Exam 1 Flashcards

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1
Q

How many people infected by HIV worldwide?

A

~76 Million

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2
Q

How does HIV spread?

A

Through bodily fluids

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3
Q

What is HIV?

A

Intracellular parasite

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4
Q

Cells vulnerable to HIV?

A

Macrophage cells, effector helper T cells, memory helper T cells

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5
Q

What does HIV latch on to on the outside of the cells?

A

CD4 and CCR5 Receptors

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6
Q

Why is HIV difficult to treat?

A

Hard to find drugs that interrupt the viral life cycle but not the host cell’s life cycle

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7
Q

How does the body respond to HIV infection?

A

Destroys virion in bloodstream, kills infected T cells and macrophages

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8
Q

What is AIDS?

A

Acquired Immune Deficiency Syndrome

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9
Q

When does AIDS occur after infection?

A

~10 years

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10
Q

How does HIV cause AIDS?

A

The immune system begins to collapse and can no longer fend off a number of opportunistic viruses, bacteria, and fungi

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11
Q

What is AZT?

A

Reverse transcriptase inhibitor that prevents HIV from reproducing

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12
Q

How does AZT work?

A

It inserts itself (azidothymidine) in thymidine’s place in growing DNA strand, stops transcription

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13
Q

Why doesn’t AZT effect our own transcriptase?

A

Our cells are more selective and will not choose the AZT in place of T

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14
Q

Why does AZT fail in the long run?

A

Natural mutations in HIV that are more selective (don’t pick AZT over T) will increase in abundance as all of the ones that AZT worked on die out

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15
Q

Coreceptor Inhibitors

A

Block HIV from attaching to cells

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16
Q

Entry/Fusion Inhibitors

A

Bar entry into host cell

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17
Q

RT Inhibitors

A

Inhibit reverse transcriptase by mimicking normal building blocks of DNA or interfere with bonding site

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18
Q

Integrase Inhibitors

A

Block viral DNA incorporation into host DNA

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19
Q

Protease Inhibitors

A

Block the enzyme that cleaves precursor proteins to allow maturation of virions

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20
Q

HAART Cocktails

A

Highly Active Anti-Retroviral Therapy (mix of many drugs)

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21
Q

What did HIV evolve from?

A

SIV (simian Immunodeficiency Virus)

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22
Q

HIV-1

A

The most prevalent and pathogenic type of HIV virus, came from chimps

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23
Q

HIV-2

A

Found primarily in West Africa and less virulent, came from sooty mangabeys

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24
Q

HIV-1 Group M

A

Major/Main
9 Subtypes
Global (95%)

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25
Q

HIV-1 Group N

A

Non-M, Non-O
< 20 cases
Cameroon only

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26
Q

HIV-1 Group O

A

Outlier
High diversity
West-Central Africa

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27
Q

HIV-1 Group P

A

Pending
One case
Found in gorillas

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28
Q

Virulence

A

Severity or harmfulness of a disease
Caused by reproduction rate of a virus

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29
Q

Transmission Rate Hypothesis

A

If transmission of sexually transmitted diseases is frequent, virulent viruses are naturally selected. If transmission is low, less virulent strains are selected. Cost/benefit ratio for the virus

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30
Q

Relationship between HIV virulence and sexual practices

A

Increase in safe sex decreases virulence, no change in practices keep virulence the same

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31
Q

Delta32 Mutation

A

Has 32-base pair deletion so CCR5 coreceptor does not present itself on surface of host T-cells

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32
Q

Special Creation

A

Earth 6,000-10,000 years old
Species independently created
Species do not change

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33
Q

Descent with Modification

A

Species change over time
New life forms derive from old life forms
Earth 4.5 billion years old

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34
Q

Microevolution

A

Species change over time

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35
Q

Speciation

A

Lineages split and diverge

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36
Q

Macroevolution

A

New life forms derive from older forms

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37
Q

Common Ancestry

A

All life forms are related

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38
Q

Discovery of Charles Darwin

A

Natural selection, the mechanism of evolution (NOT evolution itself)

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39
Q

Hutton Hypothesis

A

Proposed geological change because of Earth’s hot core

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40
Q

Lamarck Hypothesis

A

Species evolve through use and disuse, and those change are heritable

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41
Q

Paul Kammerer Experiment

A

Inheritance of acquired traits in midwife toads when forced back into water

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42
Q

Darwin’s Biogeographic Discoveries

A

Plants and animals more similar based on location rather than biome type

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43
Q

Darwin’s Geology Discoveries

A

Fossils of seashells in mountains
More recent the fossils, more similar to extant organisms

