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79 Cards in this Set

  • Front
  • Back
What are the "molecules of evolution?"
RNA, DNA, Proteins
Describe Proteins and their functions
-Amino Acid Polymers
-Functions: enzymes, structural, binding, transport, signaling, repair/growth
DNA
-Double-stranded polymer of A, G, T, C
-Phosphodiester bonds & hydrogen bonds
-Expressed phenotypically as RNA/PROTEIN
What are mutations?
-Random changes of DNA that occur during replication/transcription
-May manifest as a phenotypic change
-May alter structure/function

-Heritable mutations are the basis of evolution; inevitable over DEEP TIME
RNA
-Single-stranded polymer of A, U, G, C
-A temporary secondary copy of the "master" DNA
-Used for translation to make protein
Define: GENE
Sequence of nucleotides with a particular function

-Codes for protein or RNA
-Regulates other genes
Central Dogma of Molec. Biology
DNA TRANSCRIPTION CREATES RNA, which is PROCESSED into MATURE RNA with the addition of a POLY A TAIL, a 5’ CAP, and the SPLICING out of INTRONS, This MATURE RNA is then TRANSLATED into a PROTEIN
Genetic Expression is regulated by what?
Describe each.
• Histone Winding – Condensing of DNA over histone proteins
o Methylation: Tightens DNA and makes DNA inaccessible
o Acetylation: Loosens and exposes DNA  Makes DNA accessible

Transcription factors (repressors, activators) and Hormones:
o Bind to some places on DNA and effect expression

Alternative Splicing:
o Introns are cut out and exons are lost or kept  Resulting in different final proteins

Post-Translational Processing:
In the Smooooth ER, protein is further modified  See book examples
What does a genome include?
All the DNA, RNA of an organism

-And rRNA , micro RNA
-Pseudogenes: Genes no longer expressed
-Mobile Genetic Elements: Sets of nucleotides that duplicate and reinsert themselves (like viruses)

--These all affect genome size and complexity
What's a pseudogene?
A gene no longer expressed, but still part of the genome ... (old DNA/RNA)
What are mobile genetic elements (MGEs)?
Sets of nucleotides that duplicate and reinsert themselves (self-replicating) similar to a virus (did they originate from viruses?)
What do mobile genetic elements have to do with evolution?
-May lead to disease, cancer
-May lead to positive or negative adaptations
-Can affect host and neighboring bacteria
-Changes are VERY fast
What are some sources of evolution?
-Ionizing radiation (thymine dimerization)

-environmental chemicals

-DNA replication and transcription errors
What types of mutation are there?
-Point Mutation
-Insertion/Deletion Mutation
-Gene Duplication
-Gene Inversion
-Chromosome Fusion
-Aneuploidy
What are the types of point mutations?
Silent (same AAs)
Mis-Sense (wrong AAs)
Non-Sense (STOP CODON)
Why can insertions and deletions cause a massive change?
Frame shift changes can be extreme!
What determines whether a mutation is beneficial or harmful?
SELECTION
What are CIS-ACTING ELEMENTS?
Series of nucleotides in a gene that affect amount, timing, and location of a gene
What are TRANS-ACTING ELEMENTS?
Exogenous transcription factors (outside the gene)

--GENES ARE AFFECTED BY DISTANT MUTATIONS
Examples of SINGLE AA-CHANGE Diseases?
Albinism
Syndactyly
Muscular Ossification Disease
Examples of SINGLE NUCLEOTIDE CHANGES?
Polydactyly, Progeria
How does location of a mutation matter?
Somatic cells -- Affects only one generation, may or may not be fatal

Germ-Line Cells -- Can affect many, may be heritable
How does variation occur in ASEX reproduction?
-Point Mutations
-Plasmid Transfer
-Parthenogenesis
-Fission
-Budding
How does variation occur during SEX reproduction?
Meiosis -- Crossing over of chromosome tails
Sister chromatids' reassortment
Genetic Polymorphism
Two or more discrete variations of an allele exist within a population
Mendelian Genetic's Polymorphism
Different phenotypes expressed by a single locus on the genotype... One dominant, one recessive
Epistasis
One gene controls expression of another
Incomplete Dominance
Neither allele is expressed completely
Co-Dominance
Both alleles expressed at once
Pleiotropy
One gene has many effects
Polygenic Inheritance
Many genes have just one effect (height, weight)
How does pleiotropy affect evolution?
Most likely constrains evolution... Survival due to changes will be based on cost/benefit ratio
HOW IS PINK BOLLWORM AN EXAMPLE OF PLEIOTROPY
Bt toxin injected into plants, so that pink bollworm insect is killed... HOWEVER, insects that are resistant to Bt toxin are also less resistant to gossypol toxin
HOW IS D. discoideum AN EXAMPLE OF PLEIOTROPY
Only sporulating body passes on genes to next generation... DimA Gene for stalk/spores is present ONLY in cells that can sporulate

