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Questions and Answers

In phylogenetic analysis, what distinguishes a hard polytomy from a soft polytomy?

  • Hard polytomies indicate uncertainty in divergence timing, while soft polytomies represent simultaneous divergence events.
  • Hard polytomies represent speciation events with well-resolved divergence times, while soft polytomies indicate simultaneous divergence.
  • Hard polytomies represent simultaneous divergence events, while soft polytomies indicate uncertainty in divergence timing. (correct)
  • Hard polytomies are resolved using morphological data, while soft polytomies require molecular data for resolution.

Which of the following statements best describes the principle of parsimony in phylogenetic analysis?

  • It uses prior information and Bayesian probability to determine the most likely evolutionary relationships.
  • It constructs phylogenetic trees based on the most complex explanations of evolutionary change, accounting for all possible mutations.
  • It favors phylogenetic trees that maximize the probability of observed evolutionary changes based on complex models of substitution.
  • It selects the phylogenetic tree requiring the fewest evolutionary changes to explain the observed data. (correct)

What is the key difference between orthology and paralogy in the context of molecular data and phylogenetic analysis?

  • Orthologous genes arise from gene duplication events, while paralogous genes arise from speciation events.
  • Orthologous genes are found in different gene families, while paralogous genes are always in the same gene family.
  • Orthologous genes are copies within the same organism, while paralogous genes are copies across different species.
  • Orthologous genes provide accurate phylogenetic information, while paralogous genes can lead to incorrect phylogenetic inferences. (correct)

In Bayesian phylogenetic inference, the posterior probability of a tree is calculated using the formula: $P(Tree | Data) = \frac{P(Data | Tree) \times P(Tree)}{P(Data)}$. Which component represents the prior probability of the tree?

<p>$P(Tree)$ (C)</p> Signup and view all the answers

Which type of molecular data alignment necessitates inserting gaps to achieve a uniform sequence length?

<p>DNA, RNA, and proteins/amino acids (B)</p> Signup and view all the answers

In a population, if the frequency of the homozygous recessive genotype (aa) is 0.16, what is the frequency of the recessive allele (a)?

<p>0.4 (C)</p> Signup and view all the answers

Which microevolutionary mechanism introduces new genetic variation into a population most rapidly?

<p>Migration (Gene Flow) (D)</p> Signup and view all the answers

What is the primary effect of genetic drift on genetic variation within a population?

<p>It reduces genetic variation. (C)</p> Signup and view all the answers

Which of the following is NOT a condition required for a population to be in Hardy-Weinberg equilibrium?

<p>Small population size (A)</p> Signup and view all the answers

What is the significance of 'coalescence' in the context of gene trees?

<p>It indicates the point where lineages of two gene copies merge to a common ancestor. (D)</p> Signup and view all the answers

How does population size influence the effects of genetic drift?

<p>Genetic drift has a stronger effect on smaller populations. (A)</p> Signup and view all the answers

What is the role of chance in evolution according to the principles of genetic drift?

<p>Chance events can cause random changes in allele frequencies. (B)</p> Signup and view all the answers

If a population in Hardy-Weinberg equilibrium experiences a sudden increase in migration, what is the most likely immediate effect on its genetic composition?

<p>An increase in genetic variation due to the introduction of new alleles. (D)</p> Signup and view all the answers

In the context of sequence analysis, which of the following best describes an 'insertion' event?

<p>A base that is present in the sequence, but not in a locally homologous position. (D)</p> Signup and view all the answers

Which of the following is characteristic of an iterative approach to multiple sequence alignment (MSA)?

<p>Alignments are subdivided, distances between subgroups are calculated, and groups are repeatedly merged until a satisfactory tree is obtained. (D)</p> Signup and view all the answers

How do transitions differ from transversions in the context of sequence analysis?

<p>Transitions involve changes between purines (A, G) or between pyrimidines (C, T), while transversions involve changes between a purine and a pyrimidine. (A)</p> Signup and view all the answers

Which of the following scenarios best exemplifies horizontal gene transfer?

<p>The transfer of antibiotic resistance genes between different species of bacteria. (D)</p> Signup and view all the answers

Microevolution is best described as:

<p>Small-scale changes within a population or species over relatively short periods. (B)</p> Signup and view all the answers

Macroevolution is most accurately defined as:

<p>Large-scale evolutionary changes occurring over long periods, leading to new species, genera, or higher taxonomic groups. (D)</p> Signup and view all the answers

Which evolutionary process is synonymous with anagenesis?