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44
Q

Uniformitarianism

A

Earth has been undergoing the same natural processes since the beginning

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45
Q

Most important observations made in the Galapagos Islands

A

Animals on island most similar to those on mainland South America
Islands have different environment, organisms also differed

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46
Q

Works by Darwin

A

Origin of Species
Descent of Man

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47
Q

Evidence for Evolution

A

Selective breeding (species not immutable)
Vestigial structures
Homology
Fossil record

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48
Q

Vestigial Structures

A

Structure in an organism that has lost all or most of its original function in the course of evolution

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49
Q

Homologous Structures

A

Structures that are inherited from a common ancestor but may have different functions (ex. forelimb of mammals)

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50
Q

Analogous Structures (Homoplasy)

A

Structures similar in appearance and function but details of structure differ and not derived from common ancestor

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51
Q

Convergent Evolution

A

When. two or more unrelated lineages. acquire the same biological trait because of selection for a shared ecological niche

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52
Q

Functional Genes

A

Exons
Introns
Promoters

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53
Q

Processed Pseudogenes

A

Missing introns and promoters (non-functional)

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54
Q

What causes processed pseudogenes?

A

Reverse transcription of mRNA into DNA and put randomly at another locus

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55
Q

Law of Succession

A

States that extinct specie are ancestors of living species

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56
Q

Transitional Forms

A

Organisms that usually show a blend of traits that you would expect at intermediate stages of evolution (can be alive or in fossil record)

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57
Q

Example of living transitional form

A

Amphibious Mudskipper compared to aquatic and terrestrial relatives

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58
Q

Example of fossil transitional form

A

Archaeopteryx (Dino with modern flight feathers)

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59
Q

What does the universal genetic code support?

A

Evidence we all descend from a common ancestor

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60
Q

Universal Genetic Code

A

With only minor exceptions, all organisms studied to date use the same nucleotide triplicates or codons to specify the same amino acids

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61
Q

Who first proposed continental drift?

A

Alfred Wegener
Said the continental shelves fit together like a puzzle (plate tectonics)

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62
Q

How was Earth concluded to be very old?

A

Early geologists measured rates of erosion, then also used relative dating

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63
Q

Marie Tharp

A

Combined datât from ship surroundings and undersea earthquakes to make map of seafloor (confirmed plate tectonics)

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64
Q

Marie Curie

A

Discovered radioactivity
Lead to radiometric dating

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65
Q

Radiometric Dating

A

Absolute dating of rocks measuring decay of radioactive isotopes into its daughter isotopes using known half-life rates

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66
Q

Half-life

A

Length of time for 50% of an isotope to decay

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67
Q

Age of Earth

A

4.54 ± 0.05 billion years

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68
Q

Age of Life

A

~3.7 billion years

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69
Q

Darwin’s Four Postulates

A

Variation between individuals within a population
Some variation is passed on to offspring
More young are born than can survive
Survival and reproduction are not random

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70
Q

Who else independently developed a theory of natural selection?

A

Alfred Russel Wallace

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71
Q

fw2.2 gene

A

Protein made during early fruit development to repress cell division (ex. tomatoes)

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72
Q

Darwinian Fitness

A

The ability of an individual to survive and reproduce in its environment

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73
Q

Darwinian Fitness Example

A

Beach mice of Alabama/Florida

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74
Q

Where did Peter and Rosemary Grant study finches?

A

Galapagos Islands, isla Daphne Major
Most isolated island because of distance from other islands

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75
Q

How did the Grants test for postulate 1?

A

Was beak depth variable? Yes

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76
Q

How did the Grants test for postulate 2?

A

Is the variation in be beak depth heritable? Yes

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77
Q

Why is measuring heritability difficult?

A

Misidentified paternity
Nest parasitism (birds)
Maternal effects
Shared environments

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78
Q

BMP4

A

Bone morphogenic protein 4
Associated with deep beaks

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79
Q

How did the Grants test for postulate 3?

A

Testing for excess offspring
89% die before reproduction

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80
Q

How did the Grants test for postulate 4?

