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2023 Biology HL Sample

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A Unity and diversity

THEME
3 Organisms

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Diversity of organisms A3.1
From single-celled organisms to coral reefs to trees, life on Earth shows a remarkable
degree of variation. For centuries, physical characteristics have been used to name
organisms and to put similar organisms into categories. More recently, thanks to DNA
sequencing, we can use the genetic code of an organism (its genome) to help show
how closely it is related to other species.
HL Cladistics is a way of classifying life forms based on evolutionary relationships.
Cladograms are diagrams similar to a family tree but made with species rather than
with parents and offspring, and they allow us to study which species are most closely
related by examining recent common ancestors.

A3.1 Diversity of organisms

Guiding Questions
What is a species?
What patterns are seen in the diversity of genomes within and between species?

Although there are at least two dozen definitions for the concept of species in biology,
we will examine two: the morphological definition that has been used for hundreds
of years, and the biological species concept definition, which has only existed in the
past few decades. The first looks at what physical features organisms have, while the
second considers whether or not individuals can breed to produce fertile offspring.
Each definition has its strengths and weaknesses. No single definition can encompass
all living organisms as well as extinct species, because such an astoundingly large
diversity exists among the various forms of life on Earth.

When DNA sequences of organisms are compared, it is possible to see that, between
individuals of the same species, there are remarkably few differences compared to the
differences between individuals belonging to two different species. A single-celled
organism with no specialized tissue is likely to have a much smaller quantity of DNA
than a multicellular organism with hundreds of different specialized tissues.

A3.1.1 – Variation between organisms


A3.1.1 – Variation between organisms as a defining feature of life
Students should understand that no two individuals are identical in all their traits. The
patterns of variation are complex and are the basis for naming and classifying organisms.

If you have pigeons where you live, you might think that they all look the same. But
ask pigeon experts and they will tell you that the level of diversity and variation among
pigeons is equivalent to the level of diversity and variation in humans. Animal breeders
such as pigeon fanciers recognize each individual in the population they are raising,
just as you would recognize your dog in a group of similar dogs. No two individuals in
a population share all the same traits. Even identical twins have slight differences.

Observing the differences between individuals within one species and observing the
differences between one species and another is a daunting task, especially when we
consider that there are millions of species on Earth to observe, from invisible microbes
to mighty redwood trees over 100 m tall.

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A UNITY AND DIVERSITY Organisms

How can we classify organisms? There are countless possible ways; a few examples are
listed below.

• By feeding habits: it makes its own food/it is a carnivore or herbivore.


• By habitat: land-dwelling/aquatic.
• By movement: sessile (stuck in one place)/free moving.
• By daily activity: nocturnal/diurnal.
• By risk: harmless/venomous.
• By anatomy: plant/animal/vertebrate/invertebrate.

We generally start by categorizing organisms based on morphology (the physical


appearance of an organism). Is the organism made of a single cell without a nucleus, or
does it have a nucleus? If it has a nucleus, is it single-celled or multicellular? Think of
these categories as boxes into which the organisms are placed. Each category is called a
taxon (plural taxa). The biggest taxa are very broad and encompass many species, but
as the defining features used become more and more detailed and specific, smaller and
smaller boxes are used, containing fewer and fewer species per taxa, until we arrive at a
single species. The largest taxon is a “domain” and it contains all the more specific taxa,
from “kingdom” down to “species”.

Table 1 illustrates the identification of two species from very different kingdoms: one
species is an animal, humans, and the other is a plant, garden peas. The science and skill
of categorizing life is called taxonomy and specialists who do it are called taxonomists.

The garden pea (Pisum Taxa Human Garden pea


sativum) is the plant Gregor
Kingdom Animalia Plantae
Mendel studied.
Phylum Chordata Angiospermophyta
Class Mammalia Dicotyledoneae
Order Primate Rosales
How do species Family Hominidae Papilionaceae
exemplify both Genus Homo Pisum
continuous and
discontinuous patterns Species sapiens sativum
of variation?
A3.1 Table 1 The classification of two species

To help remember the


order of the taxa, a
mnemonic (memory
trick) is helpful. Make
a sentence using the
first letters of each The variations in characteristics for sorting species into their designated taxon might
level, such as “King be obvious (plants have leaves and roots, whereas humans have limbs and a head), but
Philip Came Over
can sometimes be very subtle. Two species of frog might look identical on the outside
For Good Soup”.
The human brain is but can be distinguished by different mating calls. In such a case, the patterns of
very poorly adapted variation in morphology are not sufficient for classification.
for remembering
lists of words but When variation can be placed into distinct categories (type A blood versus type B, for
very highly adapted example), we say it is discontinuous. When variation has a wide range of possibilities
for remembering
(how tall a tree can grow, for example), we say it is continuous. Sometimes we impose
stories. Transforming
lists into stories is a categories such as eye colour as if it is an example of discontinuous variation when, in
good example of a fact, a hundred people who have blue eyes will show a certain amount of continuous
mnemonic. variation, from deep blue to very light blue.

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Diversity of organisms A3.1
A3.1.2 – Species as groups of organisms
A3.1.2 – Species as groups of organisms with shared traits
This is the original morphological concept of the species as used by Linnaeus.

Carolus Linnaeus, an 18th century professor of medicine and botany in Sweden, had
difficulty identifying the plants he found on his travels because different botanists used
different systems for naming them. This made it difficult to categorize the organisms.
Linnaeus then had a remarkable idea: what if we take all the known living organisms,
put them into categories, and give them a name using a uniform system? Not just
plants, but animals, too. By creating the names using Latin or Greek, no matter what
anyone calls the organism in their native language (such as Swedish), it will always have
a universally known name.

Linnaeus based the classification system, as well as the names, on the physical features
of the organisms. This morphological classification, first published in his book
Systema Naturæ in 1735, was used by generations of botanists and zoologists, and the
naming system he created is still used today. Thousands of organisms still carry the
scientific name that Linnaeus gave them over two-and-a-half centuries ago, such as the
Asian elephant, which he named Elephas maximus in 1758.

A3.1.3 – The binomial naming system


A3.1.3 – Binomial system for naming organisms
Students should know that the first part of the name is the genus, the second part of the name
is the species. Species in the same genus have similar traits. The genus name is given an initial
capital letter but the species name is lowercase.

You have a scientific name based on your species: Homo sapiens. This system of naming
organisms using two names is called binomial nomenclature. “Bi” means two,
“nomial” means name and “nomenclature” refers to a system used to name things.

Myrmecophaga tridactyla is a name that literally means “eater of ants” plus “with three
fingers”. This name refers to the giant anteater of Central and South America. In fact, In the early days
of classification, all
the animal really has five fingers, but they are hard to see because the animal walks on
known organisms
its front knuckles. were classified into
only two kingdoms:
plants and animals.
With the invention
of the microscope in
the mid-1600s, many
new creatures were
discovered that were
nothing like plants or
animals. In effect, the
microscope revealed
that there is an entire
world of invisible
organisms living
throughout the world’s
ecosystems.
The giant anteater (Myrmecophaga tridactyla).

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A UNITY AND DIVERSITY Organisms

The first name in the binomial nomenclature system is always capitalized and it
refers to the genus; the second name always begins with a small letter and refers
to the species. Both are always written in italics when typed, or underlined when
written by hand. Organisms in the same genus will have a higher number of similar
characteristics compared to organisms in a different genus.

