Evolution and Population Genetics Flashcards

History of Evolution, Variation, Inheritance, Hardy-Weinberg, Malthus, Mendel, Population Genetics, Selection and Fitness.

1
Q

Evolution

A

a change in allele (gene) frequencies in a population over time.

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2
Q

4 Rules of Evolution

A
  • Variations exist in the population (via mutations) BEFORE any selection
  • Populations evolve, NOT individuals
  • Selection is NOT random
  • Changes (i.e. evolution) happens across generations, not within a generation
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3
Q

Genotype

A

all the genetic characteristics that determine the structure and functioning of a organism

Genotype governs reproductive output and affects competitive ability

Determining genotype may be complicated because:

  • Phenotype may be similar for different genotypes - Environmental effects may interfere with expression
  • Multiple genes may be implicated in a single phenotype
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4
Q

Phenotype or trait

A

the physical expression in an organism of the interaction between its genotype and its environment

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5
Q

Population

A

the group of organisms of a particular species that inhabit a particular area~ often arbitrary

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6
Q

antibiotic resistance

A

What happened? Evolution by natural selection

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7
Q

4 Agents of Evolution

A
  • Mutation
  • Genetic Drift = Random events
  • Gene Flow = Movement = Migration
  • Natural Selection = Adaptive evolution (including sexual selection)
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8
Q

What is NOT biological evolution?

A
  • Individual Development
  • Ecosystem Change
  • Cultural Evolution
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9
Q

Individual Development

A

Changes in form, physiology, behavior as an individual grows. These changes occur within individuals, not within populations or species (within generations, not across generations).

Example: metamorphosis

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10
Q

Ecosystem Change

A

Changes in species composition and abundances.These changes occur within ecosystems, not within populations or species.

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11
Q

Cultural evolution

A

Changes in ethics, politics, economics, technology, ideas; ideas transmitted through learning, not genetic change
- e.g., the “evolution” of evolutionary theory is not biological evolution

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12
Q

Example of Cultural Evolution

A

Japanese macaques

Researchers in 1950’s left sweet potatoes on beaches to lure macaques out of the forest. One young macaque discovered that she could wash sand off potatoes by rinsing them in water (new behavior). Her siblings and mother soon learned the behavior, and over time the entire macaque population gradually learned to wash potatoes by imitation. Macaques also learned how to “season” potatoes with saltwater, use water to sort wheat from sand, bathe in hot springs, and even make snowballs for fun! This is cultural evolution by learning, not biological evolution (in which change occurs because heritable traits are passed from parents to offspring).

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13
Q

Why is Evolution Important?

A

The central unifying theory of modern biology

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14
Q

Theodosius Dobzhansky

A

“Nothing in biology makes sense except in the light of evolution.”
–Theodosius Dobzhansky (1973)‏

Dobzhansky was a Evolutionary biologist, key figure of the Modern Synthesis with his “Genetics and the Origin of Species” (1937)‏

Quoting the French philosopher Pierre Teilhard de Chardin in his essay:
“Evolution is a general postulate to which all theories, all hypotheses, all systems must hence forward bow and which they must satisfy in order to be thinkable and true. Evolution is a light which illuminates all facts, a trajectory which all lines of thought must follow – this is what evolution is.”

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15
Q

Why study evolution?

A
  1. To understand the diversity of life…
  2. Conservation biology
  3. Fisheries management…
  4. Agriculture
  5. Medicine…
  6. Forensics and paternity analysis…
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16
Q

Conservation biology

A

a. Identify genetically distinct lineages that warrant conservation status.
Example: Achatinella mustelina - a single species of land snail endemic to the “big island” of Hawaii. Polymorphic for shell color along distinct geographical zones
ESU’s = Evolutionarily significant units

b. Population size, inbreeding depression, and genetic variation.

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17
Q

Inbreeding Depression

A

Relatives more likely to mate in small populations (= inbreeding). Relatives more likely to share copies of deleterious alleles.Produces offspring with 2 copies of deleterious allele.Inbred European viper populations have more birth defects and stillborn young (= inbreeding depression).

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18
Q

Low Genetic Variation

A

Genetic variation accumulates via mutation and recombination.

After population crashes, population size may recover quickly BUT…

Genetic variation remains low because mutation and recombination require more time.

Consequence: Populations with low genetic variation cannot evolve in response to changing environments.

Example: Cheetahs

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19
Q

Fisheries Management

A

Removing large fish selects for slower growth rate:

Fish populations evolve in response to fishing “selection”Fishing not only depletes populations, it can change their life history

Common practice is to harvest large fish
Experiment by Conover & Munch shows that harvesting fish causes an evolutionary response - alteration of their life history (attempt to maximize reproduction and survival)‏

Management recommendation: set both lower and upper limits on size in order to offset effects of selection

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20
Q

Agriculture and Evolution

A

Artificial selection has produced or enhanced most of our important agricultural crops and livestock.

Escape of genetically modified (GM) genes into wild populations
Genetically engineered crops developed as a means to facilitate weed and pest control…

Pest species evolve resistance to pesticides. The more we use pesticides, the more we select for resistant pests… (ex: canola and wild mustard)
Increase in pesticide-resistant species

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21
Q

Antibiotic Resistance

A

Bacteria have short generation times, lots of variation, and easily pickup “pieces” of DNA which
allow bacteria populations to evolve quickly.

Bacteria evolve resistance to antibiotics The more we use antibiotics, the more we select for resistant bacteria… People often think that the patient is becoming physiologically “desensitized” or developing a tolerance to the antibiotic drug.What is actually happening is that the antibiotics are killing vulnerable bacteria, which selects for any mutations that produce resistant bacteria.In other words, the patient is not changing, the bacteria are evolving.

