Shared Flashcard Set

Details

Population Genetics: Midterm 1
University of Guelph BIOL*3020
126
Biology
Undergraduate 3
10/22/2016

Additional Biology Flashcards

 


 

Cards

Term
φ
Definition
A statistic that tests for recombination. Coalescent history of nucleotides close to each other should be more similar than those further apart, on average, if recombination occurs.
Term
Absolute fitness (W, λ, r)
Definition
A parameter that predicts or predicts in part the increase in growth in numbers of a genotype. Predicts in part means that in some situations one cannot predict exactly, such as the number of offspring. Genotype-specific growth rate that predicts the absolute number of individuals of a given genotype in a population over time. Assume that it remains constant. Includes growth rate and finite rate of increase.
Term
Ancestral population phase
Definition
A phase of demographic expansion and spatial expansion.
Term
anon1A3
Definition
A locus in Drosophila melanogaster and D. simulans with a π value of 0.0044 and 0.0062, respectively.
Term
Antibiotics
Definition
One of the most important medical inventions in human history. Its use in medicine and agriculture is increasing spread of resistant pathogenic bacteria. May be fond in wastewater in low concentrations. Found in the environment at high concentrations around 1 - 2 μg/L. It creates some of the strongest selection pressures in nature, with high selection coefficients.
Term
Average fitness (w-bar, λ-bar)
Definition
The frequency-weighted sum of the relative fitness values of each genotype in the population. Changes as frequencies of genotypes change. If a genotype has an absolute fitness greater than the average fitness, it will increase in frequency.
Term
Average relative fitness
Definition

A frequency-weighted average, depending on the sum of the product of frequency and relative fitness for each genotype.

ptwA + qtwB

Term
Bayesian approach
Definition
Based on the idea that changes at the DNA sequence level occur with different probabilities. A true estimator because it seeks to infer the pattern of shared common ancestry.
Term
Biofilm
Definition
A layer of bacteria which may live on hydrothermal hot springs, and freshwater rivers.
Term
Birth-death event
Definition
In the Moran model, a point in time when an individual reproduces by mitosis, and then another individual dies. Population size is unchanged. Genotype frequency changes by 0, +1, or -1. The probability of each of these possibilities adds up to 1. The magnitude in genotype frequency change is greater in a smaller population.
Term
Borrelia burgdorferi
Definition
The bacteria which causes Lyme disease. It is transmitted by ticks of the genus Ixodes. It is not transmitted from adult tick to its eggs; the tick must acquire the bacteria from vertebrate hosts, and can transmit it to subsequent hosts in its lifetime. It was introduced to North America from Europe, first arriving on the Eastern coast, and expanded westward into its current range. In the last 50 years populations have expanded, leading to spread of Lyme disease.
Term
Boss
Definition
A locus in Drosophila melanogaster and D. simulans with a π value of 0.0170 and 0.510, respectively.
Term
Caenorhabditis elegans
Definition
Mates by self-fertilization.
Term
Caenorhabditis remanei
Definition
Mates by outcrossing.
Term
CAUL
Definition
A locus in Arabidopsis thaliana and A. lyrata ssp. Petraea with a π value of 0.0042 and 0.0135, respectively.
Term
Cetirizine
Definition
An H1-receptor antagonist. Range of effluent is 1,300 - 1,400 μg/L.
Term
Charles Darwin
Definition
In 1859, stated the process of natural selection can be summarized as three basic observations about populations: all species have more offspring than could possibly survive and reproduce, individual organisms vary in phenotypes that influence their ability to survive and reproduce, and within each generation, individuals possessing phenotypes that confer greater survival and reproduction will contribute more to offspring to the next generation.
Term
Ciprofloxacin
Definition
An antibiotic-fluoroquinolone. Range of effluent is 28,000 - 31,000 μg/L.
Term
Citalopran
Definition
A serotonin reuptake inhibitor. Range of effluent is 770 - 840 μg/L.
Term
Coalescent event
Definition

Coalescence

"Grow together"

"Fuse"

The point in time where a pair of lineages or genealogies trace back in time to a single common ancestral lineage.