There are three main objectives and associated rules to using binomial nomenclature:

1. each organism has a unique name that cannot be confused with another
organism
2. the names can be universally understood, no matter what nationality or
culture is using the name
3. there is some stability in the system, so that people cannot change the names
of organisms without valid reasons.

Examples of binomial nomenclature


Sometimes scientific names for organisms are relatively easy to decipher because they
contain their common names:

Homo sapiens • Amoeba amazonas


• Equus zebra
• Gekko gecko (this lizard gets its name from the sounds it makes)
Genus species • Gorilla gorilla
• Paramecium caudatum (caudate means having a tail).
The rules about writing
binomial nomenclature Sometimes, it is more difficult to guess their common name:
names are that:
• the genus name is • Apis mellifera (honeybee, although you might have guessed this if you know that
capitalized but the beekeeping is also called apiculture)
species name is not
• both are written in • Aptenodytes patagonicus (king penguin, although you can probably guess where it
italics when typed, lives from its species name)
or underlined when • Loxodonta cyclotis (African forest elephant)
handwritten. • Malus domestica (apple tree).

Scientists naming organisms sometimes have a sense of humour. Here are some examples.
In taxonomy, there • Agra schwarzeneggeri Erwin, 2002. This Costa Rican ground beetle was named after Arnold
are two opposing Schwarzenegger because of the insect’s large biceps.
philosophies • Dracula vampira Luer, 1978. This orchid in Ecuador got its name from the fact that the
concerning what to petals on the flower look like a bat’s wings
do when an organism
does not fit easily into
existing categories: (1)
broaden the definition Challenge yourself
of an existing category
1. Look up the following to find out what their scientific names are:
to include the new
organism; or (2) invent • your favourite animal
a new category or
subcategory. Specialists • your favourite fruit or vegetable
who take the first • your favourite flower, tree or house plant.
approach are referred
to as lumpers, while
those who take the
second approach are
referred to as splitters.

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Diversity of organisms A3.1
A3.1.4 – Biological species
A3.1.4 – Biological species concept
According to the biological species concept, a species is a group of organisms that can breed
and produce fertile offspring. Include possible challenges associated with this definition of a
species and that competing species definitions exist.

Another definition of a species that is now often preferred over Linnaeus’


morphological definition is the biological species concept. This was proposed by
Ernst Mayr in 1942. Using this definition, in order to be classified as the same species,
individuals must be able to breed together and produce fertile offspring. All modern
dogs, Canis familiaris, can interbreed to produce fertile offspring, so they are considered
to be one species.

Not every biologist is happy with this definition, however. How can this definition
apply to organisms that reproduce asexually and therefore do not breed? Hybrids
produced from parents of closely related but separate species are usually infertile,
but not always. Some species are made up of a mosaic of DNA from multiple species.
How should they be classified? Should they receive multiple species names if they are
composed of more than one? How can we apply the concept to extinct species such as
velociraptors when we cannot know from skeletons whether members of a population
could interbreed?
All domestic dogs are of the
Depending on which expert you ask, there are dozens of definitions of the word same species.
“species”. We have discussed two so far: the morphological definition used in the
18th century, and a more recent definition, the biological species concept, involving
the ability to breed and produce fertile offspring. But other characteristics can
also be taken into account when deciding on what counts as a species, such as the
following.

• The ecological niche of an organism. Because microbes are single-celled, it is


challenging to use just morphology to determine what species they belong
to. Where they live and what they eat can help classify microbes into different
species.
• Genetics. When a sequence of DNA found in a sample of soil from a forest does
not match any known sample, it suggests that it is from a species that has not
been catalogued yet.
• The types of molecules an organism can produce. This is also useful when
classifying microscopic organisms that do not have easily observable features,
unlike birds and primates, for example. It is common to find microbes that
produce carbon dioxide, but some can make methane or hydrogen gas.
• For extinct species, their lineage. If we find a fossil of an extinct snail that has
a shell similar to a modern species, we can use the similarities to assign it a
species name based on its position on the same part of the evolutionary tree as
the existing species.

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A UNITY AND DIVERSITY Organisms

Microscopic soil organisms


can be challenging to identify
because morphology is
insufficient as a criterion to
differentiate species.

Nature of Science
To some extent, the debate about what a species really is becomes just as
philosophical as biological. “Is all we are doing simply naming things?”
“Do the categories we use actually exist in reality or just in our minds?” “Is the
difficulty of agreeing on a definition a fault of the limitations of language?”
“Is it possible to use the same term (species) for organisms that exist today
and to express how their populations evolved over time?” These questions
are currently being debated by biologists and, because the variety of life is so
diverse, it is difficult to find a consensus.

A3.1.5 – Distinguishing between populations and


species

A3.1.5 – Difficulties distinguishing between populations and species due to


divergence of non-interbreeding populations during speciation
Students should understand that speciation is the splitting of one species into two or more. It
usually happens gradually rather than by a single act, with populations becoming more and
more different in their traits. It can therefore be an arbitrary decision whether two populations
are regarded as the same or different species.

Speciation, as explored in more detail in Chapter A4.1, is the process by which a


population is separated into two groups that can no longer reproduce together. One
part of the population evolves one way and the other, living with different selection
pressures and producing different sets of mutations, evolves in a different way. The two
populations become different enough over time that they can no longer interbreed to
produce fertile offspring. As a result, a new species has branched off from the previous
one, resulting in two species that have a common ancestor.

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Diversity of organisms A3.1
Lake Victoria in East Africa is, geologically speaking, a young lake, being only about
400,000 years old. Any fish species that live there have arrived since then. African
cichlid fishes, of which there are over 200 species in the lake, all appear to have evolved
from a single species introduced about 200,000 years ago. Each one has evolved
in its own niche and as a result split off from the others. Some specialize in eating
algae, some eat plankton and others eat snails. But each split would have taken many
generations and, during those generations, the population that started to explore
the new source of food would have continued to interbreed with some success with
the original population. As the two populations became more different from each
other, the success rates of interbreeding would have diminished until it was no longer
possible. It is difficult for specialists to decide when the speciation occurred. When a
cut-off point is chosen, it has an arbitrary and subjective aspect to it.

The last woolly mammoth became extinct thousands of years ago. It appeared to share
many similar characteristics with today’s Asian elephants (Elephas maximus), which
is why it was originally classified in 1799 in the same genus, as Elephas primigenius.
Because of the gap in time, it is difficult to apply the biological species concept to
decide whether or not the two populations are one and the same species, because there
are no living mammoths to test the hypothesis by breeding them with elephants. The
mammoth’s scientific name has since been changed to Mammuthus primigenius, without What might cause a
knowing for sure whether they could breed together or not, so it is a relatively arbitrary species to persist or go
decision from the point of view of the biological species concept. extinct?

A B C D

speciation split

lineage of
common ancestor
The woolly mammoth went extinct thousands of years ago. We cannot test whether it was able to
breed with modern elephants or not.
A3.1 Figure 1 Species A,
Figure 1 shows a common ancestor giving rise to four species. The first speciation event B, C and D evolved from a
shown happened earlier in time, then the split that generated species B occurred, and, common ancestor. Three
finally, D split from C. Although this type of diagram helps illustrate the sequence of events, speciation splits led to the
generation of these species,
it gives the impression that the splits occurred suddenly, which is not always the case.
the first of which is circled.

