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Phylogenetics Basics
MOLECULAR EVOLUTION AND
MOLECULAR PHYLOGENETICS
• Evolution can be defined as the development of a biological
form from other preexisting forms or its origin to the current
existing form through natural selections and modifications.
• Underlying mechanism of evolution is genetic mutations
that occur spontaneously.
• Phylogenetics is the study of the evolutionary history of
living organisms using tree like diagrams to represent
pedigrees of these organisms.
• The tree branching patterns representing the evolutionary
divergence are referred to as phylogeny.
• Molecular data that are in the form of DNA or protein sequences can also
provide very useful evolutionary perspectives of existing organisms because, as
organisms evolve, the genetic materials accumulate mutations over time
causing phenotypic changes.
• Because genes are the medium for recording the accumulated mutations,
they can serve as molecular fossils.
• The field of molecular phylogenetics can be
defined as the study of evolutionary relationships
of genes and other biological macromolecules by
analyzing mutations at various positions in their
sequences and developing hypotheses about the
evolutionary relatedness of the biomolecules.
• Based on the sequence similarity of the
molecules, evolutionary relationships between
the organisms can often be inferred.
• The lines in the tree are called branches.
• At the tips of the branches are present-day
species or sequences known as taxa (the singular
form is taxon) or operational taxonomic units.
• The connecting point where two adjacent
branches join is called a node, which represents
an inferred ancestor of extant taxa.
• The bifurcating point at the very bottom of the
tree is the root node, which represents the
common ancestor of all members of the tree.
• A group of taxa descended from a single common ancestor
is defined as a clade or monophyletic group.
• In a monophyletic group, two taxa share a unique common
ancestor not shared by any other taxa.
• They are also referred to as sister taxa to each other (e.g.,
taxa B and C).
• The branch path depicting an ancestor–descendant
relationship on a tree is called a lineage, which is often
synonymous with a tree branch leading to a defined
monophyletic group.
• paraphyletic (e.g., taxa B, C, and D) When a number of taxa
share more than one closest common ancestors, they do
not fit the definition of a clade.
• The branching pattern in a tree is called tree
topology.
• When all branches bifurcate on a phylogenetic
tree, it is referred to as dichotomy.
• In this case, each ancestor divides and gives rise
to two descendants.
• Sometimes, a branch point on a phylogenetic tree
may have more than two descendents, resulting
in a multifurcating node.
• The phylogeny with multifurcating branches is
called polytomy
• An unrooted phylogenetic tree does not
assume knowledge of a common ancestor, but
only positions the taxa to show their relative
relationships.
• In a rooted tree, all the sequences under study
have a common ancestor or root node from
which a unique evolutionary path leads to all
other nodes. (more informative)
• Midpoint rooting approach, in which the
midpoint of the two most divergent groups
judged by overall branch lengths is assigned as
the root.
As its name suggests, Midpoint rooting attempts to
root the tree in its middle point. It does this by
calculating all of the tip-to-tip distances and
selecting the longest - A to E in the tree above.
The root is then placed exactly half-way between
these two tips.
If the tree is behaving and the rates of evolution are
pretty constant throughout, this point should
represent the ancestral point.
It is therefore useful in situations where the actual
root is not known but the assumption of a
reasonably constant "clock-like" rate of evolution is
quite sound
• Outgroup, which is a sequence that is homologous to the sequences
under consideration, but separated from those sequences at an
early evolutionary time.
• Unlike midpoint rooting, in which features of the tree itself specify
the root, in outgroup rooting existing knowledge is utilised to place
the root in the right place.
• This is done by using an "Outgroup" - a species or molecule that is
known to be more distantly related than everything else in the tree.
In the example above, kangaroo is to outgroup root the tree as it is
known that marsupial mammals diverged from the ancestral
lineage of all placental mammals.
• .
Molecular clock is an assumption by which
molecular sequences evolve at constant rates
so that the amount of accumulated mutations
is proportional to evolutionary time
• A gene phylogeny (phylogeny inferred from a gene or
protein sequence) only describes the evolution of that
particular gene or encoded protein.
• This sequence may evolve more or less rapidly than other
genes in the genome or may have a different evolutionary
history from the rest of the genome owing to horizontal
gene transfer events.
• The species evolution is the combined result of evolution
by multiple genes in a genome.
• In a species tree, the branching point at an internal node
represents the speciation event whereas, in a gene tree,
the internal node indicates a gene duplication event.
• The two events may or may not coincide.
FORMS OF TREE REPRESENTATION
Phylogenetic trees drawn as cladograms
(top) and phylograms (bottom).
The branch lengths are unscaled in the
cladograms and scaled in the phylograms.
The trees can be drawn as angled
form (left) or squared form (right).
Newick format of tree representation that employs a linear form of nested
parentheses within which taxa are separated by commas.
If the tree is scaled, branch lengths are indicated immediately after the taxon
name.
The numbers are relative units that represent divergent times.
Introduction to phylogenetics-
referance
• https://www.ebi.ac.uk/training/online/course
/introduction-phylogenetics/what-
phylogeny/aspects-phylogenies/nodes/root

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Phylogenetics Basics.pptx

  • 2.
