Quest 3 Flashcards
Transmission genetics
mechanism by which genes are passed on from parents to offspring
What 2 things did Mendel’s Law do?
- Segregation - disproved blended inheritance
- Independent Assortment - genes at one loci are independent of other loci
Particulate Inheritance
Hereditary particles responsible for inherited physical characteristics stayed separate and not blend and one “absorb” the other
Transcription
The process of making RNA from DNA
Promotor
DNA sequences that marks the beginning of a gene’s transcription
RNA polymerase
Enzyme that copies DNA to RNA
Proteins
Complex molecules made up of AAs linked together
mRNA
messenger RNA carries genetic info from DNA to cytoplasm of cell
Amino acid
Formed from 3 base pairs, acts as building blocks for proteins
tRNA
transfer RNA, helps build proteins by carrying amino acids to ribosome
Mutation
A change in the usual DNA sequence at a particular gene loci
rRNA
Makes up the majority of ribosomes in cells, and is essential for protein synthesis
Codons
3 letter genetic sequence in DNA and RNA
microRNA
non-coding RNA molecule the regulates gene expression by binding to mRNA and preventing it from producing proteins
Translocation
the process of making proteins from RNA
APE sites of ribosomes
3 binding sites for tRNA
Gene
Basic unit of heredity
What does it mean when the genetic code is REDUNDANT and SPECIFIC
More than one codon will code for one AA but one AA can not be formed by more than codon
Intron
Taken out during RNA splicing
Exon
What is left after RNA splicing, linked together to form RNA
Alternative splicing
Can lead to different proteins based on what exons are kept and which are spliced out
Alleles
One of two or more versions of a genetic sequence at a particular region of chromosomes
Genotype
The genetic make up of an organism, the set of genes it carries
Phenotype
The observable characteristics of an organism
Homozygous
Have two identical versions of the same gene, one from each parent
Heterozygous
Having two different versions o the same gene, one from each parent
Codominant
Multiple alleles dominant over a recessive
Enhancers
Enhance transcription
Silencers
Silence transcription
Epigenetic inheritance
Heritable mechanisms that alter gene expression without changes to the DNA
Cellular level
Methylation
Often stops transcription by blocking promoters and RNA polymerase
Histone modification
Influence transcription through decondensation
Cell differentiation
The process by which immature cells develop into mature cells with specific functions
Genomic imprinting
The process that controls which copy of a gene is expressed in an individual
X inactivation
A process in females where one or two X chromosomes in each is randomly silenced
Developmental Plasticity
The ability of an organism to change its form, movement, or activity rate in response to its environment
Four sources of genetic variation
- Recombination
- Mutation
- Migration
- Lateral gene transfer
What is the ultimate source of variation?
Mutation
Transition mutation
Purine is replaced by purine
Pyrimidine is replaced by pyrimidine
Transversion mutation
Purine replaced by pyrimidine
Pyrimidine replaced by purine
Synonymous mutation
Mutation that will still encode he same AA
Silent mutation
Has no change in function
Nonsense mutation
Codon now encodes for a stop codon
Insertion mutation
Adds nucleotide or codon
Deletion mutation
Removes nucleotides or codon
Frameshift mutation
Occurs when and insertion or deletion is not a perfect 3
Gene duplication
A second copy of region is inserted into chromosome
Gene duplication
A gene region is taken out
Gene inversion
A gene region is inverted
Gene translocation
A section of one chromosome is moved to a different chromosome
Are all mutations bad?
No they can be good, bad or neutral
Are mutations planned?
No the mutations are random changes
3 flaws of Mendel
- most variation seems continuous
- inheritance vs Darwinian Selection
- Frequencies of discrete traits nature doesn’t equal Mendel
What 2 things did Hardy’s model accomplish?
1.Used math to understand population dynamics under Mendelian Inheritance
2.Cleared up that dominance does not always mean better, recessive does not always mean worse
Stable equilibrium
Change in the allele frequencies pushes them back to where is was
Unstable equillibrium
any change in allele frequencies will completely change the population
Mixed equilibrium
Some changes in allele frequencies will change the population others will not.
Neutral equilibrium
Change in allele frequencies doesn’t matter
What are the 3 conclusions of Hardy-Weinberg?
- Frequencies of alleles p and q do not change over time w/out evolution processes
- Given allele frequencies and random mating we can predict the equilibrium genotype frequencies ( p^2 2pq q^2)
- If there are no evolution processes at work then a population is not in HWE but will go to HWE in one generation
What are the 5 HWE assumptions?
- No natural selection acting on that trait
- Random mating - no sexual selection in respect to that trait
- No mutation - at this loci or trait
- No migration or gene flow
- No genetic drift - population is infinite
Hardy-Weinberg equation
p^2 + 2pq + q^2 = 1
Selection coefficient
measure of how much a particular trait or genetic variant affects an organism’s survival and reproduction compared to others in the population (how strongly natural selection is acting AGAINST a particular allele)
S=0
Allele has no effect on fitness, no selection against
S=0.25
25% reduction in fitness
High S value means?
stronger selection AGAINST the trait/allele
Frequency independent selection
The fitness associated with a trait is not directly dependent on the frequency of the trait in the population
Directional selection
Type of frequency independent selection
One phenotype is favored over another (DD over dd or dd over DD)
Stabilizing selection
Type of frequency dependent selection
Intermediate is favored over either extreme (Dd is favored over DD or dd)
Disruptive selection
Type of frequency independent selection
Two extremes are favored over the intermediate (DD or dd favored over Dd)
What type of frequency dependent selection leads to speciation?
Disruptive selection
Overdominance
Heterozygote advantage
Results in a balanced polymorphism and is a case of stable equilibrium
Underdominance
Heterozygote disadvantage
Heterozygote is the worst phenotype
Why is underdominance not found in nature?
The alleles have already gone to fixation
Why is underdominance considered frequency independent?
While direction of fixation depends on frequency SELECTION ON PHENOTYPE DOES NOT
Frequency dependent selection
When the cost or benefit associated with the trait changes depending on its frequency in the population
Positive frequency dependent selection
Fitness of the trait increases as the frequency increases (leads to unstable equilibrium)
Negative frequency dependent selection
When the fitness associated with the trait decreases as the frequency increases (leads to balanced polymorphism)
Model for mutation
A1 mutates to A2 at a rate of u
A2 mutates to A1 at a rate of v
Equilibrium frequencies of our alleles under mutation
p^2 = v/(u+v)
q^2 = u/(u+v)
Mutation - Selection Balance
When the rate of deleterious allele elimination = rate of new allele creation via mutation
Assortative mating
Like mates with mate
Disassortative mating
Mate with those different from themselves
Identity by descent
Two or more individuals inherit the exact same DNA segment from a common ancestor without an changes
selfing
The most extreme version of inbreeding
How does inbreeding change genotype and allele frequencies?
Genotype frequencies - favor homozygotes
Allele frequencies - do NOT change
F-stat
Inbreeding coefficient
Inbreeding depression
The result of selfing and reproduction with genetic relatives
Happens as a consequence of increasing homozygosity