Bio101 Onifade Genetics and Evolution-1
Bio101 Onifade Genetics and Evolution-1
Chromosomes and genes are two important components of the genetic makeup of an
organism.They are the fundamental concept in the field of genetics. Chromosomes are structures
that contain the genetic material, while genes are the units of heredity that encode for specific
traits.
Chromosomes
Chromosomes are long, thin, thread-like structures that are found in the nucleus of a cell.
Chromosomes are the structures that carry genetic information in the form of DNA. They are
found in the nucleus of eukaryotic cells, which include animal, plant, and fungal cells. Each
chromosome is made up of a single long molecule of DNA wrapped around a protein called
histone. Histones help to organize and compact DNA into a structure called chromatin, which
makes it possible for chromosomes to fit into the nucleus of a cell. Chromosomes are visible
under a microscope during cell division, and the number of chromosomes varies among different
species. For example, humans have 23 pairs of chromosomes in each cell, with half coming from
each parent, while dogs have 39 pairs. The number and shape of chromosomes vary among
different organisms. In humans, the 23rd pair of chromosomes determines the sex of an individual,
with females having two X chromosomes and males having one X and one Y chromosome.
Chromosomes are important in genetics because they carry genetic information from one
generation to the next during reproduction.
Genes
The genetic material on chromosomes is arranged into sections known as genes. Genes are
segments of DNA that provide instructions for the development, function, and maintenance of an
organism.They are the basic units of heredity and determine the traits of an organism. Each gene
is made up of a specific sequence of nucleotides, which are the building blocks of DNA. The
order of nucleotides in a gene determines the sequence of amino acids in a protein, which in turn
determines the function of the protein. There are approximately 20,000-25,000 genes in the
human genome, which is the complete set of genetic information in humans. Genes are
responsible for a wide range of traits, including eye colour, hair colour, height, and susceptibility
to diseases.
The molecular basis of genes, the DNA, consists of a chain made from four types of nucleotide
subunits, each composed of: a five-carbon sugar (2-deoxyribose), a phosphate group, and one of
the four bases adenine(A), cytosine(C), guanine(G),and thymine(T). Two chains of DNA twist
around each other to form a DNA double helix with the phosphate-sugar back bone spiralling
around the outside, and the bases pointing inwards with adenine base pairing to thymine and
guanine to cytosine. The specificity of base pairing occurs because adenine and thymine align to
form two hydrogen bonds, whereas cytosine and guanine form three hydrogen bonds. The two
strands in a double helix must, therefore, be complementary. Due to the chemical composition of
the pentose residues of the bases, DNA strands have directionality. One end of a DNA polymer
contains an exposed hydroxyl group on the deoxyribose; this is known as the 3' end of the
molecule. The other end contains an exposed phosphate group; this is the 5' end. The two strands
of a double-helix run in opposite directions. Nucleic acid synthesis, including DNA replication
and transcription occurs in the 5'→3 'direction
Genes are not static; they can be turned on or off, and their expression can be affected by a
variety of factors, including environmental factors and other genes. Mutations in genes can also
occur, which can result in changes to the protein that is produced or a loss of function. One of the
most important things to understand about genes is that they do not work in isolation. Rather,
they interact with one another and with environmental factors to produce the traits and
characteristics that we see in individuals.
Chromosomes and genes are closely related. Genes are located on chromosomes, and the location
of a gene on a chromosome is called a locus. Each locus is associated with a specific trait or
function. For example, the locus for the gene that determines eye colour is on chromosome 15 in
humans. The order of genes on a chromosome is called a gene map or genetic map. Each
chromosome contains many genes, with the number of genes varying from chromosome to
chromosome and arrangement of genes on a chromosome determine its function. For example,
the X chromosome in humans contains many genes that are important for regulating sexual
development and reproduction.
The organization of genes on a chromosome can vary between species. In some organisms, genes
are arranged in a linear fashion, with one gene following another in a specific order. In other
organisms, genes are organized inclusters, with multiple genes located in close proximity to each
other. In some cases, genes can even overlap, meaning that a single stretch of DNA can contain
instructions for two or more different genes. The location of a gene on a chromosome can
influence its expression, or how it is expressed in an organism. The relationship between
chromosomes and genes is important in genetics because it determines how traits are inherited
from one generation to the next.