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A UNITY AND DIVERSITY Organisms

A3.1.6 – Diversity in chromosome numbers


A3.1.6 – Diversity in chromosome numbers of plant and animal species
Students should know in general that diversity exists. As an example, students should know
that humans have 46 chromosomes and chimpanzees have 48. Students are not required to
know other specific chromosome numbers but should appreciate that diploid cells have an
even number of chromosomes.

Diploid and haploid cells


The term diploid is used to describe a nucleus that has chromosomes organized into
homologous pairs. Most cells in the human body are diploid cells, and in such cells the
nucleus contains a set of 23 chromosomes from the mother and 23 from the father.
There is a category of cells that only contain 23 chromosomes in total: the sex cells, also
called gametes. Because the chromosomes in sperm and egg cells do not come in pairs,
but rather only have a single chromosome from each pair, they are said to be haploid.
The adult form of animal cells is rarely haploid, but there are exceptions, for example
adult male bee, wasp and ant cells are haploid. Generally speaking, the vast majority of
cells in sexually reproducing organisms are diploid, and only the gametes are haploid.

Note in Table 2 that The variable n represents the haploid number, and it refers to the number of sets of
diploid cells always chromosomes that a nucleus can have. For a human egg cell, n = 23. When an egg
have an even number cell is fertilized by a sperm cell (a sperm is also haploid and therefore contains 23
of chromosomes. This chromosomes), a zygote is formed and the two haploid nuclei fuse together, matching
is logical because one
chromosome in each
up their chromosomes into pairs. Hence humans generally have a total of 23 + 23 = 46
pair comes from one chromosomes. This means that in humans, 2n = 46, so diploid cells in humans have 23
parent and the other pairs of chromosomes making a total of 46 chromosomes. Compare this number with
from the other parent. some of the other species in Table 2.

A3.1 Table 2 A comparison Types of cells and chromosome numbers


of types of cells and Species Haploid = n Diploid = 2n
chromosome numbers
Human (Homo sapiens) 23 46
Chimpanzee (Pan troglodytes) 24 48
Domestic dog (Canis familiaris) 39 78
Rice (Oryza sativa) 12 24
Roundworm (Parascaris aquonum) 1 2

The number of chromosomes is a characteristic of a


species
As you can see from Table 2, the number of chromosomes for humans (46) is very
different to the number of chromosomes for the roundworm. One of the best-studied
worms in genetics laboratories is Caenorhabditis elegans, whose genome was first
sequenced in 1998. It has six chromosomes, meaning its diploid number, 2n, is 6, and
therefore its haploid number, n, is 3. It would be expected that all the cells in C. elegans
would have six chromosomes, and, likewise, that all cells in humans would have 46.
Although this is true for most cells, we have already seen the exception of haploid cells
(n). Note as well that some cells do not contain a nucleus and have no chromosomes,
such as red blood cells.

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Diversity of organisms A3.1
A3.1.7 – Karyotypes
A3.1.7 – Karyotyping and karyograms
Application of skills: Students should be able to classify chromosomes by banding patterns,
length and centromere position. Students should evaluate the evidence for the hypothesis that
chromosome 2 in humans arose from the fusion of chromosomes 12 and 13 with a shared
primate ancestor.
NOS: Students should be able to distinguish between testable hypotheses such as the origin of
chromosome 2 and non-testable statements.

A karyogram is a representation of the chromosomes found in a cell arranged


according to a standard format, as in the example in Figure 2. The chromosomes are
placed in order according to their size and shape. The shape depends mainly on the
position of the centromere. A karyogram is used to show a person’s karyotype,
which is the specific number and appearance of the chromosomes in their cells.

nucleus
Chromosomes are made of very long
DNA molecules. Each chromosome
contains many smaller sections called
genes. Genes are made of DNA.

Chromosomes are found in the


nuclei of cells. Humans have 46
chromosomes, in 23 pairs. For
simplicity, the diagram above
only shows 12 pairs.

Zooming into a cell reveals where DNA is found.

A3.1 Figure 2 This is a


karyogram showing all 23
pairs of chromosomes. What
can we learn about the
individual’s karyotype from
this figure? This karyogram
was prepared using false-
colour imagery.

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A UNITY AND DIVERSITY Organisms

You can use online


How is a karyogram image obtained? Once the cells of an organism have been
tools to prepare collected and grown in culture, a karyogram is made following the steps below.
your own karyogram
by arranging 1. The cells are stained and prepared on a glass slide, to see their chromosomes
chromosomes by under a light microscope.
size, banding patterns
and the position of 2. Photomicrograph images are obtained of the chromosomes during a specific
the centromere. The phase of cell division called the mitotic metaphase (see Chapter D2.1).
website Learn.Genetics
from the University 3. The images are cut out and separated, a process that can be done using a print
of Utah has an out and scissors or on a computer.
activity called “Make
a karyotype”, for
4. The images of each pair of chromosomes are placed in order by size and
example. Once the position of their centromeres. Generally speaking, the chromosomes
you have made a are arranged in order by decreasing length. The exception is in the 23rd pair
karyogram, you can of chromosomes, which can contain one or two X chromosomes, which
learn certain details
about the person. Use are considerably larger than the chromosomes in the 22nd pair (see the
the karyogram in Figure chromosome pair marked X in Figure 2). In addition, the coloured bands that
2 to determine whether show up in the image can be used to identify which chromosome it is. For
the individual is a male
or a female. How do
example, chromosomes 3 and 4 in the image show very different banding
you know? Does the patterns.
individual’s karyotype
include any anomalies?
If so, describe what you The evolution of human chromosome 2
see. For more about Modern humans have 46 chromosomes. Other human species that no longer exist
the consequences
of extra or missing but whose preserved fossil DNA we can study, such as Neanderthals and Denisovans,
chromosomes, see also had only 46 chromosomes. Gorillas and chimpanzees are the species most closely
Chapter D2.1. related to humans. Our last common ancestor with gorillas existed about 9 million
years ago and the speciation split with chimpanzees occurred about 6 million years
ago. However, when we prepare a karyogram of the contents of their nuclei, both
gorillas and chimpanzees have 48 chromosomes instead of 46. If we shared a common
ancestor with them, what happened to our chromosome number?

Two possible hypotheses can be formulated:

1. a complete chromosome disappeared


2. two chromosomes from an earlier common ancestor fused to become a single
chromosome.

It is unlikely that an entire chromosome was deleted and disappeared, because


removing hundreds of genes in that way would cause a major threat to the viability of
the species. To test the second hypothesis, we can look for evidence, and can start by
examining the two characteristics that help identify a chromosome: its shape (position
of the centromere) and its banding patterns. One shape a chromosome can have is
the “X” shape, with the centromere close to the centre. This is called a metacentric
chromosome. Chromosomes can also have an acrocentric shape, meaning the
centromere is at one end, making one arm of the chromosome much shorter and the
other much longer. All primates have both types.

