GENETICS 2

GROUP 5
OUR GROUP MEMBERS
Nguyễn Trần Quý Hân – BTBTWE21081

Dương Thị Anh Tâm – BTBTUN21031

Đỗ Quang Huy – BTBTIU21206

Ngô Thị Thu Hoài – BTBTIU21055

Lê Trần Bảo Khanh – BTBTIU21062

OUTLINES
01
The Molecular Basis of Inheritance

02
From Gene to Protein

03
Regulation of Gene Expression
 01
Explain how phenotypic expression in the
heterozygote differs with complete dominance,
incomplete dominance, and codominance.
What is Dominance?

Relation between alleles

of a gene in which the
effect on the phenotype
of 1 allele outweighs the
Allele: different
contribution of another
version of a gene
allele at the same locus.
 Types of Dominance
● Complete dominance: phenotypes of the heterozygote and
dominant homozygote are identic, common in nature.

● Incomplete dominance: phenotype of F1 hybrids is between

the phenotypes of the 2 parental varieties.

● Codominance: 2 dominant alleles affect phenotype in

separate, distinguishable ways.
Phenotypic Expression
Complete Incomplete Codominance
Dominance Dominance
Dominant allele masks Heterozygous phenotype Both dominant alleles
effect of recessive allele is intermediate expressed side-by-side
 02
Explain why lethal dominant
genes are much rarer than
lethal recessive genes.
 LETHAL GENES
Recessive Lethal Genes
• Be tolerated in the heterozygous • Mutation behaves in heterozygous
and homozygous dominant state.
• Mutation behaves in the
homozygous recessive state.
• Homozygous recessive
individuals will not survive.
 Doesn’t prevent reproduction
 be passed down through many
generations.
Dominance Lethal Genes
and homozygous dominant state
but not behaves in homozygous
recessive.
• Heterozygote and dominant
homozygote will not survive.
 Prevent reproducing regardless of
the paired gene  be removed
from the gene pool when appears.
 P: AA x AAy
F1: 50% AA; 50% AAy
 All survive

P: AAy x AAy
F1: 25% AA
50% AAy
25% AyAy
 Only homozygous
recessive individuals
(AyAy) die (25%) Lethal Recessive Gene
Huntington disease
HH = Huntington – dies
Hh = Huntington – dies
hh = normal

 Only homozygous
recessive individuals
survive

Lethal Dominant Gene

 03
Outline the process of DNA replication:
What is required?
Process of DNA replication
First stage

Initiation
Next stage

Elongation
Last stage

Termination
 INITIATION
Initiate DNA replication protein: recognize the specific sequence of origins of replication
DNA helicase: unwinding and opening origin
Single-strand DNA binding proteins: keep it open 
Topoisomerases: break and rejoin strands, resolving knots and strains that occur.
INITIATION
 ELONGATION
DNA polymerase III only add nucleotides
to the 3' end.
- Primase: synthesize the primer (RNA
chain ~10 ribonucleotides).
- DNA polymerase III: add nucleotides
starting to the 3’ end of the RNA primer.
- The RNA primer is later degraded
and replaced with DNA.
Synthesis in 5’- 3’ direction.
Leading strand: replication occurs
continuously.
Lagging strand: replicate in small
parts = Okazaki fragments (100-1000nu)
(these fragments are later connected
by DNA ligase.)
 TERMINATION
DNA ligase:
+ On lagging strand: joins Okazaki
fragments.
+ On leading strand: joins 3’ end of
DNA that replaces primer to the rest
of leading strand DNA.