During reproduction, chromosomes are passed from the parent to the offspring, and the genes on
those chromosomes are inherited by the offspring. The number of chromosomes in an organism
also determines its genetic complexity. For example, humans have 23 pairs of chromosomes,
while chimpanzees have 24 pairs. The extra chromosome in chimpanzees results in a small
genetic difference that distinguishes them from humans.
Importance
Chromosomes and genes play essential roles in genetics and evolution. They determine an
organism's traits, and changes in genes and chromosomes can lead to genetic disorders and
diseases.
Inheritance
Inheritance occurs when parents pass on their chromosomes to their offspring, along with the
genes located on those chromosomes. Chromosomes and genes are responsible for the
transmission of genetic information from parents to offspring. Through the process of meiosis,
chromosomes are separated into gametes(sperm and eggcells), which combine during fertilization
to form a new individual with a unique set of chromosomes and genes. For example,
cysticfibrosis(CF) is a genetic disorder that affects the lungs, pancreas, and other organs. It is
caused by a mutation in a gene called CFTR(cysticfibrosis transmembrane conductance
regulator), which is located on chromosome 7 in humans. The CFTR gene provide instructions
for making a protein that regulates the movement of salt and water in and out of cells. The
inheritance of cysticfibrosis follows a pattern known as autosomal recessive inheritance. This
means that a person must inherit two copies of the mutated CFTRgene, one from each parent, to
develop the disorder.
Genetic Disorders and Cancer
Chromosomes and genes are also involved in the development of genetic disorders .Mutations or
changes in genes can lead to genetic disorders such as cysticfibrosis, sicklecell anaemia, and
Downsyndrome. For example, Down syndrome is caused by an extra copy of chromosome 21,
while sicklecell anaemia is caused by a mutation in the gene that codes for haemoglobin.
Chromosomes and genes also play a crucial role in the development of cancer. Mutations or
changes in genes can lead to uncontrolled cell growth and division, which can result in the
formation of tumours.
Evolution
Changes in genes and chromosomes are the basis for evolution. Genetic mutations can result in
new traits that may be beneficial or detrimental to an organism's survival. Overtime, these
changes can accumulate, leading to the development of new species.
For example, the peppered moth(Biston betularia) is a moth species found in Europe and North
America. It has two distinct colour morphs-light and dark. During the earlier years, the light moth
are more common but due to pollution causing the darkening of the bark of trees, the moth
evolved to a dark-coloured moth so as to adapt better to its environment. The evolution of the
moth has to do with increased changes in the frequency of the melanic gene–the gene coding for
melanin.
Genetic Therapy
Understanding the relationship between chromosomes and genes is important for identifying
genetic disorders and developing treatments for diseases caused by genetic mutations. Advances
in genetics have led to the development of gene therapy, which involves the insertion, deletion, or
modification of genes to treat or prevent diseases. For example, in CF patient, gene therapy for
cysticfibrosis typically involves the delivery of a functional copy of the CFTR(cystic fibrosis
transmembrane conductance regulator) gene to the patient's cells. This can be done using a viral
vector, which is a virus that has been modified to carry the functional gene and deliver it to the
patient's cells. Once the viral vector enters the patient's cells, it releases the functional
CFTRgene, which then becomes incorporated into the patient's chromosomes.
Personalised Medicines
Genetics is defined as the study of heredity, which is the transmission of traits (genes) from one
generation to the next generation. Mendelian genetics, also known classical genetics, are
principles of biology created in the 19 th Century by an Austrian monk, Gregor Mendel. He is,
thus, known as the Father of Genetics as he examined garden pea(Pisum sativum) and discovered
Prior to the general recognition of Mendelian genetics, it was believed that heredity was a blend
of traits from two parents. For example, a black-haired parent and a blond-haired parent would
give birth to a child with brown hair. However, Mendel demonstrated that inheritance is not
based on this blending concept. Instead, individuals have discreet units of heredity, presently
known as genes, and these genes are passed down to offspring. Thus, the characteristics an
offspring displays are based on the alleles they inherit and the dominance of those alleles.
