1. Genetically influenced phenotypic variation is essential for evolution
Natural selection is the most important concept in biology because it explains how living things become adapted to their environments. For natural selection to work, a population has to have genetically influenced phenotypic variation.
Here are four examples of natural selection that you’ve previously seen in this course.
1. Rock pocket mice (Chaetodipus intermedius) evolved dark coloration to survive on dark lava flows.
Dark colored rock pocket mice have a mutation in a gene called MC1R (the Melanocortin 1 Receptor gene), which codes for a membrane receptor. Mutations in the gene lead to more expression of dark colored melanin (a pigment). More dark-colored melanin leads to the dark fur color on the back of the mice that enhances survival on dark environments (like lava flows: you can read an article about this here).
2. Peppered moths (Biston betularia) evolved dark coloration to blend in with darkened tree trunks in polluted forests, and then evolved light coloration as pollution abated and trees were once again covered with whitish lichens.
A mutation in the cortex gene results in the darker-winged variant.
3. Three-spined sticklebacks lost their pelvic spines as they adapted to life in freshwater lakes.
The form on the left is the marine form, with a pelvic spine. The form on the right is the freshwater form, without a pelvic spine. In marine sticklebacks, the pelvic spine provides protection against predatory fish.
In the freshwater form, these predatory fish are absent (making the pelvic spine superfluous). In addition, the pelvic spine provides a way for predatory dragonfly larvae to grab onto sticklebacks, making the pelvic spine a liability.
The difference is caused by a mutation in the Pitx1 pelvic enhancer.
4. The sickle cell allele (HbS) allows heterozygotes (HbA/HbS) to to survive malaria infections with reduced severity, providing a selective advantage in regions where malaria is common.
The sickle cell allele (HbS) results from a point mutation in the β-globin gene of hemoglobin, the blood-carrying protein in red blood cells. The mutation causes a substitution of valine (a nonpolar amino acid) for glutamic acid. The valine creates a hydrophobic region on the outside of hemoglobin, causing hemoglobin molecules to chain together, causing red blood cells to sickle.
In heterozygotes, only a small amount of sickling occurs, but the presence of the mutated protein creates a less hospitable environment to the plasmodium parasite that causes malaria.
2. Natural Selection Depends on Preexisting Variation
In each case, natural selection was only possible because of preexisting, genetically influenced phenotypic variation in the population. Note that this doesn’t imply any foresight, intention, or planning on the part of the evolving population. Rather, it’s part of the very nature of life. DNA is always changing because of mutation and, in sexual reproducing species, genetic recombination. That creates phenotypic variation. Natural selection then weeds out variants with unsuccessful phenotypes, while those variants with phenotypes that allow them to survive and reproduce pass their genes onto the next generation. Over time, allele frequencies in the population shift. That shift in allele frequencies is, from a population genetics perspective, the definition of evolution.
3. Selection based on variation is also at work with polygenic traits
In the examples above, the successful phenotype is linked to single underlying gene.
Natural selection also works with polygenic traits (traits caused by many genes). Polygenic traits, which we learned about in unit 5, are much more common than traits caused by single genes. In humans, examples of polygenic traits include height, skin color, eye color, hair color, weight, intelligence, athletic ability, blood pressure, cholesterol levels, body shape, facial features (just to name a few). And because they’re caused by many genes, these traits have continuous variation, defined by a bell-shaped curve, as you can see below.

When natural selection works upon a trait like height, the entire curve of variation is pushed in one direction, resulting in directional selection.

In polygenic traits, directional selection works just as it does with traits controlled by single genes.
- There’s preexisting genetically influenced phenotypic variation that nature can select from
- There’s selection and differential survival of individuals with better adapted phenotypes.
- There’s renewal and enhancement of variation through mutation and recombination so that selection can continue in subsequent generations.
- There’s continuous selective pressure in the same direction, generation after generation.
Think of any complex, multi-faceted adaptation. Directional selection is how it came to be.
4. Alleles that are beneficial in one environmental condition may be harmful in another because of differentselectivepressures
The survival value of an allele depends on the environmental context. Let’s look again at the examples above.
- Rock Pocket Mice: A mutated MC1R allele that causes dark fur coloration is adaptive for a rock pocket mouse living on a dark lava flow. But the same allele would make a rock pocket mouse an easy-to-find snack for a hawk that’s hunting over a light colored, sandy environment.
- Peppered Moth: The dark-winged allele is beneficial in a polluted environment when the tree trunks have lost their lichens and are covered with black soot. But that same dark-winged allele would make a peppered moth easy pickings for a song bird in an unpolluted environment, where the tree trunks are light in color. In that environment, the light-winged allele is the one that codes for effective camouflage.
