SY12202 Genetics

Sem II, Session 2019/2020

Introduction to
genetics

Dr. Noor Hydayaty Md Yusuf

Overview (Traits, Genes, and Alleles)

Trait F Trait B Trait C Trait D Trait E Trait F Trait G

Flower Flower Seed Round Pod shape Pod color Stem

color position color length
Gene1 Purple Terminal Yellow
(Allele F) (Allele B) (Allele C)
Gene2 White Axial Green
(Allele f) (Allele b) (Allele c)
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Mendel’s work on transmission of traits

Parent: Male (P)

Parent: Female (P)

Offspring (F1)

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Mendel’s work on transmission of traits (cont.)

From his experiment,

three constant patterns
observed by Mendel are:
» Traits in an offspring are similar to the
one possessed by parents
» One trait (i.e. flower color) are
represented by 2 variants (i.e. purple
or white)
» For each trait, only one variant was
expressed by offspring

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Mendel’s work on transmission of traits (cont.)

From his experiment, Therefore, based on his observation,

three constant patterns Mendel concluded that:
observed by Mendel are: » Traits are passed from parents to offspring, which
» Traits in an offspring are similar to the controlled by discrete units of inheritance, we now call
one possessed by parents genes.
» One trait (i.e. flower color) are » Genes controlling a trait exist in pairs, we now call
represented by 2 variants (i.e. purple alleles.
or white)
» He also concluded that members of a gene pair (allele)
» For each trait, only one variant was separate from each other during gamete formation.
expressed by offspring

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Mendel’s work on transmission of traits (cont.)
Therefore, based on
his observation,
Mendel concluded
that:
» Traits are passed from
parents to offspring, which
controlled by discrete units of
inheritance, we now call
genes.
» Genes controlling a trait exist
Trait F Trait B Trait C Trait D Trait E Trait F Trait G in pairs, we now call alleles.
Flower Flower Seed Round Pod shape Pod color Stem » He also concluded that
color position color length members of a gene pair
Gene1 Purple Terminal Yellow
(allele) separate from each
(Allele F) (Allele B) (Allele C) other during gamete
formation.
Gene2 White Axial Green
(Allele f) (Allele b) (Allele c)
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 The chromosome theory of inheritance (Uniting Mendel & Meiosis)

The discovery of
chromosomes says: The discovery of mitosis & meiosis says:
» Each species has a characteristics » In mitosis, chromosomes are copied and distributed so that the two resulting
number of chromosomes called diploid daughter cells each receive a diploid (2n) set of chromosomes.
(2n) mmmmmmmmm

» Chromosomes in diploid cells exist in » In meiosis, members of a chromosome pair separate from each other during
pairs, called homologous chromosomes. gamete formation, producing cell with haploid number (n) of chromosome.

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O R G A N I C S C O M P A N Y
 The chromosome theory of inheritance (Uniting Mendel & Meiosis)
Therefore, based on
his observation,
Mendel concluded
that:
» Traits are passed from
parents to offspring, which
controlled by discrete units of
inheritance, we now call
genes.
» Genes controlling a trait exist
in pairs, we now call alleles.
» He also concluded that
members of a gene pair
(allele) separate from each
other during gamete
formation.
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O R G A N I C S C O M P A N Y
The chromosome theory of inheritance (Uniting Mendel & Meiosis)
Walter Sutton & Theodor Boveri independently noted that:

Transmission of traits Theory of Theory of Walter Sutton & Theodor Boveri Chromosome
(Mendel) chromosome Meiosis
Observation Conclusion theory of
inheritance
Genes controlling a Chromosomes in Genes and Genes resides on
trait exist in pairs diploid cells exist in chromosomes have chromosomes “Inherited traits are
pairs properties in common, controlled by genes
they exits in pair residing on
Members of a gene In meiosis, members Members of a gene Gene on chromosomes that are
pair separate from of a chromosome pair and chromosome pair chromosomes are transmitted through
each other during separate from each separate from each transmitted through gametes, maintaining
gamete formation other during gamete other during gamete gametes genetic continuity
formation formation from generation to
generation”
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 The search for the chemical nature of genes: DNA or Protein?

» By the 1920s, DNA and proteins were identified as the

major chemical components of chromosomes.
» Since proteins are the most abundant component in
cells, thus many researchers thought proteins would
be shown to be the carrier of genetic information.