<p>Microevolution (D)</p> Signup and view all the answers

Cladogenesis is a fundamental mechanism driving macroevolution, and is best described as:

<p>The process where one ancestral species splits into two or more descendant species. (D)</p> Signup and view all the answers

Which of the following statements accurately distinguishes between anagenesis and cladogenesis?

<p>Anagenesis describes gradual changes within a species over time, while cladogenesis describes the branching of a lineage into two or more descendant lineages. (D)</p> Signup and view all the answers

In the context of phylogenetic trees, what is represented by the 'tips' of the tree?

<p>Observed taxa or species for which data is available. (A)</p> Signup and view all the answers

What critical information does a dated phylogenetic tree provide that is NOT typically found in a cladogram?

<p>The estimated time of divergence between lineages. (A)</p> Signup and view all the answers

Which of the following best describes a polytomy in a phylogenetic tree?

<p>A node from which multiple lineages diverge simultaneously with uncertain relationships. (A)</p> Signup and view all the answers

A group of species is classified as paraphyletic. What does this indicate about their evolutionary relationships?

<p>The group excludes one or more descendants of the most recent common ancestor. (B)</p> Signup and view all the answers

Which of the following scenarios would be considered an example of homoplasy?

<p>The development of wings in bats and insects, serving the same function but arising through independent evolutionary pathways. (D)</p> Signup and view all the answers

When constructing a phylogenetic tree, why are homologous traits favored over analogous traits?

<p>Homologous traits provide evidence of shared ancestry, reflecting evolutionary relationships. (C)</p> Signup and view all the answers

What distinguishes taxic homology from molecular homology?

<p>Taxic homology examines the similarity of physical structures, while molecular homology examines the similarity of molecules such as DNA. (D)</p> Signup and view all the answers

Which of the following scenarios best illustrates the bottleneck effect?

<p>A forest fire drastically reduces the size of a deer population, resulting in a loss of genetic diversity. (C)</p> Signup and view all the answers

A small group of individuals colonizes a remote island. Over time, the new population exhibits a different allele frequency than the original population due to:

<p>The founder effect, where the initial small group does not represent the full genetic diversity of the original population. (B)</p> Signup and view all the answers

How does gene flow influence the genetic makeup of populations?

<p>It equalizes allele frequencies between populations and introduces new alleles. (A)</p> Signup and view all the answers

In the central dogma of molecular biology, what is the correct sequence of information flow?

<p>DNA → RNA → Protein (B)</p> Signup and view all the answers

Alternative splicing is a process that:

<p>Allows different proteins to be produced from a single gene by including or excluding different exons. (A)</p> Signup and view all the answers

What is the significance of the recombination rate (r) between two loci?

<p>It indicates the probability that recombination will occur between those loci during gamete formation. (D)</p> Signup and view all the answers

A researcher is studying a gene and finds that the rate of nonsynonymous mutations significantly exceeds the rate of synonymous mutations. What can they infer?

<p>The gene is undergoing positive selection, with mutations that alter the amino acid sequence being favored. (C)</p> Signup and view all the answers

Which of the following models accounts for unequal base compositions and asymmetrical substitution rates in DNA sequence evolution?

<p>HKY85 (Hasegawa et al. 1985) (B)</p> Signup and view all the answers

Flashcards

Classification (Systematics)

System of grouping species in a hierarchical classification where groups are nested within larger groups.

Taxon

A group of organisms assigned to any level in the Linnean system of classification.

Taxonomy

The discipline concerned with naming taxa.

Nomenclature

Rules to name taxa.

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Evolution

Change in a population over generations.

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Anagenesis

Changes within a single species over time.

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Cladogenesis

Branching of an evolutionary lineage into two or more descendants.

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Homology

A trait present in an ancestor and shared by its descendants.

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Sequence Alignment

Arranging DNA, RNA, or protein sequences to identify regions of similarity; gaps are inserted to account for insertions/deletions.

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OTUs

Operational Taxonomic Units: the 'leaves' or terminal nodes on a phylogenetic tree, representing distinct groups of organisms.

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HTUs (Hypothetical Taxonomical Units)

Nodes representing speciation events; ancestral units.