One hypothesis is that chromosome 2 in humans arose from the fusion of


chromosomes 12 and 13 in a shared ancestor. In an article from Molecular Cytogenetics
by Paweł Stankiewicz in 2016, human chromosome 2 was compared to chimpanzee

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Diversity of organisms A3.1
chromosomes 12 and 13. In terms of shape, these two acrocentric non-human
chromosomes, when placed end to end, have a similar length to the human
chromosome, although some parts overlap. The position of the centromere in
human chromosome 2 lines up with the chimpanzee chromosome 12 but not with
chromosome 13. This latter piece of evidence refutes the hypothesis. However, in
the zone marked B on the human chromosome in Figure 3, we find the type of DNA
we usually encounter in the centromere, known as satellite DNA, which consists
of short repeating sequences of DNA. This zone corresponds to the position of the
centromere in the non-human chromosome 13, giving credibility to the hypothesis.
In terms of banding patterns, the long arm of chimpanzee chromosome 12 matches
that of the short arm of human chromosome 2, and the long arm of chimpanzee
chromosome 13 matches the banding patterns of the long arm of human
chromosome 2.
chimp
12 A3.1 Figure 3 A
comparison of human
chromosome 2 with
chimpanzee chromosomes
12 and 13.

B
When asked to
evaluate evidence
for a claim, scientists
and students need to
express their opinion
of whether or not the
evidence is sufficient to
convincingly confirm
human chimp the claim. Some
2 13 questions to consider
asking are:
• Is the quantity of
Besides shape and banding patterns, other evidence to support the idea of fusion is the evidence sufficient to
accept the claim?
presence of telomeric DNA in the centre of human chromosome 2. The telomeres • Has the method for
are caps at the tips of chromosomes that contain repeating sequences of DNA and collecting evidence
provide protection, the same way that bumpers protect cars and aglets protect the been repeated and
tested by other
ends of shoelaces. Such repeating telomeric DNA is not supposed to be in the centre scientists, and have they
of chromosomes, only at the tips. And yet, at position A in the human chromosome found similar evidence?
2 shown in Figure 3, telomeric DNA is present at the position where the two • Is the method being
chromosomes would have fused. used a reliable method?
• Are any counterclaims
or refuting evidence
It is very important to understand that this evidence does not say we descended
enough to doubt the
from chimpanzees. The fusion of the chromosomes would have happened after the claim?
speciation split of a common ancestor that led to the evolution of chimpanzees on one • Is there a mechanism
branch of the tree of life and the evolution of humans on another branch. to explain the cause, or
is what we are seeing
just a coincidence?

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A UNITY AND DIVERSITY Organisms

Nature of Science
Some claims are testable and others are not. The hominid fossil nicknamed
Lucy, discovered in Ethiopia in 1974, is complete enough to test and confirm
claims such as (1) she was a female, (2) she was not a modern human but
rather an australopithecine, (3) she could walk on two legs and (4) she lived
about 3.2 million years ago. There might be some debate about the details,
but the challenges can also be tested. Can you think of any claims about her
that would not be testable? For example: “Lucy had a great sense of humour.”
“Lucy had a recurring dream where she encountered a wildcat.” “Lucy spoke
three languages.” Current tools in science have no way of testing these claims.
Statements like these are speculation. What about these: “Lucy had very
little meat in her diet.” “Australopithecines such as Lucy had strong spiritual
beliefs.” Are they testable claims?

Some claims about the fossil


called Lucy are testable and
others are not.

A3.1.8 – Unity and diversity of genomes


A3.1.8 – Unity and diversity of genomes within species
Students should understand that the genome is all the genetic information of an organism.
Organisms in the same species share most of their genome but variations such as single-
nucleotide polymorphisms give some diversity.

It seems counterintuitive, but it is possible to find lots of evidence to support the claim
“we are all the same”, and it is also possible to find lots of evidence to support the
claim “we are all different”. From a genetics point of view, humans share many more
similarities than differences with each other, especially compared to another species.

If a chimpanzee was walking down your street, you would recognize right away
that it was a non-human primate. And yet, the genetic difference between us and
chimpanzees is only about 4%. That is a much bigger difference, however, than
between you and other humans, which is estimated to be 0.1% to 0.6%. Why does
Homo sapiens display so many similarities within its global population? Our unity arises

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largely from the fact that all humans share the same genes. We do not all have the same
versions of each of the genes (called alleles, see Chapter D3.2); some of us have type B
blood and some have type O, for example. But we all possess the genes that determine
the ABO blood type.

Where do we find these small but crucial differences between humans? The estimated
3 million to 20 million base pairs (e.g. A–T or G–C) of our DNA sequence that can
reveal the differences are found scattered all over our chromosomes. Where most
people have a T (thymine) nucleotide, for example, a small portion of humans might
have a G (guanine) instead at that position. Such variations can start out as mutations
(see Chapter D1.3) but are then passed down from generation to generation. Such
a variation involving only one base is called a single nucleotide polymorphism
or SNP (see Figure 4). It is estimated that about every 100 to 300 bases in a human’s
genetic code contains an SNP. Geneticists interested in the human genome have
identified millions of SNPs, and they can be used to help determine ancestry or risk of
genetic diseases.

C T
G normal
person 1 A C protein Some DNA variations
have no negative effects
on protein structure and
function.
C T
T
person 2 A C

SNP
low or non-functioning
T protein
A C
A C Other variations lead to
person 3 genetic disease (e.g.
sickle cell) or increased
SNP susceptibility to disease
(e.g. lung cancer).

A3.1 Figure 4 Person 1 has a gene that expresses a normal protein. Person 2 has a T (thymine)
nucleotide instead of a G (guanine) in the SNP, but also expresses a normal protein. Person 3, however,
has an SNP that causes the protein to not form correctly. In the 1997 science
fiction film GATTACA,
Only about 5% of SNPs are functional, meaning they actually produce a difference one of the main
in a person’s body. Most are neutral, meaning that they will not affect a person’s characters brings a
phenotype (the physical expression of a gene, such as blood type or colour vision, see sample of cells to a
walk-up window at
Chapter D3.2).
an establishment that
provides anonymous
The Human Genome Project genome services.
Within seconds, she
In 1990, an international cooperative venture called the Human Genome Project set gets a full printout and
out to sequence the complete human genome. Because the genome of an organism is a analysis of the genome
catalogue of all the bases it possesses, the Human Genome Project hoped to determine she is interested in.
the order of all the bases A, T, C and G in human DNA. As there were approximately How far are we from
being able to do this
3,200,000,000 to find, it took over a decade. In 2003, the Project announced that it had today? What ethical
succeeded in achieving its goal. Now, scientists are working on deciphering which implications are there
sequences represent genes and which genes do what. The human genome can be to such a service? Are
thought of as a map that can be used to show the position of any gene on any one of there laws protecting
your genome?
the 23 pairs of chromosomes.

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Thanks to modern
The current estimate is that humans have approximately 22,000 genes, and, thanks to
communication advances in technology, the sequencing of a person’s genome can be done in hours
technologies, it is instead of years.
possible for scientists
working all over the Many companies offer genome sequencing for private citizens willing to pay the price. Some
world to collaborate of the products reveal ancient family origins and risk factors for some health problems, such
and contribute to a as the chances of developing certain types of cancer or heart disease. Would you want to
scientific endeavour know if there is a chance that your life could be suddenly shortened by the presence or
such as sequencing the absence of a certain gene? Would you tell your family and friends? Would you want your
genome of plants that parents to have such a test? Should people tell their employer or each other about any
help feed the world. health-related issues revealed by a genomic analysis? Or, in contrast, is this a private, personal
Rice is one example: thing that no one else needs to know about? How accurate and reliable are these analyses?
biologists from 10 Should we believe everything they say? Does all knowledge impose ethical obligations on
countries contributed those who know it?
to sequencing the first
rice genome.