Viruses also evolve rapidly (HIV-AIDS, influenza, hepatitis). Evolutionary trees help us understand where a virus came from, how it may have evolved, and how to treat various “strains.”
Strains are derived from single lineages

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22
Q

Huntington’s Chorea

A

disrupts nerve function, loss of control over body and mind, then death.

Symptoms do not occur until late in life (after reproduction).Disease “invisible” to selection. Although the disease is “invisible” to natural selection, genes for Huntington’s Chorea can now be detected by genetic analysis so that carriers can decide whether or not to have children.

Many severe genetic disorders are maintained in human populations.Shouldn’t natural selection remove genetic defects from the population?

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23
Q

Screening for diseases

A

Determine pathways and proteins impacted by gene

Look for correlations between diseases and presence of allele

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24
Q

Forensics and paternity analysis…

A

DNA fingerprinting can identify criminals and determine child paternity. “Non-coding” sections of the genome are “invisible” to natural selection, so they rapidly accumulate mutations that can distinguish between individuals.

Noncoding regions are not constrained by having to create specific proteins

Often consist of repeating sequences (created by errors in recombination)‏

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Essentialism
- The physical world and its life forms are fixed - All members of a class share unchanging properties that define the class - Attributed to Greek philosopher Aristotle (384-322 BC)
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Is color adaptive?
sometimes, depending on .....
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Adaptations MUST
• Improve fitness such that organisms WITH the trait have higher fitness than those without (All other things being equal) • Show correlation between the presence of the feature and the hypothesized selective pressure Does it enhance fitness? Does its presence correspond to a specific selective regime?
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Types of Adaptions
Feeding specializations Crypsis Mate attraction or competition
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Adaptation
specialized features that enhance fitness Adaptation (v) is the process by which features that enhance fitness are fixed in a population or species.
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Scala Naturae
- The “great chain of being” | - Life arranged hierarchically, culminating in divinity
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Carolus Linnaeus
(Swedish,1707-1778) - Carl von Linné, botanist, father of modern taxonomy - Systema Naturae (1735) – binomial nomenclature - Hierarchical taxonomy embodied Scala Naturae - Still used today, but reflects evolutionary relationships
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Old thought
Chair and chairness The physical world and its life forms are fixed – most controversial aspect of what Darwin proposed, was that species were NOT fixed in form (fixed as unchanging) All members of a class share unchanging properties that define the class Evolutionary thinkers existed but they lacked mechanisms to drive evolution
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George-Louis Leclerc | a.k.a. Buffon
(French,1707-1788) - Recognized that differences between related species living in different parts of the world reflect the different environments they inhabit - After migrating, organisms must somehow change to suit their new environment
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Jean-Baptiste Lamarck
(French, 1744-1829) - Philosophie Zoologique (1809) - First explicit scientific treatment of evolution Lamark proposed a mechanism, now shown to be incorrect: “internal force” (unknown) that causes parents to produce offspring slightly different from itself = accumulates changes over time, so species transform into another one. No extinction and no branching Transformism Inheritance of acquired characters - Individuals change during development - If changes are beneficial, parents transmit these acquired characters to their offspring - Famous discussion of giraffe’s neck
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Transformism
- Lineages persist forever, but change in form - Vague mechanism of “internal force” - No extinction or branching of lineages
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Georges Cuvier
(French, 1769-1832) - Paleontologist and comparative anatomist - Strong critic of Lamarck’s ideas - favored essentialism. Disputed Lamarck’s claim that forms change gradually over time Extinction - First to firmly establish extinction as fact - Rigorously reconstructed and classified fossils of mastodons and many other extinct organisms - attributed extinction to discrete catastrophic events
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Essentialism
- Disputed Lamarck’s claim that forms change gradually over time - Correlation of parts – organisms are so integrated in form and function that any changes would lead to death (“irreducible complexity”)
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The Geologists
James Hutton and Charles Lyell
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Charles Lyell
(British 1797-1875) - Uniformitarianism Historical changes result from uniform geological processes that still occur today (e.g., erosion, sedimentation, volcanism) - supplanted geological catastrophism Earth is very old and is always slowly changing.Past can inform the present, and vice versa. Lyell’s ideas profoundly influenced Darwin.Could species also change gradually along with these changes to their environment?
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Gradualism
James Hutton, (Scottish 1726-1797) - Gradualism Earth’s physical features gradually changed due to slow geological processes
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Uniformitarianism
Historical changes result from uniform geological processes that still occur today (e.g., erosion, sedimentation, volcanism)
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Changing views of earth’s history
Earth has had a complex history during which it has changed significantly in terms of its geology, topography, and inhabitants. The complexity of the Earth’s history can be explained in terms of the processes that are observed today —erosion, volcanism, etc Implications: Earth is very old and is always slowly changing. Past can inform the present, and vice versa.
43
setting the stage for Darwin
Essentialism is dominant - Most people, including most biologists, still thought that species do not change, in part because of influential essentialists like Cuvier or Linnaeus No satisfactory theory for biological diversity - Those who favored evolution (Lamarck) had incorrect views of the process (transformism) and the mechanism (inheritance of acquired characters) Extinction and Branching - Cuvier demonstrates that extinction happens - Even those who favored “evolution” did not think species could “split” Uniformitarianism is promoted - Geologists (Hutton and Lyell) argue that the Earth is old and constantly changing, not static and unchanging as thought by essentialists - Could species also be gradually changing with their environment?
44
Darwin
Did not invent the idea of evolution: he explained observations – came up with hypothesis Only later did hypo became a theory: Science is “organized skepticism”. Scientific Theories are constantly evaluated and updated: DATA Scientists would discard the Theory of Evolution if it were inconsistent with observations New discoveries (DATA) in biology continue to validate the Theory of Evolution SO FAR….no tested hypotheses or observations have negated the Theory of Evolution He proposed a mechanism for evolution: Natural selection Descent with modification is the outcome of evolution Came up with a hypothesis to explain evolution Catalog of evidence supporting decent with modification: (THE FACT OF EVOLUTION) Proposed natural selection : (MECHANISM OF EVOLUTION) The Beagle arrived at the Galapagos in 1835.
