Module 2:
Transcription &
Translation
PTUK
Molecular Genetics
Sabha Rabaya, MSc
08/09/2025 07:56 PM 1
Learning Outcomes
• By the end of this module, students will be able to:
• Define genes and describe their structure and function, with a particular focus on genes in
human beings
• Explain the concept of the central dogma of molecular biology and outline the processes
involved in gene expression
• Describe the process of transcription, including the roles of RNA polymerase, promoters,
and regulatory elements
• Explain the process of translation, detailing the roles of mRNA, tRNA, ribosomes, and the
genetic code
• Demonstrate an understanding of how genetic information is transferred from DNA to
functional proteins
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Chromosomes: In Human Beings
Human Karyotype: 46,XY
Autosomes
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Sex chromosomes
Chromosomes: In Human Beings
• 46 chromosomes (Diploid cells)
• Human cells are diploid
• 23 pairs : 22 pairs autosomes, 1 pair sex chromosomes ( XY in
males, XX in females)
• Members of a pair of chromosomes: homologous chromosomes
or homologues: the order of genes on both chromosomes
is the same
• Gene density
• Locus (pleural Loci): a segment of DNA occupying a particular
position or location on a chromosome
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Chromosomes: In Human Beings
• Chromosomes range in size from
50 million to 300 million base pairs of DNA
• Visualized in metaphase of mitosis
when DNA is condensed
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Chromosomes: In Human Beings
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Genes
• What is a gene?
Simply it is a sequence of DNA that encodes the information necessary to
make a protein (or a functional RNA).
• Each chromosome carries a different subset of genes that are arranged
linearly along its DNA. E.g. Chromosome 1 contains ~2000 gene
• Two general types of gene, those whose product is a protein and those
whose product is a functional RNA.
‒ Protein-coding genes : 20,000-25,000
‒ RNA-coding genes (noncoding genes): 20,000-25,000
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Genes
• Gene is the basic functional unit of hereditary.
• The whole genome of an organism can be divided into genes.
• The genes code for proteins in a series of processes which are the building
blocks of life.
• There are several types of genes with specific functions and positions.
• Within a genome, there are various coding and non-coding regions.
• The genomes of eukaryotes and prokaryotes are distinguished by the amount
of non-coding regions present.
• The genes are located on the chromosomes at a specific location called
the locus.
• The genes and the DNA are compactly packed in the chromosome.
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Genes
HAMP gene location:
• Each gene has a specific location on one of the 24 19q13.12
chromosomes ( gene locus)
• Alternative versions of the DNA sequence at a locus are
called alleles.
• Genotype and Phenotype
Genotype: allele combination in an individual that
causes a specific trait
Phenotype: the trait expressed from the genotype
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Genes Alleles :
Homozygous alleles
locus Heterozygous alleles
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Gene Structure
• Key components of a eukaryotic gene include:
• Promoter: This region signals where transcription should begin and serves as a binding site
for RNA polymerase .
• Exons: These are the segments of the gene that contain the protein-coding information and
are ultimately expressed. They are retained in the mature messenger RNA (mRNA) molecule .
• Introns: These are non-coding intervening sequences located between exons. Both exons
and introns are transcribed into a primary RNA transcript, but introns are removed during a
process called splicing to form the mature mRNA . Introns can be considerably longer than
exons .
• 5' Untranslated Region (5' UTR) Located at the beginning of the gene before the start codon,
this region is transcribed but not translated into protein. It plays a role in mRNA stability and
translation initiation .
• 3' Untranslated Region (3' UTR) Found at the end of the gene after the stop codon, this
region is also transcribed but not translated. It influences mRNA stability and translation .
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Gene Structure
• Key components of a eukaryotic gene include:
• Terminator Sequences These sequences signal the end of transcription and lead to the
release of the newly synthesized RNA transcript .
• Enhancers and Silencers These are regulatory sequences that can be located far from the
gene itself. Enhancers increase the rate of transcription, while silencers reduce gene
expression .
• Polyadenylation (PolyA) Signal Located at the end of the gene, this signal indicates where a
poly-A tail (a series of adenine nucleotides) should be added to the mRNA, which helps
stabilize the mRNA and direct its transport
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Gene Organization and Structure
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Genes specify functional products (such as proteins)
• Each gene provides instructions for a functional product, that is, a molecule
needed to perform a job in the cell. In many cases, the functional product of a
gene is a protein.
• The functional products of most known genes are proteins, or, more accurately,
polypeptides. Although many proteins consist of a single polypeptide, some are
made up of multiple polypeptides. Genes that specify polypeptides are called
protein-coding genes.
• Not all genes specify polypeptides. Instead, some provide instructions to build
functional RNA molecules, such as the transfer RNAs and ribosomal RNAs that
play roles in translation.
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How does the DNA sequence of a gene specify a particular protein?
• Many genes provide instructions for building polypeptides. How, exactly, does DNA direct
the construction of a polypeptide? This process involves two major steps: transcription
and translation.