Proof-reading and repairing DNA:

Nuclease: cut the DNA strand at 2
points, with the mismatch in between.
DNA polymerase I: fill in the missing
nucleotides.
DNA ligase: seal the free end,
making the strand complete.
 04
Describe replicating at the ends of eukaryotic
chromosomal DNA. How telomerase enzymes
lengthen telomeres?
Telomere’s problem
Telomere - the ends of
chromosomes: the 5’ end
RNA primer cannot be
replaced with DNA,
creating 5’ end gaps.
 chromosomes shorten
at the ends with each
cell generation.
 Telomerase
• Telomerase lengthen
telomeres => compensate
for the shortening.
• Telomerase has its own
RNA molecule - template to
extend the leading strand,
allowing the lagging strand
to maintain a given length.
 05
What are the structural and functional
differences between mRNA, tRNA, and rRNA?
 Differences in Structure
rARN mARN tARN
• Spherical and has a complex structure • Linear structure • Cloverleaf shape
• Prokaryotic and eukaryotic cells • In mammals, mRNAs • 76 to 90 nucleotides
contain different rRNA, respectively in are 300 to 12000
different ribosomal subunits.
nucleotides long
 Differences in Function
rARN mARN
• Facilitate the association • Provide a template, carry
of ribosomes. genetic information contained
• Codons or anticodons in DNA for protein synthesis.
are absent. • Carry codons for the
translation process.
tARN
• Carry specific amino
acids to ribosomes for
protein synthesis.
• Carry anticodons, specific
to a particular amino acid.
 06
What is the difference between transcription
and translation. Describe the events of
initiation, elongation, and termination of
transcription and translation.
 Transcription
- First step in gene expression, copying a
gene to make RNA.
- Performed by enzymes RNA polymerases
that link nucleotides to form an RNA
strand (using a DNA strand as a template).
- In eukaryotes, RNA must be processed
after transcription: are spliced and have a 
5' cap and poly-A tail put on their ends.
- Is controlled separately for each gene in
your genome.
Translation
“Decoding” mRNA and
using its information to
build a polypeptide, or
chain of amino acids.
 TRANSCRIPTION VS TRANSLATION

Transcription
Process by which information
in a strand of DNA is copied
into a new molecule of mRNA.
(DNA mRNA)
Translation
Process of translating the
sequence of a mRNA to a
sequence of amino acids
during protein synthesis.
(mRNA  protein)
Transcription VS Translation
 INITIATION
Transcription Eukaryotic translation
- RNA polymerase - tRNA carries methionine
binds to promoter, attaches to small ribosomal
separates the DNA subunit.
strands, providing - Together, they bind to the 5'
single-stranded end of mRNA by recognizing
template needed the 5' GTP cap.
for transcription. - Then, they “read" along the
mRNA in the 3' direction, stop
when they reach start codon.
Bacterial translation
- Small ribosomal subunit
attaches directly to certain
sequences in the mRNA.
- These Shine-Dalgarno 
sequences come just
before start codons and
"point them out" to the
ribosome.
 Translation Initiation
in Eukaryotic and Bacterial Cell
• Bacterial genes are often transcribed in groups
(operons)  bacterial mRNA contain coding
sequences for several genes.
• A Shine-Dalgarno sequence marks the start of
each coding sequence, letting the ribosome find
right start codon for each gene.
ENLONGATION

Transcription VS Translation
 ENLONGATION
Transcription
- The template strand of DNA acts as a
template for RNA polymerase to "reads" it 1
base at a time.
- The polymerase builds RNA out of
complementary nucleotides, making a
chain that grows from 5' to 3'.
- The RNA transcript carries the same
information as the non-template (coding)
DNA strand, but it contains the base uracil
(U) instead of thymine (T).
Translation
- Methionine-carrying tRNA starts out in the middle
slot of ribosome (P site).
- A fresh codon is exposed in A site ("landing site”
for next tRNA), anticodon is a perfect
(complementary) match for the exposed codon.
- Formation of the peptide bond that connects 1
amino acid to another, transfers methionine onto the
amino acid of the second tRNA in the A site.
- Once peptide bond is formed, mRNA is pulled
onward through the ribosome by 1 codon, allows the
first, empty tRNA to drift out via the E ("exit") site.
- It also exposes a new codon in the A site, so the
whole cycle can repeat.
 TERMINATION
Transcription
- Terminators signal RNA
transcript is completed
 Transcript be released from
RNA polymerase.
- DNA winds again.
Translation
- Stop codon in mRNA (UAA, UAG, or UGA) enters
A site.
- Stop codons are recognized by release factors,
which fit into the P site.
- Release factors mess with the enzyme that
normally forms peptide bonds: make it add a water
molecule to the last amino acid of the chain 
separates the chain from tRNA  releases amino
acid chain.
- Small and large ribosomal subunits separate, take
part in another round of translation.
 07
Explain how eukaryotic genes can be
coordinately expressed.
• Unlike the genes of a prokaryotic
operon, each of the coordinately
controlled eukaryotic genes has a
promoter and control elements.

