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Essay on Genetic Variation


Essay # 1. Meaning of Genetic Variation:

Evolution requires genetic variation. If there were no dark moths, the population could not have evolved from mostly light to mostly dark. In order for continuing evolution there must be mechanisms to increase or create genetic variation and mechanisms to decrease it. Mutation is a change in a gene. These changes are the source of new genetic variation. Natural selection operates on this variation.

Genetic variation has two components- allelic diversity and non- random associations of alleles. Alleles are different versions of the same gene. For example, humans can have A, B or O alleles that determine one aspect of their blood type. Most animals, including humans, are diploid—they contain two alleles for every gene at every locus, one inherited from their mother and one inherited from their father.

Locus is the location of a gene on a chromosome. Humans can be AA, AB, AO, BB, BO or OO at the blood group locus. If the two alleles at a locus are the same type (for instance two A alleles) the individual would be called homozygous. An individual with two different alleles at a locus (for example, an AB individual) is called heterozygous. At any locus there can be many different alleles in a population, more alleles than any single organism can possess. For example, no single human can have an A, B and an O allele.

Considerable variation is present in natural populations. At 45 percent of loci in plants there is more than one allele in the gene pool. Any given plant is likely to be heterozygous at about 15 percent of its loci. Levels of genetic variation in animals range from roughly 15% of loci having more than one allele (polymorphic) in birds, to over 50% of loci being polymorphic in insects.

Mammals and reptiles are polymorphic at about 20% of their loci – amphibians and fish are polymorphic at around 30% of their loci. In most populations, there are enough loci and enough different alleles that every individual, identical twins excepted, has a unique combination of alleles.

Linkage disequilibrium is a measure of association between alleles of two different genes. If two alleles were found together in organisms more often than would be expected, the alleles are in linkage disequilibrium. If there are two loci in an organism (A and B) and two alleles at each of these loci (A1, A2, B1 and B2), linkage disequilibrium (D) is calculated as D = f (A1B1) * f (A2B2) – f (A1B2) * f (A2B1) (where f(X) is the frequency of X in the population).

D varies between -1/4 and 1/4; the greater the deviation from zero, the greater the linkage. The sign is simply a consequence of how the alleles are numbered. Linkage disequilibrium can be the result of physical proximity of the genes. Or, it can be maintained by natural selection if some combinations of alleles work better as a team.

Natural selection maintains the linkage disequilibrium between color and pattern alleles in Papilio memnon. In this moth species, there is a gene that determines wing morphology. One allele at this locus leads to a moth that has a tail; the other allele codes for an untailed moth. There is another gene that determines if the wing is brightly or darkly colored.

There are thus four possible types of moths- brightly colored moths with and without tails, and dark moths with and without tails. All four can be produced when moths are brought into the lab and bred. However, only two of these types of moths are found in the wild- brightly colored moths with tails and darkly colored moths without tails.

The non-random association is maintained by natural selection. Bright, tailed moths mimic the pattern of an unpalatable species. The dark morph is cryptic. The other two combinations are neither mimetic nor cryptic and are quickly eaten by birds.

Assortative mating causes a non-random distribution of alleles at a single locus. If there are two alleles (A and a) at a locus with frequencies p and q, the frequency of the three possible genotypes (AA, Aa and aa) will be p2, 2pq and q2, respectively. For example, if the frequency of A is 0.9 and the frequency of a is 0.1, the frequencies of AA, Aa and aa individuals will be- 0.81, 0.18 and 0.01. This distribution is called the Hardy-Weinberg equilibrium.

Non-random mating results in a deviation from the Hardy- Weinberg distribution. Humans mate assortatively according to race; we are more likely to mate with someone of own race than another. In populations that mate this way, fewer heterozygotes are found than would be predicted under random mating.

A decrease in heterozygotes can be the result of mate choice, or simply the result of population subdivision. Most organisms have a limited dispersal capability, so their mate will be chosen from the local population.

In order for continuing evolution there must be mechanisms to increase or create genetic variation and mechanisms to decrease it. The mechanisms of evolution are mutation, natural selection, genetic drift, recombination and gene flow.

Essay # 2. Mechanism of Evolution for Genetic Variation:

Genetic Drift:

Allele frequencies can change due to chances alone. This is called genetic drift. Drift is a binomial sampling error of the gene pool. What this means is, the alleles that form the next generation’s gene pool are a sample of the alleles from the current generation. When sampled from a population, the frequency of alleles differs slightly due to chance alone.

Alleles can increase or decrease in frequency due to drift. The average expected change in allele frequency is zero, since increasing or decreasing in frequency is equally probable. A small percentage of alleles may continually change frequency in a single direction for several generations just as flipping a fair coin may, on occasion, result in a string of heads or tails. A very few new mutant alleles can drift to fixation in this manner.

In small populations, the variance in the rate of change of allele frequencies is greater than in large populations. However, the overall rate of genetic drift (measured in substitutions per generation) is independent of population size. If the mutation rate is constant, large and small populations lose alleles to drift at the same rate.

This is because large populations will have more alleles in the gene pool, but they will lose them more slowly. Smaller populations will have fewer alleles, but these will quickly cycle through. This assumes that mutation is constantly adding new alleles to the gene pool and selection is not operating on any of these alleles.