45
What led to his ideas about evolution?
Modern species, in at least some cases, resemble fossils Modern domesticated animals can be made to vary through intentional selection (artificial selection) The creatures in archipelagos vary from island to island Organisms may have very complex modifications that are necessary for their survival
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General observations about domesticated varieties
Unlike wild species, most varieties are freely inter-fertile Closely related varieties show more pronounced morphological differences than closely related wild species Common opinion among animal and plant breeders held that domesticated varieties arose from wild ancestors that had the same or similar characteristics as the domesticated variety In other words, each variety is descended from a unique ancestral species. Domesticated pigeons resembled only one wild species …
47
Artificial selection
new varieties arise by preferentially breeding individuals showing specific desirable traits. Traits arise as random “sports” that are then selectively bred. This process occurs over many generations, not in a single step “Improvement” of breeds is a continual process, resulting in the accumulation of fairly significant modifications in a relatively short period of time
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Galapagos
The Beagle arrived at the Galapagos in 1835. Darwin did not pay much attention to the finches after leaving the Galapagos. The following year (in 1837), the ornithologist John Gould made a descriptive account of the Galapagos collections, with the surprising opinion that the finches belonged to the SAME family. Close observation showed a wide range of variation in the size and shape of the beaks; These differences correlated with feeding preferences Each feeding type has a characteristic range of beak shapes. The 13 species of finches found on the Galapagos comprise the same number of feeding types as 9 FAMILIES of birds in South America. The Galapagos Islands have a harsh, arid climate, characterized by extended periods of severe drought. Annual cycles: hot, wet winters, cooler, dry summers. Multi-year cycles of extreme droughts (ENSO).
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Thomas Robert Malthus
(1766-1894) “An Essay on the Principle of Population, as It Affects the Future Improvement of Society, with Some Remarks on the Speculations of Mr. Godwin, M. Condorcet, and other Writers.” (1798, published anonymously) Usually referred to as the “Essay on Population” Premise: Left unchecked, human reproduction rates will rapidly outpace resource production, leading ultimately to “crime, disease, war, and vice.” (these being “natural” checks on population growth)
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Struggle for existence
Thomas Robert Malthus Reproductive potential AND reproductive effort GREATLY exceed requirements of reproductive replacement At the point where population size outstrips resource production, there are only two alternatives: find the means to expand the resource pool, or DIE. WHICH organisms survive has to do with interactions among organisms, and between organisms and their environment
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Finches and the “Malthusian dilemma”
In periods of drought, favorable resources (e.g. soft buds and seeds) are quickly depleted, leaving only less favorable food (hard, tough seeds, etc.) Only those birds with beaks capable of breaking these tough food items can survive. Death of “unfavorable” birds readjusts population size to the available resource pool. “Favorable” beak morphologies are passed on to offspring Very small morphological changes accumulate over a long period of time, leading to eventual (morphological) divergence of populations Widely differing morphologies gradually become reproductively incompatible "Seeing this gradation and diversity of structure in one small, intimately related group of birds, one might really fancy that from an original paucity of birds in this archipelago, one species had been taken and modified for different ends.” C. Darwin “The Voyage of the Beagle” (1845)
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The 4 postulates of natural selection
Variation: “Individuals within species are variable.” Inheritance: “Some of these variations are passed on to offspring.” Differential survival: “In every generation, more offspring are produced than can survive.” Extinction: “The survival and reproduction of individuals is not random. Individuals who survive and reproduce are those with the most favorable variation...”
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Darwin proposes more than natural selection
Common descent Gradualness of change over time Population differentiation Natural selection
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Common descent
All living things part of a community of descent. Organisms that are more closely related (have a more recent common ancestor) more similar than those that are more distantly related
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Gradualness of change over time
Differences among organisms have accumulated in small increments over a long time Outgrowth of his “uniformitarianist” perspective
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Population differentiation
Changes in species reflect changes in the proportion of individuals in a population bearing certain hereditary traits Changes in species take place at the level of individuals within population Talking here about variation among individuals Not a sudden origin of new species, or transformation of individuals VARIATION, NOT TRANSFORMATION
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Natural Selection
Population differentiation caused by differential reproductive success of individuals bearing particular traits Individuals that have more success are those better able to use resources in a particular habitat Same principles independently derived by Alfred Wallace during his work in Malaysia
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Alfred Russell Wallace
Professional “curiosity” collector Wrote a paper on natural selection in 1858 and sent it to Darwin. A year later Darwin published “Origin of the Species” We cannot talk about the history of Darwin without mentioning his nemesis, Into this historical setting there stepped a man whose role in the history of biology is enigmatic and often under appreciated, Alfred Russell Wallace. Wallace was a poor man of limited education who had to struggle just to get by. He earned his living by voyaging to places like South America and the Far East and collecting many Maybe he didn't want to arouse controversy. Maybe he was afraid to offend many peoples religious sensibilities. Anyway, what happened next is a fascinating story. Wallace, racked with a high fever in the tropics of Southeast Asia came up with the concept of natural selection. The idea that all organisms were engaged in a struggle for existence, and the survivors were those that went on to populate the world. Those that tended to survive and give rise to future generations were more fit or better adapted to the environment than those that didn't make it. Thus, the earth's flora and fauna changed through time. After Wallace recovered from his fever, he wrote a paper on this topic and sent it to Charles Darwin whom he didn't know but had heard of, asking him to present it at a prestigious English scientific meeting. The year was 1858. Darwin, upon receiving