- Three-spined sticklebacks: The mutated Pitx1 pelvic enhancer gene promotes survival in freshwater environments. But the same mutation would be disastrous in a marine environment (because it would leave a stickleback without a pelvic spine without any defense against large-mouthed marine predators)
- The HbS allele that causes malaria: It’s useful in malaria-prone areas because of heterozygote advantage. In areas without malaria, it’s purely negative.
5. Natural Selection and Genetic Variation Flashcards
[qdeck]
[h]Flashcards: Natural Selection and Genetic Variation
[i]
[q]What is required for natural selection to work?
[a]Genetically influenced phenotypic variation within a population.
[q]What causes phenotypic variation in a population?
[a]Random mutation and genetic recombination.
[q]What does it mean to say that “natural selection depends on preexisting variation”
[a]For natural selection to work, there must be preexisting variation. This means that evolution acts without planning or foresight. Rather, random changes in DNA through mutation and recombination produce variation among the individuals in a population. Then, natural selection weeds out variants with unsuccessful phenotypes, while individuals with successful phenotypes that allow them to survive and reproduce get to pass their beneficial alleles on to the next generation.
[q]Explain 1) the adaptation shown below, 2) the genetic basis of the adaptation, and 3) how the adaptation is based on a specific environmental context.
[a]1) The adaptation is for camouflage. 2) It’s caused by a mutation in the MC1R gene that results in more expression of dark colored fur. 3) It’s adaptive in environments with dark colored backgrounds (but would be maladaptive in a light colored background).
[q]Explain 1) the adaptation shown below, 2) the genetic basis of the adaptation, and 3) how the adaptation is based on a specific environmental context.
[a]1) The adaptation, found in three-spined sticklebacks, is for reduction in the pelvic spine. 2) It’s caused by a mutation in the enhancer sequence for the PitX1 gene. The mutation prevents formation of a pelvic spine. The adaptation is beneficial in a freshwater environment, where large-mouthed predatory fish are absent, and where predatory dragonfly larvae are present. The same mutation would be harmful in a marine environment, where it would make a fish that lacked a pelvic spine vulnerable to marine predators.
[q]Explain 1) how the HbS allele can be adaptive, 2) the genetic basis of the adaptation, and 3) how the adaptation is based on a specific environmental context.
[a]The HbS allele causes sickle cell anemia in people who are homozygous recessive. The allele codes for a substitution of valine for glutamic acid in hemoglobin, the oxygen-carrying protein found in red blood cells. In heterozygotes, the allele creates a hostile environment for the parasite that causes malaria, resulting in heterozygote advantage in malaria-infested areas. In areas without malaria, the HbS allele is purely negative (and confers no survival advantage).
[q]What is the population genetics definition of evolution?
[a]A change in allele frequencies in a population over time.
[q]What type of traits are controlled by multiple genes?
[a]Polygenic traits.
[q]Give three examples of polygenic traits in humans.
[a]Height, skin color, intelligence (also acceptable: weight, eye color, blood pressure, etc.)
[q]What kind of variation do polygenic traits show?
[a]Continuous variation, often with a bell-shaped distribution.
[q]What type of selection shifts the average phenotype in one direction?
[a]Directional selection.
[q]Explain how directional selection works.
[a]Directional selection works like this:
- There’s preexisting genetically influenced phenotypic variation that nature can select from
- There’s selection and differential survival of individuals with better adapted phenotypes.
- There’s renewal and enhancement of variation through mutation and recombination so that selection can continue in subsequent generations.
- There’s continuous selective pressure in the same direction, generation after generation.
[/qdeck]
6. Variation on the molecular level also influences fitness
In the context of evolution, fitness is measured by the an organism’s probability of surviving and reproducing.
The variations discussed above mostly focused on the observable phenotype: fur color, wing color, presence or absence of pelvic spines, height, etc. But molecular variation can also be crucial for an organism’s fitness and a population’s evolutionary success. Here are a few examples:
6a. Phospholipid variation and cold weather adaptation
- Cell membranes are made of phospholipids with fatty acid tails — these can be saturated or unsaturated.
- In cold-weather mammals:
- Cells in the body core have more saturated fatty acids — these make the membranes more rigid.
- Cells in the legs and ears have more unsaturated fatty acids — these keep membranes fluid in cold temperatures.
- This variation helps maintain maintain the correct level of diffusion. healthy circulation and oxygen delivery in freezing environments.
6b. Hemoglobin Changes Before and After Birth
- Hemoglobin is the protein that carries oxygen in red blood cells.
