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79 Cards in this Set
- Front
- Back
What are the "molecules of evolution?"
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RNA, DNA, Proteins
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Describe Proteins and their functions
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-Amino Acid Polymers
-Functions: enzymes, structural, binding, transport, signaling, repair/growth |
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DNA
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-Double-stranded polymer of A, G, T, C
-Phosphodiester bonds & hydrogen bonds -Expressed phenotypically as RNA/PROTEIN |
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What are mutations?
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-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 |
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RNA
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-Single-stranded polymer of A, U, G, C
-A temporary secondary copy of the "master" DNA -Used for translation to make protein |
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Define: GENE
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Sequence of nucleotides with a particular function
-Codes for protein or RNA -Regulates other genes |
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Central Dogma of Molec. Biology
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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
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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 |
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What does a genome include?
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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 |
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What's a pseudogene?
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A gene no longer expressed, but still part of the genome ... (old DNA/RNA)
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What are mobile genetic elements (MGEs)?
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Sets of nucleotides that duplicate and reinsert themselves (self-replicating) similar to a virus (did they originate from viruses?)
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What do mobile genetic elements have to do with evolution?
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-May lead to disease, cancer
-May lead to positive or negative adaptations -Can affect host and neighboring bacteria -Changes are VERY fast |
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What are some sources of evolution?
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-Ionizing radiation (thymine dimerization)
-environmental chemicals -DNA replication and transcription errors |
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What types of mutation are there?
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-Point Mutation
-Insertion/Deletion Mutation -Gene Duplication -Gene Inversion -Chromosome Fusion -Aneuploidy |
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What are the types of point mutations?
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Silent (same AAs)
Mis-Sense (wrong AAs) Non-Sense (STOP CODON) |
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Why can insertions and deletions cause a massive change?
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Frame shift changes can be extreme!
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What determines whether a mutation is beneficial or harmful?
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SELECTION
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What are CIS-ACTING ELEMENTS?
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Series of nucleotides in a gene that affect amount, timing, and location of a gene
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What are TRANS-ACTING ELEMENTS?
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Exogenous transcription factors (outside the gene)
--GENES ARE AFFECTED BY DISTANT MUTATIONS |
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Examples of SINGLE AA-CHANGE Diseases?
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Albinism
Syndactyly Muscular Ossification Disease |
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Examples of SINGLE NUCLEOTIDE CHANGES?
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Polydactyly, Progeria
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How does location of a mutation matter?
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Somatic cells -- Affects only one generation, may or may not be fatal
Germ-Line Cells -- Can affect many, may be heritable |
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How does variation occur in ASEX reproduction?
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-Point Mutations
-Plasmid Transfer -Parthenogenesis -Fission -Budding |
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How does variation occur during SEX reproduction?
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Meiosis -- Crossing over of chromosome tails
Sister chromatids' reassortment |
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Genetic Polymorphism
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Two or more discrete variations of an allele exist within a population
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Mendelian Genetic's Polymorphism
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Different phenotypes expressed by a single locus on the genotype... One dominant, one recessive
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Epistasis
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One gene controls expression of another
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Incomplete Dominance
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Neither allele is expressed completely
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Co-Dominance
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Both alleles expressed at once
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Pleiotropy
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One gene has many effects
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Polygenic Inheritance
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Many genes have just one effect (height, weight)
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How does pleiotropy affect evolution?
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Most likely constrains evolution... Survival due to changes will be based on cost/benefit ratio
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HOW IS PINK BOLLWORM AN EXAMPLE OF PLEIOTROPY
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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
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HOW IS D. discoideum AN EXAMPLE OF PLEIOTROPY
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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 |
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HOW IS CERVICAL VERTEBRA IN MAMMALS PLEIOTROPY?
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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!
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Example of Polyphenism:
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Insect Morphs
-horn length varies greatly due to nutritional cues -social hierarchy in insects |
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What is discreet varying of genes?
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Polymorphism, Polyphenism
Only tell the difference by looking at the phenotype |
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What is continuous varying of genes?
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Quantitatively measureable
Obvious genetic difference to DNA |
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Examples of external environmental impacts on phenotype
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• 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 |
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Examples of internal influences on phenotype
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Changes in ECF (morphogens) or ICF (blastulation; the cut into 8 cells creates polarity)
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What is phenotypic plasticity?
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Phenotype will vary in expression due to environment
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Mosquito Control In Italy
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-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 |
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Population Genetics
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Study of allele distribution in a population over time
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Genotype
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all alleles at a specific locus
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Gene Pool
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All alleles, at all loci, within a population
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Hardy Weinberg Theorum
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A gene pool remains constant over time unless acted up by some process
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Assumptions of Hardy Weinberg Theorum:
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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 |
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What processes prevent HARDY WEINBERG?
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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 |
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Drosophila Experiment
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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 |
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Genetic Drift
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Change in allele frequency due to random chance, wheras selection is not random
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Ronald Fisher
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Supposed Natural Selection was most important of all evolutionary mechanisms
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Sewall Wright
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Believed genetic drift was the primary changer of allelic frequencies within a population
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Motoo Kimura
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Presented molecular data to prove importance of genetic drift
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Genetic Bottleneck
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Only a fraction of original population can pass on genes to the next generation
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Real life example of genetic bottleneck
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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 |
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Founder effect
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Loss of genetic variation when a few members leave to form a new colony population
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Real life example of founder effect
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Afrikaner Population of south africa
-high prevalence of huntinton's disease |
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Fitness
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Differential reproductive success; ability to produce offspring
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w = ?
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w = measure of fitness
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Average fitness?
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fitness of a whole population
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Relative fitness
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fitness of individual
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average fitness = 1
then... |
relative fitness is either greater or less than 1
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highest fitness in a population is 1...
then... |
average fitness must be less than one
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equation from class
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∆p = p x (aA1 / ̅ w ̅ )
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delta p = ?
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change in allele frequency due to selection
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p = ?
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frequency of a1 allele
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a(A1) = ?
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average excess of fitness for A1 allele
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( ̅ w ̅ ) = ?
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Average fitness of population
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If aA1 is positive...
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delta p will be positive
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If aA1 is negative...
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delta p will be negative
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Do silent mutations affect fitness?
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NO
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Do NONSENSE mutations affect fitness?
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YES, ALMOST ALWAYS
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Lenski Study 1 - Causing evolution through selection
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12 identical E. coli lines, only enough food for one day... after 500 generations they are frozen...
Selected for ability to survive no food! |
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Lenski Study Part 2 - The Big Change
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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! |
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Example of Pleiotropy Affecting Selection and vice-versa
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Mosquito Ester1 Gene
Confers resistance, but also susceptibility to predators Ester 4 gene is now taking over |
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Explain Selection acting on Dominant Vs. Recessive alleles
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Phenotype is always selected for...
Heterozygous recessive is more immune to selection, will eventually disappear due to genetic drift |
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Example of Frequency-Dependent Selection
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Purple vs. Yellow Elderflowers -- Bees more likely to visit (And thus propogate) the less popular
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Selection on hetero/homozygous genes (balancing selection)
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-When the heterozygote is more fit than the homozygotes
-Example: Sickle Cell Anemia... Area with malaria, heterozygosity is better fit |
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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! |