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The offspring (F1 Generation) expressed only one of the phenotypes present in the parental
generation
The F1 generation was then self fertilized by each other - producing the F2 generation in which he
discovered a 3:1 ratio of round to wrinkled
This lead to the idea that each plant must possess two genetic factors encoding a character
2nd conclusion - alleles separate when gametes are
formed by the parents (one from each)
3rd - the concept of dominance and recessiveness
4th conclusion - alleles separate with equal
probability
Principle of segregation - each individual diploid
organism has two alleles for any particular
characteristic which then segregate into gametes in
equal proportions
Punnett Squares:
Another way to determine the probability of any particular combination of events is to use the
following formula:
Where P equals the overall probability of event X with probability p occurring s times and
event Y with probability q occurring t times
The Testcross:
When one individual of unknown genotype is crossed with another individual with a known
homozygous recessive genotype for that trait
o In the instance that you have a tall pea plant but don't know it's genotype, you could
perform a testcross with a homozygous short plant
If the tall plant were homozygous: all progeny would be tall
If it were heterozygous, half would be tall and half would be short
Y linked Traits
o Only males are affected - passed from
father to son
o If the father is affected, all of his sons will
be affected
o Do not skip generations
Class Example
With a western blot and densitometry, SCD can be distinguished by its expression of proteins
Vernon Ingram also studied SCD and found that a peptide (Valine) was substituted in place of
Glutamic acid father of molecular genetics
Dominant and recessive are relative terms
dependent upon the level of analysis, we can
distinguish levels of phenotype in the context of
SCD
o Physiological
o Cellular
o Molecular
The phenotype can also be effected by
changes in the environment:
At normal altitudes, the
heterozygous carriers do not show symptoms of SCD
Population genetics - studies the genetic makeup of groups of individuals and how its genetic
composition changes with time
o Focus attention on mendelian population which is a group of interbreeding sexually
reproducing individuals with a common set of genes (gene pool)
o Evolution is changes in a gene pool (frequency of different alleles)
o Mutations commonly appear in higher frequency due to a selective advantage
o Mechanisms of malaria:
Symptoms include headache, nausea, high fever, vomiting and flu like
symptoms
Susceptible to other infections which may lead to death
Cause by protozoan plasmodium falciparum carried by the mosquito larvae
mature in the liver of the host animal and then RBCs
Genotypic frequencies:
p+q=1
frequency of two alleles in a population are unlikely to be the same
the recessive allele will never disappear from the gene pool of future generations they are
maintained
Mendel patterns of inheritance for a cross are based upon frequencies of alleles in individuals
Fitness: the relative reproductive success of one genotype compared to other genotypes
within a population
o Ex. Bb is only 80% as successful as Bb or BB at producing offspring
Fitness (W) of the recessive phenotype is 80% Wbb = 0.8
Selection coefficient (relative disadvantage ) intensity of selection against a
genotype = 1 W = 1 0.8 = 0.2
o
o
o
o
We set the fitness of the genotype with highest reproductive success to 1, every other
fitness level is relative (divide number of offspring by most successful genotype)
Selection against a dominant allele will reduce frequency of the allele in the population
if selection coefficient is higher, frequency of alleles will decrease at a higher rate
If s=1.0, allele will be eliminated in one generation
Selection against a recessive allele will also reduce frequency of the allele- very fast at
beginning, slows down, a proportion is still maintained in heterozygotes cannot be
entirely eliminated even if lethal
To determine changes in allele frequency due to selection:
X-linked loci - supposed there are two alleles at an X-linked locus XA and Xa
Hardy-Weinberg Principle (of equilirbrium): makes several simplifying assumptions about population
and provides two key predictions if these assumptions are met
Assumption: population is large, randomly mating, not affected by mutation, migration, or natural
selection
Prediction 1: allelic frequencies of population do not change
Prediction 2: the genotypic frequencies will not change after one generation in the proportions p1,
2pq, and q2 (hardy weinberg equilibrium)
By adhering to the hardy weinberg principle, populations cannot evolve
When a population is not in hardy weinberg equilibrium, we have no basis for predicting the
genotypic frequencies
When in HW equilibrium, genotypic frequencies are determined by allelic frequencies
Single generation of random mating produces the equilibrium frequencies p2, 2pq and q2
Mutation: before evolution can take place, genetic variation must exist which arises through
mutation
o Allelic frequencies change with time as some alleles mutate into others, eventually reach
equilibrium (forward and reverse mutation rates)
Migration: the influx of genes from other populations (also known as gene flow)
o Causes gene pools of populations to become more similar
o Adds genetic variation to populations
Genetic Drift: usually due to small population size, a small deviation by chance can lead to changes
in allelic frequencies (random and unpredictable)
o Reduces genetic variation within populations, causes genetic divergence among populations
Natural selection: when individuals with adaptive traits produce a greater number of offspring
than that produced by others in the population
o If genetic, they are inherited by the offspring, reproductive advantage allows populations to
become better suited (adapted) to their environments
