GENETICS

Hardy-Weinberg Principle
Hardy-Weinberg Principle
• Godfrey Harold Hardy (pic) and Wilhelm Weinberg (pic) coined the
term.
• The Hardy-Weinberg Principle states that the genetic variation in a
population will remain constant from one generation to the next in
the absence of disturbing factors. (pic)
• If a population maintains all assumptions of the Hardy-Weinberg
Equilibrium, the population is not evolving.
Hardy-Weinberg Principle (cont.)
Assumptions of a Hardy-Weinberg Principle: (pic lahat)
1. Organisms are diploid
2. Only sexual reproduction occurs
3. Generations are non-overlapping
4. Mating is random
5. Population size is infinitely large
6. Allele frequencies are equal in the sexes
7. There is no migration, gene flow, mutation, or selection
Hardy-Weinberg Principle (cont.)
• No known population has attained Hardy-Weinberg Equilibrium;
because all of these disruptive forces commonly occur in nature, the
Hardy-Weinberg equilibrium rarely applies in reality.
• Therefore, the Hardy-Weinberg equilibrium describes an idealized
state, and genetic variations in nature can be measured as changes
from this equilibrium state.
Hardy-Weinberg Principle (cont.)
• Example:
• A population of sheep is in Hardy-Weinberg Equilibrium. The allele for black
wool (w) has an allele frequency of 0.9. What is the percentage of
homozygous dominant (WW), homozygous recessive (ww), and heterozygous
(Ww) individuals in the population?
Mechanisms of Evolutionary
Change
Mechanisms of Evolutionary Change
• Microevolution (pic) - (evolution on a small-scale) refers to the
changes in allele frequencies within a single population.
• Allele frequencies in a population may change due to four
fundamental forces of evolution: Natural Selection, Genetic Drift,
Mutations and Gene Flow.
• Mutations are the ultimate source of new alleles in a gene pool.
• Natural selection usually predominates in large populations whereas
genetic drift does so in small ones.
Mechanisms of Evolutionary Change (cont.)
• NATURAL SELECTION (pic)
• Natural selection leads to an evolutionary change when some individuals with
certain traits in a population have a higher survival and reproductive rate than
others and pass on these inheritable genetic features to their offspring.
• Evolution acts through natural selection whereby reproductive and genetic
qualities that prove advantageous to survival prevail into future generations.
• Natural selection operates by differential reproductive success (fitness) of
individuals.
Mechanisms of Evolutionary Change (cont.)
Darwin’s Finches
diagram illustrates
the way the finch
has adapted to
take advantage of
feeding in
different
ecological niches:
Mechanisms of Evolutionary Change (cont.)
• GENETIC DRIFT
• Random Drift (pic) consists of random fluctuations in the frequency of
appearance of a gene, usually, in a small population.
• The process may cause gene variants to disappear completely, thereby
reducing genetic variability.
• In contrast to natural selection, environmental or adaptive pressures do not
drive changes due to genetic drift.
• The effect of genetic drift is larger in small populations and smaller in large
populations.
Mechanisms of Evolutionary Change (cont.)
• GENETIC DRIFT
• Genetic drift (pic) is a stochastic process, a random event that happens by
chance in nature that influences or changes allele frequency within a
population as a result of sampling error from generation to generation.
• It may happen that some alleles are completely lost within a generation due
to genetic drift, even if they are beneficial traits that conduct to evolutionary
and reproductive success.
• Alleles are responsible for variations in a trait.
Mechanisms of Evolutionary Change (cont.)
• GENETIC DRIFT
• The population bottleneck and a founder effect are two examples of random
drift that can have significant effects in small populations.
Mechanisms of Evolutionary Change (cont.)
• GENETIC DRIFT
• Population bottleneck (pic)
• a sharp reduction in the size of a population due to environmental events (such as
famines, earthquakes, floods, fires, disease, or droughts) or human activities (such as
genocide)
• a random event
• results in a drastic reduction of the total genetic diversity of the original gene pool
• Founder effect (pic)
• loss of genetic variation that occurs when a new population is established by a very small
number of individuals from a larger population.
• no genetic diversity
• presence of certain genetic diseases in the next generations
• plays a fundamental role in the emergence of new species
• Population
bottleneck
• Founder effect
Mechanisms of Evolutionary Change (cont.)
• Founder effect
• Amish people in Pennsylvania, U.S. are a clear example of this event (pic).