A

Was survival nonrandom (due to beak depth)? Finches with deepest beaks survived more during drought

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81
Q

Why were deep finch beaks favorable after drought?

A

Only birds with deep, narrow beaks could crack the fruit of one of the one plant that could produce fruit

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82
Q

What does natural selection act on?

A

Individuals and EXISTING phenotypes (can’t make new ones)

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83
Q

Where does evolution occur?

A

Populations and allele frequencies

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84
Q

Where is the evidence of natural selection seen?

A

The NEXT generation, its a backwards looking process (not predicting for the future)

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85
Q

Artificial Selection Experiment

A

Selection for highest oil content in corn, over 60 years went from 4-6% to 20% oil

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86
Q

How did pandas get as “thumb” if natural selection can’t make new structures?

A

Elongated wrist bone grew to serve as a sort of thumb (natural selection used what was already there)

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87
Q

Is natural selection perfect?

A

No, it makes organisms good enough for survival

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88
Q

Darwin’s 3 Problems

A
  1. Did not know how variability was created (mutations)
  2. Did not know how traits were inherited (alleles)
  3. Earth thought to be 15-20 million years old and two young for mutation (radioactive isotopes proved older)
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89
Q

How did Darwin understand variability?

A

Thought there was set variability and it would all eventually be used up

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90
Q

How did Darwin understand traits?

A

Thought individual traits would be lost eventually by merging with other traits

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91
Q

The Modern Synthesis

A

The fusion of genetics with evolutionary biology

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92
Q

Modern Synthesis Postulate 1

A

Individuals within a population are variable because of mutations making new alleles and recombination of those alleles

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93
Q

Modern Synthesis Postulate 2

A

Individuals pass their alleles onto their offspring

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94
Q

Modern Synthesis Postulate 3

A

In most generations, more offspring produced than can survive

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95
Q

Modern Synthesis Postulate 4

A

Individuals that survive and reproduce the most are those with alleles and allelic combinations that best adapt them to their environment

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96
Q

Is natural selection the only cause of evolution?

A

No, just means of adaptive evolution

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97
Q

Scopes Monkey Trial

A

Tennessee schoolteacher John Scopes was arrested for teaching the theory of evolution despite a state law banning it

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98
Q

When did the US protest teaching evolution by law?

A

1967

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99
Q

When was “Creation Science” (creationism) banned being taught in public schools?

A

1987

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100
Q

Why was creationism given the title creation science?

A

So it would look less religious and be taught alongside evolution

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101
Q

What did creationism morph into?

A

Intelligent Design Theory

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102
Q

Argument by William Paley

A

Like a watch, which you would assume was made by an intelligent organisms, the vertebrate eye must be the same

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103
Q

Darwin rebuttal to Paley

A

Vertebrate eyes must have arisen from simpler eye
Proof of simpler eyes in living organisms

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104
Q

How does science differ from creationism?

A

Creationism does not use evidence to test its claims, does not allow evidence to alter beliefs, and does not grow in capacity to explain the natural world

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105
Q

Hypothesis

A

A proposition

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106
Q

Scientific Fact

A

A hypothesis that has become so well supported by evidence that we feel safe in acting as if it were true

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107
Q

Scientific Theory

A

A mature, interconnected body of statements, based on reasoning and evidence, that explains a wide variety of observations

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108
Q

Is evolution untestable?

A

No, you can test the 4 postulates of evolution
Can test predictions based on evolution

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109
Q

How has entropy been compared to evolution?

A

Since organisms evolve to be more complex, they are going against the idea of entropy

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110
Q

Why does evolution NOT break the second law of thermodynamics?

A

Entropy only applies to CLOSED systems which Earth is not, also organisms don’t always evolve to be more complex

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111
Q

Example of organisms evolving to be less complex

A

Snakes losing their legs

112
Q

Entropy

A

A measure of disorder or randomness

113
Q

Significance of butterfly. species in genus Hedylepta?

A

Genus to native Hawaii, but 2 species have mouthparts which only allow them to eat bananas (which were only introduced to Hawaii 1000 years ago) -> proof of species evolution

114
Q

How old was Earth originally thought to be based on combustion?

A

15-20 million years old

115
Q

Is the sun combustion or nuclear fusion?

