08 - How To Read A Phylogenetic Tree
08 - How To Read A Phylogenetic Tree
08 - How To Read A Phylogenetic Tree
DOI 10.1007/s12052-010-0273-6
Abstract It has been over 50 years since Willi Hennig wouldn’t need to review phylogenetic methodology in our
proposed a new method for determining genealogical biodiversity course. It didn’t take long for us to realize that our
relationships among species, which he called phylogenetic assumption was naïve; by the time many of the students had
systematics. Many people, however, still approach the arrived in EEB 265, they had already hit the delete button next
method warily, worried that they will have to grapple with to “phylogenetics” in their brain. It is always humbling to
an overwhelming number of new terms and concepts. In fact, (re)discover that not everyone shares your views about the
reading and understanding phylogenetic trees is really not things in life that are interesting and important!
difficult at all. You only need to learn three new words, Back to the drawing board. One of the major problems with
autapomorphy, synapomorphy, and plesiomorphy. All of the teaching a course about metazoan diversity is that you simply
other concepts (e.g., ancestors, monophyletic groups, don’t have enough time to cover all of the groups. The last
paraphyletic groups) are familiar ones that were already part thing we wanted to do was to sacrifice biology-based lectures
of Darwinian evolution before Hennig arrived on the scene. for a discussion about theory. So, the challenge was simple:
design a lecture that would, in 50 minutes, teach students how
Keywords Phylogenetic tree to understand what a phylogenetic tree was telling them. It
wasn’t our intention to teach students how to make trees, just
how to read them. This paper is based on that lecture.
Dan Brooks and I teach a biodiversity course (EEB 265) to
The word “phylogeny” is a combination of two Greek
second year students at the University of Toronto. The entire
words, phyle (tribe—in particular, the largest political subdi-
course is structured around a phylogenetic framework. We
vision in the ancient Athenian state [www.yourdictionary.
begin with the big, albeit simplified, tree of the Metazoa, then
com; www.etymonline.com]: another word we get from this is
work our way from sponges to snakes, focusing on the
“phylum”) and geneia (origin [www.etymonline.com]:
characters that bind groups together and the characters that
another word we get from this is “gene”). It was coined
make each group unique. If we are doing our job correctly, our
by the developmental biologist Ernst Haeckel in 1866 and
students should be able to answer the following questions—
then championed by Darwin in his famous work, On the
what is this animal (how do you know)? What does it do?
Origin of Species (beginning with the 5th edition in 1869).
What makes it special? What aspects of its biology make it
Both biologists tied the idea of “phylogeny”—the origin
vulnerable to anthropogenic intervention? Since all of the
of groups—to evolution. Phylogenetic trees are thus
students had already taken a lab in first year biology covering
simply diagrams that depict the origin and evolution of
the fundamentals of phylogenetics, we assumed that we
groups of organisms.
Although you might not know it, we are all familiar with
D. A. McLennan (*) the idea of phylogenetic trees. People have been making
Department of Ecology and Evolutionary Biology, such trees for decades, substituting the word, “family” for
University of Toronto,
“phylogenetic” (Fig. 1). Just as individual people in a
25 Willcocks St.,
Toronto, ON M5S 3B2, Canada family over generations are connected by bonds of “blood”
e-mail: [email protected] (the process of reproduction that produces offspring),
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Family trees represent historical “ties of blood” butterflies (Fig. 4a); cats and people both have a backbone,
(= genes = reproduction)
butterflies are spineless1. Not all characters are synapomor-
phies. Some traits, called plesiomorphies, are shared by all the
Albert x Maude
members of a group. Returning to our tree, we see that cats,
people, and butterflies all have DNA (Fig. 4b). The presence
of DNA allows us to hypothesize that these three species are
all part of the same group, but it does not tell us anything
Alice Harold x Marie Philip Albert Rose x James Anne
about how those species are related to one another. Think of it
this way: my last name tells me that I am part of the
McLennan clan. If I meet someone called Jessie McLennan, I
know we are related somehow, but I haven’t any idea whether
Frank x Cynthia John x Susan Jacquelyn Marilyn x Alan she is a long lost cousin or someone from a more distant
branch of the family tree. The final term you need to know is
Moonbeam x Chastity
autapomorphy—traits that are only found in one member of
the group. For example, butterflies can be distinguished from
Brittany Jason Megan x Shaun cats and people because they have an exoskeleton made out of
Star x donor 14453 chitin (a tough, waterproof derivative of glucose). Autapo-
morphies help us identify a particular species in a group but,
like plesiomorphies, they tell us nothing about relationships
Hope
Leonardo Kate within the group. Overall these three types of characters can be
Fig. 1 Family tree for an interesting group of people. In phylogenetic
likened to the story of Goldilocks: plesiomorphies are too hot
terms, family trees (genealogies of people) = phylogenetic trees (too widespread), autapomorphies are too cold (too restricted),
(genealogies of species) and synapomorphies are just right (for determining phyloge-
netic relationships).
