more closely mimics studies in nature where usually the information we gain about evolutionary history is from surviving lineages.

  • Impact of epistasis and pleiotropy on evolutionary adaptation

The mutations that are found on the LOD are not independent of each other in general, and paint a complex picture of adaptation that involves deleterious and beneficial mutations that are conditional in the presence of each other: Because independent random numbers are drawn for the four different combinations, the fitness contribution of a locus to the overall fitness of the organism can change drastically depending on the allele of the interacting locus.

Multiple alleles for the ABO blood groups.

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Click image to enlarge The Punnett square can be used to predict the genotype frequencies resulting from multiple allele crosses. However, one cannot be certain of an individual's genotype if they are blood type A or B because there are two possible genotypes for each of these blood types.

Therefore, many cross problems that examine blood types are similar to test crosses; that is, the parental genotype is uncertain. A few examples will aid in your understanding. At the following Web sites, find the correct answer to the multiple-choice monohybrid cross questions.

relationship between epistasis and pleiotropy vs

Work out each problem. After viewing the correct answer, close the Monohybrid Cross Problem Set window to return to this page. Pleiotropy So far we have only considered genes that affect a single phenotypic character. This actually is a rare situation because it is more common that one gene can have multiple effects pleiotropy. For example, albino individuals lack pigment in their skin and hair, and also have crossed eyes at a higher frequency than pigmented individuals see photograph.

This occurs because the gene that causes albinism can also cause defects in the nerve connections between the eyes and the brain.

relationship between epistasis and pleiotropy vs

These two traits are not always linked, again showing the complexity of genetic interactions in determining phenotypes. Pleiotropy in individuals with albinism. Click image to enlarge Mendel also recognized this effect. He observed that pea plants with red flowers had red coloration where the leaf joined the stem, but that their seed coats were gray in color. Plants with white flowers had no coloration at the leaf-stem juncture and displayed white seed coats.


These combinations were always found together, leading Mendel to conclude that they were likely controlled by the same hereditary unit i. Epistasis Sometimes a gene at one location on a chromosome can affect the expression of a gene at a second location epistasis. A good example of epistasis is the genetic interactions that produce coat color in horses and other mammals.

In horses, brown coat color B is dominant over tan b. Gene expression is dependent on a second gene that controls the deposition of pigment in hair. The dominant gene C codes for the presence of pigment in hair, whereas the recessive gene c codes for the absence of pigment.


If a horse is homozygous recessive for the second gene ccit will have a white coat regardless of the genetically programmed coat color B gene because pigment is not deposited in the hair. The figure above demonstrates this scenario. Several of the white horses have genotypes for brown or tan coat color in the first gene, but are completely white because they are homozygous recessive for the gene controlling pigment deposition.

An example of epistasis. Click image to enlarge At the following Web sites, find the correct answer to the multiple-choice dihybrid cross questions. Work out each problem yourself using paper and pencil. After viewing the correct answer, close the Dihybrid Cross Problem Set window to return to this page. What is the genotype of the agouti parent?

Polygenic Inheritance The characters that Mendel studied are sometimes referred to as discrete characters because they can only be classified on an "either-or" basis e. Many characters cannot be classified in this manner because they vary in a population across a continuum gradient.

For example, the figure above illustrates that skin color in humans is a quantitative character. Quantitative characters usually indicate that the character is controlled by more than one gene polygenic inheritance.

In the example shown, a simplification of the genetics of skin color in humans shows that three genes interact to determine the level of pigment in an individual's skin. The dominant alleles A, B, and C each contribute one "unit" of pigment to the individual, and their effects are cumulative such that individuals with more of these alleles will be darker than those with fewer alleles.

The recessive alleles a, b, and c do not contribute any units of pigment. Therefore, skin color is related to the number of dominant alleles present in each individual's genotype. A cross of two completely heterozygous parents produces seven phenotypes in their offspring, ranging from very light to very dark skin. The distribution of skin color in the offspring would resemble a bell-shaped curve because there would be more individuals with intermediate skin colors than either extreme.

As the number of genes involved increases, the differences between the various genotypes become more subtle and the distribution fits the curve more closely. Other examples of polygenic inheritance in humans include height, hair color, and eye color. This helps to explain the slight variations in these characters that we see in different individuals.

A simplified model for polygenic inheritance of skin color. Click image to enlarge Summary This tutorial explored the more complex expression patterns of alleles. In all cases, these genes are still transmitted from generation to generation on chromosomes that segregate independently during meiosis. The differences lie in how the gene product behaves within the cell, and the number of such products that contribute to a given character trait.

Some alleles can show incomplete dominance. In the snapdragon flower color and snake body color examples, we saw that three phenotypes could be traced to two alleles. In other words, two separate homozygous phenotypes resulted as is usually seen with characters transmitted in a Mendelian manner and a third phenotype associated with a heterozygous genotype clearly different than the case observed with Mendelian traits, where the heterozygous phenotype is the same as the homozygous dominant genotype.

relationship between epistasis and pleiotropy vs

How can two alleles yield three phenotypes? When a plant receives two alleles a double dose of the red allele, the flower is very red. These alleles encode for enzymes involved in the production of red pigment. The alternative alleles produce an enzyme that is nonfunctional and cannot participate in pigment synthesis.

relationship between epistasis and pleiotropy vs

When a plant receives two copies of this nonfunctional alternative allele, pigment is not produced and the flower is white. When the plant receives one copy a single dose of the functional red allele, it can produce some pigment, but not as much as with two fully functional alleles, and so, the color is less red pink.

In the example above, note that the reason for the phenotypic pattern was that one allele was nonfunctional and the other functional allele resulted in a phenotype that was dependent on there being one or two copies of the functional alleles. There is another situation, however, termed codominance, in which both alleles are functional and expressed.

The M and N blood groups are examples of codominance. These alleles encode for proteins that are located on the surface of red blood cells. They are similar but nonidentical; that is, they differ in four amino acids.