- Before birth, human babies use a special type of hemoglobin that grabs oxygen more tightly — helping draw oxygen from the mother’s blood in the placenta.
Fetal hemoglobin (right) binds oxygen more tightly than adult hemoglobin. This creates a diffusion gradient that moves oxygen from the mother’s uterine blood into the fetus’s circulatory system. - After birth, this fetal hemoglobin is replaced with adult hemoglobin, which works better in the lungs.
- This switch is a great example of developmental variation that supports survival at different life stages.
6c. Different Types of Chlorophyll in Plants
- Plants use chlorophyll to absorb light for photosynthesis.
- There are two main types:
- Chlorophyll a: Absorbs red light — great for direct sunlight.
- Chlorophyll b: Absorbs blue light — helpful in shade or indirect light.
The two chlorophylls differ only slightly in molecular structure (note the different functional groups). But that changes their absorption spectra
- Some plants are adapted to shady environments and have more chlorophyll b. Others thrive in bright light and rely more on chlorophyll a.
- Many plants have both types, helping them use a wider range of light throughout the day or year.
7. Species and populations with little genetic diversity are at risk of decline or extinction
The extinction vortex is a positive feedback loop that accelerates the decline of small, isolated populations towards extinction. Note that in this context, there’s nothing positive about a positive feedback loop. What we’re talking about is an extinction-causing vicious cycle that’s rooted in a population’s lack of phenotypic and genetic variation. Here’s how it works.
- For a variety of reasons (environmental changes, climate shifts, arrival of new competitor or predator, etc.), a population’s birth rate falls below its death rate, and its population starts to decline.
- This decline in numbers leads to genetic drift and loss of genetic diversity.
- Reduced genetic diversity results in lower fitness and adaptability.
- Further population decline ensues, perpetuating the cycle.
Resilient populations — populations that can bounce back from difficult conditions — are populations that have the phenotypic and genetic variation that allows some individuals to thrive (or survive) while other individuals are struggling.
8. Variation and Fitness: Checking Understanding
[qwiz]
[h]Natural Selection, Fitness, and Variation
[i]
[q multiple_choice=”true”]What is required for natural selection to operate in a population?
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[q]Natural selection requires [hangman]-existing phenotypic [hangman] in the population. In other words, the environmental challenge doesn’t [hangman] the adaptation. Rather, phenotypic variation — generated by underlying random mutation and genetic [hangman] — comes first.
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[q]Natural selection weeds out variants with unsuccessful [hangman], while those variants with phenotypes that allow them to [hangman] and reproduce get to pass their genes onto the next [hangman].
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[q multiple_choice=”true”]Which of the following is an example of a trait caused by a single gene?
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[q]The process by which rock pocket mice evolved dark fur to survive on lava flows is an example of [hangman] [hangman] acting on phenotypic [hangman].
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[q]The enhancer sequences shown below don’t code for a protein. Rather, they [hangman] the expression of other genes in various regions of the body.
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[q multiple_choice=”true”]Polygenic traits typically show what kind of distribution?
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[q multiple_choice=”true”]Which of the following is a polygenic trait?
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[q]When selective pressure favors one extreme of a trait distribution, this is called [hangman] selection.
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[q]The high frequency of the HbS allele in certain populations that live in malaria prone areas is an example of [hangman] advantage
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[q]The advantage of mammals having two types of hemoglobin is that [hangman] hemoglobin binds [hangman] more tightly than adult hemoglobin. This causes diffusion of this gas from the mother to the fetus, ensuring that that fetus’s blood will be highly oxygenated. After birth, the baby stops producing fetal hemoglobin and starts producing [hangman] hemoglobin, which does a better job absorbing oxygen in the lungs.
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[q]Based on the absorption spectrum below, you can tell that chlorophyll-a absorbs [hangman] light more effectively, while chlorophyll-b is more effective at absorbing [hangman] light. Having two types of chlorophyll allows plants to make use of more wavelengths of [hangman] energy, enabling them to survive in a wider variety of [hangman]
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[q]Small, isolated populations experience genetic [hangman]. The resulting loss of genetic diversity and reduced fitness increases [hangman] and decreases the rate of [hangman]. This makes the population even [hangman]
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[q]The diagram below shows an [hangman] vortex. As a system, this is a [hangman] feedback loop. However, a better description is to call it a [hangman] cycle.
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[/qwiz]
What’s next?
This tutorial ends Topics 7.10 – 7.11, Speciation and Variation. Return to the Unit 7 Main Menu to access the next topic (Topic 7.12, The Origin and Early Evolution of Life)