Term
Coalescent theory
Definition
Models that look at patterns among individuals available to us in the present, and try to reconstruct versions of events such as inbreeding, gene flow, or natural selection in the past that could have led to the individuals in the present. Tries to trace back through time to coalescent events.
Term
COII
Definition
A locus in Caenorhabditis elegans and C. remanei with a π value of 0.0102, and 0.0228, respectively.
Term
Compartmentalization
Definition
Occurs when FST is significantly greater than zero.
Term
Contact model
Definition
An area is divided into a grid of discrete cells, and invidiauls can potentially occupy these cells, being of different genotypes. If a cell is empty, the rate at which it is filled is proportional to the rate of births among its nearest neighbors. If there are no neighbors, there is no likelihood of an individual occupying that point. An individual in an occupied cell dies at a particular rate. Gives rise to spatial patterns in genotypes; there are regions in the area where there is only one genotype.
Term
Current number (N)
Definition
The total number of individuals in a population.
Term
Deme
Definition
A local, small area within a larger population. When there are two demes with two genotypes, time for a genotype to get in the same deme is (1/2m), where m is the probability an individual migrates.
Term
Demographic expansion
Definition
Historical expansion from an ancestral population of small size. With no geographic structure, the population expands. Phases include expansion phase and ancestral population phase.
Term
Deterministic model
Definition
Assumes population size is infinite. With an infinite population size, there is no genetic drift. In reality all populations have a finite size.
Term
dN
Definition
Rate of nonsynonymous substitution at nonsynonymous sites.
Term
dN/dS
Definition
A measure of the type of selection occurring on a protein. The ratio of nonsynonymous substitution and synonymous substitution. If it equals 1, no selection is occurring. Calculated by estimating the coalescent tree for individuals, and estimating the ancestral sequence of the tree. Changes that have happened are figured out by comparing individuals with the ancestral sequence.
Term
dS
Definition
Rate of synonymous substitution at synonymous sites.
Term
Empirical coalescent tree
Definition
An estimate backwards in time, using empirical data.
Term
Enoxacin
Definition
An antibiotic-fluorquinolone. Range of effluent is 150 - 300 μg/L.
Term
Enrofloxacin
Definition
An antibiotic-fluoroquinolone for veterinary use. Range of effluent is 780 - 900 μg/L.
Term
ETR1
Definition
A locus in Arabidopsis thaliana and A. lyrata ssp. Petraea with a π value of 0.0192 and 0.0276, respectively.
Term
Eukaryotes
Definition
Diploid. Population genetics uses different tools and concepts than in prokaryotes.
Term
Euler's number (e)
Definition
Equal to about 2.71.
Term
Expansion phase (te)
Definition
A phase of demographic expansion.
Term
Expected number of segregating sites (E(S))
Definition
The expected number of mutations on a tree. In the infinite sites model, each mutation occurs at a unique site.
Term
FST
Definition

A statistical measure of population structure. A measure of the variation in genotype frequency among subpopulations. Measures the extension of population structure at different levels: subpopulations, individuals within subpopulations, and within individuals. The lower the value, the less strong the differentiation between populations, and less population structure. The greater the value, the more there is local adaptation.

0 - 0.05 = Small divergence among subpopulations

0.05 - 0.15 = Moderate divergence among subpopulations

0.15 - 0.25 = Large divergence among subpopulations

> 0.25 = Very large divergence among subpopulations

Term
Finite rate of increase (λ)
Definition
Absolute fitness in models where time is discrete. A multiplier that represents the net difference between the number of individuals lost from the population due to death and the number of new individuals recruited to the population by reproduction each generation. Units are per generation or time step. If the number of births and deaths are equal, then it is equal to 1, and population size does nto change. If it is greater than 1, population grows. If it is lesser than 1, population shrinks.
Term
Fitness
Definition
Needed in order for bacteria to evolve resistance to high concentrations of antibiotic.
Term
gag
Definition
A gene in HIV. An internal structure protein.
Term
Gene copy
Definition

Allele copy

A replicated DNA sequence that has passed from ancestor to a descendant; used synonymously with the term lineage.

