This is the examination of the mechanics behind variation, that is, how it is produced, and how physical traits are passed on between parents and offspring. In order to do this, we need to know something about cell biology, embryology, and molecular genetics.
The sum of an individual's observable characteristics constitutes a phenotype. From this it can be said that each species contains a range of phenotypic variation. Knowing this, we might ask, what causes phenotypic variation? This is an interesting question, given that we all start out looking more or less the same at conception.
It's only as embryonic development proceeds that we start to obtain
the characteristics that make us first vertebrates, then mammals, and
then
human beings. Our development from zygote to fully formed human
being is conditioned by two things: a set of genetic instructions
passed
down to us from our parents called a genotype; and the environment in
which
this development is carried out. The genetic instructions that
determine
the growth and development stages of the zygote are contained within
the
nucleus.
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The phenotype is a pattern of cells whose organization is
determined
by systems of information contained within our DNA (deoxyribonucleic
acid).
Types of DNA: Nuclear DNA is found in the nucleus of cells; it is inherited from both parents. Mitochondrial DNA is found outside of the nucleus of the cell, and is inherited along the female line only. |
Fertilization and Cell Division
When fertilization first occurs, the resulting cell immediately begins
to divide. As the divisions become more complex, cells become
increasingly
specialized and eventually take on different functions; for example:
brain,
gut, nerves, skin, etc.
The library of genetic information that controls phenotypic development are contained in long, threadlike structures called Chromosomes found in the nucleus of a cell. In the development of the zygote, the distribution of individual cells are not uniformly distributed. The effect is that they begin to take on more specialized functions. These functions are enabled by various proteins. Proteins are extremely important in the growth and development of all living organisms.
RNA Ribonucleic Acid
RNA is a long strand-like structure that combines together in specific
ways to build proteins. Varying combinations of their bases are
responsible
for the production of about 10,000 types of proteins in mammals. As
such,
RNA and the proteins they manufacture are the “tools” that allow the
cell
to both grow and subdivide.
Protein Functions
1. physiological - controlling such things as sight, smell, and
hearing.
2. structural - controlling such things as the expansion and contraction of muscles and giving springiness to connective tissue (i.e. collagen in bone).
3. transportation - moving materials such as oxygen (hemoglobin in blood) from the lungs to tissues.
4. chemical - proteins known as enzymes function to digest things like food. Enzymes also carry out the process of that control and coordinate cell division.
Thus, proteins can be thought of as the body’s molecular tools that carry out specific genetic instructions which are encoded in DNA.
There are two processes that allow DNA to code for the life of an organism: DNA Replication and DNA Transcription.
DNA Replication is a process in which DNA replicates itself. The two strands of DNA that make up the double helix “unzip” and separate. Free floating nucleotides (phosphates, sugars, bases) within the cell then attach themselves to the appropriate bases found on the separated strands, forming two “copies” of the original DNA strand.
DNA Transcription is the process in which DNA is used as a "blueprint" for the synthesis of new RNA molecules. In DNA transcription, two intertwined strands of DNA partially “unzip”, and a single strand of RNA is created.
Genes and Genotypes
What do we actually mean when we use the term “gene”? We've seen that
the DNA's function is that it carries the message that determines the
appearance
or phenotypic character of an organism.
We have also seen that DNA involves inheritance, because this message is transmitted from one generation to the next. As such, we should think of a gene as "bits" of information that are carried by DNA that are passed on from parents to offspring. More specifically, a gene is defined as a section of DNA that codes for the development of a specific protein, which in turn, makes cells carry out certain functions.
Genetic Basis for Variation
The term Gene Locus refers to location of a particular gene on a
chromosome.
At any one particular locus on the chromosome, every individual will
have
two sets of information. The information contained within each "set"
can
either be the same or it can be different. The information itself is
referred
to as an allele. If both alleles at a gene locus are the same, then we
say that the individual is homozygous. If both alleles at a
gene
locus are different, then we say that the individual is heterozygous.
This distinction is important because even though individuals may carry genetic information for one particular trait, they may not physically express it. For example, you may carry the allele for both black and blond hair at the gene locus controlling hair color, but only show black hair in your physical appearance. However, if your hair is a mixture of black and blond, then the effects of both alleles appear in the phenotype. This is referred to as Co-Dominance. In situations where the effects of only one allele appear in the phenotype, such as, black hair, then this allele is said to be Dominant while the allele controlling blond hair is said to be Recessive.
More Complex Patterns of Gene Interaction
So far all of the examples we have discussed have focused on a "one
gene, one trait" or monogenic relationships, but things can get
more complicated. In Polygenic situations, alleles associated
with
a single phenotypic trait are found at more than one locus on the
chromosome.
Conclusion
The processes involved in the change of a species over time are rooted
in the genetic variability of individuals and the resultant
recombination
of this material. To more fully understand the process of evolution, we
now need to expand our view from the individual and look at populations
of organisms, since this where we really see evolution at work.
Genes in Populations
Up until now, we have only looked at genetic variation at the level
of the individual, now we are going to look at it at the population
level.
To do this, we should define what exactly we mean by population.
A Mendelian population refers to a group of organisms that are
able
to form mating pairs with others of their own kind.
Previously we talked about the amount of genetic variation inherent within individuals. When you take a group of individuals and redefine them as a population, you increase the potential for genetic variability many times over! This total amount of genetic variability within a Mendelian population is called a gene pool.
This pooled genetic information is what causes the range of phenotypic variation that we see in a Mendelian Population, and this is one of the reasons why we as human beings display such a wide range of physical variation within our species. In some situations, species can become spatially isolated from one another by geographical constraints such as mountains, bodies of water, deserts, etc.. When this occurs, one or more sub groups may become isolated from the core group and become a sub-species.