The fact of being social and culturally isolated and the tendency to marry
within the community (group interbreeding) (pic)make that certain types of
genetic disorders like Ellis-van Creveld Syndrome(pic) are transmitted from
one generation to another with a high probability. The above syndrome
was first described in 1940 by Richard W. Ellis(pic) and Simon van
Creveld(pic) and is characterized by a skeletal dysplasia(pic). Some of the
features of this rare condition are: disproportionate dwarfism(pic),
postaxial polydactyly(pic), small chest(pic), high frequency of congenital
heart defects(pic), among others. Most inherited genetic diseases are
recessive. This means that a person must inherit two copies of the mutated
gene to inherit a disorder. In this kind of populations, endogamy(pic)
contributes to the latter.
Mechanisms of Evolutionary Change (cont.)
• MUTATIONS
• Mutation can be defined as a change in the DNA sequence within a gene or
chromosome of a living organism. (pic).
• Many mutations are neutral, i.e. they can neither harm nor benefit, but can
also be deleterious or beneficial.
• Deleterious mutations (pic). can affect the phenotype and in turn, reduce the fitness of
an organism and increase the susceptibility to several illnesses and disorders.
• On the other hand, beneficial mutations (pic). can lead to the reproductive success and
adaptability of an organism to its environment. These beneficial mutations can be spread
and fixed in the population due to natural selection processes if they help individuals in
the population to reach sexual maturity and to successfully reproduce.
Mechanisms of Evolutionary Change (cont.)
• MUTATIONS
• Mutations are a source of genetic variation and serve as a raw material for
evolution to act.
• Germ line mutations (pic). occur in gametes (eggs or sperm cells) and can be
pass on to offspring, whereas somatic mutations occur in non-reproductive
cells and are not pass on to the following generation.
• Those mutations that occur in germ line are the most important to large-scale
evolution because they can be transmitted to offspring.
Mechanisms of Evolutionary Change (cont.)
• MUTATIONS
• Mutations can be spontaneous, but they can also be induced by numerous
external or exogenous factors like environmental chemical agents or ionizing
radiation.
• For example: According to their magnitude, they can be divided into three
different groups: Gene mutations, chromosome mutations, and genome
mutations.
Mechanisms of Evolutionary Change (cont.)
• MUTATIONS
• A gene mutation (pic) can be defined as any change in the sequence of
nucleotides of the genetic material of an organism.
• A chromosome mutation (pic) is a change in the structure or arrangement of
the chromosomes. These mutations can involve duplications or deletions of
chromosome segments, inversions of sections of DNA (reversed positions)
and translocation.
• Genome mutations (pic) are alterations in the number of chromosomes in
the genome. They can be classified into two groups: Aneuploidy and Euploidy.
• Aneuploidy (pic) is the losses and/or gains of individual chromosomes from the normal
chromosome set arising from errors in chromosome segregation, and Euploidy (pic)
refers to variations in complete sets of chromosomes.
Mechanisms of Evolutionary Change (cont.)
• MUTATIONS
Mechanisms of Evolutionary Change (cont.)
• MUTATIONS
• Chromosome (pic) : A thread-like structure found in the nucleus of living cells that
carries genetic information in the form of genes. Chromosomes come in pairs.
• Gene (pic) : A unit of hereditary information consisting of a sequence of DNA that
occupies a specific location on a chromosome and determines a particular
characteristic of an organism. Every person has two copies of each gene, one
inherited from each parent. Different versions of the same gene are called alleles.
They determine how physical traits are expressed in a given individual.
• DNA (pic) (Deoxyribonucleic acid): A long double-stranded nucleic acid molecule
arranged as a double helix and joined by hydrogen bonds between the
complementary bases: Adenine and Thymine or Cytosine and Guanine. It is the main
constituent of chromosomes and it is the responsible for the transmission of
hereditary characteristics from parents to offspring. The sequence of nucleotides
determines individual hereditary characteristics.
• Genome (pic) : The complete genetic material of an organism which is contained in
the chromosomes, including the genes and DNA sequences.
Mechanisms of Evolutionary Change (cont.)
• MUTATIONS
• Viruses (pic), despite not being considered living entities are also subject to
evolutionary pressures, mutations and natural selection.
• They do not have a cellular structure and they are obligate intracellular parasites.
• They do not possess a cell membrane in the sense of a phospholipid bilayer or
metabolize on their own and they need to hijack the machinery of the cell to reproduce.
• They cannot reproduce outside a living cell.
• Their real position in the tree of life continues to generate controversy in the scientific
community as they move in a thin boundary line between the living and the nonliving.
Mechanisms of Evolutionary Change (cont.)
• MUTATIONS
• Viruses have a simple genome that contains the genetic information encoded
in either DNA or RNA and also high replication and mutation rates.