CHI SQUARE TESTS: a goodness of fit chi square test is used to determine whether the differences
between the observed and the expected numbers of each genotype arise through chance
Allelic frequencies change with passage of time, eventually they reach equilibrium and are determined
by forward and reverse mutation rates
At equilibrium, Hardy-Weinberg law tells us that genotypic frequencies will remain the same
Long periods of time are required for population to reach mutational equilibrium
Migration: prevents populations from being genetically different from one another and introduces
genetic variation within populations
Genetic Drift:
Because no population is infinitely large, allele frequency will deviate by chance
Limited sample size can be referred to as sampling error
Natural Selection: when individuals with adaptive traits produce a greater number of offspring than that
produced by others in the population
Fitness is the relative reproductive success of a genotype
Multiple genes determine phenotypic traits (cats and humans are not peas)
Dihybrid ratio: 9:3:3:1
there can be multiple types of mutations at a single gene
example: multiple alleles contributing to fur coloration in cats, different dominance
frameshift mutation deletion of a nucleotide causes the reading frame to be read differently, often
results in a loss of function allele
number of alleles determines number of possible genotypes
Gene interactions may produce novel phenotypes that will modify the 9:3:3:1 ratio
epistasis: when one gene masks or modified the phenotypic expression of another gene
Painting probes or g banding can be used to distinguish the 23 pairs of chromosomes we have
Can also be separated into two categories:
Autosomes: present in the same copy number in both males and females number of
morphology is species specific
Sex-chromosomes: different copies in males vs females
Chromosome number and structure varies between species:
Humans have 46 total chromosomes, as do sable antelopes
12 chromosomes in the Datura stramonium
12 variant phenotypes (arisen from different trisomies)
Sex chromosomes are represented differently in the two sexes
In the meiosis of grasshoppers, independent assortment was observed
Parallel to Mendels patterns of inheritance
Review of mitosis:
Def: replication of identical cells one cell produces two genetically identical cells
All cells in body reproduce and multiply by mitosis
A failure to separate is called nondisjunction
Homologues: two chromosomes carrying the same gene sequences
Meiosis: germ line cells undergo meiosis in order to produce haploid gametes
1st law: principle of equal segregation
2nd law: principle of independent assortment
Anaphase 1: reductional division homologues segregate (explains 1st principle)
we see no transcription occurring at the telomere or centromeres which are tightly compacted
these are classified as heterochromatin highly compact throughout cell cycle, low gene
expression, low gene density
o rather than constitutive, facultative heterochromatin actually converts between the hetero
and euchromatin
Phosphorylation
The centromere:
o Functional definition attachment of microtubule spindle fibres for chromosome
movement in mitosis and meiosis
o Commonly see repeated sequences not protein coding, not exclusive to centromere
o Centromeres are structurally important:
Lost centromeres results in degraded chromosome fragments
Too many may also result in a break in mitosis or meiosis
The telomere:
o Natural ends of linear chromosomes prevent chromatin degradation and
inappropriate attachment
o Also repeated sequences
In between: genes
o Unique sequence DNA: single copy genes, protein coding genes, only about 4-5% in
humans is actually protein coding
o Lots of moderately and highly repetitive DNA ie ribosomal DNA and tRNA genes
Remember females have two x chromosomes whereas males only have one and a shorter y
chromosome
o dosage compensation - way to equalize gene expression
either increase expression from y chromosome, decrease the two x
chromosomes, or turn off expression from one X chromosome
involves modifications to chromosome structure and gene expression
o this demonstrates epigenetics - heritable changes in gene expression that does not
involve a change in DNA sequence
o Barr and Bertram found a condensed mass in the nuclei of female cells in cats, not males
Was suspected to be to the x chromosome
o Sometimes genes are on the X-chromosome
o Early in development, one X chromosome is randomly inactivated
Females that are heterozygous for X-linked traits are genetic mosaics
Xist RNA coats inactivated X chromosome which attracts protein modification
factors
Compaction occurs by modification of histones that is initiated by the
Xist RNA
In each cell of the embryo, number of Xics are counted
One of the X chromosomes is targeted for inactivation
Examples of mosaics in humans for X-linked genes include:
Red green colour blindness
Anhidrotic ectrodermal dysplasia
Remember RNA polymerase and general transcription factors initiate transcription
o Cis sequences DNA sequences that bind to DNA such as enhancers and promoters
To inhibit - silencers
Trans factors proteins that bind to DNA such as transcription factors, activator
proteins, mediators, etc
to inhibit repressor proteins
o In a barr body, these proteins can not bind
The ability of protein binding is determined by chromatin structure
Modifications to histones:
o Methylation: may activate or repress gene transcription
o CpG islands are found in promoter sequences
Methylation inhibits the binding of an activator protein to the enhancer element
Methyl-CpG binding recruits other proteins that cause region to become more
compact
In comparison to sex-linked differences, genomic imprinting is determined by the sex of the parent
carrying the mutant allele, not the individual inheriting the mutation
Prader- Willi syndrome infants are small and weak with poor feeding in first 6 months, after 12 months
they eat uncontrollably and leads to diabetes and obesity paternally inherited
Angelman syndrome- motor and mental retardation maternally inherited