Discontinuous and Continuous Variation
In discontinuous variation, phenotypic traits are either one thing,
or another, there is no in between. In continuous variation, phenotypic
traits are more blended so, rather than existing as discrete
categories,
they exist along a gradient. It is also important to note that the
genes
that control continuous variation are often found at more than one
locus
on a chromosome (which is defined as polygenic).
Gene Frequencies
Using Sickle Cell Anemia as an example, and from our Punnet Square,
we know that the non-anemic phenotype is produced by the genotypes AA
and
AS and the anemic phenotype is only produced by the genotype SS because
the S gene is recessive. Consequently, if we knew the frequencies in
which
these three genotypes appeared in a population, we could predict the
impact
that sickle cell anemia would have on that population.
Obviously, the ways in which the bearers of AA, AS, and SS genes mate with one another will influence the ways in which these alleles combine into new genotypes (and produce or not produce the phenotype for the disease). If we assume that everyone in a population has an equal chance of mating with any other individual within that population, then there should be predictable relationship in the frequency of the genes that can be calculated.
Hardy-Weinberg Theorem
This calculation of gene frequency can be stated mathematically using
the Hardy-Weinberg Theorem. It is a method that can be used to
calculate
the expected frequency of genes in a hypothetical population that is
considered
stable (or free from evolutionary forces). We can use this these
expected
gene frequencies (of this hypothetical population) as a bench-mark for
the comparison of real (or observed gene frequencies in a population)
to
determine whether a population is undergoing evolutionary change. The
differences
between the Expected and Observed frequencies will tell us whether
evolution
is at work, and the extent to which the population is evolving.
The Forces of Evolution
Working either alone or in combination, these produce different effects
on a population because they alter the frequencies of genes and
genotypes
that will have definite evolutionary consequences.
1. Mutation - The primary means through which entirely new information can be added to genetic systems is by way of mutation. Mutations can occur by way of changes in the chemical structure of the gene, or a change in the order of the chromosomes, or a change in the number of chromosomes.
2. Natural Selection - When populations become stable for long periods of time, they are said to be under the process of Stabilizing Selection. Directional Selection is where there is pressure continuously selecting one trait or pattern over another in one direction. Diversifying Selection is where you have extremes being selected for at the expense of the center of the entire range of variation.
3. Genetic Drift - Genetic Drift is an important mechanism for producing genetic variation across populations. There are several processes that fall under the heading of genetic drift, including Fission, the Founder Effect and Gamete Sampling. Fission is the splitting of a population into sub-populations that differ from one another as well as the original population. When this split is uneven, the effect is likely to be more dramatic. The Founder Effect is demonstrated from a new population that is founded by only a few individuals who carry only a small fraction of the total genetic variation that was present in the parent population. The result of the founder effect is both a loss in variation (also referred to as an evolutionary "bottleneck"). Gamete Sampling describes the genetic change that we see from one generation to the next. While the genetic difference between ourselves and are parents might be quite small, when they are considered across a population, the effects are multiplied.
4. Gene Flow - Gene Flow is essentially the opposite of Fission. it acts to transport alleles from one population to another. It occurs as a result of intermarriage within another population or populations. In this regard, Gene Flow is often associated with cultural practices.
Interaction of Evolutionary Forces
So far we've discussed the various evolutionary forces acting on their
own. However, the process of evolution actually involves the
interaction
of each of these four forces. The ways in which these forces act is
often
related to whether or not we are examining evolution within populations
or between populations.
In general terms, both genetic drift and gene flow tend to be directional, with Genetic Drift decreasing variation within a population, and increasing variation between populations. On the other hand, Gene Flow works in the opposite direction, increasing variation within a population, and decreasing it between populations. Selection on the other hand can work in either direction in either situation. And, as a result, selection can either work with or against other forces of evolutionary change.
The end result, however, is that each population will show different dynamics, and it is highly improbable, if not impossible to predict the overall effect of these evolutionary forces on a population. Thus, evolutionary change is not predictable.
Macroevolution: The Origin and Evolution of Species
Speciation - the appearance of the new form that requires three
conditions usually have to be satisfied: 1) reproductive isolation, 2)
the development of species specific characteristics, and 3) the control
of its own ecological niche. There are two main kinds of speciation
processes.
These are gradualism and punctuated equilibrium. Gradualism suggests
that populations naturally change or evolve over time. Punctuated
Equilibrium
suggests that populations tend to develop to a state of stasis or
equilibrium
for long periods of time, and then occasionally, populations are forced
into a new niche in an event that is referred to as punctuation. The
result
is that a new species is formed in an evolutionary burst in the new
niche.
Once established, the new species will then develop its own
evolutionary
stasis.
Adaptation - is the development of a position or “niche” within the environment. Each species assumes a special position within a particular environmental niche. The law of competitive exclusion states that if two co-existing species occupy environmental niches that are close enough to cause severe competition, it is inevitable that one of the two species will become extinct.
Stasis - can be defined as a period of evolutionary maturity when an adapted population in a stable environment. Once a species manages to colonize and adapt to a specific environmental niche, selection works to maintain stability.
Extinction - is defined of the disappearance of a species. Extinction is the inevitable fate that awaits all species. This might result in a number of ways, including: ecological change, species competition, and chance catastrophic events.
Species Interdependence in Evolution
Evolutionary processes are dependent on interactions between species.
Improvements in one species lead to a selective advantage for that
species.
This means that as fitness increases in one evolutionary system, it
will
tend to decrease fitness in another system. The only way that a species
involved in such a competition can maintain its fitness relative to the
others is by, in turn, improving its design.