the manuscript, went into a state of shock. Here was someone who had come up with what he thought was his idea alone. He realized the scope of all those years of work and thought during which he had not published. Then, Darwin went feverishly went to work writing. He first took Wallace's paper and added to it a long section of his own. He added his name to the paper as a co-author and then he included a letter signed by 2 famous scientists of the day describing how he had been thinking of these ideas long before Wallace, and then the paper was read at the meeting and published, while Wallace was in Asia. A year letter, "On the Origin of Species by Means of Natural Selection or the Preservation of Favored Groups in the Struggle for Existence was Published". What is typically referred to as Darwin's Origin of the Species. Darwin received almost all of the credit for the idea of Natural Selection described in the book and he also received the credit for convincing people that evolution by common descent had occurred. The moral is, never ask somebody you don't know to read something to an audience when you can't make it there. The interesting things is that Wallace and Darwin became friends. Wallace was very magnanimous, that is, he didn't feel like he didn't need to get credit, or he was very stupid. Basically he appreciated the fact that Darwin gave him any credit at all. In those days, if you were poor in England you had little prospect for success, and Darwin's money and prestige made it easier for him to obtain most of the credit at the expense of Wallace, but also, I think, made the idea more palatable to the general public who could understand how a rich, well known gentleman scientist could come up with a great idea but would sadly probably not be able to understand how some poor unknown came up with a great idea. It's sad, but things still can work like this in science. In the end, it might be hypocritical to fault Darwin. How many of us, in the face of seeing 18 years of work down the tubes, when given the opportunity to obtain credit for an idea wouldn't have done what he did. In the end, it's best to view Darwin like any other great thinker. He was human and therefore flawed. Those who came before him had created an atmosphere in which ideas on evolution could be accepted. He was smart, and in the right place at the right time, which sure beats being in the wrong place at the wrong time.
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Darwin’s Reception
The general idea of evolution - Controversial among the general public - Scientists generally accepted evolution per se Darwin’s particular concept of evolution - Controversial among scientists, most of whom envisioned “progressive” change - Darwinian evolution based on lineage splitting, NOT inherently “progressive” towards higher forms Darwin’s Mechanism of Natural Selection - Generally rejected by scientists - One important flaw was the lack of a mechanism for heredity At this point, however, there are still two serious gaps in our knowledge: By what mechanism does inheritance occur? How is variability generated in populations?
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A big flaw in Darwin’s theory
Darwin lacked a theory of inheritance For lack of a better alternative, Darwin favored blending inheritance: New variant arises and is favored by natural selection. Offspring are intermediate. Trait spreads, but is further diluted. After many generations, trait is prevalent but blended away. There are naturally existing differences in a population (=variation) • More offspring are produced than can survive • Organisms with favorable variation will be preserved (i.e., will leave more offspring) • Accumulation of differences over time leads to adaptive radiation Darwin’s Main Interest…. • Establishing Natural Selection as the mechanism for Evolution (On the Origin of Species by Means of Natural Selection,or the Preservation of Favored Races in the Struggle for Existence)
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Without variation, there can be no evolution! | True or False?
TRUE!
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Variation
Variation is the raw material for evolution by natural selection Natural selection is a sorting process of differential survival & reproduction Without variation, there can be no evolution! Genetics and environment both contribute to variation.
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Four postulates of natural selection expanded on
Variation: “Individuals within species are variable.” Inheritance: “Some of these variations are passed on to offspring.” Differential survival: “In every generation, more offspring are produced than can survive.” Extinction: “The survival and reproduction of individuals is not random. Individuals who survive and reproduce are those with the most favorable variation...”
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Discrete Variation
Multiple forms within a species | (ex: polymorphism)
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Continuous variation
variation in phenotypic traits such as body weight or height in which a series of types are distributed on a continuum rather than grouped into discrete categories. Compare discontinuous variation. (Ex: Beak depth in Galapagos finches, height)
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pangenesis
Darwin favored pangenesis – all cell lines contribute to gametes
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germplasm
Evidence favored Weismann’s germplasm theory (germ vs. soma)
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Gregor (né Johann) Mendel (1822-1884)
Mechanism of transmission Born in Hyncice, Moravia (Austria); educated at the Institute of Philosophy, Olomuc (Czech Republic) Joined the Augustinian Order of St. Thomas in Brno (Czech Republic) at 21 years of age. Influenced by Darwin’s work on plant and animal domestication. Objective: “...to observe these variations in the case of each pair of differentiating characters, and to deduce the law according to which they appear in successive generations.”
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Mendel’s contributions
Provides theory of heredity - genes are preserved during development - genes are passed unaltered to offspring - organism can “carry” gene without expressing phenotype - phenotype may be intermediate, but genes do not “blend” Dominance Segregation Independent assortment
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Blending vs. Mendelian inheritance
Blending – Rare variants are blended out of the population Mendelian – Rare variants can persist and become established in the population
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Common Pea (Pisum sativum)
Readily available. Self-pollinating, true breeding Obtained 34 cultivars, pure breeds displaying seven selected characteristics including “...form of the ripe seeds” (wrinkled, round) “...form of the seed albumin” (green, yellow) “...position of the flowers” (terminal, axillary) “...length of the stem” (tall, dwarf)
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Methodology
22 uniform cultivars with contrasting characteristics were crossed over several generations. - Rather than hybridize species and varieties that differed in many traits, he limited his studies to the examination of single isolated traits. Kept accurate and detailed records of all crosses. - Each resultant plant was examined independently. Recognizing that chance influences mathematical power, Mendel designed his experiments to include many replicates.
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Mendel’s Law of Dominance (1865)
“Henceforth in this paper those characters which are transmitted entire, or almost unchanged in the hybridization, and therefore in themselves constitute the characters of the hybrid, are termed the dominant, and those which become latent [i.e. hidden] in the process recessive.”