Term
Genealogy
Definition
The record of ancestor-descendant relationships for a family or locus.
Term
Genetic composition
Definition
Typically characterized by the frequency of genotypes. Informs us about processes in the population, provided that there is a model, conceptual or theoretical, that links the two.
Term
Genotype
Definition
A unique sequence of DNA encompassing all or part of a species' genome.
Term
glp-1
Definition
A locus in Caenorhabditis elegans and C. remanei with a π value of 0.0009 and 0.0188, respectively.
Term
Growth rate (r)
Definition
Continuous growth rate. Absolute fitness in models where time is continuous. Units are h-1 or min-1.
Term
Hallatschek et al (2007)
Definition
An example of random genetic drift. The centre of a petri dish was inoculated with approximately 106 E. coli individuals with two genotypes, green and red, at a 1:1 ratio. The population expanded outwards across the face of the dish, and even though the central region was well-mixed, discrete areas of genotypes were observed near the edges. At the periphery of expansion there are a small number of individuals reproducing to fill large regions of the dish.
Term
Haplotype frequency distribution
Definition

Site frequency spectrum

The distribution of the frequency of each sequence haplotype in a population, assuming that individuals are haploid or homozygous. Shows the proportion of sequences in a population that represent each of the observed sequence alleles.

Term
Height of a coalescent tree
Definition
The total time from the present to the point in the past where all k sampled lineages find their MRCA. The sum of the coalescence waiting times as coalescent events reduce the number of lineages from k, to k-1, to k-2, down to 1.
Term
HIV
Definition
This virus will adapt to different parts of an organism's body. Mechanisms for local adaptations within an individual may be due to local differentiation of cells involved in immune response, or in antiviral drug levels.
Term
Housekeeping genes
Definition
Genes that are important in basic functions. Have a slower rate of evolution.
Term
Inbreeding
Definition
A process which determines the frequencies of genotypes within the population. Relevant to diploids.
Term
Ixodes pacificus
Definition
A tick which lives on the west coast of North America. Transmits Borrelia burgdorferi.
Term
Ixodes scapularis
Definition

Blacklegged tick

The tick which transmits Lyme disease to humans. Has a three-stage life cycle which takes at least two years to complete, and requires feeding on one vertebrate host per stage. Larvae and nymphs feed on small mammals or birds. Adults feed almost exclusively on white-tailed deer. Lives on the east coast of North America. Borrelia burgdorferi is not transmitted from adult ticks to eggs; it is acquired from hosts.

Term
Limited dispersal/migration
Definition
A process which determines the frequencies of genotypes within the population. Can lead to pronounced genetic drift, even when population size is large.
Term
Lineage
Definition
A line of descent or ancestry for a homologous DNA sequence or a locus, regardless of whether or not copies of the locus are identical or different.
Term
Lomefloxacin
Definition
An antibiotic-fluoroquinolone. Range of effluent is 150 - 300 μg/L.
Term
Lyme disease
Definition

Lyme borreliosis

A disease caused by the bacteria Borrelia burgdorferi. The bacteria is carried on ticks in the Ixodes genus. Affects various vertebrate species. The most common vector-borne disease in North America. First diagnosed in Lyme, Connecticut in 1976, and incidence and geographic extent in USA has incrased dramatically since that time.