• Influenza viruses (pic), for example, are RNA viruses belonging to the
family Orthomyxoviridae (pic).
• There are three types of flu viruses: A (pic), B (pic), and C (pic).
• Influenza type A (pic) viruses can eventually cause severe illness and are the unique
responsible for Influenza human pandemics.
• They are subdivided into different subtypes based on the two antigenic proteins on the
surface of the virus: Hemagglutinin (pic) (HA) and Neuraminidase (pic) (NA).
Mechanisms of Evolutionary Change (cont.)
• MUTATIONS
• These viruses are formed by eight single-stranded RNA segments and have a
very high rate of mutation (the error rate of the viral RNA-polymerase is 1000
times higher than the error rate of the human DNA- polymerase).
• Thus, replication of RNA viral genomes is error-prone and leads to several mutations on
which natural selection can act.
• Mutations in viral RNA together with recombinations of RNA have led to viral
evolution.
• The high mutation rates, the existence of large population sizes, and short generation
times are the fundamental features that have contributed to the rapid evolution of
viruses.
Mechanisms of Evolutionary Change (cont.)
• VIRUSES

Influenza Virus. Image: Centers for Disease Control and prevention (CDC).
Mechanisms of Evolutionary Change (cont.)
• MUTATIONS
• Antigenic drift(pic) is a minor change in the antigenic protein structure (HA and NA)
in Influenza type A strains.
• These minor changes are produced by the accumulation of spontaneous mutations in genes
encoding these surface proteins.
• Drift is an ongoing process that conducts to the emergence of new virus strains.
• When these minor changes occur, antibodies only provide a limited protection or partial
immunity against the new strain, basically due to older exposures.
• This is the reason why people get flu(pic) more than on time throughout their lives,
since the antibodies previously produced against the older strains no longer
recognize the new virus strain and as a consequence, they are not effective anymore
in fighting and controlling the infection.
• For this specific reason, flu vaccines have to be modified every year(pic) based on the strains
that are supposed to circulate each season.
Mechanisms of Evolutionary Change (cont.)
Mechanisms of Evolutionary Change (cont.)
• MUTATIONS
• Antigenic shift(pic) is the process according to which at least two different strains of
a flu virus are combined, giving rise to a new subtype with a new genetic material.
• It is a result of recombination events between different viral strains that infect the same cell
and combine. (pic)
• The surface viral proteins are replaced by significantly different HA and NA.
• These radical changes lead to the emergence of new Influenza A virus subtype(pic)
that has never circulated among the population and thus, most individuals are not
immune against it.
• If this new virus were able to cause severe illness and could spread easily from one person to
another through various regions or continents, then a (flu) pandemic(pic) would occur.
• While influenza viruses are changing all the time by the antigenic drift mechanism,
antigenic shift only occurs occasionally.
Mechanisms of Evolutionary Change (cont.)
• GENE FLOW
• Gene Flow(pic) (also known as gene migration) refers to the transfer of genes
from the gene pool of one population to another.
• Gene flow may change the frequency and/or the range of alleles in the
populations due to the migration of individuals or gametes that can
reproduce in a different population.
• The introduction of new alleles increases variability within a population and
allows for new combinations of traits.
Mechanisms of Evolutionary Change (cont.)
• GENE FLOW
• Horizontal gene transfer (pic) (HGT) also known as lateral gene transfer (LGT),
is a process in which an organism (recipient) acquires genetic material from
another one (donor) by asexual means.
• It is already known that HGT has played a major role in the evolution of many
organisms like bacteria.
• In plant populations, the great majority of cases linked to this mechanism
have to do with the movement of DNA between mitochondrial genomes. (pic)
• Horizontal gene transfer is a widespread phenomenon in prokaryotes, but the
prevalence and implications of this mechanism in the evolution of multicellular
eukaryotes is still unclear.
Mechanisms of Evolutionary Change (cont.)
• GENE FLOW
• Plant populations can experience gene flow by spreading their pollen long
distances away to other populations by means of wind or through birds or
insects (bees, for example) and once there, this pollen is able to fertilize the
plants where it ended up. (pic)
• Pollen(pic) is a fine to coarse powder containing the microgametophytes of seed plants,
which produce the male gametes (comparable to sperm cells).
• Pollination does not always lead to fertilization.
Mechanisms of Evolutionary Change (cont.)
• GENE FLOW
• Human migrations have occurred throughout the history of mankind and are
defined as the movement of people from one place to another.
• This movement needs to be associated with the introduction of new alleles into a
population through successful mating of individuals from different populations.
Mechanisms of Evolutionary Change (cont.)
• Human migration