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Mendel’s contributions: Dominance
“In this generation there reappear, together with the dominant characters, also the recessive ones with their peculiarities fully developed, and this occurs in the definitely expressed average proportion of three to one, so that among each four plants of this generation three display the dominant character and one the recessive.”
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Simple Dominance
When 2 unlike unit factors (alleles) are present in an individual, one factor is dominant and its trait is preferentially expressed
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Huntington’s Chorea
Disrupts nerve function, loss of control over body and mind, then death Why is it dominant? Mutant gene with extra CAG: abnormal protein with extra Glutamine This mutant protein is produced even if only one allele is present, and the toxic protein disrupts function
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Tay-Sachs Disease
Neurological impairment (often resulting in death) due to the accumulation of gangliosides (fatty acid derivatives) in neurons of the brain Why is it recessive? Mutation of HEXA gene on chromosome 15: abnormal form of enzyme hexosaminidase A This abnormal form cannot catalyze degradation of gangliosides Even if only one normal gene is present, sufficient enzyme can be produced to catalyze ganglioside degradation
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Mendel’s contributions: Segregation
The two members of a gene pair segregate randomly and equally into the gametes, which then combine randomly and equally to form the next generation. During gamete formation, paired unit factors (alleles) segregate randomly so that each gamete receives one or the other.
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Mendel’s Law of Segregation (1865)
The inheritance of traits is determined by "factors" (= genes) that are passed on to descendents unchanged. Alternative versions of genes (alleles) account for the variation in inherited characters. An individual inherits one such unit from each parent for each trait. The two members of a gene pair segregate randomly and equally into the gametes, which then combine randomly and equally to form the next generation. A trait may not show up in an individual, but can still be passed on to the next generation.
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Mendel’s Law of Independent Assortment (1865)
Characteristics are inherited independently of each other. Dominant traits can appear in combination either with other dominant traits or with recessive traits.
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Mendel’s contributions: Independent assortment
During gamete formation, segregating pairs of unit factors (alleles) assort independently of other pairs (e.g. color and shape are independent) EX: Female gametes from genotype RrYy Whether a gamete contains R or r has no impact on whether the gamete also contains y or Y
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Reginald C. Punnett
(1875-1967) Considered the “father” of genetics as a scientific discipline. Combined Mendel’s laws with statistics. Experimented with peas and poultry to verify Mendel’s findings. Creator of Punnett Square as method to visualize allele combinations.
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William Bateson (1861-1926)
(1861-1926) Vocal proponent of Mendel’s laws of inheritance. Translated Mendel's work into English (1901). Coined the terms “genetics,” “allelomorphs” (shortened to “allele”), “heterozygote,” and “homozygote.” Established the Cambridge School of Genetics. Collaborated with Punnett on genetic experiments
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allele
alternative form of a gene
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Testcross
a cross of an unknown genotype with the recessive genotype. Used to ascertain the identity of the unknown.
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Mutation
is the ultimate source of all heritable variation
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Point mutations
alter single nucleotides
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Sickle cell anemia
Substitution of a thymine (T) for an adenine (A) in the gene for B-globin If there’s a thymine, then the 6th amino acid is valine rather than glutamic acid The change in primary protein structure has implications for quaternary structure, and the RBC is misshapen
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Unequal crossing-over
alters larger sections of DNA
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Recombination
shuffles existing variation into new combinations Create new combinations that lead to greater levels of phenotypic variation
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Mutation and recombination are random processes | TRUE or FALSE?
TRUE New mutations or recombinations have no inherent tendency to result in adaptation…they are random with respect to adaptation Given that organisms are adapted to begin with, these changes are more likely to be nonadaptive or even maladaptive than adaptive! However, mutation and recombination can be nonrandom at the molecular or chromosomal level certain nucleotide substitutions more likely than others (e.g., purine to purine, etc)
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Limits of mutation
Mutation acts on existing genes, modifying or generating new alleles Impact may be large, or very small ~Mutation in regulatory gene or other critical genes may cause early death ~Redundancy in genetic code means not every substitution specifies a new codon (silent mutations)
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What controls mutation rate (μ)?
Nothing! Mutations happen because of sloppy copying, DNA degradation, and other random processes. Although generated thru random processes, mutations may not be propagated or inherited randomly ~Many (most?) mutations cause no effect or are deleterious and cause organism to die before birth
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Bacterial resistance
The bacterium remaining is not susceptible to treatment. It will divide and grow, with all daughter cells also having resistance. More treatment by same antibiotic will have no benefit. The mutation that provides resistance is generated randomly. Its spread through the population isn’t random, though—it is a predictable response to a set of circumstances. Pesticide resistance works on the same principle
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Co-dominance
means that both alleles are expressed, and the heterozygote manifests a third phenotype with properties of both alleles ~Both alleles are expressed: Blood Types Blood type A IAIA Blood type B IBIB Blood type AB IAIB
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Incomplete Dominance
Heterozygote results in a third unique phenotype. Alleles are “blended”together ~Red and white flowers produce a heterozygous pink flower
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Pleiotropy
A single gene impacts two or more (seemingly unrelated) traits EX: Holt-Oram (“hand & heart”) syndrome
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Holt-Oram (“hand & heart”) syndrome
Defective allele for TBX5 | Malformation of upper limbs, abnormal septa in heart
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Epistasis
One gene interferes with the expression of another gene Ex: Albinism
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Albinism
If animal is homozygous recessive (cc) at albinism locus, it’s an albino and all other colorations are phenotypically “suppressed” This occurs because albinism alleles disrupt production of melanin pigment and other phenotypes are not distinguishable without melanin Example of epistasis.