Mendel used peas that were pure-bred for specific traits for his experiment. For instance, he knew
which plants were pure-bred for purple flowers or white flowers because he self-pollinated them
for years, over and over, and the flowers they produced were always purple and white
creating a hybrid. The pure breeds were called the parent generation(P) and the hybrids were
called the first filial generation(F1).The result of his experimentation were all purple flowers.
Reasons for using Peas
A short life cycle that allows several generations to be studied within a short period.
Presence of bisexual flowers for self-pollination, thus making it possible to obtain pure
It is however important to define some terms used in the classical study of genetics.
Gene: this is the basic unit of heredity in other words, for each trait, organisms get one gene from
Allele: this is a variant or alternative form of a gene. For instance, the shape of Mendel's pea
plants exists in two forms :some peas were wrinkly, and others were round. These are two
Homozygous:If an organism's two alleles are the same, it is homozygous(AAor aa) for that trait.
Phenotype: this basically refers to how an organism looks, regardless of its alleles.
Genotype: Genotype refers to the exact allelic makeup of an organism, regardless of how the
organism looks.
Dominant allele: A dominant allele is an allele that shows up in the phenotype of a
heterozygote.The Round(R) allele is dominant in peas over the Wrinkled(r) allele. So, in a plant
heterozygous for pea shape, with one copy of the round allele and one copy of the wrinkled
allele, the plant would have the Rr genotype, and its peas would appear completely round, just as
Recessive allele: A recessive allele is an allele that does not show up in the phenotype of a
heterozygote.
Notice: An organism must be homozygous for a recessive allele for it to be observed in its
phenotype. Because wrinkled peas are recessive,we need an rr genotype to observe a wrinkled
Three principles make up the Mendelian Theory of Inheritance. These principles are the
The Law of Dominance: this states that, in a heterozygote(Aa), the dominant allele is expressed
exclusively. i.e one form of a hereditary trait dominates or prevents the expression of the
recessive trait. We can observe this when we cross two homozygous parent organisms for
different alleles, and see that their offspring is heterozygous for both alleles but has the same
The Law of Segregation: states that when an organism is making gametes, it separates its gene
pair, or alleles so that each one is individually packaged. Then, during reproduction, one maternal
and one paternal gamete will fuse so that their offspring will get one random allele from each
The Law of Independent Assortment: states that alleles of different genes are inherited
independently of one another. In otherwords, traits will be inherited independently of each other,
provided their genes are located on non-homologous chromosomes. Thus, an allele inherited for
one gene doesn't influence or affect the ability to inherit an allele of a different gene.
For example, a parent plant with purple flowers and wrinkly peas passes down their wrinkled
The independent assortment of genes can be illustrated by a dihybrid cross, a cross between two
true-breeding parents that express different traits for two characteristics. Consider the
characteristics of seed color and seed texture for two pea plants, one that has green, wrinkled
seeds(yyrr) and another that has yellow, round seeds(YYRR). Because each parent is
homozygous, the principle of segregation indicates that the gametes for the green/wrinkled plant
all are yr, and the gametes for the yellow/round plant are all YR. Therefore, the F1 generation of
offspring all are YR. However, for the F2 generation, the principle of segregation requires that
each gamete receive either an R allele or an r allele along with either a Y allele or a y allele.
The physical basis for the principle of independent assortment also lies in meiosis I, in which the
different homologous pairs lineup in random orientations. Each gamete can contain any
combination of paternal and maternal chromosomes(and therefore the genes on them) because
Although Mendelian genetics is foundational, not every trait fits neatly into these three
Multiple Genes: Multiple genes control some characteristics. These are called polygenic traits.
Multiple Alleles: Even if a trait is controlled by just one gene, there may be more than two
alleles for that gene. In Mendel's pea plants, every trait he studied had only two possible
alleles(wrinkled or round, green or yellow, normal-sized or dwarf, purple or white flowers, etc.)
But the gene determining human blood types, for example, has three possible alleles A, B, and O.