A3.1.9 – Eukaryote genomes


A3.1.9 – Diversity of eukaryote genomes
Genomes vary in overall size, which is determined by the total amount of DNA. Genomes
also vary in base sequence. Variation between species is much larger than variation within a
species.

No humans have genes for characteristics such as bioluminescence (glowing in the


dark), which many deep-sea organisms do. Although we see some diversity among
humans, we do not see such huge ranges of diversity in the human population as
wings for flight, gills to breathe underwater, echolocation organs for seeing without
light, chloroplasts for photosynthesis, and so on. There is more unity within the
human species (comparing any two humans) than diversity compared to other species
(comparing humans to non-humans).
Humans are a diverse global
population but there are
remarkably few differences
between any two humans
compared to differences
between humans and other
species.

One major difference between genomes is their size: the quantity of DNA they have
in their nuclei. As we will see in Section A3.1.10, some eukaryotic genomes only have
a few thousand genes while others can have tens of thousands of genes. This means
that one eukaryote will possess genes that another will not have at all. A fish does not

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need to have genes to produce pollen, and a rose bush does not need genes for making
fins to swim. Even with closely related species that have undergone a relatively recent
speciation split, they have been evolving separately to the point where the genes are
now different enough that they cannot interbreed anymore.

Such differences can be seen in the sequences of base pairs in each genome.
Sequencing technology along with databases and computer programs for searching
and comparing large data sets have allowed biologists to compare the genomes of
organisms from all over the world.

Bioinformatics is a research field that uses both computer science and information
technology to help us understand biological processes. Bioinformatics has grown
exponentially in recent years. The most data-rich area of bioinformatics is genomics.
Genome data is now available in public databases such as The National Center for
Biotechnology Information (NCBI). Genetic information can also be explored using
the following databases:

• Swiss-Prot, a database of protein sequences


• Ensembl, a database and browser of genomic information about humans and
other vertebrates
• GenBank, a National Institutes of Health genetic sequence database that is an
annotated collection of all publicly available DNA sequences.
A micropipette containing
a DNA sample can be
sequenced and added to
a database and shared
worldwide thanks to
web-based information
technology.

Instead of sifting through the entire genome of an organism, one way to compare
genetic diversity in eukaryotes is to focus on their mitochondrial DNA. All
eukaryotes have mitochondria, and the way mitochondrial DNA, present only in the
egg, not in the sperm cell, is passed down from mother to offspring, means there is
not the shuffling and mixing that we see in chromosomal DNA. It is estimated that,
within a species, roughly 1 in 1,000 of the genetic code letters is different between
individuals’ mitochondrial DNA. These genetic differences are expressed in the amino
acid sequence that is coded for by the organism’s DNA sequence. To see differences
between individuals within a species, or to see differences between species, it is
possible to look up the amino acid sequences for a particular gene in a database and
match them to see if there are amino acids missing, added or modified. Instead of the
DNA bases A, T, C and G being displayed, the letters in the databases correspond to
the 20 possible amino acids, such as S for serine, G for glycine, A for alanine and V

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for valine. Some amino acids have a letter that is different from their first letter, such
as E for glutamic acid, F for phenylalanine and K for lysine. You will not be asked to
memorize the 20 amino acid names and their letters, but you do need to understand
that, when comparing genetic differences, it is possible to either use the DNA code or
the amino acid sequences.

Table 3 shows part of the sequence for a single gene selected from the online UniProt
protein database. The chosen gene is one that all eukaryotes have in their DNA: cyc1,
the gene for cytochrome c, which is a protein needed by mitochondria to perform
their essential task of cellular respiration, to convert sugar into usable energy. Of the
A3.1 Table 3 Comparing a
short sequence of 60 amino hundreds of species available in the database, four species of animal were selected and,
acids from the mitochondrial rather than looking at all the amino acids that the gene codes for, a short sequence of
gene, cyc1, for cytochrome c, 60 amino acids was selected for comparison. The differences between the first species
in four species
and the three other species are highlighted in yellow.

Database codes for specific species Fragment of the sequence of amino acids coded for in the cyc1 gene
golden-crowned babbler:
TR|A0A7K9SBC6|A0A7K9SBC6_9PASS SL--ALALSLGGGPLSAGELELHPPNFPWSHGGPLSALDHASVRRGFQVYRQVCSACHSM
brown-headed cowbird:
TR|A0A7L3VSC4|A0A7L3VSC4_MOLAT SLAVALSLSLGGGPVSAGELELHPPGLPWSHGGFLSALDHASVRRGFQVYRQVCSACHSM
green anole:
TR|H9GCG1|H9GCG1_ANOCA GLAVALH-----SAVSAGELELHPPSFPWSHSGPLSSLDHSSVRRGYQVYKQVCSACHSM
big-headed turtle:
TR|A0A4D9DRJ9|A0A4D9DRJ9_9SAUR GLALALH-----TAVSASDLELHPPSYAWSHNGLLASLDHSSIRRGYQVYKQVCAACHSM

The first organism in Table 3 is a bird, the golden-crowned babbler (Sterrhoptilus


dennistouni), which lives in the Philippines. The next three organisms in Table 3 are a
brown-headed cowbird (Molothrus ater), a lizard called a green anole (Anolis carolinensis),
and a big-headed turtle that lives in Southeast Asia (Platysternon megacephalum). If we
look at the first amino acid in the sequence for the first species, we see S, for serine.
Moving down the second column in Table 3, we see that species 2 also has an S but
species 3 and 4 have G for glycine instead. Species 1 does not have any amino acids at
positions three and four, while the other three do. Of those three, they all have A for
alanine in the third position but not all have V for valine in the fourth.

Not surprisingly, compared to the first bird’s sequence, there are more differences in
the lizard and in the turtle than there are in the other bird species, because the two
bird species are more closely related to each other than they are to lizards and turtles.
If we looked at the whole amino acid sequence and not just the fragment of 60 amino
acids used for Table 3, we would see that the three species in Table 3 have the following
percentage of matches with the golden-crowned babbler: 92.9%, 84% and 76.8%,
respectively.

Between any two golden-crowned babblers, we would expect more than 99% of the
amino acid sequence to be identical, with only one difference every few hundred
amino acids. This illustrates that there is much more diversity between organisms in
different species compared to organisms within the same species.

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The Human Genome Project has shown that there are only a very small number of DNA
bases that make one person different from any other person in the world. This creates a
feeling of unity. All humans carry inside them a common genetic heritage.
On the other hand, the Human Genome Project has shown that the small differences that
do exist make each person unique in terms of skin colour, facial features and resistance to
disease, for example. These differences should be appreciated and celebrated as strengths.
Unfortunately, they are often the basis of discrimination and misunderstanding.
Can one group of people be considered genetically superior to another? History has
shown that many people think so, yet genetics shows that this is not the case. All human
populations, whatever slight differences their genomes may have, deserve equal esteem as
human beings.