individual species are connected by evolutionary ties Enough of characters for the moment; back to the trees
(biological processes like natural selection and geological themselves. Why do the branches on a tree have names (e.g.,
processes such as continental drift or a river changing lion, tiger, etc.), while the lines joining different branches
course that produce species). In this sense, speciation (the together do not (Fig. 5)? This is because these lines represent
production of new species) = reproduction (the production ancestors. An ancestor is a species that has undergone a
of new individuals). In other words, we are all, from speciation event to produce descendant species. The ancestor
members of the same family to members of the same usually “disappears” in the process of speciation. Does this
species, connected by genes. mean that the ancestor goes extinct?
Family trees tend to be drawn as if they were hanging In order to answer this, we must do some time traveling
upside down, like a cluster of grapes. Phylogenetic trees are carrying a digital device that records everything we see
depicted somewhat differently. Imagine that you are (Fig. 6). Imagine you travel back 10,000,000 years, then
holding the family tree for the big cats shown in Fig. 2a. stop, intrigued by an interesting species of lizard with red
Now, flip it sideways (rotate 90° counterclockwise) and you spots all over its back (species A). After a while, you decide
have the image shown in 2b. Rotate this image yet another to move forward in time five million years or so then stop
90° counterclockwise, smooth it out, and you have the again. You search around and discover two new lizard
image shown in Fig. 2c (this tree shape was the one used by species, one with blue spots on its back (species B), and the
Darwin in On the Origin of Species). The important thing to other with red stripes (species C), but species A is nowhere
remember is that all three depictions are saying exactly the to be seen. Did it go extinct? You look back over your
same thing about the relationships among species of big digital recording of those five million years and discover
cats. How you choose to draw your phylogenetic trees that species A split into two groups, which became different
depends, in part, on personal preference—some people find in some ways from one another through time. In evolu-
it easier to read 2b, others prefer 2c. tionary terms, species A is an ancestor (ancestor 1) and
Phylogenetic trees are reconstructed by a method called species B and C are its descendants. Fast forward to today
“phylogenetic systematics” (Fig. 3). This method clusters (with more digital material to watch) and you find three
groups of organisms together based upon shared, unique
characters called synapomorphies. For example, you share the 1
Photograph of monarch butterfly courtesy of Daniel Brooks; image
presence of a backbone with cats, but not with butterflies. The
of the Simpsons from Simpsons wallpaper (www.simpsonstrivia.com.
presence of a backbone thus allows us to hypothesize that ar/simpsons-wallpaper.htm); Kitten is Taala (which means “wind” in
human beings are more closely related to cats than they are to the language of the Nuxalk Nation people, Bella Coola, BC)
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So many ways to draw a family (a) usual way family trees are drawn for people (in this
case you see a family tree for big cat species)
(phylogenetic) tree
clouded leopard
clouded leopard
snow leopard
snow leopard
leopard
leopard
lion
lion
tiger jaguar
tiger
jaguar
species of lizard: your old friend the blue spotted lizard example, consider a simplified phylogenetic tree of the
(species B) and two new lizards (descendants of species C, dinosaurs (Fig. 7). All of the groups on dotted branches are
the red striped lizard), one with blue stripes (species D) and extinct—none of the species in those groups exist on this
the other with a solid black back (species E). Today, then, planet anymore (Jurassic Park notwithstanding), which
there are only three species of lizard alive. You no longer means that all of the information that was unique to each
see either of the ancestors (the red spotted and red striped of those groups has been lost. The only group that managed
lizards), but we still show them on the phylogenetic tree. to avoid extinction was Aves (or birds)—avian species are
The answer to our original question “did the ancestor go the last remaining dinosaurs.