Picture: Credit to the U.S. National Library of Medicine

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 Evidence that DNA, not protein, function as the T2 phage genetic materials

» Hershey-Chase
experiment, 1952, on T2
phage.
» T2 phage is known to
infect Escherichia coli (E.
coli).
» Between DNA and
Protein, which
components of T2
actually enters the E.
coli during infection?

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 Evidence that DNA, not protein, function as the T2 phage genetic materials

» Bacteriophages (Phages) = Viruses that infect

bacteria

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 Evidence that DNA, not protein, function as the T2 phage genetic materials

» Bacteriophages (Phages) = Viruses that infect

bacteria
» Phage usually composed almost entirely of
DNA and proteins.
» Able to quickly turn bacteria cell into a phage-
producing factory that released phages when
the cell ruptured.
» Somehow, phage could reprogram its host
cell to produce viruses. But which component
– protein or DNA – was responsible?

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 Evidence that DNA, not protein, function as the T2 phage genetic materials

» Hershey-Chase
experiment, 1952, on T2
phage.
» T2 phage is known to
infect Escherichia coli (E.
coli).
» Between DNA and
Protein, which
components of T2
actually enters the E.
coli during infection?

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Chromosome-DNA-Gene-Allele

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 DNA Structure & complementary relationship

» James Watson and Francis crick, 1953

» Established that the two strands of DNA are
exact complements of one another
» The double helix always consist of either:
• A-T base pair (paired by two hydrogen bonds)
• G-C base pair (paired by three hydrogen bonds)
» Complementary relationship between
adenine(A) –thymine(T) and guanine(G)-
cytosine(C) is critical to genetic function.
» This relationship serves as the bases for both
the replication of DNA and for the basis of
gene expression.

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Central Dogma & Gene expression & Protein coding

TRANSCRIPTION
» Gene expression process begins with the transcription of
DNA into RNA.
» Once an RNA molecule complementary to one strand of
DNA is transcribed (now known as messenger RNA or
mRNA), the mRNA directs the synthesis of proteins.

TRANSLATION
» Once an RNA molecule complementary to one strand of
DNA is transcribed (which called as messenger RNA or
mRNA), the mRNA directs the synthesis of proteins. The
synthesis of proteins under the direction of mRNA is called
translation.
» Proteins, as the end product of genes, are polymers made up
of amino acid monomers. There are 20 different amino acids
in living organism.
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Central Dogma & Gene expression & Protein coding

Translation (Protein synthesis

based on codon coded in mRNA) List of codons coded for 20 amino acids
Central Dogma
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Linking genotype to phenotype

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 Linking genotype to phenotype

Normal β-Globulin

Mutant β-Globulin

In sickle-cell anemia, a mutation in the gene encoding β-globin causes an amino acid substitution in 1 amino acids in the protein.
Figure shows part of the DNA sequence, mRNA codon, and amino acid sequence for the normal and mutant forms of β-globin.
Notice that the mutation leading to a change in the mRNA from GAG to GUG, which in turn changes amino acids from
glutamic(glu) to valine(val). BEST FOR You 20
O R G A N I C S C O M P A N Y
 QUESTIONS

» What is the sequence of your DNA?

» If you are having a child, are you introducing a new
traits? Yes/No? Why?
» What to change to create new traits?

Human genome = 3Gbp = 3,000,000,000 bases

1 page = 4270 bases
Human genome = 714,285 pages
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Genetics and
modern
biotechnology

22
 Discover genetics through gene and genome sequencing
» Whole genome sequencing = Determination of the DNA content
comprising the entire genome of an individual (Human, plant,
animals, bacteria = Organism).
» Leads towards a ‘full comparisons’ of genetic similarities and
differences between individual (gender, ethnics, behavior, region,
unique trait, etc), which then leads towards the findings of (See
Table 1 on page 24)