A

Nuclear fusion

116
Q

Epigenetics

A

The environment can influence the way genes are expressed

117
Q

Examples of observed evolution

A

HIV
Daphne Major finches
London Underground vs Above Ground mosquitoes

118
Q

Systematics

A

Study of biological diversity and evolutionary relationship of organisms

119
Q

The two field of Systematics

A

Study of biological diversity and evolutionary relationship of organisms

120
Q

Taxonomy

A

The science of naming taxa and placing them into groups

121
Q

Taxon

A

Species, genus, or kingdom, etc

122
Q

Is taxonomy absolute?

A

No, taxonomy is always changing as new data is discovered

123
Q

Where do the formal rules of taxonomy come from?

A

International Union of Zoological Nomenclature

124
Q

Who was the father of modern classification system (binomial nomenclature)?

A

Carolus Linnaeus

125
Q

Taxonomic levels from highest to lowest

A

Kingdom, Phylum, Class, Order, Family, Genus, Species

126
Q

What levels of classification are in binomial nomenclature?

A

Genus species

127
Q

How are taxonomic groups formed?

A

Based on evolutionary history regardless of outwards similarity

128
Q

How did scientists used to form taxonomic groups?

A

Based on similarity of appearance

129
Q

What makes grouping organisms into taxonomic groups difficult?

A

Convergence/Homoplasies

130
Q

Phylogeny

A

Hypothesis of evolutionary relationships

131
Q

Phylogenetic Tree

A

Graphical summary of evolutionary history

132
Q

Is phylogeny absolute?

A

No, it is only an estimate

133
Q

Law of Parsimony

A

The simplest explanation is most likely to be true

134
Q

Occam’s Razor

A

Law of Parsimony
Trying to minimize homoplasy in a data set

135
Q

Who came up with Occam’s Razor?

A

William of Ockham

136
Q

Homology

A

Evolutionary relationships should only be reconstructed from traits that are similar because they are derived from a common ancestor

137
Q

Synapomorphy

A

Shared derived characters of all members of a group

138
Q

What is used to decide where branches should be on a phylogeny?

A

Synapomorphies

139
Q

Can common ancestors ever be living?

A

NO! Even the most ancient-like animals that are typically the outgrip are still not technically the same species as the ancestor placed at where that branch splits

140
Q

Autapomorphy

A

Unique derived trait

141
Q

Can autapomorphies be used for estimating relatedness?

A

No, they are basically useless

142
Q

Pleisiomorphy

A

Any ancestral or primitive character
Shared among members of a clade, but significantly older than that group’s common ancestor

143
Q

What is a pleisiomorphy also know as?

A

Sympleisiomorphy

144
Q

Homoplasy

A

A similar (analogous) structure or molecular sequence that has evolved independently in two species

145
Q

What creates homoplasies?

A

Convergent evolution

146
Q

Does homoplasy come from common ancestry?

A

No

147
Q

What traits are uninformative?

A

Autapomorphies

148
Q

Uniformative

A

Not very useful or helpful info

149
Q

What kind of characters does homoplasy choose?

A

Characters that evolve slowly relative to the age of taxa

150
Q

Maximum parsimony method

A

Minimizes total amount of evolutionary change in a tree

151
Q

Evolutionary Reversal

A

When a lineage evolves toward one of its ancestral traits, effectively losing a more recently evolved trait

152
Q

What are the most common types of traits?

A

Synapomorphies

153
Q

Assumptions of characters for phylogenetic analysis

A

Homology
Character states have genetic basis
Characters are independent
Characters evolution reflects organismal phylogeny

154
Q

Examples of phylogenetic characters

A

DNA sequence
Presence/Absence of skeletal elements
Mode of embryonic development

155
Q

Pros of grouping taxon with morphological traits

A

Well established characters
Loss of material
Less expensive
Examine many “genes” at once
Can use fossils
Can look at more individuals more often

156
Q

Pros of grouping taxon with molecular traits

A

Huge number of characters
Closer to real genetic basis
Better models of how characters evolve
More amenable to certain analyses

157
Q

3 Principles of Cladistics

A
  1. Any group of organisms is related by descent from a common ancestor
  2. There is a bifurcating pattern of cladogenesis
  3. Change in characteristics occurs in lineage over time
158
Q

Cladistic methods of phylogenetic

A

Techniques that identify monophyletic groups based on synapomorphies and direction of change through time

159
Q

Most commonly used cladistic method

A

Outgroup method

160
Q

Outgroup

A

A closely related taxon that is used to represent the ancestor

161
Q

What does the outgrip in a phylogenetic tree tell ups?