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Fully Resolved Tree

A phylogenetic tree with branches clearly showing the evolutionary relationships.

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Orthology

Gene copies in different species due to speciation events.

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Insertion (genetics)

Addition of a base in a DNA sequence where it shouldn't be.

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Deletion (genetics)

Removal of a base from a DNA sequence.

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Multiple Sequence Alignment (MSA)

Alignment of multiple sequences to find similarities.

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Transition (genetics)

Changing a purine to another purine or a pyrimidine to another pyrimidine (A to G or C to T).

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Transversion (genetics)

Changing a purine to a pyrimidine or vice versa (A to C/T or G to C/T).

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Microevolution

Small-scale evolutionary changes within a population over short periods.

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Macroevolution

Large-scale evolutionary changes over long periods, leading to new species.

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Allele Frequency

The proportion of gene copies in a population represented by a particular allele.

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Gene Pool

The totality of genes within a population.

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Genotype Frequency

The number of a given genotype (AA, Aa, aa) divided by the total number of organisms.

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Natural Selection

Environmental pressures favoring certain alleles, decreasing genetic variation.

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Mutation

Very slow process that increases genetic variation through nucleotide substitutions.

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Migration (Gene Flow)

Movement of individuals in/out of a population. Fast increases in genetic variation.

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Genetic Drift

Random events alter allele frequencies; faster than natural selection, decreases genetic variation.

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Genetic Drift Effects

Evolution resulting from chance events; random fluctuations larger in smaller populations causing loss of genetic variation.

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Bottleneck Effect

Population reduction to a small size for a short number of generations.

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Founder Effect

A new population started by a small number of individuals.

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Gene Flow

Exchange of genes between two populations.

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Central Dogma

DNA -> RNA -> Protein. Describes the flow of genetic information.

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Gene Recombination

Genetic mixing that combines genes from maternal and paternal lineages.

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Recombination Rate (r)

The probability of recombination occurring between two loci.

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Point Mutation

Changes in a single nucleotide base in the DNA sequence.

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Synonymous Mutation

Mutation where the changed codon codes for the same amino acid.

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Study Notes

Classification and Systematics

  • Classification is a system of grouping species into a hierarchical structure.
  • Groups are nested within larger groups.
  • A Taxon is a group of organisms assigned to any level of the Linnean system.
  • Taxonomy involves the naming of Taxa.
  • Nomenclature includes the rules used when naming taxa.

Evolution Concepts

  • Evolution represents change over time, occurring in populations over generations.
  • Central ideas of evolution include: life having a history, change over time, and shared common ancestors among different species.
  • A phylogenetic tree is a hypothesis of the evolution of taxa.
  • Phylogenetic trees support biological classification.
  • Tips are the things that are observed, typically where names are assigned on a phylogenetic tree.
  • Anagenesis involves changes occurring within a species.
  • Cladogenesis is the branching of a lineage into two or more descendant lineages
  • Cladogenesis needs to include a split
  • Cladogenesis is the branching of evolutionary lineages, while anagenesis is gradual change within a lineage.
  • Cladograms represents topology
  • A cladogram depicts relationships
  • The axis of a cladogram has no meaning
  • A cladogram uses lines that branch off in different directions.
  • A cladogram represents a group of organisms with a last common ancestor, that ends at a clade.
  • Model-based/additive trees show changes between common ancestor organisms.
  • Branch length indicates evolutionary distance.
  • On a cladogram the y axis means something
  • Branches from node to tip have different lengths.
  • Branch lengths represent time change
  • Short branch lengths indicate the organisms are very similar
  • A scale bar indicates distance in the time/amount of change
  • Branch length indicates time of divergence in a dated tree.
  • Polytomy is when information on who are sisters & unrelated is unknown/partially resolved- cannot tell who is separated from each other.
  • Polyphyly is when independent multiple ancestors from different lineages.
  • Monophyly includes clades that has all descendants that share the most recent common ancestor
  • Paraphyly does not include all descendants that share a most recent common ancestor, but does include ones that share certain traits.
  • Homology is when a trait is present in an ancestor and its descendants.
  • Homoplasy is when similarities arise via independent evolution.