extinct?” is thus No! In many cases, the ancestor is subdivided OK, let’s take what we have learned about ancestors and
and the biological (genetic) information encompassed within clustering groups based on shared, unique characters
the ancestor is passed on to the descendant species. Over (synapomorphies) and use that to decipher the information
time, the descendants change and become different in some contained within a phylogenetic tree. Here is a tree
ways from each other and from the ancestor, while retaining depicting the relationships among living members of the
some things in common (for example, all of our lizard Amniota, a large group of vertebrates that includes most of
species have a backbone). This is evolution. the animals with which you are familiar (Fig. 8). You
So what really counts as extinction? Extinction is the loss already know that the names of species, or groups of
of biological information—the physical loss of a species. For species, are written across the tips of the branches on the
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for example, you share the presence of a backbone with cats, but not with
butterflies
butterfly (Danaus plexippus) cat (Felis catus) human beings (Homo sapiens)
Fig. 3 The basis of phylogenetic systematics
tree. The next thing you need to know is that characters are among the groups (Fig. 9b) and list the synapomorphies for
depicted at their point of origin on a phylogenetic tree. So, on each branch elsewhere in a table. On the other hand, if you
this tree you can see that (1) the amniotic egg originated in are interested in one or more particular traits, you can
ancestor 1 and was passed on to all of its descendants highlight them on the phylogenetic tree without showing all
(mammals, ancestor 2, turtles, ancestor 3, ancestor 4, the other characters. For example, if you wanted to discuss the
crocodiles, birds, ancestor 5, tuataras, and lizards plus snakes). evolution of mammals, you could show the amniote tree and
In evolutionary terms, the amniotic egg is a unique trait that is highlight just the synapomorphies for the mammals (e.g., three
shared only by ancestor 1 and all of its descendants; (2) a middle ear bones: Fig. 9c). Remember, this is just shorthand!
special type of skin protein (β keratin) originated in ancestor 2 There is one last thing about characters that is important to
and was passed on to all of its descendants (turtles, ancestor 3, understand: characters are not static things. They evolve
ancestor 4, crocodiles, birds, ancestor 5, tuataras and lizards through time. In other words, a “synapomorphy” may not
plus snakes). β keratin is a unique trait shared by the group “look the same” in all species that have it. So, for example,
called “Reptilia”; and (3) a breakable tail originated in consider the stapes, one of the three bones in your middle ear
ancestor 5 and was passed on to all of its descendants that are responsible for transferring sound waves from the
(tuataras, lizards plus snakes). A breakable tail is a unique trait eardrum to the membrane of the inner ear. This small bone has
shared by members of the group tuataras + lizards + snakes. a long, complicated, and fascinating evolutionary history. To
In fact, every organism is a complex mosaic of thousands understand that history, we must travel back many of hundreds
of traits. If you don’t believe this, sit down and list all of the of millions of years to the origin of the Deuterostomes, a large
traits that make you, you. In addition to the obvious things like group that includes the Echinodermata (starfish and their
eye color and hair color, don’t forget the fact that you have relatives), Hemichordata (worm-like, marine creatures), and
RNA, DNA, individual cells, an anterior and posterior end, a Chordata (amphioxus + tunicates + Craniata [organisms with
skull, jaws, bone, arms and legs, come from an amniotic egg, skulls]). The ancestor of this large group had numerous slits in
have three bones in your inner ear, were suckled on milk its pharynx (called visceral arches) that were involved with
produced in mammary glands, have an opposable thumb, and filter feeding. Time passed and cartilaginous rods providing
no tail. In other words, when you look at a phylogenetic tree, support for the arches appeared, were subdivided and
you will see that all of the branches have at least one, and more modified. The upper section of the second visceral arch rod
likely many, characters on them (the slash marks on is the focus of our tale (Fig. 10). As we move forward still
Fig. 9a). Because of this, it is often difficult to actually further in time, this character undergoes various structural
label all of the traits on a tree because it’s visually and positional modifications; in essence, it becomes larger,
distracting. A shorthand method has been developed to deal more robust, and involved in supporting the jaws (at which
with this problem: draw the tree showing the relationships point it is called the hyomandibula), changes from cartilage
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butterfly (Danaus plexippus) cat (Felis catus) human beings (Homo sapiens)
backbone (synapomorphy)
The presence of a backbone allows us to cluster cats
with human beings, to the exclusion of butterflies. We
have now constructed the hypothesis that cats are
more closely related to human beings than they are
to butterflies.