No gene = no sporulation
HOW IS CERVICAL VERTEBRA IN MAMMALS PLEIOTROPY?
Gene for seven vertebra is related to metabolic mechanisms... Different number increases likelihood of cancer... Sloth and manatees are exceptions, but they are both very slow!
Example of Polyphenism:
Insect Morphs
-horn length varies greatly due to nutritional cues
-social hierarchy in insects
What is discreet varying of genes?
Polymorphism, Polyphenism
Only tell the difference by looking at the phenotype
What is continuous varying of genes?
Quantitatively measureable
Obvious genetic difference to DNA
Examples of external environmental impacts on phenotype
• Oxygen Availibility – Rate of respiration/ATP Supply
• Nutrition
• Temperature – Rate of reactions
• Stress… Mechanism?
Both hormonal and cellular
• Unwinding of histones affects growth, metabolism, behavior
Examples of internal influences on phenotype
Changes in ECF (morphogens) or ICF (blastulation; the cut into 8 cells creates polarity)
What is phenotypic plasticity?
Phenotype will vary in expression due to environment
Mosquito Control In Italy
-Use of Organophosphates -- Inhibit AChE
(causes ACh to never stop, all ATP wasted)
Mosquitos come back after 3 years
Survivors have ESTER1 gene
3 more years and almost all have resistance
Population Genetics
Study of allele distribution in a population over time
Genotype
all alleles at a specific locus
Gene Pool
All alleles, at all loci, within a population
Hardy Weinberg Theorum
A gene pool remains constant over time unless acted up by some process
Assumptions of Hardy Weinberg Theorum:
Large population (no genetic drift or bottlenecking)
All genotypes survive equally
No net migration of alleles
No mutations

NOTE: NOT TRUE FOR ANY REAL POPULATIONS
What processes prevent HARDY WEINBERG?
Genetic drift affects all populations -- all randomness is lost over time

Natural selection -- environmental factors favors survival of alleles unequally

Migration -- Individuals may enter/leave a population

Mutations -- alleles change randomly over time
Drosophila Experiment
start with 107 drosophila
each population is 8 males, 8 females
each produces 16 progeny
this is repeated 19 generations

Result: genetic drift causes loss of alleles, all become either all red or all white
Genetic Drift
Change in allele frequency due to random chance, wheras selection is not random
Ronald Fisher
Supposed Natural Selection was most important of all evolutionary mechanisms
Sewall Wright
Believed genetic drift was the primary changer of allelic frequencies within a population
Motoo Kimura
Presented molecular data to prove importance of genetic drift
Genetic Bottleneck
Only a fraction of original population can pass on genes to the next generation
Real life example of genetic bottleneck
Northern Elephant Seal
-slaughetered by humans in 1800s
-thought extinct in 1900
-now approx. 120,000

-only 2 phenotypes in mtDNA (from 30)
-gene pool drastically reduced
Founder effect
Loss of genetic variation when a few members leave to form a new colony population
Real life example of founder effect
Afrikaner Population of south africa

-high prevalence of huntinton's disease
Fitness
Differential reproductive success; ability to produce offspring
w = ?
w = measure of fitness
Average fitness?
fitness of a whole population
Relative fitness
fitness of individual
average fitness = 1
then...
relative fitness is either greater or less than 1
highest fitness in a population is 1...
then...
average fitness must be less than one
equation from class
∆p = p x (aA1 / ̅ w ̅ )
delta p = ?
change in allele frequency due to selection
p = ?
frequency of a1 allele
a(A1) = ?
average excess of fitness for A1 allele
( ̅ w ̅ ) = ?
Average fitness of population
If aA1 is positive...
delta p will be positive
If aA1 is negative...
delta p will be negative
Do silent mutations affect fitness?
NO
Do NONSENSE mutations affect fitness?
YES, ALMOST ALWAYS
Lenski Study 1 - Causing evolution through selection
12 identical E. coli lines, only enough food for one day... after 500 generations they are frozen...

Selected for ability to survive no food!
Lenski Study Part 2 - The Big Change
Transformed ancestors with descendant DNA
Sequenced the transformed and untransformed DNA

Mutations had occurred in the BoxG1 gene-- responsible for cell wall integrity

Cell wall unimportant when survival is critical!
Example of Pleiotropy Affecting Selection and vice-versa
Mosquito Ester1 Gene
Confers resistance, but also susceptibility to predators
Ester 4 gene is now taking over
Explain Selection acting on Dominant Vs. Recessive alleles
Phenotype is always selected for...
Heterozygous recessive is more immune to selection, will eventually disappear due to genetic drift
Example of Frequency-Dependent Selection
Purple vs. Yellow Elderflowers -- Bees more likely to visit (And thus propogate) the less popular
Selection on hetero/homozygous genes (balancing selection)
-When the heterozygote is more fit than the homozygotes

-Example: Sickle Cell Anemia... Area with malaria, heterozygosity is better fit
Selection Vs. Drift...
Who will win?
A good allele will not survive if the population is too small due to drift. Genetic drift affects genes of a small population much more than selection!

A good gene must be sustained long enough by a large population for it to actually become common and increase the average fitness!