Term
Losartan
Definition
An angiotensin II receptor antagonist. Range of effluent is 2,400 - 2,500 μg/L.
Term
Mantel's test
Definition
Correlates genetic and geographic distance. If there is population structure, then we expect more genetically dissimilar individuals to be geographically more distant from each other. Differs from ordinary correlation because it accounts for non-indepdendence between data points.
Term
Maximum likelihood (ML)
Definition
Based on the idea that changes at the DNA sequence level occur with different probabilities. A true estimator because it seeks to infer the pattern of shared common ancestry.
Term
Mega petri dish
Definition
A large petri dish with bands of different concentrations of antibiotic. Used to show how bacteria evolve resistance quickly.
Term
Metoprolol
Definition
A β1-adrenoreceptor antagonist. Range of effluent is 800 - 950 μg/L.
Term
Migration
Definition
Causes genotypes to become more similar.
Term
Migration, N < tdiv
Definition
Individuals in different demes can coalesce with each other before coalescing with individuals from the same deme.
Term
Migration, N > tdiv
Definition
Individuals in different demes can coalesce with each other before coalescign with individuals from the same deme.
Term
Minimal inhibitory concentration (MIC)
Definition
The lowest concentration of antibiotic yielding no visible growth of a genotype. Selection above the MIC of a strain selects even mutations with very high costs; susceptible bacteria are eliminated. Selection below the MIC of a strain causes susceptible bacteria to grow slower, but can select for resistant mutants de novo from a susceptible population, and fitness costs of the selected mutations will be considerably lower.
Term
Minimal selection concentration (MSC)
Definition
The concentration of antibiotic where the susceptible and resistant genotypes have the same fitness and growth rate. Fitness cost of resistance is balanced by the antibiotic-conferred selection for the resistant mutant. Coincides with a point where the selection coefficient is zero; no selection occurs at this point. A larger MSC is good because it means a larger concentration of antibiotic is needed before resistant strain has higher relative fitness than the susceptible strain.
Term
Mismatch
Definition
The number of pairwise differences.
Term
Mismatch distribution
Definition
Distribution of pairwise differences. The frequency distribution of the number of nucleotide sites that differ between all unique pairs of DNA sequences in a sample from a single species. Can be used to infer the history of the population that gave rise to a sample of DNA sequence. Invovles calculating the number of nucleotide differences between each pair of individuals in a sample, then generating a histogram of these pairwise differences. On the x-axis is the mismatch, and on the y-axis is the frequency that a particular number of mismatches occurs in a sample. A "goodness-of-fit"-like test done to test whether the observed distribution is different from an expected distribution under a model. One can exclude a model of demographic history if it fits the distribution poorly.
Term
Modern synthesis
Definition

Neo-Darwinian synthesis

Once particulate inheritance was understood, genetics was unified with the principle of natural selection. Develops expectations for the genetic changes that are caused by natural selection.

