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hardy-weinberg principle
explains how allele and genotype frequencies remain constant throughout generations without evolutionary influences
#individuals * ploidy
equation for total alleles in population
f[bb] + (f[Bb]/2)
allele frequency for b
f[BB] + (f[Bb]/2)
allele frequency for B
p + q = 1
allele frequency equation
p² + 2pq + q² = 1
H-W equation
genotype frequencies
what does p², 2pq, and q² represent
large population, random mating, no mutation, no migration, and no selection
needed for H-W equilibrium
large
hardy-weinberg assumption: the population is
allele frequencies
the population must be large to prevent random changes in…
genetic drift
random sampling effect that alters allele frequency
small
genetic drift is most powerful in…populations
evolution
change in allele frequencies from one generation the the next
hardy-weinberg equilibrium
if allele frequencies do not change through time, the population is in
hardy weinberg equilibrium
if allele frequencies change through time, the population is in
drift
mechanism in which imperfect sampling causes some alleles to be underrepresented relative to others
random sampling error
genetic drift results from
higher
sampling error is…with smaller samples
small populations
drift reduces genetic variation in…
meiosis
primary cause of random allele sampling
diverge
as a result of genetic drift, separate populations…
bottleneck
sudden reduction in population size due to some event
northern elephant seals and cheetas
examples of bottlenecks
bottleneck
rare alleles are likely to be lost in small populations or during a
founder effect
small group breaks off and forms their own population
mormons
example of founder effect
germ-line
only BLANK mutations are heritable
somatic
mutations that affect cells in the body of an organism that occur after conception
germ-line mutations
affects gametes; heritable and relevant to evolution
seperate germ line
in single-celled organisms, there is no…
single-celled organisms and totipotency in plants
exceptions to only germ-line mutations relevant to evolution
totipotency
term for a single cell dividing and growing, then differentiating into a complete, fertile adult plant
mutation, independent assortment, recombination, hybridization, horizontal gene transfer
sources of genetic variation
mutation
cause of genetic variation involving generation of alleles
point, insertion, deletion, duplication, inversion, chromosome fusion, and genome duplication
types of mutation
point
mutation where one base pair is replaced
insertion
mutation where an extra base pair is added
deletion
mutation where a section of the genome is lost
gene duplication
mutation where segments of the genome are copied
inversion
mutation in which a section of the genome is flipped backwards
chromosome fusion
mutation in which two chromosomes join together
denovo
mutations in offspring that were not in the parents
trio and sib studies
sequences genomes of mother, father, and one or more biological offspring
multi-generation pedigrees
sequences genomes to determine which generation and which parent’s germline did the mutation originate in
paternal age
mutation rate is strongly dependent on…
74.5
estimate of de Novo SNVs per generation
16-17
mutation count roughly doubles every…years of father’s age at conception
insertions and deletions
indel is a term for
indels
BLANK can cause major consequences in protein genes unless in multiples of three and in frame
transposable elements
can insert copies of themselves or jump elsewhere in the genome
transposition
moves transposable elements from one place to another
Alu elements
short, repetitive DNA sequences that make up >10% of the human genome; they can insert themselves within genes
Alu
elements implicated in many human diseases
no
do all, or even most, genes exist as a single copy in the genome
dynamic entities
genomes are
duplication, loss
genes are constantly undergoing…and…
redundancy and divergence
two fates of duplicate genes
divergence
fate of duplicated gene in which it is free to accumulate mutations and evolve new functions
neofunctionalization
duplicate gene takes on an entirely new function
subfunctionalization
the duplicate takes on a specialized role similar and complementary to the ancestral function (og function splits)
loss
most common fate of duplicated genes
families
most genes are part of larger gene…as the result of gene duplications
terpenoids
directly related of aromatic features of wine
ploidy
number of copies of unique chromosomes in a cell
speciation
polyploidy can result in instantaneous sympatric
sterile triploid progeny
diploid x tetraploid results in…
genome duplications
gene duplications on a grand scale
15
what percentage of all speciation in flowering plants involve WGDs
ancient polyploids
all flowering plants are…
genome size
total DNA in haploid set of chromosomes; based on number of base pairs
exons
coding DNA
does not
most of the genome…encode genes
mobile genetic elements
can move or copy themselves elsewhere
mobile genetic elements and ploidy
variation in genome size and complexity is due to
complexity
based on how DNA is used; how DNA is regulated and combined
recombination
homologous chromosomes swamp segments during prophase 1 in meiosis
prophase I
when does recombination occur
Mendel’s second law
law explaining independent assortment of chromosomes during meiosis creates gametes with a mixture of maternal and paternal chromosomes
genetic linkage
the physical proximity of alleles at different loci
less
loci that are physically close are…likely to be separated by recombination
non-random
genetic linkage results in a…distribution of allele combinations
linkage equilibrium
alleles at one locus segregate randomly with respect to other alleles at the other (frequency is the same)
linkage disequilibrium
alleles at different loci are nonrandomly associated; segregating together more often than expected by chance
horizontal gene transfer
transfer of genetic material between different species
bacteria
HGT is common in
fitness
reproductive success of an individual with a particular phenotype
survival to reproductive age, mating success, and fecundity
components of fitness
fecundity
number of offspring produced
relative fitness
fitness of a genotype standardized by comparison to other genotypes
average excess fitness
difference in fitness between average fitness of individuals with a given allele vs, the average fitness of the population as a whole
Δp = p0 x (a/w)
equation that describes the change in allele frequency due to selection
Δp
change in allele frequency
p0
starting frequency of allele
a
average excess fitness of allele
w
average fitness of the entire population
present
p0 is positive if the allele is
exists
w is positive if the population
decreases
if Δp is negative the allele…in frequency
a
what determines whether the selection increases or decreases the frequency of the allele
starting frequency
effectiveness of selection is directly proportional to the…