A

Which characters are derived and which are ancestral

162
Q

Clade

A

Monophyletic group (they mean the exact same thing)

163
Q

When are all synapomorphies congruent?

A

When no convergence or reversal occurs

164
Q

Node (on a genetic tree)

A

Represent EXTINCT taxa and bifurcating branching points

165
Q

What does it means when you rotate a branch about the node of a tree?

A

As long as it does not change the relationships, it will still represent the same tree

166
Q

Cladogram vs Phylogram

A

Cladogram- branch lengths have no meaning
Phylogram- branch lengths are proportional to change

167
Q

What does cladogram branch length mean?

A

Represent the amount of changes that have been undergone

168
Q

Polytomy

A

A branch point form which more than two descendant groups emerge

169
Q

Why is there polygamy in some trees?

A

It occurs when the evolutionary relationship between 3 or more species is not fully understood and so is left unresolved

170
Q

Monophyletic Group

A

All members are believed to stem from a single common ancestor, and the group includes this common ancestor

171
Q

Paraphyletic Group

A

Group that is monophyletic except that some descendants of the common ancestor have been left out

172
Q

Polyphyletic Group

A

Consisting of unrelated lineages, each more closely related to other lineages not placed in the taxon

173
Q

What is more common, paraphyly or polyphyly?

A

Paraphyly

174
Q

What is more troublesome, paraphyly or polyphyly?

A

Polyphyly (again, complicates finding monophyletic groups to classify species)

175
Q

Order of whales and dolphins

A

Cetacea

176
Q

Synapomorphy of Cetacea

A

loss of posterior limbs

177
Q

What order are whales closely related to?

A

Artiodactyla (even toed ungulates) which includes pigs, camels, cattle, and hippos

178
Q

What does new molecular research suggest about where hippos belong in phylogenetic trees?

A

Hippos more mostly related to Cetacea than previously thought (based on genetics)
Clade of cetaceans with hippos more likely than clade with all artiodactyls and cetaceans

179
Q

Why are homoplasies hard to identify in molecular phylogeny?

A

Only 4 bases (ATCG)

180
Q

Why were hippos previously believed to not be as closely related to whales?

A

Whales lack the astragalus, which all artiodactyls have

181
Q

Astragalus

A

Ankle joint bone

182
Q

What morphological data suggested that whales may be artiodactyls?

A

While modern whales don’t have an astragalus, extinct whales with legs had features of astragalus similar o artiodactyls

183
Q

How do scientists evaluate the statistical confidence in a tree?

A

Bootstrapping

184
Q

Bootstrap values

A

Percentages of the number of times the same branch arose after repeated sampling

185
Q

When percent of bootstrap support is needed to indicate the correct relationship in a tree?

A

Over 70%

186
Q

Reconstruction methods for trees besides parsimony

A

UPGMA
Neighbor Joining
Maximum Likelihood
Bayesian Analysis

187
Q

UPGMA

A

Unweighted pair-group method using arithmetic averages

188
Q

Neighbor Joining

A

A distance method for reconstructing phylogenies; identifies the tree topology with the shortest possible branch lengths using ALL characters (homoplasy, synapomorphies, autapomorphies, etc)

189
Q

Maximum Likelihood

A

Assumes a particular probabilistic model of sequence evolution and then calculates for each tree the probability of the data given the tree P(data|tree)

190
Q

What characters does the maximum likelihood method use?

A

Synapomoprhies
Autapomorphies
Invariant Sites
ALL DATA

191
Q

What does the maximum likelihood calculate?

A

The likelihood statistic, which helps estimate the topology of the tree

192
Q

Distance reconstruction methods for trees

A

Uses differences (distances) among genetic character states to group taxa
NOT a cladistic method
Typically very fast and easy to estimate trees

193
Q

Why aren’t distance methods considered cladistic?

A

They do not look for synapomorphies, just overall similarity
Prone to error when many homoplasies present

194
Q

Topology

A

Shape of phylogenetic trees

195
Q

How accurate are maximum likelihood methods?/

A

VERY accurate, among the most accurate methods

196
Q

Is maximum likelihood a quick process or a long process?