A3.1.10 – Genome sizes


A3.1.10 – Comparison of genome sizes
Application of skills: Students should extract information about genome size for different
taxonomic groups from a database to compare genome size to organism complexity.

Using online tools, it is possible to compare the genome of an organism, such as a fruit
fly, with other eukaryotes. Table 4 shows data extracted from the NCBI database at the
time of writing; because the database is being continually updated, the numbers you
find might be different.

Species Genome size in millions of base A3.1 Table 4 A comparison


pairs, Mb of genome sizes of various
organisms
Saccharomyces cerevisiae, baker’s yeast 12.1
Drosophila melanogaster, fruit fly 143.7
Mus musculus, house mouse 2,500
Escherichia coli, bacterium 5.12
Homo sapiens, modern human 3,200
Neoceratodus forsteri, Australian lungfish 34,557.6
Plasmodium falciparum, a parasite that causes malaria 22.9
Oryza sativa, rice 420
Caenorhabditis elegans, a nematode worm 100

Escherichia coli, a bacterium


that likes to live in your large
intestine, has about 5 million
letters (base pairs) in its DNA
code.

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Do you get the impression that the more complex an organism is, the bigger its
genome is? For example, we think of humans as being extremely complex and
advanced, so when we compare ourselves to the fungus in Table 4, the baker’s yeast,
we see that our genome size is hundreds of times bigger. But rice has only three times
more DNA than the fruit fly. And when we compare our human genome size to the
Australian lungfish, it is ten times smaller. Does that mean lungfish are more complex
than we are or that we are more complex than yeast? It depends on our definition of
complex. Although they may not be capable of doing creative and complex tasks such
as sending a spaceship to Mars, both lungfish and yeast can survive in conditions in
which humans would die. The examples given and the ones you can find on your own
will often give the impression that genome size can indicate complexity, but there are
enough exceptions to conclude that it is not a reliable indicator.

A3.1.11 – Whole genome sequencing


A3.1.11 – Current and potential future uses of whole genome sequencing
Include the increasing speed and decreasing costs. For current uses, include research into
evolutionary relationships and for potential future uses, include personalized medicine.

Researchers are very excited about genome sequencing because it allows them to
identify species and compare them to see evolutionary relationships. They can
compare whole genome sequences to see how organisms are related to each other.
Such a technique is known as phylogenetics. In general, organisms that share similar
genomes tend to be more closely related than those that do not.

In Figure 5, the mouse is shown to be much more closely related to the chimpanzee
than to the salamander. The DNA sequences (or corresponding amino acid sequences)
of the mouse and the chimpanzee would show fewer differences between each other
than if one of their DNA sequences was compared to the salamander’s genome. In
humans, it can tell us about our ancestry, and about possible health risks related to the
genes we have inherited.
A3.1 Figure 5 A phylogenic hagfish salamander pigeon mouse chimp
perch lizard
tree of vertebrate chordates.

feathers

fur,
mammary
glands

claws or
nails
lungs

jaws

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Thanks to next-generation sequencing techniques, which use a mix of laboratory
hardware, chemical markers and powerful software to increase the speed and decrease
the cost of sequencing people’s genomes, it is possible for private citizens in some
countries to get their genomes sequenced. Other countries have made it illegal to
request genome sequencing: laws have been put in place to protect people’s privacy.
A parent who has put up a child for adoption and does not wish to be identified, for
example, might have their identity revealed by this technology even if they do not have
their own genome scanned, because a close relative’s genome might be sufficient to
find the match. In other countries, such services are fully legal and gaining popularity.
Several companies in the United States offer genomic testing and provide detailed
reports about ancestry and possible health issues related to DNA.

One potential such sequencing holds is the concept of personalized medicine,


sometimes called precision medicine: information about a person’s genetic makeup
can be applied to an individual when prescribing treatments. The premise is that, if
doctors know a patient’s DNA profile, the best adapted treatment can be prescribed.
When a doctor prescribes a drug today, the choice of molecule and the dose is based
on studies involving people who might not be representative of everyone’s genetic
makeup. By sequencing the genomes of the participants in drug trials, patterns can
be identified that suggest one drug might work better with people who possess a
particular genetic sequence, but that for others, another molecule, combination of
drugs or different dose would provide better results or perhaps fewer side effects.

t t T t T T T t A3.1 Figure 6 Knowing


that a particular medication
produces severe side effects
only in people who receive
the t version of an identified
gene from both parents (tt)
T t T T T t T t would allow doctors to know
that four people in this group
of patients should not be
prescribed that medication.
All the other patients have
received a T from at least one
parent (they are either TT or
T T t t T t T t
Tt) and can benefit from the
medication without severe
side effects.

t t T t T T t t

Personalized medicine is better adapted for diseases that are dynamic, such as cancer,
type 2 diabetes or cardiovascular disease, and require different treatments at different
stages of the illness. Knowing more about how a patient’s genome might cause
new proteins to be produced in their cells or trigger certain genes to be turned on
or off could lead to breakthroughs in medical treatments. By creating databases of
biomarker profiles within a population (such as TT, Tt or tt in the example in Figure
6), researchers of personalized medicine hope to provide better diagnoses and more
effective treatments with fewer undesirable side effects.

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Another advantageous use of the human genome is the production of new


medications. This process involves several steps:

• find beneficial molecules that are produced naturally in healthy people


• find out which gene controls the synthesis of a desirable molecule
• copy that gene and use it to instruct synthesis of the molecule in a laboratory
• distribute the beneficial therapeutic protein as a new medical treatment.

This is not science fiction: genetic engineering firms are finding such genes regularly.
One current line of research is dealing with genes that control ageing. How much
money do you think people would be willing to pay for a molecule that could reverse
the effects of ageing and prolong life by several decades?

HL

A3.1.12 – Difficulties with the biological species


concept
A3.1.12 – Difficulties applying the biological species concept to asexually
reproducing species and to bacteria that have horizontal gene transfer
The biological species concept does not work well with groups of organisms that do not breed
sexually or where genes can be transferred from one species to another.

Insects usually reproduce by having males fertilize the eggs of females. The females
of certain stick insects in the genus Phasmatodea, however, can often produce young
without mating with a male. The eggs mature and grow into adult females. This
process is called parthenogenesis. A similar process happens in plants called
vegetative propagation, such as when a strawberry plant sends out a runner that
takes root near the original plant. Farmers can plant last year’s potatoes in their fields
to grow new potato plants from them. In such cases, each new plant is an identical
copy of the parent plant. This could continue for many generations without the need
for sexual reproduction. These generations are continuing to produce offspring but
they are not doing it by breeding, so they pose a challenge to the biological definition
of what a species is.

The examples mentioned can either breed by mixing gametes or produce clones by
making copies of themselves, but some organisms can only reproduce asexually.
Bacteria reproduce asexually using binary fission rather than by breeding. There is
no such thing as mother/father or male/female, and no gametes are produced. Bacterial
cells grow larger, make a copy of their genetic material, and split into two daughter
cells that are identical to the original parent cell.