1st Generation Sequencer 2nd Generation Sequencer 3nd Generation Sequencer

(ABI Genome Analyzer) BEST FOR You
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 Discover genetics through genome sequencing
Table 1: Example on findings & impact from whole genome sequencing (Not limited to):
Findings on (Not limited to): Impact for (Not limited to):
Genes related towards diseases: Markers development for early detection and study on genes
- Development of diseases in human behavior for the design of effective treatments (Eg: Cancer
- Infection mechanism of microbes or viruses in humans markers, components of viruses for development of proper
vaccines)
Genes controlling unique traits Screening of population with unique traits; Genes can be used for
- Unique traits in human in response toward stress gene transfer to development an organism with desirable traits.
- Traits for agriculture in plant & animals
Genetic diversity and ancestry Transmission of genetic properties from generation to another,
which make possible to predict the prevalence of the newly
emerged diseases
Prediction of noble proteins coding by various genes in different For development of natural & synthetic drugs for human,
species including the endangered species. identification of sustainable bio-fertilizer for agriculture.
Discovery of new genetic behavior & biological components in an Leads towards the application and development of new
organism (Hormones, enzymes, activators, repressors, etc) techniques in Biotechnology (Eg: Genome editing utilizing CRISPR
Cas9, Gene cloning & DNA recombinant technology utilizing E. coli
replication system)
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Findings on (Not limited to):
Genes related towards diseases:
- Development of diseases in human
- Infection mechanism of microbes or
viruses in humans

Impact for (Not limited to):

Markers development for early detection
and study on genes behavior for the
design of effective treatments (Eg: Cancer
markers, components of viruses for
development of proper treatments)

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O R G A N I C S C O M P A N Y
Findings on (Not limited to): Impact for (Not limited to):
Genes controlling unique traits Screening of population with unique traits; Genes can be used for
- Unique traits in human in response toward stress gene transfer to development an organism with desirable traits.
- Traits for agriculture in plant & animals

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O R G A N I C S C O M P A N Y
Findings on (Not limited to): Impact for (Not limited to):
Genetic diversity and ancestry Transmission of genetic properties from generation to another,
which make possible to predict the prevalence of the newly
emerged diseases

Impact for (Not limited to):

Transmission of genetic properties from generation to
another, which make possible to predict the prevalence of
the newly emerged diseases

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O R G A N I C S C O M P A N Y
Findings on (Not limited to):
Discovery of new genetic behavior & biological components in an
organism (Hormones, enzymes, activators, repressors, gene
silencer, etc)

Impact for (Not limited to):

Leads towards the application and development of new
techniques in Biotechnology (Eg: Genome editing utilizing CRISPR
Cas9, Gene cloning & DNA recombinant technology utilizing E. coli
replication system)

E. Coli replication

Eg: E. Coli cell replication into DNA recombinant

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Endogenous Cas9 enzyme
gene repair mechanism

Eg: CRISPR-Cas9 - from prokaryotes defense mechanism into genome editing

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Eg: microRNA – From endogenous to custom gene silencing
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Model organism

Model organism

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 Genetic Studies rely on the use of model organism
» Model organism = Organism used for the study of basic » Some organisms were used as model organism for two
biological process, including normal cellular events as main reasons:
well as genetic disorders and other diseases.
» First reason: Genetic mechanisms were the same in
most organisms.
• All life has a common origin, and as a result, genes with
similar functions in different organisms are similar of
identical in structure and DNA sequence.
• As such, the information from the genome sequencing
project indicates that almost all these genes have human
counterparts.
» Second: These species had several advantages for
genetic research including;
• (1) They were easy to grow
• (2) Had relatively short life cycles
• (3) Produced many offspring
• (4) Genetic analysis was fairly straightforward (low number
of chromosome, small genome size, etc)

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Genetic Studies rely on the use of model organism
Table 1: Example on model organism
Model Organism Advantages as model organism Used to study (not limited to):
Nematode It is small, easy to grow, has a nervous system Nervous system and its role in behavior.
Caenorhabditis elegans with only a few hundred cells, and has an
unvarying program of cell specification during
development
Arabidopsis It a small plant with a short life cycle, that can be For the study of plant biology including
Arabidopsis thaliana grown in laboratory phase transition, flower development,
disease resistance, etc
Zebrafish It is small, reproduces rapidly, and the egg, For the study if vertebrate development and
Danio rerio embryo, and larvae are all transparent. cancer research
Fruit fly Has a short life cycle, easy to culture, breed For the study on abnormalities of nervous
Drosophila melanogaster extremely fast, manageable (low number) of system (related to brain structure, adult
chromosome onset degeneration of the nervous systems,
and visual defects.)

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Genetics, the Core Science of Biology
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