butterfly (Danaus plexippus) cat (Felis catus) human beings (Homo sapiens)
backbone (synapomorphy)
DNA (plesiomorphy)
b
Fig. 4 Identifying types of characters on a phylogenetic tree. a a synapomorphy; b a plesiomorphy; c an autapomorphy
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butterfly (Danaus plexippus) cat (Felis catus) human beings (Homo sapiens)
exoskeleton made of
chitin (autapomorphy)
backbone (synapomorphy)
DNA (plesiomorphy)
c
Fig. 4 (continued)
Ancestor 5
Ancestor 4
Ancestor 3
In this example, each line (or
branch) on the phylogenetic
tree represents an individual Ancestor 2
species
Ancestor 1
SPECIES B
(the blue spotted lizard)
SPECIES B
(the blue spotted lizard)
SPECIES D
SPECIES A speciation (the blue striped lizard)
(the red spotted lizard) of A
speciation
SPECIES C
(the red striped lizard) of C
SPECIES E
(the black lizard)
ANCESTOR 1 (= Species A)
At this point in time you At this point in time you would only see
would only see species A species B and species C. Species A Today you would only see species B,
(ancestor 1) has speciated and no longer species D and species E. Species C
exists as an independent species. (ancestor 2) has speciated and no longer
exists as an independent species.
to bone, then begins a gradual reduction in size, disengages letic group includes an ancestor and all of its descendants.
from the jaw/cheek area, and moves into the middle ear (at It is identified by the presence of shared, unique characters
which point it is called the stapes). Overall then, the upper (synapomorphies). Each phylogenetic tree contains as many
portion of the 2nd visceral arch—hyomandibula—stapes is monophyletic groups as there are ancestors. For example,
the same structure that has had both its shape and function looking at the tree in Fig. 11, we can identify five
modified over hundreds of millions of years. So although the monophyletic groups, only two of which are shown on
presence of a “cartilaginous rod in the 2nd visceral arch Fig. 12 (I’ll leave it up to you to discover the other three).
found in the throat region” may be a synapomorphy for the Now onto “the bad.” The word “paraphyletic” is, once
Craniata, you won’t find that exact structure in any four- again, a combination of two Geek words, para (near) and
footed animals. Instead, what you will find is the modifica- phyle (tribe), so the implication is that the whole tribe is not
tion of that cartilaginous rod, the stapes. The continued present (Fig. 13). Paraphyletic groups include an ancestor but
evolution of a particular character past its point of origin is not all of its descendants. On this hypothetical tree, species C
called an evolutionary transformation series. has been eliminated from the group, even though it is a
The next thing that students of phylogenetics have to descendant of ancestor 1 just like the rest of the species.
know is how to recognize different kinds of groups of Paraphyletic groups are problematic because they mislead us
organisms. There are two general types of groups, one about how characters evolve and how species are related to
“good” and the other “bad”. one another. For example, let’s consider the big tree for the
Let’s begin with “the good,” a monophyletic group Amniota and highlight the “old” Reptilia, one of the most
(Fig. 11). The word “monophyletic” is a combination of famous paraphyletic groups (Fig. 14). Even today people still
two Greek words, monos (single) and phyle (tribe). It was speak about three distinct classes, the reptiles, the birds, and
coined by our old friend Ernest Haekel, who, as you the mammals. When you look at this figure, what is wrong
remember, also invented the word phylogeny. A monophy- about the class Reptilia, the way it is drawn?