Sharp drops in population size can change allele frequencies substantially. When a population crashes, the alleles in the surviving sample may not be representative of the pre-crash gene pool. This change in the gene pool is called the founder effect, because small populations of organisms that invade a new territory (founders) are subject to this.

Many biologists feel the genetic changes brought about by founder effects may contribute to isolated populations developing reproductive isolation from their parent populations. In sufficiently small populations, genetic drift can counteract selection. Mildly deleterious alleles may drift to fixation.

Wright and Fisher disagreed on the importance of drift. Fisher thought populations were sufficiently large that drift could be neglected. Wright argued that populations were often divided into smaller subpopulations. Drift could cause allele frequency differences between subpopulations if gene flow was small enough.

If a subpopulation was small enough, the population could even drift through fitness valleys in the adaptive landscape. Then, the subpopulation could climb a larger fitness hill. Gene flow out of this subpopulation could contribute to the population as a whole adapting. This is Wright’s Shifting Balance theory of evolution.

Both natural selection and genetic drift decrease genetic variation. If they were the only mechanisms of evolution, populations would eventually become homogeneous and further evolution would be impossible. There are, however, mechanisms that replace variation depleted by selection and drift.

Recombination:

Each chromosome in our sperm or egg cells is a mixture of genes from our mother and our father. Recombination can be thought of as gene shuffling. Most organisms have linear chromosomes and their genes lie at specific location (loci) along them. Bacteria have circular chromosomes.

In most sexually reproducing organisms, there is two of each chromosome type in every cell. For instance in humans, every chromosome is paired, one inherited from the mother, the other inherited from the father. When an organism produces gametes, the gametes end up with only one of each chromosome per cell. Haploid gametes are produced from diploid cells by a process called meiosis.

In meiosis, homologous chromosomes line up. The DNA of the chromosome is broken on both chromosomes in several places and rejoined with the other strand. Later, the two homologous chromosomes are split into two separate cells that divide and become gametes. But, because of recombination, both of the chromosomes are a mix of alleles from the mother and father.

Recombination creates new combinations of alleles. Alleles that arose at different times and different places can be brought together. Recombination can occur not only between genes, but within genes as well. Recombination within a gene can form a new allele. Recombination is a mechanism of evolution because it adds new alleles and combinations of alleles to the gene pool.

Gene Flow:

New organisms may enter a population by migration from another population. If they mate within the population, they can bring new alleles to the local gene pool. This is called gene flow. In some closely related species, fertile hybrids can result from interspecific matings. These hybrids can vector genes from species to species.

Gene flow between more distantly related species occurs infrequently. This is called horizontal transfer. One interesting case of this involves genetic elements called P elements. Margaret Kidwell found that P elements were transferred from some species in the Drosophila willistoni group to Drosophila melanogaster.

These two species of fruit flies are distantly related and hybrids do not form. Their ranges do, however, overlap. The P elements were vectored into D. melanogaster via a parasitic mite that targets both these species. This mite punctures the exoskeleton of the flies and feeds on the “juices”.

Material, including DNA, from one fly can be transferred to another when the mite feeds. Since P elements actively move in the genome (they are themselves parasites of DNA), one incorporated itself into the genome of a melanogaster fly and subsequently spread through the species. Laboratory stocks of melanogaster caught prior to the 1940’s lack of P elements. All natural populations today harbor them.

Essay # 3. Evolution within a Lineage for Genetic Variation:

Evolution is a change in the gene pool of a population over time; it can occur due to several factors. Three mechanisms add new alleles to the gene pool- mutation, recombination and gene flow. Two mechanisms remove alleles, genetic drift and natural selection. Drift removes alleles randomly from the gene pool. Selection removes deleterious alleles from the gene pool. The amount of genetic variation found in a population is the balance between the actions of these mechanisms.

Natural selection can also increase the frequency of an allele. Selection that weeds out harmful alleles is called negative selection. Selection that increases the frequency of helpful alleles is called positive, or sometimes positive Darwinian, selection. A new allele can also drift to high frequency. But, since the change in frequency of an allele each generation is random, nobody speaks of positive or negative drift.

Except in rare cases of high gene flow, new alleles enter the gene pool as a single copy. Most new alleles added to the gene pool are lost almost immediately due to drift or selection; only a small percent ever reach a high frequency in the population. Even most moderately beneficial alleles are lost due to drift when they appear. But, a mutation can reappear numerous times.

The fate of any new allele depends a great deal on the organism it appears in. This allele will be linked to the other alleles near it for many generations. A mutant allele can increase in frequency simply because it is linked to a beneficial allele at a nearby locus. This can occur even if the mutant allele is deleterious, although it must not be so deleterious as to offset the benefit of the other allele.

Likewise a potentially beneficial new allele can be eliminated from the gene pool because it was linked to deleterious alleles when it first arose. An allele “riding on the coat tails” of a beneficial allele is called a hitchhiker. Eventually, recombination will bring the two loci to linkage equilibrium. But, the more closely linked two alleles are, the longer the hitchhiking will last.

The effects of selection and drift are coupled. Drift is intensified as selection pressures increase. This is because increased selection (i.e. a greater difference in reproductive success among organisms in a population) reduces the effective population size, the number of individuals contributing alleles to the next generation.

Adaptation is brought about by cumulative natural selection, the repeated sifting of mutations by natural selection. Small changes, favored by selection, can be the stepping-stone to further changes. The summation of large numbers of these changes is macroevolution.


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