The idea of passing on genes to the next generation is one of the cornerstones of
biology. The direction of such a transfer of genes is vertical, from one generation
Strawberry plants can clone
themselves by sending out down to the next. But in addition to passing down their genes, bacteria can undergo
runners that become new horizontal gene transfer. Whereas other organisms normally only receive genetic
plants. material once in their life, when the male and female sex cells that formed them first
meet and fuse together, bacteria can exchange genetic material within their lifetime,
rather than just at the start. If a bacterium in a population has a mutation that could be
useful to another member of the population, the two cells can attach to each other and

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exchange sequences of DNA. Remarkably, this gene transfer can be done even if the
host bacterium is not of the same species.

The tree of life concept


is a good example of
a well-accepted way
of seeing how life
evolved over time.
From a central point
representing the
earliest forms of life,
biologists believe the
tree then branches
out in all directions,
and each split that
creates a new branch
is a speciation. Genetic
information flows from
one generation to the
next and, once a split
has occurred, there
is no going back. The
The bacterium on the left, the donor cell, is passing genetic information to the bacterium on the right, concept of horizontal
the host cell, in a process called plasmid transfer. gene transfer is an
example of a paradigm
One of the major assumptions of the concept of a species is that all members of a shift, challenging the
species have a common lineage and come from a series of common ancestors. This long-held beliefs of
biologists. Evidence
is the basis of the tree of life concept. The idea of mixing lineages by trading genes
accumulated over
complicates things hugely. When a bacterium has a mix of genes from its own species the last 100 years
that it received from previous generations, mixed with genes from a donor species challenges the original
during its lifetime, it poses a challenge to the idea of sharing a common ancestry with concept of the tree
the other members of its species. If horizontal gene transfer happened several times of life, and instead
suggests that the tree is,
in previous generations and again during its lifespan, the genetic material inside the in fact, more like a web.
bacterium would be a mosaic of genes from various sources. Genetic information
can jump from branch
Another challenge to the definition of species is the gene transfer that can occur from to branch, causing
bacteria to archaea, from viruses to eukaryotes, and bacteria to eukaryotes. We can an interweaving of
accept the idea that we all have inside our human cells organelles that were once the branches into a
mesh. Organisms not
prokaryotes (e.g. our mitochondria, see Chapter A2.2), and we know that we contain only share common
virus DNA, so who are we, really? Can we say that we are pure human, or are we a ancestors but also have
mosaic of genes from both human and non-human sources? unexpected ancestors
from completely
When sequencing and matching genes, sometimes a sequence of DNA is found that different branches.
has more in common with another species than the one it is found in. Such genes, How does the way that
we organize or classify
known as xenologs or jumping genes, travel in plasmids from one bacterium to knowledge affect what
another. Sometimes we find the same identical gene in several very different species we know?

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of bacteria. Usually when we see similar DNA sequences, we think that the organism
shares a common ancestry but, in this case, the host species are from different
branches of the tree of life and do not share the same lineages, such as yeast cells (a
fungus) containing bacterial DNA. Such examples challenge the concept of species
because it questions the idea that organisms classified in the same genus or species
have a common ancestor.

A3.1.13 – Chromosome number as a shared trait


A3.1.13 – Chromosome number as a shared trait within a species
Cross-breeding between closely related species is unlikely to produce fertile offspring if parent
chromosome numbers are different.

All domestic dogs belong to the same species, Canis familiaris, and dogs have a
chromosome number of 78. The pineapple (Ananas comosus), on the other hand, has
50 chromosomes. The fruit fly (Drosophila melanogaster) has a chromosome number of
8. The red king crab (Paralithodes camtschaticus) has 208. You do not need to memorize
these numbers, but you do need to know how the number of chromosomes a species
possesses is a characteristic that all members of that particular species share. Of
course, there are exceptions, which are explored in Chapter D2.1, but when we state
the chromosome number of a species, such as 46 for humans, we are referring to the
typical diploid number expected in the cells of that species.

Although there are


exceptions, generally
speaking, the number of
chromosomes found in
an organism’s cells should
be identical between all
members of the same species.

A female horse and a male donkey can mate and produce a mule. However, mules cannot
usually mate to make more mules. Because the offspring (the mules) are not fertile, no
new species has been created. Instead, a mule is called an interspecific hybrid. Hybrids
face several challenges to continue as a population. For one thing, the vast majority of
animal and plant hybrids are infertile. Even if one generation of hybrids is produced, a
second generation is highly unlikely. This presents a genetic barrier between species.

Look at the chromosome number (in parentheses) of a mule and its parents:

female horse (64) + male donkey (62) = mule (63)

Mongolian wild horses (the Przewalski’s horse, Equus przewalskii) and domesticated
horses (Equus caballus), which have 66 and 64 chromosomes, respectively, have been
known to produce hybrids as well.

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What happens when the chromosome number of the parents is different? A mule born
with a chromosome number of 63, which is neither that of the mother species nor that
of the father species, makes it challenging to successfully mate within the populations
of either. The atypical chromosome number makes it difficult for homologous pairs
of chromosomes to match up during meiosis (discussed in Section D2.1.9), and thus
production of gametes can be difficult. Mules therefore cannot pass on their genes to
a subsequent generation, and therefore are not considered a new species. However, in
rare cases, interspecific hybrids have been observed to produce fertile offspring.

A3.1.14 – Dichotomous keys


A3.1.14 – Engagement with local plant or animal species to develop a dichotomous key
Application of skills: Students should engage with local plant or animal species to develop a
dichotomous key.

When biologists encounter an organism they need to identify, they can use a
dichotomous key to establish which taxa it belongs to. If you have ever played a
guessing game in which the rule is that you can only ask “yes” or “no” questions, then
you already know how a dichotomous key works.

Here are the basic principles of how to use a dichotomous key. You can try it out with
the example in Figure 7.

1. Look at the first section of the key, which has a pair of sentences, (a) and (b),
describing characteristics.
2. Next, look at the organism to see if the particular characteristic described in
the first line (a) is present in the organism.
3. If the answer is yes, then go to the end of that line and find the number of the
next pair of statements to look at, follow the number given and continue until
the end. If the end of the line contains a name, it is the taxon for the organism.
4. If the answer is no, then go to the second statement just below it, (b), and that one
should be true; go to the end of that line and find the number of the next pair of
statements to look at. Follow the number given and continue until the end.

The idea is to keep going until you get to a name instead of a number: if you have answered
each question correctly, that will be the name of the taxon your organism belongs to.

Dichotomous key A3.1 Figure 7 Example


of the beginning of a
1 a) No differentiated tissues, no symmetry or identifiable organs ........ Porifera (sponges) dichotomous key to identify
animal taxa.
b) Presence of differentiated tissues and organs ...................................... go to 2
2 a) Stinging cells present, can show radial symmetry .............................. Cnidaria
(e.g. sea jellies)
Develop your own
b) No stinging cells ......................................................................................... go to 3 dichotomous key for
local plant or animal
3 a) Has two-way digestive tract and bilateral symmetry ......................... Platyhelminthes species. Full details
(flatworms) of how to carry out
this activity with a
b) Has a one-way digestive tract .................................................................. go to 4…
worksheet are available
etc… in the eBook.

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A3.1.15 – DNA barcoding


A3.1.15 – Identification of species from environmental DNA in a habitat using
barcodes

Using barcodes and environmental DNA allows the biodiversity of habitats to be investigated
rapidly.