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all of the dinosaur lineages are extinct except for Aves (birds)
Right! In (Fig. 15) Ancestor 2 is the ancestor of all the term to include crocodiles, turtles, tuataras, lizards, snakes,
reptiles but, as highlighted on this figure, the Reptilia does and birds. In the past, birds were not considered to be
not include all of ancestor 2’s descendants; ancestor 4 and reptiles because they are warm-blooded (in fact, they were
the birds have been removed from the group. The only way often grouped with mammals because of that trait). But
to make the Reptilia a monophyletic group is to redefine the phylogenetic studies have demonstrated that birds are
Ancestor 4 Ancestor 5
Ancestor 3
Ancestor 2
characters are shown at their point
of origin
e.g., the amniotic egg originated in ancestor 1 and has Ancestor 1
been passed on to all of its descendants (mammals,
ancestor 2, turtles, ancestor 3, ancestor 4, crocodiles,
birds, ancestor 5, tuataras, lizards and snakes)
mammals turtles crocodiles birds tuataras lizards + snakes mammals turtles crocodiles birds tuataras lizards + snakes
three bones in
the middle ear
b the characters are still there, they just c highlighting just the character of
haven’t been drawn on the tree interest on the tree
indeed reptiles because they share many morphological, error” arising from incomplete or flawed information
behavioral, and molecular characters with other reptilian (e.g., poor descriptions of characters). Using such groups
species in general (synapomorphies originating in ancestor to study evolutionary processes will direct us along
2; e.g., β keratin), and they share many characters with misleading and confusing pathways.
crocodiles in particular (synapomorphies originating in Why do we use phylogenetic trees? There are many
ancestor 4; e.g., holes in the skull just in front of the eyes). ways to answer this question (and many papers/books
Why is it important to have monophyletic groups? Say written about it), but the most general answer is that trees
you wanted to figure out how red hair appeared in your summarize valuable information about the evolution of
family. What would be your chances of tracking down organisms that allows us to understand them better. For
your original red-haired ancestor if no records were kept example, here’s the family tree for the Hominoidea, the
about the union between your great-great-great-great group that includes us and all of our closest relatives
grandfather Sven and his Irish bride Maggie? Missing (Fig. 16). When you look at the distribution of characters
information creates problems for any research, be it on this tree you can see that a number of traits we associate
genealogical or evolutionary, and paraphyletic groups are only with human beings, such as hunting, infanticide, tool
missing information. In evolutionary terms, monophyletic making, self-awareness, and language, originated long
groups are “real” biological units; that is, they are the before Homo sapiens. In other words, human beings are
product of descent with modification (an ancestor and all not as unique as you might think. If we want to understand
of its descendants) and as such can be used to study the how and why those traits evolved, we must study their
evolutionary processes that produced them. Paraphyletic expression and function in ourselves and in our relatives.
groups, on the other hand, are the product of “human So much information from just one phylogenetic tree!
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hyomandibula (= stapes)
reduced further, moved to
middle ear
hyomandibula reduced in size, only
partially connected to cheek bones
the upper portion of the 2nd visceral arch (now called the
hyomandibula) is larger and has moved, supports the jaw
jointed cartilaginous rods support the slits in the pharynx (visceral
arches). Of particular interest to our story is upper portion of the 2nd
visceral arch.
Fig. 10 Synapomorphies are not static; they may continue to evolve. the idea of character origin and modification rather than the finer
Changes in the character “upper portion of the second visceral arch” details of character evolution. Names in italics refer to extinct species
[hyomandibula, stapes] are traced on the phylogenetic tree for the known from fossils. Line drawings and photographs of various
Chordata (animals with notochords). Both the story and the structures and species can be found easily on the web
phylogenetic tree have been substantially simplified to emphasize
Species name A B C D E F
eats insects
Ancestor 5
four toes
Ancestor 3
red beak
Ancestor 1
There are as many monophyletic groups on this phylogenetic tree as there are ancestors.
516 Evo Edu Outreach (2010) 3:506–519
A B C D E F
red beak
Ancestor 1
A B C D E F
Ancestor 5
Monophyletic group 2 (ancestor 3 and all of its
descendants)
yellow legs
can you identify the other three monophyletic groups on this tree?
Fig. 12 Two of the five monophyletic groups on the hypothetical tree
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A B C? D E F
Ancestor 5
Ancestor 4
Ancestor 3
Ancestor 2
Ancestor 1
Ancestor 4 Ancestor 5
Ancestor 3
Ancestor 2
Ancestor 1
The dotted line surrounds taxa that people used to include in the class Reptilia. Even
today, many people still think that reptiles are just snakes, lizards, turtles and crocodiles
(not many people know about tuataras).
Ancestor 3
Ancestor 1
Monophyletic Reptilia (the good)
Ancestor 4 Ancestor 5
rudiments of language
hunting
infanticide
loss of tail