• These genes can be scattered

over different chromosomes, but
each has the same combination
of control elements.

• Copies of the activators recognize

specific control elements and
promote simultaneous
transcription of the genes.
GENES EXPRESSED COORDINATELY

Associated with specific regulatory DNA

sequences or enhancers that are recognized
by a single type of transcription factor that
activates or represses a group of genes in
synchrony.
 Mechanism of Hormone Action

Steroids activate protein receptors which activate genes cellular differentiation

the genes produce particular sets of proteins which go on and off
 08
What is epigenetic Inheritance? Explain how
histone acetylation affects chromatin structure
and the regulation of transcription.
What is Epigenetic Inheritance?
• Transgenerational epigenetic inheritance: transmission of
epigenetic markers from 1 organism to the next that affects
the traits of offspring without altering DNA primary structure.
• “Epigenetic inheritance" = cell–cell + organism–organism
information transfer.
• 2 levels of epigenetic inheritance are equivalent in
unicellular organisms, but still have distinct mechanisms and
evolutionary distinctions in multicellular organisms.
• Environmental factors: induce the epigenetic marks for
some epigenetically influenced traits.
 Example

Transgenerational
epigenetic
inheritance of
Breast cancer
 Affects of Histone Acetylation
- Histone acetylation
weakens the association
of histones with DNA
 Altering nucleosomal
conformation and stability
- Chemical modifications
to histones play a direct
role in regulation of gene
transcription.
 Affects of Histone Acetylation
- Histone tails are accessible to
various modifying enzymes
 catalyze addition or removal of
specific chemical groups.
- Histone acetylation enzymes
promote the initiation of transcription.
 OVERALL
• Acetylation of histones:
increase the expression of genes
through transcription activation.
• Deacetylating the histone tails
 DNA tightly wrapped around
histone cores  transcription factors
harder to bind to the DNA.
 09
Explain the role of promoters, enhancers,
activators, and repressors in
transcription control.
 PROMOTERS
Is a DNA sequence, which is immediately
upstream of the coding sequence and
Includes within it the transcription start point

Roles: RNA polymerase binds on the

the promoter, therefore determining:
• Where transcription starts
• Which of the two strands of the DNA helix
is used as the template.
In eukaryotes, there are also many
transcription factors bind on promoters as
well.
ENHANCERS & ACTIVATORS
Is a group of distal control elements found
in eukaryotic cells.
A given gene may have multiple enhancers,
active independently.
Activators: is a protein that increases the
transcription.
Roles: 
•Enhancer regions are binding sequences
for transcription activators.
•The activators bind to certain mediator
proteins and general transcription factors
form an active transcription initiation
complex on the promoter and influence
Transcription from far away.
REPRESSORS
Are binding proteins
Roles: 
• Remove acetyl groups from
Histones to reduced transcription,
a phenomenon referred to as
silencing.
• Prevent RNA polymerase from
sliding on the DNA
 transcription stopped.
 10
Why is the regulation of gene expression
important? How can, for example, a cell in the
retina of your eye makes different proteins
from a cell in your liver when both cells
have exactly the same DNA?
Regulation of gene expression important because:

• Conserves energy and space.

• Ensures the balance of gene products in the body.
• Differentiates the function of cells and genes.
• Diversifies the traits of organisms in different
environments.
 How can a cell in the retina of your eye makes
different proteins from a cell in your liver when
both cells have exactly the same DNA?
• The cells differentiate at the early period of pregnancy and develop into different
cell types.

• Each cell type has its own function to respond to surrounding stimuli
 requires different genetic products  regulation of gene expression occurs.

• A cell in the retina of your eye and cell in your liver perform different functions so
particles of the DNA that are unnecessary for the cells will be silenced while the
opposite ones are promoted. 

• Thus, even having the same DNA but the two cell above makes different proteins.
Thank you for your listening!