Topic 4

Genetics,
Classifications
and Evolution
 2

Introduction
× According to Cell Theory, all organisms were derived
from a single cell

× But how cells diverse from each other?

× How to classify them?

× How to determine how different they are?

 3

Introduction
× What cause the diversity of organisms and evolution?

× How to classify organisms?

× How to study the evolutionary relationship?

 4

1.
The Sources of
Diversity
Mutations, Genome Structure, and Population
Genetics
 5

Phenotype and Genotype

× Phenotype
× The physical appearance or biochemical characteristic (result) of
an organism as a result of the interaction of its genotype (cause)
and the environment (cause).

× Genotype
× The entire set of genes in an organism
× A set of alleles that determines the expression of a particular
characteristic or trait
 6

Genetic Combination of
Human/Eukaryotes

Sexual Reproduction
 7

Genetic Combination of Human/Eukaryotes

× Each human has a two sets of DNA (2n) DNA Recombination

× Each gene has two alleles in an individual (there can be many

types of allele for a gene at population level

× One member of a pair (or any of the series) of gene occupying a

specific spot on a chromosome
 8

Genetic Diversity
× Diversity of phenotype is due to the diversity of environmental exposure
and genetic diversity

× Genetic diversity at individual level originates from

× Sexual reproduction

× Recombination of DNA (mixing the combination of alleles)

× Spontaneous mutation

× Mutation is the ultimate sources of all genetic diversity

Raven P., Johnson G., Mason K., Losos J., and Singer S. (2017). Biology (11Ed). New York: McGraw-Hill
 9

1.1
Mutations
Reading: Chapter 15.9
 10

Terminology
× Mutation
× A permanent, heritable change in the nucleotide sequence in a gene
or a chromosome;
× The process in which such a change occurs in a gene or in a
chromosome

× Mutant
× An individual organism exhibiting/carrying such a change
 11

Types of Mutation
× Point mutation (within a gene / small scale)
× Single nucleotide variation (SNV)
× The mutation/changes of a single nucleotide in DNA
× Due to error in DNA replication

× Chromosomal mutation (large structural change)

× The structural changes of a chromosome
× Usually due to error in DNA replication and DNA recombination
 12

Point Mutations
× Base substitutions
× The substitution of one base for another

× Nonsense mutation
× A substitution mutation which leads to a stop codon

× Frameshift mutation
× An addition or deletion of a single base changing the reading frame of
a gene

× Triplet repeat expansion mutation

 13

Base Substitution

× Transition (purine to purine / pyrimidine to pyrimidine)

× Transversion (purine to pyrimidine and vice versa)
 14

Base Substitution
× Base substitution does not necessarily result
in changes in amino acid

× Silent mutation
× Base substitution which does not
change the encoded amino acid

× Missense mutation

× Due to the degenerative nature of genetic

code

https://www.smartsrl.net/the-useful-codon-table-that-is-needed-in-medical-science/mrna-codon-table/
 15

Frameshift Mutations
× AUGUUUUCUCAUAGUUGG

× AUGUUUCUCAUAGU

× AUGUUUUCAUCAUAGU

https://www.smartsrl.net/the-useful-codon-table-that-is-needed-in-medical-science/mrna-codon-table/
 16

Frameshift Mutations
× AUG-UUU-UCU-CAU-AGU-UGG
× MET- PHE-SER- HIS – SER - TRP

× AUG-UUU-CUC-AUA-GUU-GG
× MET- PHE-LEU-ILE-VAL
Deletion
× AUG-UUU-UCA-UCA-UAG-UUG-G
× MET-PHE-SER-SER
Insertion

https://www.smartsrl.net/the-useful-codon-table-that-is-needed-in-medical-science/mrna-codon-table/
 17

Frameshift Mutations
× Effect of frameshift mutation is usually more significant than base
substitutions

× Most protein part will be affected due to the significant difference in the
primary structure

× High probability to premature termination of protein

https://biologydictionary.net/frameshift-mutation/
 18

Triplets Repeat Mutations

> 35 repeats in
HTT gene

https://ghr.nlm.nih.gov/condition/huntington-disease
Huntington Disease
 19

Chromosomal Mutations
× Deletion
× Loss of a portion of chromosome
× Can cause frameshift mutation / large portion of chromosome

× Duplications
× May or may not lead to phenotypical changes
× Depends on breakpoints

× Inversion
× An inverted chromosome

× Translocation
× Part of a chromosome joined to another one
 20

Haplotypes
Chromosomal Mutations
× Deletion
× Loss of a portion of chromosome
× Can cause frameshift mutation
× large portion of chromosome

× Duplications
× May or may not lead to
phenotypical changes
× Depends on breakpoints Breakpoint

Raven P., Johnson G., Mason K., Losos J., and Singer S. (2017). Biology (11Ed). New York: McGraw-Hill
 21

Chromosomal Mutations

× Inversion
× An inverted chromosome

× Translocation
× Part of a chromosome joined to
another one

Raven P., Johnson G., Mason K., Losos J., and Singer S. (2017). Biology (11Ed). New York: McGraw-Hill
 22

Mutation and Gene Expression

× Gene mutations do not just affect the primary structure of proteins but also
the expression of proteins

Raven P., Johnson G., Mason K., Losos J., and Singer S. (2017). Biology (11Ed). New York: McGraw-Hill
 23