  • 3.
  • 4.
  • 5. MOLECULAR EVOLUTION AND MOLECULAR PHYLOGENETICS • Evolution can be defined as the development of a biological form from other preexisting forms or its origin to the current existing form through natural selections and modifications. • Underlying mechanism of evolution is genetic mutations that occur spontaneously. • Phylogenetics is the study of the evolutionary history of living organisms using tree like diagrams to represent pedigrees of these organisms. • The tree branching patterns representing the evolutionary divergence are referred to as phylogeny.
  • 6. • Molecular data that are in the form of DNA or protein sequences can also provide very useful evolutionary perspectives of existing organisms because, as organisms evolve, the genetic materials accumulate mutations over time causing phenotypic changes. • Because genes are the medium for recording the accumulated mutations, they can serve as molecular fossils.
  • 7.
  • 8.
  • 9.
  • 10. • The field of molecular phylogenetics can be defined as the study of evolutionary relationships of genes and other biological macromolecules by analyzing mutations at various positions in their sequences and developing hypotheses about the evolutionary relatedness of the biomolecules. • Based on the sequence similarity of the molecules, evolutionary relationships between the organisms can often be inferred.
  • 11. • The lines in the tree are called branches. • At the tips of the branches are present-day species or sequences known as taxa (the singular form is taxon) or operational taxonomic units. • The connecting point where two adjacent branches join is called a node, which represents an inferred ancestor of extant taxa. • The bifurcating point at the very bottom of the tree is the root node, which represents the common ancestor of all members of the tree.
  • 12. • A group of taxa descended from a single common ancestor is defined as a clade or monophyletic group. • In a monophyletic group, two taxa share a unique common ancestor not shared by any other taxa. • They are also referred to as sister taxa to each other (e.g., taxa B and C). • The branch path depicting an ancestor–descendant relationship on a tree is called a lineage, which is often synonymous with a tree branch leading to a defined monophyletic group. • paraphyletic (e.g., taxa B, C, and D) When a number of taxa share more than one closest common ancestors, they do not fit the definition of a clade.
  • 13. • The branching pattern in a tree is called tree topology. • When all branches bifurcate on a phylogenetic tree, it is referred to as dichotomy. • In this case, each ancestor divides and gives rise to two descendants. • Sometimes, a branch point on a phylogenetic tree may have more than two descendents, resulting in a multifurcating node. • The phylogeny with multifurcating branches is called polytomy
  • 14. • An unrooted phylogenetic tree does not assume knowledge of a common ancestor, but only positions the taxa to show their relative relationships. • In a rooted tree, all the sequences under study have a common ancestor or root node from which a unique evolutionary path leads to all other nodes. (more informative)
  • 15. • Midpoint rooting approach, in which the midpoint of the two most divergent groups judged by overall branch lengths is assigned as the root. As its name suggests, Midpoint rooting attempts to root the tree in its middle point. It does this by calculating all of the tip-to-tip distances and selecting the longest - A to E in the tree above. The root is then placed exactly half-way between these two tips. If the tree is behaving and the rates of evolution are pretty constant throughout, this point should represent the ancestral point. It is therefore useful in situations where the actual root is not known but the assumption of a reasonably constant "clock-like" rate of evolution is quite sound
  • 16. • Outgroup, which is a sequence that is homologous to the sequences under consideration, but separated from those sequences at an early evolutionary time. • Unlike midpoint rooting, in which features of the tree itself specify the root, in outgroup rooting existing knowledge is utilised to place the root in the right place. • This is done by using an "Outgroup" - a species or molecule that is known to be more distantly related than everything else in the tree. In the example above, kangaroo is to outgroup root the tree as it is known that marsupial mammals diverged from the ancestral lineage of all placental mammals. • .
  • 17. Molecular clock is an assumption by which molecular sequences evolve at constant rates so that the amount of accumulated mutations is proportional to evolutionary time
  • 18. • A gene phylogeny (phylogeny inferred from a gene or protein sequence) only describes the evolution of that particular gene or encoded protein. • This sequence may evolve more or less rapidly than other genes in the genome or may have a different evolutionary history from the rest of the genome owing to horizontal gene transfer events. • The species evolution is the combined result of evolution by multiple genes in a genome. • In a species tree, the branching point at an internal node represents the speciation event whereas, in a gene tree, the internal node indicates a gene duplication event. • The two events may or may not coincide.
  • 19. FORMS OF TREE REPRESENTATION Phylogenetic trees drawn as cladograms (top) and phylograms (bottom). The branch lengths are unscaled in the cladograms and scaled in the phylograms. The trees can be drawn as angled form (left) or squared form (right).
  • 20. Newick format of tree representation that employs a linear form of nested parentheses within which taxa are separated by commas. If the tree is scaled, branch lengths are indicated immediately after the taxon name. The numbers are relative units that represent divergent times.
  • 21. Introduction to phylogenetics- referance • https://www.ebi.ac.uk/training/online/course /introduction-phylogenetics/what- phylogeny/aspects-phylogenies/nodes/root