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What’s the difference between pleiotropy and epistasis?
Pleiotropy: one gene with multiple phenotypic effects Epistasis: two genes contribute to one phenotype
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Polygenic traits
Several genes may make products that contribute to phenotype (= polygenic traits) Genes encode different elements of the enzymatic pathway, or products that interact to generate phenotypic effect Traits where phenotype is determined by interaction of multiple genes Example: eye color
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Environmental effects on
Environment in which organism grows and matures determines degree to which genetic “potential” is realized Example: Temperature within the nest determines sex of turtle species.
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Maternal Effects
Special case of environmental effects Environmental features that can be attributed to mother Environment of womb/egg Amount of yolk in egg Post birth maternal care
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Variation due ONLY to environmental effects is not a factor in evolution
TRUE
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How do you know if a phenotype is environmentally or genetically determined?
~Controlled crosses Determine whether phenotypes are inherited according to expectations of Mendelian laws ~Common garden experiments Raise offspring under identical conditions Run several “gardens” to test effect of particular variables ~Cross fostering Common gardens for animals Have offspring reared by parents other than their own
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Cross fostering
Observation: hunting prowess runs in families—the best hunters are related to one another, and there is a significant difference in ability between members of one family group and another. Hypothesis: Hunting skill is genetic. Alternatively, it is learned by children through interaction and observation of parents. Null Ho: Hunting ability is determined by parentage. Break up litters at birth, randomly re-distribute young among family groups Evaluate hunting prowess: is there a correlation between birth family and hunting prowess?
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Phenotype =
Genotype + Environment | This accounts for variation
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Heritability
is the proportion of variation that can be attributed to genotype Heritability is high when environmental variation is low Indicates fidelity of trait transmission (and thus how readily evolution can act on attribute)
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Variation Relationships
Variation of the phenotype = the Variation of the environment + the Variation of the genotype. Heritability squared = Variation of the genotype divided by the Variation of the phenotype .
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Heritability and Natural Selection
Heritability determines the response to selection. Higher heritability means stronger response. If a trait is perfectly heritable (h^2 =1), then ALL of the impact of selection will be observed (perfect fidelity)
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Heritability in Parus major
Highly variable in the timing of reproduction. Is this variation genetic or environmental??? Calculated h2=0.3 for phenotype “time of egg laying” Selection acts on genetic component of this variation, favoring female “readiness”
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population
Characteristics of each population will determine how or when a species will outstrip the ability of the community to support it Fate of a population hinges on characteristics related to reproduction because that’s what determines its growth rate Reproductive potential AND reproductive effort GREATLY exceed requirements of reproductive replacement
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Hardy-Weinberg equation
``` Genotype frequencies (p + q)^2 = 1 ... (Dominant allele + recessive allele)^2 = 1 ``` Allele frequencies p + q = 1 The frequency of the dominant allele PLUS the frequency of the recessive allele equals 1. To represent the diploid condition, you square the whole thing. ``` p= frequency of the dominant allele q= frequency of the recessive allele ```
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Hardy-Weinberg Assumptions
``` 5 Assumptions Mating is random No natural selection Large population size (infinite) No new mutations No migration ``` All offspring have an equal chance of survival and reproduction = no selection Large population size: Random events will have a large impact on small populations Note that under Hardy-Weinberg assumptions, allele frequencies do not change…We are predicting genotype frequencies from these allele frequencies. Genotype frequencies in the absence of selection will “go to” Hardy-Weinberg equilibrium The frequency of alleles in the next generation (g+1) depends on the frequency of alleles in the present generation (g) If you add (or subtract) genotypes in the present, it will change the frequency in subsequent generations: Mutation!
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Hardy-Weinberg
Allows us to derive expected frequencies of alleles, genotypes, and phenotypes when particular conditions are met Provides a set of expectations against which to evaluate observed data and thus a means of assessing possible causes of change in population. What good is Hardy-Weinberg if these assumptions are usually violated? 1. Historical and conceptual importance: H-W gives a mathematical demonstration that Mendelian inheritance preserves genetic variation 2. As a null hypothesis: H-W tells us what would happen without assortative mating, natural selection, migration, and mutation - If a population deviates from H-W, something interesting is happening
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The Hardy-Weinberg requirements are integral to evolution
All offspring have an equal chance of survival and reproduction: Natural selection Large population size: Genetic drift No new alleles: Mutation and migration Random mating: Sexual selection, Geographic variation and clines If you don’t see Hardy-Weinberg equilibrium, then you can infer that one (or more) of these conditions is not being met.
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A brief recap
The appearance or performance of an individual is the product of its genotype, in concert with its environment. Gene-level variability is generated thru random processes, but its inheritance is not necessarily random. The environment in which an organism lives is variable and typically limiting with respect to some resource.
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Selection
is the nonrandom differential survival AND reproduction of particular phenotypes 2nd component of “evolution by natural selection” (1st is the origin of genetic variation) Strength of selection depends on the heritability (h^2) and on the degree of difference in fitness among phenotypes Requirements: Phenotypes have heritable basis Phenotypes have varying consequences for fitness The larger Vg is relative to Vp, the more effective selection will be
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Fitness
Fitness is determined by the reproductive output (R) for each genotype, the average reproductive output (R) of all organisms bearing the genotype. Because of environmental effects, R will not be uniform among all bearers of a genotype Defined for a genotype Pertains to a particular situation: a certain place, at a particular time The average R of the entire population (all genotypes) determines population fitness
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Reproductive output