Term
Moran model
Definition
Assumes that overall birth and death rates of a population are equal, so a population is stable in size. One birth-death event occurs every instantaneous point in time. Average magnitude of change in genotype frequency per birth-death event is a negative function of population size. Can be used for random genetic drift, or selection. With no selection, the average magnitude of change is an inverse function of population size. With a smaller population there are greater fluctuations, and selection has less effect.
Term
Moran's I
Definition
Similar to Mantel's test and test for special autocorrelation in genetic variation. Seeks to determine if there is a relationship between geographic distance and genetic distance of individuals. A positive number indicates more alikeness, and negative indicates less alikeness.
Term
Most recent common ancestor (MRCA)
Definition
The first common ancestor of all lineages or gene copies at some time in the past for a sample of lineages taken in the present.
Term
Multilocus sequence typing scheme (MSLT)
Definition
Analysis of multiple loci can buffer against potentially skewed evolutionary points. Can be used to track housekeeping genes.
Term
Multiple sequence alignment
Definition
Made when determining DNA sequences. The homologous nucleotide sites for each sequence are lined up in the same columns. Measures used to characterize the pattern of DNA polymorphisms include number of segregating sites and nucleotide diversity.
Term
Mutation
Definition
A process which determines the frequencies of genotypes within the population. Needed in order for bacteria to evolve resistance to high concentrations of antibiotic.
Term
Mutation rate (u)
Definition
The mutation rate for the sequenced region(s) of the genome. A high value would be arond 10-6, or one in a million.
Term
Naïve approach
Definition
There is a correlation between genetic and geographic distances.
Term
Neighbor joining tree (NJ)
Definition
A distance-based approach. Seeks to find the tree that minimizes the number of DNA sequence changes in a tree.
Term
No migration, N < tdiv
Definition
Individuals within the same deme must coalesce with each other before coalescing with individuals from other demes.
Term
No migration, N> tdiv
Definition
Individuals within the same deme can coalesce with individuals from other demes before coalescing with individuals from the same deme.
Term
Nonsynonymous substitution
Definition
A change in DNA sequence that changes protein sequence, and therefore may have effects on phenotype and fitness, if there is selection.
Term
Norfloxacin
Definition
An antibiotic-fluoroquinolone. Range of effluent is 150 - 300 μg/L.
Term
Nucleotide diversity (π)
Definition
Average pairwise differences. A measure used to characterize the pattern of DNA polymorphisms in a multiple sequence alignment. Equivalent to the heterozygosity measured using alleles represented by DNA sequences, assuming random mating and the infinite sites model of mutation. Averages the number of nucleotide site differences found when each unique pair of DNA sequences in a sample is compared. Sensitive to the frequency of each DNA sequence allele in a sample.
Term
Number of mutations (S)
Definition
The number of mutations on a coalescent tree.
Term
Number of segregating sites (S)
Definition
A measure used to characterize the pattern of DNA polymophisms in a multiple sequence alignment. A segregating site is any of the L nucleotide sites that maintain two or more nucleotides within the population.
Term
Ofloxacin
Definition
An antibiotic-fluoroquinolone. Range of effluent is 150 - 160 μg/L.
Term
ospC
Definition
A gene in Borrelia burgdorferi which encodes an outer surface protein. It can be used for strain typing of the bacteria.
Term
Phylogenetic tree
Definition
Not known to be the truth; it is only a best approximation.
Term
Phylogeography
Definition
Genetic variation over a geographic area. Understanding historical patterns of movement and colonization of a species. Explains current distributions.
Term
pol
Definition
A gene in HIV. A reverse transcription protein for reproduction.
Term
Population
Definition
A group of individuals of the same species that occupy a defined area.
Term
Population genetics
Definition
The study of the genetic composition of a population.
Term
Population structure
Definition
The non-random distribution of genotypes geographically due to limited dispersal or local adaptation. The population has differetn geographic groups with different genes.
Term
Positive selection
Definition
A protein is undergoing adaptive evolution. Selection for different functional properties of a protein relative to an ancestral protein. Only changes at nonsynonymous sites can generate adaptive protein sequences. dN is greater than dS, so dN/dS is greater than 1.
Term
Principal component analysis (PCA)
Definition
Allows for visualization of high dimensional data on a lower dimensional surface. Finds axes that explain from the most to the least amount of variation in a dataset. Useful because it can qualitatively indicate whether the genotypes of individuals from the same deme cluster together on a 2D surface, which would indicate population structure. Can condense 500,000 dimensions into 2 dimensions. Finds a plane which cuts through the most variation, and projects all points onto this plane.
Term
Prokaryotes
Definition
Population genetics uses different tools and concepts than in eukaryotes. Generally reproduce asexually.
Term
Purifying selection
Definition
Selection that maintains existing functional properties of a protein. Nonsynonymous substitutions are deleterious. dN/dS is lesser than 1.
Term
Purine
Definition
Adenine and guanine.
Term
Pyrimidine
Definition
Cytosine and thymine.
Term
Random genetic drift
Definition
A proess which determines the frequencies of genotypes within the population. No forces is causign genotype frequencies to change, but it changes anyway. Changes in genotype frequencies are due to random sampling in finite populations. Eventually one genotype consists of 100% of the population. All populations experience random genetic drift. Extent of drift is greater in smaller populations, and genotype fixes faster. Larger populations are more resistant to declines in frequency of a beneficial genotype.
Term
Ranitidin
Definition
An H2-receptor antagonist. Range of effluent is 90 - 160 μg/L.
Term
RbcL
Definition
A locus in Arabidopsis thaliana and A. lyrata ssp. Petraea with a π value of 0.0012 and 0.0013, respectively.
Term
Recombination
Definition
A process which determines the frequencies of genotypes within the population. Genetic material from a genotype is incorporated into another genotype. Two genomes interchange parts, and form a new lineage. The upstream and downstream regions have different coalescent histories.
Term
Relative fitness (w, m)
Definition

