Powered By Blogger

Monday, July 24, 2017

BIOB51 UTSC Lecture Notes Mutation and variation - Evolutionary Biology

BIOB51 Lec 07 Mutation and Variation
1.   Understanding check: how do traits evolve?
-       Understanding check hypothetical steps in the origin of avian flight
-       Bipedal terrestrial: simple feathers thermoregulation & display
-       Powered flight: modern feathers allow efficient gliding and true flight
-       F1 generation increases diversity, on average, you look like your parents, but there is a little bit of variation
-       The distribution will move upwards when we look at the individuals that survive
-       This change in trait value over generations required 3 things: phenotypic variation, selection, genes (heritable traits)
-       Not all new traits will lead to evolutionary change
2.   Sources of phenotypic variation
Text Box: Natural selection acts on the phenotype
Genetic
- Difference in a gene that is responsible for our ability to taste bitterness in food
- TAS2R38 gene = bitter taste reception
- AVI and PAV effect the perception of bitterness in food
- AVIAVI = non tasters
- PAVPAV = tasters
- AVI AVI eats more veggies, PAVPAV avoids more toxins
-

-       Expressions of PAV allele directly related to bitterness ratings in heterozygotes
-       Can this type of variation evolve?
o   Genetic variation in type of encoded proteins, amount, timing or location of expression
Environmental
-       Monozygotic twins
o   External influence on amount of protein produced, fxn of proteins
-       Inducible defenses in Daphnia clones
o   Growing in presence predators: they develop barbed spines on their backs, or spine on head capsule or tail
o   Not expected to show an evolutionary change
o   All Daphnia are able to induce defenses but the degree of which might change
-       Can this type of variation evolve? No
o   No genetic differences, can’t pass off these changes
Genotype by Environmental Interaction
-       Phenotypic plasticity: development of different phenotypes in different environments
o   Getting sunburned
-       Ex. tobacco hornworms in textbook
o   Typical vs black caterpillar
o   Black one exposed to heat shock and will turn green
o   Others are black and are insensitive to that change
o   This variation is due to differences in their genetic make up
o   Effects how they respond to temperature
o   Plasticity is evolving here
-       Can this type of variation evolve? Yes
o   There is a genetic variation that effects how you respond to the environment
o   Extent to which different genotypes show different degrees of phenotypic plasticity (development of different phenotypes in different environments)

3.   Genetic variation: mutation and new alleles
-       If there is no variation, the population can’t evolve
-       Natural selection is expected to reduce heritable variation in populations
-       Evolution cannot occur without heritable variation:
o   Historical view:
§  Nat selection eliminates variation
§  Little variation present in current populations (evolution is a thing of the past!)
-       BUT we now know that mutation is constantly generating new variants
-       Does mutation ‘keep up’ with selection?
-       Mutation: change in the nucleotide sequence of DNA
Point mutation:
-       Single-base change in DNA sequence = new allele
-       Common source of genetic variation
-       Can have large effects on phenotypes
o   Even mutations in introns can affect proteins
o   Introns are non coding parts of DNA
-       Causes:
o   Random errors in DNA replication
o   Damage or chemical alteration to DNA
o   Lack of repair (e.g by DNA polymerase)
Ex. Sickle-cell anemia
Ex. AVI -> PAV

Indels:
-       Inserted or deletion of nucleotides in DNA sequence
-       Most common source of genetic variation
-       Can shift codon reading frame
o   Changes meaning of all downstream codons
-       Causes:
o   Misalignment of DNA during replication
§  Common in regions w/ repeated base pairs
o   Lack of repair (e.g by DNA polymerase)
Ex. Huntington’s disease
-       Progressive brain disorder
-       Autosomal dominant, manifests in adults
-       Caused by insertion of many copies of CAG triplets in the HTT gene

2 Ways to measure genetic variation
1.     Polymorphism
-       Fraction of genes in a population with at least 2 alleles
2.     Mean heterozygosity (H)
-       Mean % individuals heterozygous per locus
-       Fraction of genes that are heterozygous in genotype of average person
-       Lower than polymorphism
Text Box: - 33-50% of enzyme loci polymorphic
- There is a lot of variation in heterozygosity
- Is it likely to underestimate or overestimate genetic variation?
o Lower
-        
-       CFTR gene = 1400 different mutations at this one locus cause the same phenotypic effect (cystic fibrosis)
Conclusion: dozens to hundreds of different alleles are present for most genes in most populations (high polymorphism)
-       Mutations generate new alleles in every generation
-       Fate of a new allele depends on its fitness effect
Text Box: Are most mutations deleterious? Neutral? Beneficial?
C. elegans
- One of the useful features of this species is that they are hermaphrodites
- Put them in conditions where mutations would be increased
- No natural selection
- 74 mutation accumulation lines after 214 generations
How can mutations be neutral to fitness?


4.   Mutation rates

5.   Evolution of mutation rate?