~How many eggs are produced? Genotype Environment ~What is the probability of fertilization? Genotype Environment Reproductive output of a genotype is the individual effort of all organisms bearing that genotype. If the impact of environment is small, then there will be less variance in output among bearers of a genotype.
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Interplay of variables determines R
Balancing act with tradeoffs in costs and benefits High # of propagules incurs a high energy investment for ♀, so each typically gets less yolk or care Low investment per propagule may decrease survival rate
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Propagule
In biology, a propagule is any material that is used for the purpose of propagating an organism to the next stage in their life cycle via dispersal. The propagule is usually distinct in form from the parent organism.
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Variables shaping population structure
``` # individuals having offspring # of reproductive propagules ``` [# of reproducers] x [# of eggs] = upper limit on reproductive output per cycle Number of cycles per year (Annual, seasonal, lunar cycles) AND number of cycles per female lifespan (Age of sexual maturity, Age of sexual maturity, Fertility and fecundity change over time) influence population growth rate Reproductive senescence before death? Can effect reproductive output of the population Do females have young throughout adulthood or do they pass to non-reproductive status after a certain age (or number of eggs)? Death rate of adult males and females Survival rates of propagules How many offsping survive?
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Factors contributing to fitness:
``` # reproductive females # offspring per cycle # cycles per unit time # cycles per female lifetime Death rate of reproductive individuals Survival rate of offspring ``` Changing any of these factors will change population growth profile
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What else influences population size?
Density-independent factors Effect is the same regardless of population size or density Density-dependent factors Effect is modulated depending on population size or density Both limit the natural, genetically determined potential for population increase
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Density-independent limiting factors
``` Environmental phenomena (Drought, long winters, etc.) ``` Increase mortality across the population, thus decreasing the # of reproductive females
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Density-dependent limiting factors
~Supply of food or other resources Resources not limited for smaller populations but may become limiting as population increases ~Disease Disease may be spread more effectively Pathogens or predators may increase in #, in response to increase in prey density Density-dependent factors integrate resource availability and competition with population growth. Inter- and intraspecific interactions become critical.
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Components of fitness
Viability: Probability that individual bearing genotype will survive Fecundity: Number of gametes per individual Mating success: Number and quality of mates Gamete viability: Alleles impact the longevity or quality of the egg or sperm Fertilization success: Alleles impact the probability that fertilization will take place “Fitness” is the sum of fitness components at each of these stages
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Viability
Probability that individual bearing genotype will survive
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Gamete viability
Alleles impact the longevity or quality of the egg or sperm.
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Fertilization success
Alleles impact the probability that fertilization will take place
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survival of the fittest
In “survival of the fittest,” “fittest” means the best among known geno- or phenotypes and pertains to a particular phenotypic variable or task. We cannot easily know “absolute fitness” because we can’t tell whether a genotype or phenotype is optimal Because fitness is relative and particular to certain selective conditions, it changes!
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Selection coefficient (s)
reduction in fitness relative to best genotype (s) - Always a value between 0 (0 = no selection) and 1 (1 = complete mortality) - If s = 0, this is equivalent to Hardy-Weinberg assumption of no selection
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survival of the fittest
In “survival of the fittest,” “fittest” means the best among known geno- or phenotypes and pertains to a particular phenotypic variable or task. We cannot easily know “absolute fitness” because we can’t tell whether a genotype or phenotype is optimal. Differences in fitness generate differences in the successful transmission of alleles. Because fitness is relative and particular to certain selective conditions, it changes! Violates the expectation of the Hardy-Weinberg equation that allele frequencies will be constant. Genotypes that leave proportionally more offspring will contribute more alleles to the next generation.
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Relative Fitness Computation Example
R of AA = 0.5 R of Aa = 1.5 R of aa = 0.25 ``` W(AA) = (0.5)/(1.5) = 0.333 W(Aa) = (1.5)/(1.5) = 1.000 W(aa) = (0.25)/(1.5) = 0.167 ```
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Relative Fitness
relative measure of survival and reproduction (W) - Fitness of “best” genotype (AA, Aa) = 1 - Fitness of other genotype (aa) = 1 – s Note: this does NOT mean that AA and Aa genotypes have 100% chance of survival, only that aa has a relatively lower chance of survival. W(i) = fitness of genotype i, relative to that that of most fit genotype. W + s= 1 Divide R of each genotype by that of most successful genotype.
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If there’s no difference in survival and success...
....you still have equal frequencies for p and q (both 0.5)
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Differential survival and reproduction
- non-random process through which pre-existing variation is sorted Survival probabilities different; reproductive probability same
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directional Selection
individuals at one extreme of the range of phenotypes are fittest Taller birds fitter than shorter birds Directional selection will act to reduce # of recessive alleles Recessive allele will be reduced in frequency but not eliminated
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disruptive Selection
2 or more discontinuous phenotypes are fittest Homozygous phenotypes fitter than heterozygote Disruptive selection will maintain allele frequencies but not phenotype frequencies Frequency of heterozygote reduced. - Heterozygote persists as long as there is random mating Allele frqs may not change
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stabilizing Selection
intermediate phenotype is fittest Heterozygote phenotype fitter than homozygotes Frequency of homozygotes reduced. Reduces the variance around the mean phenotype. Do you expect changes in allele frequency? Stabilizing selection often involves a balance between conflicting selective pressures. Example: Higher birth weight has higher cost in terms of maternal resources. Gestational diabetes, stress on baby’s organs may be incurred at higher birth weight. Lower birth weight has high cost in terms of baby’s health.
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Stabilizing selection may explain persistence of diseases
Cystic fibrosis is a recessive condition carried by 1 out of 25 people of European descent Mutant protein results in problems maintaining intercellular fluid levels. Heterozygotes have some protection against cholera. Sickle cell anemia is a recessive condition carried by 1 in 13 African Americans. Mutant red blood cells clog blood vessels. Heterozygotes have resistance to malaria.