Darwinian fitness

Malthusian fitness

Absolute fitness of one genotype, relative to the absolute fitness of a standard or reference genotype, often the genotype with the highest absolute value. A more general term, unitless and useful for comparisons aross species. You do not need to known the population growth rates of each genotype; you can find the outcome of the growth process in terms of relative frequencies. If it equals one, the two genotypes have identical growth rates and the proportion of each genotype remains constant. If it is greater than one, genotype B will grow faster than A, and will represent a larger proportion of the population over time. Symbolized as w in models were time is discrete, and m in models where time is continuous. It is sometimes easier to measure experimentally than absolute fitness. Use is universal. 

w = λB / λA

Term
Relative frequency (p)
Definition
The frequency of a genotype in a population. May be used for populations of any size.
Term
Reticulate gene network
Definition
The ancestral recombination graph. A theoretical model of the ancestral history of a population that includes recombination. Parallel edges indicate possible points of recombination in the past.
Term
Sample configuration
Definition
The number is drawn from the number of demes in teh population.
Term
Segregating site
Definition
A nucleotide site that is variable in a sample.
Term
Selection
Definition
A process which determines the frequencies of genotypes within the population.
Term
Selection coefficient (s)
Definition
The proportional increase or decrease in fitness relative to the standard/reference genotype. Magnitude ranges from 0 to 1. In nature values are generally between 0.001 and 0.01. Larger numbers occur with high antibiotic selection. May be directly estimated, such as in competition experiments. Use is universal. Fitness is unitless, and can be compared across species.
Term
Spatial expansion
Definition
Spatial expansion into multiple demes. Phases include spatial expansion phase and ancestral population phase. Can lead to pronounced genetic drift, even when population size is large. There are initially a small number of individuals in a local area at the front of expansion. By chance, one of the genotypes can reach high frequency in this small area due to drift. Combined with subsequent growth into the unoccupied region, this leads to a large region containing only a single genotype.
Term
Spatial expansion phase (td)
Definition
A phase of spatial expansion.
Term
Sub-MIC selective window
Definition
Concentrations below the MIC, where there can be selection.
Term
Synonymous substitution
Definition
A change in DNA sequence that does not change a protein sequence, and therefore does not change the phenotype and likely does not have fitness effects.
Term
Time to reach frequency of 0.5 (T50)
Definition
A proportional negaitve function of the selection coefficient.
Term
tra-2
Definition
A locus in Caenorhabditis elegans and C. remanei with a π value of 0 and 0.0112, respectively.
Term
Traditional selective window
Definition
The range of antibiotic concentration above the MIC, previously thought to be the only concentration where there can be selection for the resistant strain.
Term
transformer
Definition
A locus in Drosophila melanogaster and D. simulans with a π value of 0.0051 and 0.252, respectively.
Term
Transition
Definition
A change from a purine to a purine, or from a pyrimidine to a pyrimidine. More common than transversions.
Term
Transversion
Definition
A change from a purine to a pyrimidine, or from a pyrimidine to a purine. Less common than transitions. Lead to changes in amino acids, thus protein sequence, thus phenotype, thus sequence. On average they are deleterious.
Term
Waiting time
Definition
The mean or expected time back in the past until a single coalescence event in a sample of lineages.
Supporting users have an ad free experience!