Building Trees

  • A homologue is the same organ in different animals under every variety of form and function
  • Taxic homology focuses on the similarity of physical structures or traits across different species.
  • Molecular homology examines the similarity of molecules; in particular, DNA and protein sequences.
  • Sequence alignment is needed
  • Insert gaps to get the same size in alignment
  • Molecular data that can be aligned includes DNA, RNA, and proteins/amino acids.
  • Morphology involves studying the organism.
  • Molecules uses the same gene to get the same sequence alignment
  • OTUs (Operational Taxonomical Units) are terminals
  • HTUs (Hypothetical Taxonomical Units) are nodes and speciation events.
  • Hard polytomy involves simultaneous divergence
  • Soft polytomy represents uncertainty of when divergence occurred.
  • Parsimony only gives one cladogram.
    • The simplest explanation is that the best hypotheses are that is requires the fewest evolutionary changes
    • Uses the lowest number of changes because less explanation is needed
  • Maximum likelihood is the best probability of being true to evolution.
  • Bayesian needs to finds a tree with higher exterior probability made by evolution

Additional probabilities

  • Pr (Data | Tree ) represents Likelihood
  • Likelihood is calculated as before, but integrating the prior probability of all parameters
  • Pr ( Tree) is the probability that our tree is the correct among all trees.
  • Pr ( Data ) is summation of over all trees.

Molecular Data: Homology

  • Orthology: copies of the same gene across different animals.
  • Paralogy: copies that exist within the same organisms/ different families.
  • Paralogy can give incorrect phylogeny.

Molecular Evolution

  • Sequence evolution represents changes in the nucleotides / amino acids at a particular position in that sequence.
  • Substitution involves one base change into a different base at the same position.
  • Insertion means one base appeared in the sequence without a locally homologous position
  • Deletion is when one base disappeared in the sequence.

Multiple Sequence Alignment

  • Progressive alignment calculates distance from sequences that decreases distance by making trees and new alignments.
  • Iterative alignment subdivides alignments based on distance, then calculates the distance between subgroups, and then you merge and repeat until there is a good tree.
  • Transition involves A-G and C-T
  • Transversions include A-C, A-T, G-c, and G-T

Population Genetics

  • Microevolution involves small-scale changes within a population or species over relatively short periods.
  • Microevolution includes changes in allele frequencies, adaptation to local environments, and the emergence of new traits.
  • Macroevolution involves large-scale evolutionary change over long periods.
  • Macroevolution occurs leading to the formation of new species, genera, or higher taxonomic groups.
  • Species, extinction, and life diversity are encompassed by macroevolution
  • Microevolution = anagenesis because it represents gradual changes within a single lineage over time, driven by the same microevolutionary processes that affect population
  • Macroevolution = cladogenesis
  • Cladogenesis, or branching evolution, is a fundamental mechanism driving macroevolutionary patterns and processes
  • Cladogenesis is the process where one ancestral species splits into two or more descendant species, which leads to increased biodiversity and the creation of new lineages on the tree of life.
  • Population genetics is the study of the distribution of alleles in populations and causes of allele frequency changes.
  • Evolution is seen as a change in allele frequencies across generations.
  • Allele frequencies are the proportion of gene copies in a population that are a given allele.
  • Gene pool is the totality of genes of a population
  • Genotype freq: Number of AA, Aa, aa/ total number of organism
  • Allele freq: number of A or a / totl number of genotpes
  • P = freq of dominant allele (one letter)
  • Q = freq of recessive allele (one letter)
  • P2 = freq of homozygous genotype (AA)
  • Q2 = freq of homozygous recessive genotype (aa)
  • Frequency of an allele (one letter) = square root

Microevolutionary mechanisms

  • Natural selection: environment puts pressure on certain alleles and removes genetic variation.
  • Selection happens when individuals with different genotypes survive or make gametes at different rates.
  • Mutation: increases genetic variation VERY SLOWLY in a population
  • Mutation occurs when mistakes during meiosis turn copies of one allele into copies of another, by substitution in nucleotides.
  • Migration: increases genetic variation VERY FAST in a population .
  • Migration occurs when individuals move into or out of the population.
  • Drift involves random events that remove genetic variation.
  • Drift is FASTER than natural selection
  • Drift occurs when blind chance allows gametes with some genotypes to participate in more fertilizations than gametes with other genotypes
  • In Hardy-Weinberg equilibrium (HWE) allele frequencies do not change
  • HWE has no mutation, gene flow, natural selection, as well as random mating, infinite size population, which represents essentially no evolution.
  • Evolution results from chance events (survival, reproduction, inheritance)
  • Chance plays a key role in evolution for example meiosis
  • Random fluctuations in allele frequencies are larger in smaller populations
  • Genetic variation is caused to be lost
  • Populations that are initially identical to become different are caused.
  • An allele can become fixed without natural selection
  • Gene trees helps reconstruct the evolutionary history of genes
  • Coalescence happens when lineages of two gene copies merge.
  • The bottleneck effect is when a population is reduced to a small size for a small number of generations.