2.
Basic Mendelian
Genetics
How different alleles are passed to offspring

Reading: Chapter 12

Raven P., Johnson G., Mason K., Losos J., and Singer S. (2017). Biology (11Ed). New York: McGraw-Hill
 24

Mendel’s Laws
× Gregor Mendel is the founder of modern genetics

× The three Mendel’s laws (1865)

1822 - 1884
× Mendel’s Principle of Segregation
× Mendel’s Principle of Independent Assortment
× Mendel’s Principle of Dominance

× Traits that follow these laws are called Mendelian traits / inheritance

× Those that don’t are called non-Mendelian traits

/ inheritance
 25

Gregor Mendel’s Experiment

× Studying seven traits of pea plant flowers

× Advantages of Mendel’s experiment

× Earlier for investigators to produce hybrid peas by crossing different
varieties

× Large number of pure and distinguishable varieties of peas were

available

× Pea plants are small and easy to grow, and have a relatively short
generation time

× Both male and female sexual organs are enclosed within each pea
flower. Gametes produced can fuse to form viable offspring by self-
fertilisation
 26

Laws of Mendelian Inheritance

× Gregor Mendel is the founder of modern genetics

× The three Mendel’s laws

× Mendel’s Principle of Segregation
× Mendel’s Principle of Independent Assortment
× Mendel’s Principle of Dominance

× Traits that follow these laws are called Mendelian traits / inheritance

× Those that don’t are called non-Mendelian traits

/ inheritance
 27

The Principle of Segregation

Monohybrid × Monohybrid cross is a cross (the mating of the sex cell of the
cross
two sexes) that follows only two variations (phenotype) on a
single trait (gene)

× Observations
Self-fertilization × Offspring of First Filial (family) Generation (F1) has no
of F1
intermediate colour (e.g. pink)
× All F1 are purple colour
× Purple is dominant trait; White is recessive traits
(purple is a stronger phenotype)
× F2 generation exhibits a 3:1 ratio
of both traits
× F2 generation exhibits 1:2:1 ration
of genotype
 28

The Principle of Segregation

× Conclusion drawn by Mendel
× Plants did not produce intermediate traits
× One trait did not express in F1 hybrids but re-appear
in F2 was latent (not destroyed by stronger
trait/phenotype) in F1 hybrids
× F2 generation in the ratio of 3:1
(Mendelian Ratio)
× The pair of alternative traits examined
were segregated
× The two alleles for a gene segregate during
gamete formation and are re-joined at random,
one from each parent, during fertilisation
 29

The Principle of Segregation

× The Punnett square

× Calculate the probability of F2 heterozygous and

F2 homozygous using probability

Heterozygous

Homozygous recessive
 30

The Principle of Segregation

× Testcross of an individual of unknown genotype
with a homozygous recessive individual

× If there is a recessive individual in F1 generation,

the genotype of the subject must be heterozygous

× If there is no recessive individual in F1 generation,

the genotype of the subject must be homozygous
dominant
 31

The easiest explanation of Principle

of Segregation
× The two alleles of an individual can separate
and match/cross randomly with anyone of
alleles of another individual
 32

The Principle of Independent Assortment

× dihybrid cross is a cross that follows only four
variations on two traits

× Observations
× From total 556 seeds of self-fertilised
dihybrid
× 315 round & yellow
× 108 round & green
× 101 wrinkled & yellow
× 32 wrinkled & green
× Near the 9:3:3:1 ratio
 33

The Principle of Independent Assortment

× In a dihybrid cross, the segregation of different allele pairs (gene) is independent

Haplotypes

Breakpoint
 34
Assumptions of Laws of Mendelian
Inheritance
× Each trait is specified by a single gene with two alternative alleles

× The trait is not affected by environmental factor

× The gene products of the two studied genes act independently

 35

Current Understanding in Genetics

× A single trait can be affected by more than one genes (polygenic inheritance; e.g.
eye colour)

× A single gene can affect multiple traits (pleiotropic; e.g. yellow fur gene in mice)

× Gene may have more than two alleles (most genes in an outbreeding population)

× Dominance is not always complete

× Incomplete (e.g. Japanese four o’clock flower)
× Codominance (e.g. ABO blood group)

× Some genes are usually inherited together

 36

3.
Population
Genetics
The study of allele frequency in population
 37

Definition of Classification
× How we place organisms into taxonomic hierarchy

× Taxonomy – the science of classifying living things

× Organisms are organised into taxon (taxa) of different levels

× Each organisms is given a specific scientific name

× Domain, Kingdom, Phylum, Class, Order, Family, Genus, Species

× Dump and Kind Professor Can’t Often Fail Good Students

 38

Taxon and Scientific Name

× Taxon
× Hierarchical system
× Domain, Kingdom, Phylum, Class, Order, Family, Genus, Species
× Dump and Kind Professor Can’t Often Fail Good Students

× Scientific Name / Species name

× Binomial name
× Genus species
× G. species
× Genus species
 39

Assumptions of Systematics Study

× All organism descended from a single
ancestor

× The modification of a common ancestor

results in all species being related to a
branching
 40

× Which organism has a close evolutionary

relationship with human?
 41

How to Study Evolutionary Relationship

× The study of evolutionary relationship is
not dependent on the phenotypic (apparent)
similarities

× The study is dependent on shared derived

characters
 42

Readings
× Classification
× Chapter 23.3 Systematics and Classification

Your audience will listen to you or read the content,

but won’t do both.