A

Very computationally intensive
A tree with 100 species may take several months

197
Q

Bayesian Markov Chain Monte Carlo

A

Combine Bayesian statistics with Marcov Chain Monte Carlo algorithms
P(tree|data)

198
Q

Characteristics of ancient fossils related to whales and artiodactyls

A

Whale like ear bones
Artiodactyls like astragalus

199
Q

SINE/LINE

A

Non-coding DNA inserted into genomes (retrotransposons)

200
Q

Molecular Clock

A

Model that uses DNA comparisons to estimate the length of time that two species have been evolving independently

201
Q

What does the molecular clock hypothesize?

A

Molecular change happens at a steady rate
Use known dates to calibrate the molecular clock

202
Q

What is used to calibrate a molecular clock?

A

Fossils or geological events

203
Q

What rate do most taxa progress on molecular clocks?

A

2% sequence divergence per million

204
Q

What genes do molecular clocks use?

A

Mitochondrial genes (because other gene evolve at different rates)

205
Q

Difficulties with molecular clocks

A

Many estimates/assumptions are likely to have a high degree of uncertainty
Many irregularities caused by natural selection and/or evolutionary fluctuations

206
Q

What kind of group is artiodactyla?

A

Not monophyletic
Order Cetacea should be sunk to family level

207
Q

How is phylogeny mapping done?

A

Optimizing all characters on a phylogeny

208
Q

Sources of Variation

A

Genetic
Environmental
Genotype-by-environment interaction

209
Q

Examples of genetic variation in humans

A

Whether phenythiocarbamide (PTC) tastes bitter or not (and overall ability to detect toxins)

210
Q

Gene responsible for bitter flavors in humans

A

TAS2R38

211
Q

What chromosome is TAS2R38 on?

A

7

212
Q

What alleles are involved in the TAS2R38 gene?

A

PAV (encodes proper PTC taste receptor)
AVI (encodes deformed PTC taste receptor)

213
Q

Environmental Variation

A

Traits that are not genetically controlled (not heritable)

214
Q

Phenotypic Plasticity

A

The ability of an organism to change its phenotype in response to changes in the environment

215
Q

Phenotypic plasticity is a form of what kind of variation?

A

Environmental

216
Q

Inducible Defenses

A

Defensive traits produced only in response to the presence of a predator

217
Q

Inducible defenses are considered what kind of variation?

A

Environmental

218
Q

Example of genotype-by-environment interaction in humans

A

Hating cilantro

219
Q

Reaction Norm

A

Phenotypic expression of a single genotype across a range of environments

220
Q

How is genotype-by-environment interaction tested?

A

Testing a phenotype across a range of environments (if there’s no interaction, the phenotype should be the same in all environments)

221
Q

Reaction Norm Graph

A

Steepness of slope indicates amount of plasticity

222
Q

Example of environmental sex determination

A

Sex determination in leopard geckos
Genotype and temperature influence sex (G-by-E interaction)

223
Q

What is the raw material of evolution?

A

Mutations

224
Q

What creates new alleles?

A

Mutations

225
Q

Components of DNA

A

Deoxyribose sugar
Phosphate group
Nitrogenous base

226
Q

How many rings in purines?

A

2

227
Q

How many rings in pyrimidines?

A

1

228
Q

What enzyme helps with DNA replication?

A

DNA polymerase

229
Q

DNA Polymerase

A

Enzyme involved in DNA replication that joins individual nucleotides to produce a DNA molecule

230
Q

Point Mutation

A

Gene mutation in which a single base pair in DNA has been changed

231
Q

Order of pathway in protein synthesis

A

DNA -> mRNA -> protein

232
Q

Why don’t all point mutations result in a change of protein?

A

Multiple codons can code for the same amino acid

233
Q

Transition Mutation

A

Change from purine to purine or pyrimidine to pyrimidine

234
Q

Transversion Mutations

A

Change between purine and pyrimidine or vice versa

235
Q

What kind of point mutations are most common?

A

Transition mutations (2x as common as transversions)

236
Q

Exons

A

Expressed sequence of DNA; codes for a protein

237
Q

Introns

A

Noncoding segments of DNA that lie between coding sequences

238
Q

Synonymous Mutation

A

“Silent”
Does not change amino acid sequence

239
Q

Nonsynonomous Mutation

A

“Replacement”
Changes amino acid sequence

240
Q

Frameshift Mutations

A

Mutation that shifts the reading frame of the genetic message by inserting/deleting a nucleotide

241
Q

Nonsense Mutation

A

(Point Mutation) changes a normal codon into a stop codon

242
Q

What causes gene duplications?