When we go to a store to buy a T-shirt or a bottle of orange juice, the barcode on the
label is scanned and converted to a number. That number is used to identify the item
by matching it against a database of items that includes their prices. Using a similar
idea, genetic sequences obtained from organisms can be given a number (a barcode
identification number or BIN) that is matched against a database of sequences that
are known to belong to previously identified and named organisms. A DNA barcode
is a short sequence of DNA (several hundred base pairs) inside an organism’s cells that
can be used to quickly identify the species.

To barcode a specimen means to sequence its genetic material and match a specific
sequence to a known sequence stored in a genetic library. Thanks to the technology of
DNA sequencing, millions of these barcodes have been added to libraries. A category
that is commonly used to identify animals is mitochondrial DNA. For prokaryotes,
sequences found in ribosomes (ribosomal RNA rather than DNA) are used for the
barcodes instead.

In order to be usable by scientists and researchers everywhere, the data about these
barcodes needs to be stored in a place that is accessible, such as the Barcode of Life
Data System, or BOLD, developed in Canada. If there is a very strong match (99%
or more), then we have a high level of confidence that the correct species name has
been found for an organism. If the match is less strong, we have less confidence
that it is the same species, and other techniques should be used to confirm the true
species.

Such databases can be used to rapidly identify the various species present in an
ecosystem. Water samples can be taken from lakes, rivers, estuaries and oceans, and
soil samples can be taken from fields and forests. The DNA extracted from the water
or soil is sequenced and barcodes are isolated for analysis. Such DNA collected from
the environment rather than from an organism is called environmental DNA or
eDNA. It is present in the environment because organisms release dead cells, produce
faeces or die and start to decay. Think of a wild animal shedding hair, a tree losing a
leaf or a fish releasing waste into a river. DNA can be found in any cells shed by an
organism. After separating out the different DNA in a sample, it can be amplified using
a technique called polymerase chain reaction (PCR) (see Chapter D1.3) and then
sequenced.

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Diversity of organisms A3.1
Water or soil samples
collected in an ecosystem can
be sequenced in a laboratory
to identify the organisms that
inhabit it.

Specialists studying a zone near a polluted area often want to know if the biodiversity
of the zone is affected. Biodiversity can be measured by identifying and counting the
number of species present. Although dichotomous keys and experienced expert eyes
can identify organisms reasonably quickly down to the family or genus level, it can
be difficult to identify to the species level with a high degree of accuracy because of
very subtle differences in appearance or in differences that might not be noticeable at
the time of observation. For animals such as insects, the larval stage often looks very
different from the adult stage. For plants, if an unidentified plant is not flowering or a
tree has lost its leaves, identification using morphology can be very challenging if not
impossible because these features are often crucial to their proper identification. To
identify organisms morphologically, they have to be observed directly or captured,
which can be time consuming as many animals are elusive. Identifying organisms by
physical features is also significantly more difficult for microbes, which cannot be seen
unless you use a microscope or can culture them in a laboratory. With DNA barcodes
and fast sequencing technology, samples of DNA can be sequenced and matched to
identify species with a high level of confidence in a matter of hours.

Certain species can be used as bioindicators or indicator species: these organisms are
so sensitive to certain types of pollution that their presence in an ecosystem indicates
a lack of pollution. Conversely, their sudden disappearance from an ecosystem would
suggest the appearance of a source of pollution. Caddisfly larva live underwater in
streams and can be used as bioindicators for water health. A large caddisfly population
is reassuring, but a small or disappearing caddisfly population is a signal to investigators
that they should start looking for potential contamination upstream. DNA barcoding of
water samples can indicate the presence of one or more species of caddisfly.

Very sensitive organisms Examples of indicator


species that are very sensitive
to pollution and whose
presence in an ecosystem can
reassure us that the habitat is
healthy.

stonefly larva riffle beetle adult mayfly larva water penny larva

gilled snail planarian caddisfly larva hellgramite

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A UNITY AND DIVERSITY Organisms

To determine whether To perform an ecological survey, one species at a time is identified and counted,
biodiversity is increasing and often, for example with insects, birds or fish, this requires capturing them,
or decreasing, a baseline which can disrupt the population. With eDNA metabarcoding, a single sample
is needed to compare
to later: we need to can be sequenced for dozens or hundreds of species without having to capture
know how many species individual organisms. This is more time efficient for the specialists carrying out
are present now so the ecological surveys. Over months and years, if the number of species in an
that we can see if the
number goes up or ecosystem decreases, we know that the biodiversity of that habitat is unhealthy
down later. In most or declining. In contrast, if the number of species is stable or increases over time,
parts of the world, we know that biodiversity is stable or improving, suggesting that the ecosystem is
terrestrial, aquatic or
marine ecosystems do healthy and flourishing.
not have such baselines,
so we cannot know There are some disadvantages to using environmental DNA. Firstly, it only gives an
how much biodiversity indication of the presence or absence of a species, not the population size. Secondly,
is changing. Barcoding
the DNA does not indicate if it is from a living organism or a dead one. Thirdly,
of environmental DNA
can help rectify this. certain chemical incompatibilities exist with the processing of soil samples because
Look through the TOK substances in the soil can interfere with the sequencing process, giving rise to
prompts. Do any apply
inaccurate results.
to this example? What
are the implications of H L end
having, or not having,
knowledge?
Testing for genetic material shed by organisms can be applied in unexpected situations. In
the second year of the COVID pandemic, in addition to testing people for viruses, many
municipalities were testing wastewater for the presence of SARS-CoV-2. In New York City,
some sequences that were identified were from strains of the virus that had never shown
up in samples from patients. This suggested that the problem was more complex and
widespread than previously understood. Towns and cities that used this technique could
target certain neighbourhoods for additional testing, prevention and medical resources.

Guiding Question revisited


What is a species?

In this chapter we have learned that:

• there is no single definition of the term “species” because the sheer variety of
currently living species and extinct species is so enormous and complex
• using morphology works up to a point, but this methodology is poorly adapted
for microbes or for species that are visually very similar
• the biological species concept works most of the time but is does not work for
single-celled organisms that do not breed, or for organisms that are only found
in the fossil record.

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Diversity of organisms A3.1
Guiding Question revisited
What patterns are seen in the diversity of genomes within and between
species?

In this chapter we have discussed how:

• there is some diversity in genomes of individuals of the same species


• there is much more diversity when two different species are compared,
especially if they were separated in a speciation event that occurred long ago.

Exercises
Q1. The system of giving a scientific or Latin name to organisms such as Canis
familiaris is used worldwide. State the name of this system and identify the
person who perfected and popularized it.
Q2. Distinguish between the morphological definition of species and the
biological species concept.
Q3. Explain the features of chromosomes that are taken into consideration when
making a karyogram.
Q4. Distinguish between haploid and diploid cells.
Q5. A karyogram can be used to determine if an unborn baby will be a girl or a
boy. Explain how a karyogram is analysed to do this.
Q6. Outline the evidence for a fusion of ancestral chromosomes to become
human chromosome 2.
Q7. Outline the advantages of personalized medicine using genomes.
Q8. HL Discuss reasons for and against using environmental DNA and
barcoding for ecological surveys of biodiversity.

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