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Stabilizing selection may explain persistence of diseases
Cystic fibrosis is a recessive condition carried by 1 out of 25 people of European descent. Mutant protein results in problems maintaining intercellular fluid levels. Heterozygotes have some protection against cholera. Sickle cell anemia is a recessive condition carried by 1 in 13 African Americans. Mutant red blood cells clog blood vessels. Heterozygotes have resistance to malaria.
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Negative Selection
When selection acts to eliminate a phenotype or genotype, selection is negative.
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Frequency-dependent selection
Fitness of a genotype is relative to its frequency in the population. Selective regime and its impact differ depending on the frequency of pheno- or geno-types. - Host-parasite systems - Immune responses to pathogens - Batesian mimicry Ex: Lake Tanganyika scale-eating fish
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Frequency-independent selection
Selective regime does not depend on the frequency of the allele in the population
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What maintains polymorphism in natural populations?
Natural selection and Balanced polymorphism: - Heterozygote advantage - Negative frequency-dependent selection - Environmental heterogeneity - Disruptive selection (can be result of environmental heterogeneity)
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Heterozygote advantage: | Sickle cell anemia & Malaria
Malformed (sickle) red blood cells due to genetic variant of α-hemoglobin. Inherited as a recessive trait (AA) = normal, (aa) = sickle cell. Sickle cells block capillaries, cause anemia, 80% pre-reproductive mortality Yet it persists (10%) in some populations and causes ~ 100,000 deaths/year Why does this highly lethal disease persist? ``` Malaria is a highly lethal disease caused blood parasites (Plasmodium) ``` ``` Normal RBCs (AA) are vulnerable to infestation by Plasmodium (malaria bug) ``` ``` Sickle cells (aa) are not vulnerable to Plasmodium; but cause sickle cell anemia ``` What about heterozygotes? (Aa) RBCs usually normal, unless O2 concentration drops, then they sickle. When Plasmodium enters RBC, it destroys hemoglobin, causing drop in O2 and sickling Sickling kills Plasmodium in the cell, but leaves uninfected cells intact Host survives because most RBCs are uninfected and carry O2 normally Balanced polymorphism Heterozygote advantage maintains both alleles in populations where malaria is present One consequence is that many individuals will suffer from sickle cell anemia in these populations The prevalence of sickle cell anemia is high in the “malarial zone” e.g., Equatorial areas with plenty of mosquito vectors. Without natural selection due to malaria, the heterozygous advantage would be lost
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Heterozygote advantage
What happens if Heterozygote is most fit. - Fitness: AA = 1 – s Aa = 1 aa = 1 – t Three possible equilibria: 1. A goes to fixation (p = 1, q = 0) 2. a goes to fixation (p = 0, q = 1) 3. balanced polymorphism: - chance of death for an A gene = chance of death for an a gene These are equilibrium allele frequencies where both homozygotes have lower fitness than heterozygotes.
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Negative frequency dependence
- Fitness declines as the genotype becomes more common | - Maintains polymorphism
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Positive frequency dependence
- Fitness increase as the genotype becomes more common | - Eliminates polymorphisms
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Frequency dependent selection Example
Lizards and the rock-scissors-paper game - Uta stansburiana males are polymorphic for throat color (red, blue, or yellow) - Each type of male also has a different mating strategy - Throat color is heritable: OBY locus (3-allele system)
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Disruptive/diversifying selection Example
Brown anole (Anolis sagrei) Males exhibit 2 fitness optima corresponding to 2 “habitat niches Small limbs – suited to narrow perches Large limbs – suited to broad perches
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Environmental heterogeneity
Multiple “strategies” are possible: Disruptive selection may reflect environmental heterogeneity, as in the case of Brown anoles where two “niches” are present (narrow twigs vs. broad trunks). Beak size in seed-cracker finches... Discrete polymorphism for beak size: Small-billed individuals specialize on small, soft seeds Large-billed individuals specialize on large, hard seeds Intermediate beak size is selected against because it is inefficient for cracking both large and small seeds Unlike Darwin’s Galapagos finches, there are no individuals with intermediate beak sizes in the African black-bellied seed cracker. Peppered moths How could environmental heterogeneity allow both melanic and peppered moths to exist in balanced polymorphism?
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Adaptations
specialized features that enhance fitness; the process by which features that enhance fitness are fixed in a population or species
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Common Adaptations
Feeding specializations Crypsis Mate attraction or competition
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Crypsis
crypsis is the ability of an organism to avoid observation or detection by other organisms
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Adaptations MUST
Improve fitness such that organisms WITH the trait have higher fitness than those without (All other things being equal) Show correlation between the presence of the feature and the hypothesized selective pressure
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The problem of causation
Differential reproductive success and survival are the effect of differences in fitness Because of linkage among traits (pleiotropy) and passage of time, it can be complicated to evaluate WHAT selection has selected FOR (and thus it can be hard to determine whether something is an adaptation)
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Darwins_finch_data
Are individuals variable? YES: Broad range of beak depths in a single population Is variation heritable? YES: Parents with large beaks have offspring with large beaks Is there a struggle for existence? YES: More offspring are produced in 1975 than actually survive to 1978. Is there differential survival? YES: Finches with larger beaks are (on average) more likely to survive. Possible mechanism: Mortality coincides with decline in seed abundance due to a severe drought in 1977. Suggests that seed availability could be an important selective pressure. Does this selection act on beak size? ~Why was there differential survival? Change in environmental conditions - During drought, large seeds were much more abundant than small seeds Note that natural selection is not necessarily constant through time: It may occur only under certain environmental conditions (e.g. drought).
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Summary of Geospiza fortis
Were the 4 conditions for natural selection met? 1. Individuals in a population are variable - YES 2. Some of this variation is heritable - YES 3. A struggle to survive and reproduce - YES 4. Differential survival and reproduction - YES What does this demonstrate? 1. Natural selection can act on beak size 2. Beak size can evolve in response to relevant selective pressures, such as the availability of various food types What is left unanswered? Dozens of interesting questions about how and why the finches as a group evolved such diversity in form and behavior…