A

Unequal crossing over during meiosis

243
Q

Where do new genes come from?

A

Gene duplication
Retroposition

244
Q

Retroposition

A

Processed mRNA inserted back into genome

245
Q

Gene duplication relating to mutations

A

Creates an extra copy that is free from natural selection and able to accumulate mutations

246
Q

Example of gene duplication in humans

A

Different global gene families
Produced by past gene duplication events that allowed the gene to take on new functions over time

247
Q

Paralogous Genes

A

Genes that duplicated and diverge in a species (like globin in humans) _> may have different functions

248
Q

Orthologous Genes

A

Genes that are homologous and evolved from a common ancestral gene by speciation (like the original globin gene that can also be found in mice)

249
Q

Inversions

A

Segment of DNA is cleaved in two places, the excited segment flips, and re-anneals in the opposite direction

250
Q

Problem with inversions

A

Can disrupt gene linkage
Cannot align properly with homologs (makes dysfunctional gametes)

251
Q

Example of Inversions

A

Fruit flies
5/6 chromosomes are polymorphic for inversions
Inversion frequencies vary along cline

252
Q

Polyploidy

A

Entire extra sets of chromosomes

253
Q

what species most commonly have polyploidy?

A

Plants and rare in animals
Hermaphroditic species that can self-fertilize

254
Q

How can polyploidy lead to speciation?

A

Meiosis error creates diploid gametes
If two diploids fuse, they make tetraploid
If two tetraploids can mate, a new species is created

255
Q

How does triploidy occur?

A

If diploidy gamete fuses with a haploid one

256
Q

How fertile are triploids?

A

Low fertility unless parthenogenetic

257
Q

Why are polyploids so prone to speciation?

A

They have entire chromosomes of genes that are free from natural selection and can undergo mutation

258
Q

Kleptogenesis

A

Female “steals” sperm from the male, used for energy or to stimulate parthenogenesis, but not fertilization, then eject the sperm nucleus

259
Q

Example of triploid species

A

Ambystoma Salamanders
Use reproductive mode of kleptogenesis

260
Q

What causes sickle cell anemia?

A

Single transversion in hemoglobin gene

261
Q

Where is the best data on mutation rates from?

A

Loss-of-function mutations

262
Q

Loss-of-function Mutations

A

Mutation deactivates gene and causes protein not to be made

263
Q

What are loss of function mutations caused by?

A

Point mutations
Insertions
Deletions
Transposable genetic elements

264
Q

What percentage of human gametes carry a phenotypically detectible mutation?

A

10%

265
Q

Why are mutation rates variable?

A

DNA polymerase vary in error rates
Mismatch repair systems vary in effectiveness
Some species have varying mutation rates overall

266
Q

Examples of species with high mutation rate vs low mutation rate

A

High: Viruses
Low: Fruit flies

267
Q

What regions of DNA have more mutations, coding, or noncoding?

A

Noncoding DNA regions (natural selection allows for less errors)

268
Q

What was traditionally believed about allelic variation?

A

Was low within populations
Variation from wild type was rare

269
Q

How do we known that genetic variation within populations is actually very high?

A

Huge advances in methods for directly measuring genetic and genomic diversity

270
Q

How are genotypes determined?

A

For ome loci, examining phenotype
Others, looking directly at proteins or DNA sequences

271
Q

Gel Electrophoresis

A

Applying electric current to samples of DNA and proteins so they migrate to oppositely charged poles, they migrate according to size and mass (different sized alleles go different distances)

272
Q

HIV Infections and CC-CKR-5 gene

A

Encodes for CCr5 surface protein receptor
If homo, dom (+/+) can be infected
If homo rec. (Delta32/Delat32) cannot be infected
If het. (+/Delta32) infected but progress to AIDS slower

273
Q

Mean Heterozygosity

A

Average frequency of heterozygotes across loci in the genotype of the average individual

274
Q

Percent of polymorphic loci

A

Fraction of loci in a population that have multiple alleles

275
Q

Selectionist Theory

A

Natural selection favors allelic diversity

276
Q

Neutral Theory

A

Polymorphic alleles are functionally equivalent so they are not selected against

277
Q

What factors can influence rate of mutation?

A

Environmental:
UV Radiation
Carcinogens