Codominance: When Mendel crossed purple flowers and white flowers, he didn't get light-
purple flowers, so he postulated that all traits have an all-or-nothing, dominant or recessive
phenotype. However, we have discovered some traits in some animals where both alleles can be
expressed together, called codominance. An example of this is speckled chickens, which have
both white and black feathers from their pure white and pure black parents.
parents; thus, neither allele is completely dominant. This blending form of inheritance is
reminiscent of the popularly held concepts in Mendel's era. We can see this form of inheritance in
Palomino-colored horses, whose tan coat color is in between their brown and white parent's coats
Pleiotropy: If a gene is pleiotropic, it has multiple effects on the phenotype. Unlike the allele for
wrinkled peas, which didn't affect height or flower color, or anything other than pea shape, some
genes in higher organisms have multiple effects. For example, PKU, a disease in humans due to
an altered gene, causes features like slow growth, reduced skin pigment, and intellectual
Gene Linkage: Gene linkage means that a gene at a particular spot on a chromosome in fluences
the ability to inherit a different gene on the same or different chromosomes. Two linked genes
tend to assort together, and inheriting one would increase the likelihood that you inherit another.
In humans, genes for hair color and eye color exhibit some gene linkage,which you may have
noticed if you've thought of how often blonde hair and blue eyes occur together
The term ‘evolution’ has a special place in the study of the history of life. It has become the
unifying concept which underpins the whole study of biology. Evolution implies an overall
gradual development which is both ordred and sequential. In terms of living organisms it may be
defined as the development of differentiated organisms from pre-existing, less differentiated
organisms over the course of time.
The concept of evolution did not begin with Darwin and the publication of On the Origin of
Species. Long before Darwin, attempts to explain the obvious diversity of living organisms which
surround us had, paradoxically, led people to consider the basic structural and functional
similarities which exist between organisms. Evolutionary hypotheses had been, proposed to
account for this and these ideas have themselves ‘evolved’ since the time of Darwin as
knowledge has advanced.
Evolution means the process of developing by gradual changes. Evolution usually refers to
a process that produces a better or more complex form.
It is the natural process by which animals and plants develop from their original or
primitive state to their modern or specialized state.
The basic idea of biological evolution is that populations and species of organisms
change overtime. Biological evolution refers to genetic change in species or populations
overtime.
Today, when we think of evolution, we are likely to link this idea with one specific
person: the British naturalist Charles Darwin.
Charles Darwin was a British naturalist who proposed the theory of biological evolut ion by
natural selection.
Darwin defined evolution as "descent with modification," the idea that species change
overtime, give rise to new species, and share a common ancestor.
The mechanism that Darwin proposed for evolution is natural selection. Because resources
are limited in nature, organisms with heritable traits that favor survival and reproduction
will tend to leave more offspring than their peers, causing the traits to increase in frequency
over generations.
Natural selection in which heritable traits that help organisms survive and reproduce become
more common in a population overtime.
These ideas were largely based on direct observations from Darwin's travels around the
globe. From 1831 to 1836, he was part of a survey expedition carried out by the ship HMS
Beagle,
Which included stops in South America, Australia, and the southern tip of Africa. A teach of
the expedition's stops, Darwin had the opportunity to study and catalog the local plants and
animals.
Over the course of his travels, Darwin began to see intriguing patterns in the distribution
and features of organisms. We can see some of the most important patterns Darwin
noticed in distribution of organisms by looking at his observations of the Gal ápagos
Islands off the coast of Ecuador.
Darwin found that nearby islands in the Galápagos had similar but non-identical species of
Finches living on them. Moreover, he noted that each finch species was well-suited for its
Environment and role. For instance, species that ate large seeds tended to have large, tough
beaks, while those that ate insects had thin, sharp beaks. Finally, he observed that the
finches (and other animals) found on the Galápagos Islands were similar to species on the
nearby mainland of Ecuador, but different from those found elsewhere in the world.
Darwin didn't figure all of this out on his trip. Infact, he didn't even realize all the finches
were related but distinct species until he showed his specimens to a skilled ornithologist
(bird biologist) years later.
Gradually, however, he came up with an idea that could explain the pattern of related
but different finches.
According to Darwin's idea, this pattern would make sense if the Galápagos Islands had
long ago been populated by birds from the neighboring mainland. On each island, the
finches might have gradually adapted to local conditions(over many generations and long
periods of time). This process could have led to the formation of one or more distinct
species on each island.
If this idea was correct, though, why was it correct? What mechanism could explain how
each finch population had acquired adaptations, or features that made it well-suited to it
immediate environment? During his voyage, and in the years after, Darwin developed and
refined a set of ideas that could explain the patterns he had observed during his voyage. In his
book, On the
Origin of Species, Darwin outlined his two key ideas: evolution and natural selection.