• In transcription, the DNA sequence of a gene is copied to make an RNA molecule. This step
is called transcription because it involves rewriting, or transcribing, the DNA sequence in a
similar RNA "alphabet." In eukaryotes, the RNA molecule must undergo processing to
become a mature messenger RNA (mRNA).
• In translation, the sequence of the mRNA is decoded to specify the amino acid sequence
of a polypeptide. The name translation reflects that the nucleotide sequence of the mRNA
sequence must be translated into the completely different "language" of amino acids.
• Thus, during expression of a protein-coding gene, information flows from DNA to RNA to
protein. This directional flow of information is known as the central dogma of molecular
biology. Non-protein-coding genes (genes that specify functional RNAs) are still transcribed
to produce an RNA, but this RNA is not translated into a polypeptide. For either type of
gene, the process of going from DNA to a functional product is known as gene expression.
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The Central Dogma
Francis Crick in 1958
“The central dogma states that once ‘information’ has passed
into protein it cannot get out again. The transfer of information
from nucleic acid to nucleic acid, or from nucleic acid to protein,
may be possible, but transfer from protein to protein, or from
protein to nucleic acid, is impossible. Information means here the
precise determination of sequence, either of bases in the nucleic
acid or of amino acid residues in the protein.”
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How does the DNA sequence of a gene specify a particular protein?
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DNA Transcription
• Transcription is the first stage of gene expression. The purpose of transcription is to
create messenger RNA (mRNA) from an existing DNA strand.
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DNA Transcription: Initiation
• Transcription initiation begins with the
assembly of RNA polymerase and transcription
factors at the promoter
• The promoter, typically situated upstream of
the gene, serves as a regulatory element that
guides the binding of RNA polymerase and the
formation of the pre-initiation complex (PIC)
• The promoter DNA is recognized by various
initiation factors, which facilitate the correct
assembly of the PIC
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DNA Transcription: Initiation
• DNA Unwinding: Following the binding, the DNA is bent and unwound to form the RNAP-
promoter open complex (RPo), positioning the template strand for RNA synthesis
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DNA Transcription: Initiation
• Abortive Initiation: During the initial phase, RNAP may synthesize short transcripts in a
process referred to as abortive initiation, governed by a scrunching mechanism, before
proceeding to elongation
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DNA Transcription
• Transcription uses one of the two exposed DNA strands as a template; this strand is
called the template strand. The RNA product is complementary to the template strand
and is almost identical to the other DNA strand, called the non-template (or coding)
strand. However, there is one important difference: in the newly made RNA, all of the T
nucleotides are replaced with U nucleotides.
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DNA Transcription: Initiation
https://www.youtube.com/watch?v=_Zyb8bpGMR0
RNA Polymerase
• The major enzyme used in DNA transcription is RNA polymerase. In eukaryotes, three types of
RNA polymerase are used (I, II, and II). However, in prokaryotes, only one type of RNA
polymerase is used. RNA polymerase uses a single-stranded DNA template to synthesize a
complementary strand of RNA. Specifically, it builds an RNA strand in the 5 ′ to 3 ′ direction.
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DNA Transcription: Initiation
https://www.youtube.com/watch?v=_Zyb8bpGMR0
• The promoter includes the first base pair that is transcribed into RNA (the start
point). From this position, RNA polymerase moves along the template, synthesizing
RNA until it reaches a terminator sequence, where the transcript ends. Thus, a
transcription unit extends from the promoter to the terminator.
• Sequences prior to the start point are described as upstream of it; those after the
start point (within the transcribed sequence) are downstream of it. Sequences are
usually written so that transcription proceeds from left (upstream) to right
(downstream). This corresponds to writing the mRNA in the usual 5′→3′ direction
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DNA Transcription: Elongation
• Once transcription initiation is established, the elongation phase begins. During
elongation, RNAP progresses along the DNA template, adding nucleotides to the
growing mRNA strand by incorporating complementary bases
• The enzyme reads the unwound DNA strand and synthesizes the mRNA in a 5' to 3'
direction, where adenine (A) in the DNA pairs with uracil (U) in the RNA
• This elongation phase continues as RNAP moves along the DNA, elongating the
mRNA transcript until it reaches a termination signal.
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DNA Transcription: Termination
• Termination marks the conclusion of
the transcription process and occurs
when RNAP encounters a specific
sequence in the gene known as the
termination signal. This sequence
prompts the enzyme to cease RNA
synthesis and dissociate from the
DNA template, releasing the newly
synthesized mRNA strand
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Key Points
• Key points:
• Transcription is the process in which a gene's DNA sequence is copied
(transcribed) to make an RNA molecule.
• RNA polymerase is the main transcription enzyme.
• Transcription begins when RNA polymerase binds to a promoter sequence
near the beginning of a gene (directly or through helper proteins).
• RNA polymerase uses one of the DNA strands (the template strand) as a
template to make a new, complementary RNA molecule.
• Transcription ends in a process called termination. Termination depends on
sequences in the RNA, which signal that the transcript is finished.
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