Founder effects

  • A new population is started from a small number of individuals.
  • Specific genes are carried into a new population.
  • The Zera finch in the lesser sundas islands was founded by 9 individuals.
  • Gene flow is the exchange of genes between two populations, which mixes of alleles with different populations.
  • Two roles of gene flow are that it equalizes allele frequencies and introduces new alleles into a population.
  • Gene flow results from dispersal by movement of individuals and gametes (migration).

Mutations

  • Central dogma
    • DNA replicates by DNA → DNA
    • DNA transcribes by DNA RNA
    • RNA translates by RNA PROTEIN
  • Genes expression regulation
  • Genes are not expressed all the time or in the same cells
  • Splicing involves Removal of introns
  • Alternative splicing removes exons too
  • Exon shuffling is the interchange of the exon position at the mRNA strand
  • Genetic mixing results from genetic recombination, a process that combines in a gamete a gene copy at one locus from the maternal lineage.
  • The copy is combined with a gene copy at a second locus inherited from the paternal lineage
  • Recombination rate (r) is the probability that recombination occurs between a given pair of loci.
  • When an allele at one locus is found together in a population more often than expected by chance with an allele at a second locus, we say these loci are in linkage disequilibrium.
  • Meiosis happens during diplonema and crossing over
  • Mutations are the ultimate source of variation
  • Point mutations involve changes in single nucleotides
  • Structural mutations – insertion of nucleotides
  • JC69 (Jukes and Cantor 1969) assumes every nucleotide has the same rate of changing into another nucleotide.
  • K80 (Kimura 1980) accounts for different rates for transitions and transversions.
  • HKY85 (Hasegawa et al. 1985) involves unequal base compositions and asymmetrical substitution rates
  • GTR (General reversible model) claims each possible substitutions has its own probability
  • Synonymous mutation is change in nucleotide from original but codes for the sam amino acid
  • Nonsynonymous mutation is change in nucleotides codes for a different amino acid
  • Nonsense mutation uses 3 stop codons
  • Darwinian selection can be positive or negative/purifying
  • Mutation is favored with > 1 because it is positive or Darwinian selection
  • Mutation is not favored with <1 because it is negative or Purifying selection
  • Mutation involves the use of ~1 or =1 Neutral Evolution because Mutations are no a results of selection
  • Can calculate this ratio on "phylogenetic branches” or at specific sites
  • Evolving faster = positive selection
  • Evolving slowly = negative selection
  • Evolving neutral = neutral

Chromosomic structural mutations

  • Deletion involves removal of parts of chromosome
  • Duplication is when part of the chromosome is duplicated
  • Inversion – rearranged chromosome
  • Fission involves splitting chromosomes
  • Fusion is when chromosomes join together

Genetic effects

  • Genetic effects are unrelated to mutations
  • Epistasis happens when the effect on one allele at one locus depends on the allele at a second locus.
  • Linkage disequilibrium can exist between these alleles if there are under the pressure of Natural selection.
  • Epigenetic inheritance affects organisms by altering how genes are expressed, but not their sequences.
  • Maternal effects occur when the genotype or phenotype of the mother directly influences the phenotype or genotype of the offspring
  • Mutation rates is the probability that an offspring carries a new mutation, that is represented by the letter μ
  • Smaller organisms = more mutations
  • The environment puts pressure on organisms which is natural selection
  • Adaptation enhances the survival or reproduction of organisms that bear it and evolves under natural selection.
  • Adaptation has no goal.
  • Natural selection interacts with mutation.
  • Genetic drift interacts with mutation.
  • Natural selection does not cause evolution.
  • Positive selection causes the allele with higher fitness to increase in frequency.

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