Evolution
Darwin proposed that species can change overtime, that new species come from pre-existing
species, and that all species shared common ancestor. In this model, each species has its own
unique set of heritable(genetic) differences from the common ancestor, which have
accumulated gradually over very long time periods
Repeated branching events, in which new species split off from a common ancestor,
produce a multi-level "tree" that links all living organisms.
Darwin referred to this process, in which groups of organisms change in their heritable
traits over generations, as “descent with modification. "Today, we call it evolution.
Natural Selection
Importantly, Darwin didn't just propose that organisms evolved. If that had been the
beginning and end of his theory, he wouldn't be in as many textbooks as he is today!
Instead, Darwin also proposed a mechinism of evolution. This mechanism was elegant
and logical, and it explained how populations could evolve(undergo descent with
modification) in such a way that they became better suited to their environments
overtime.
Traits are often heritable. In living organisms, many characteristics are inherited, or passed
from parent to offspring. (Darwin knew this was the case, even though he did not know that
traits were inherited via genes)
More offspring are produced than can survive. Organisms are capable of producing more
Offspring than their environments can support. Thus, there is competition for limited
resources in each generation. Offspring vary in their heritable traits.
The offspring in any generation will be slightly different from one another in their
traits(color,size,shape,etc.), and many of these features will be heritable.
Because the helpful traits are heritable, and because organisms with these traits leave
more offspring, the traits will tend to become more common(present in a larger fraction
of the populatio) in the next generation.
Over generations, the population will become adapted to its environment(as individuals with
traits helpful in that environment have consistently greater reproductive success than
their peers).
Darwin's model of evolution by natural selection allowed him to explain the patterns he
had seen during his travels. For instance, if the Galápagos finch species shared a
common ancestor, it made sense that they should broadly resemble one another (and
mainland finches, who likely shared that common ancestor). If groups of finches had
been isolated on separate islands for many generations, however, each group would
have been exposed to a different environment in which different heritable traits might
have been favored, such as different sizes and shapes of beaks for using different food
sources. These factors could have led to the formation of distinct species on each
island.
Because the hawks can see and catch the tan mice more easily, a relatively large fraction of
the tan mice are eaten, while a much smaller fraction of the black mice are eaten. If we look
at the ratio of black mice to tan mice in the surviving ("not-eaten") group, it will be higher
than in the starting population.
Fur color is a heritable trait (one that can be passed from parent to child). So, the increased
fraction of black mice in the surviving group means an increased fraction of black baby
mice in the next generation. After several generations of selection, the population might be
made up almost entirely of black mice. This change in the heritable features of the
population is an example of evolution.
When I was first learning about natural selection, I had some questions (and
misconceptions!) about how it worked. Here are explanations about some potentially
confusing points, which may help you get a better sense of how, when, and why natural
selection takes place.
Natural selection doesn't favor traits that are some how inherently superior. Instead, it favors
traits that are beneficial (that is, help an organism survive and reproduce more effectively
than its peers) in a specific environment. Traits that are helpful in one environment might
actually be harmful in another. Example
The original source of the new gene variants that produce new heritable traits, such as fur
colors, is random mutation (changes in DNA sequence). Random mutations that are passed
on to offspring typically occur in the germline, or sperm and egg cell lineage, of organisms.
Sexual reproduction "mixes and matches "gene variants to make more variation. Do
organisms mutate on purpose?
Let's take a step back and consider how natural selection fits in with Darwin's broader
vision of evolution, one in which all living things share a common ancestor and are
descended from that ancestor in a huge, branching tree. What is happening at each of those
branch points?
In the example of Darwin's finches, we saw that groups in a single population may be
come isolated from one another by geographical barriers, such as ocean surrounding
islands, or by other mechanisms. Once isolated, the groups can no longer interbreed and
are exposed to different environments. In each environment, natural selection is likely to
favor different traits (and other evolutionary forces, such as random drift, may also
operate separately on the groups). Over many generations, differences inheritable traits
can accumulate between the groups, to the extent that they are considered separates
species.
Based on various lines of evidence, scientists think that this type of process has repeated
many, many times during the history of life on Earth. Evolution by natural selection and other
mechanisms underlies the incredible diversity of present-day life forms,and the action of
natural selection can explain the fit between present-day organisms and their environments.
How would have Homo sapiens evolved from the apes, why did the characteristics of
standing erect dominate over bending forward. Would it be a transmission of the lifestyle
of apes eating food from the ground to hunting
Standing on 2 legs on the ground will give more broad and wide of view instead of 4 legs.
Climbing onto the tree will give more advantage but more effort just to check the
surroundings. So standing on 2 legs dominated overtime for our species to become.
In the example of the mice and hawks, what if due to natural selection the hawk's ability to
spot out black mice increases? Will that cause the mice to counter evolve and will this cycle
This phenomenon is a key to understanding not just predator-prey interactions, but also
many other ecological phenomena such as host-parasite interactions (including disease
evolution), and the interaction between many flowering plants and their pollinators (an
extreme example being orchid flowers that mimic female insects to get their pollen
transferred by male insects).
If natural selection is favouring traits which are beneficial for the environment then couldn't
it be stated that as a human choosing to have less children is a trait which is favourable to
pass onto your children? Natural selection favors traits that are better for the ORGANISM'S
survival and reproduction not for the environment.
Natural selection is a mechanism that makes any species-be it a plant, animal, fungus,
bacteria, you name it-better adapted to their environment. For herbivores (i.e.plant eaters), the
plants
Are in deed part of their environment. In such a situation, the evolution of the plant may
affect the evolution of the plant eater (which may in turn affect the evolution of the
plant). This process (or feedback) is called co-evolution.
Coevolution may also occur with predator and prey, parasite and host, and many other
cases where two species are dependent on each other
Lamarkism
Lamarckism was proposed by Jean- Baptiste de Monet Lamarck in the year 1744-1829. This
Theory was based on the principle that all the physical changes occurring in an in dividual
during its lifetime are inherited by its offspring. For eg., the development of an organ when
used many times. This theory has been explained here.
The organs which are used frequently by the organism develop and the characteristics that
are used seldom are lost in the succeeding generations. For eg., a giraffe stretches its neck to
eat leaves, a “nervous fluid” would flow in its neck and it enlarges. The organs which the
organisms have stopped using would shrink with time.
Organism Driven to Greater complexity
As the organisms adapted to their surroundings, they became increasingly complex from the
simpler forms. Lamarck believed in the spontaneous generation of life.
An individual acquires certain characteristics during its lifetime. These characters are
inherited by their offspring as well. He explained this with an example of a blacksmith. A
blacksmith has strong arms due to the nature of their work. He proposed that any children a
blacksmith conceives will inherit the development of strong muscles.
Example of Lamarkism
Few of the examples of Lamarckism are mentioned below:
Evolution of Giraffe
The ancestors of the giraffe looked like horses with small necks and forelimbs. They lived in
areas where there was no surface vegetation. Therefore, they had to stretch their neck and
Forelimbs to eat leaves from tall plants. Consequently, these parts got elongated. This trait
was transmitted in the successive generations.
Aquatic Birds with Webbed Toes
Aquatic birds such as ducks are believed to have evolved from terrestrial animal
Extinction of Limbs in Snakes
The snakes are believed to have evolved from lizard-like ancestors that have two pairs of
limbs.
Flightless Bird
It is believed that the ancestors of birds such as Ostrich were able to fly. Due to some
Environmental changes, they had a lot of food and were well protected. They stopped using
their wings and as a result, the wings became vestigial.
Cave Dwellers
The ancestors of the animals living in caves are believed to have powerful eyesight. Due to
living under continuous dark conditions, they lost their power to see.
Lamarck proposed theories like the inheritance of acquired characters, use and d isuse,
increase incomplexity, etc. whereas Darwin proposed theories like inheritance, different
survival, species variation, and extinction.
Darwin did not completely believe in his theory of acquired characters and proposed that the
As the environment of an organism changes, so does his basic needs. The behaviour of the
Individual changes that eventually change organ usage and organism development. This
gradual change in the species in response to the environment is known as “transmutation of
species”.
Lamarckism was reformed by Giard and Cope by incorporating a few points of the
opponents. This theory is known as Neo-Lamarckism.