SCI Q3 3 TYPES OF RNA:

PROTEIN SYNTHESIS 1. Messenger RNA (mRNA)

- transcribes the DNA nucleotide bases to RNA
What is protein synthesis? nucleotide bases
- the process of creating protein molecules. In 2. Ribosomal RNA (rRNA)
biological systems, it involves amino acid - binds the mRNA and tRNA to ensure that codons are
synthesis, transcription, translation, and post- translated correctly
translational events. 3. Transfer RNA (tRNA)
- translates the mRNA codons into the correct amino
Our hair, skin and nails are made up of proteins. acids

What are proteins? 2 STAGES OF PROTEIN SYNTHESIS

- composed of amino acids linked together by 1. TRANSCRIPTION
peptide bonds. 2. TRANSLATION

What are the roles and functions of proteins? CODON

 channels in membranes – control the - three-letter genetic sequence found in both
movement of DNA and RNA
 molecules in and out of the cell - codes for a specific amino acid, or start and
 structural molecules – for example, making stop signals, for the protein synthesis process
up hair or muscle in animals
 hormones – to regulate the activity of cells
 antibodies – in the immune system
 enzymes – to act as catalysts in biological
systems

IMPORTANT CODONS
START CODONS: AUG (starts the translation
DNA (deoxyribonucleic acid) and stage)
RNA (ribonucleic acid) STOP CODONS: UAG, UGA, UAA (stops the
- work together to produce proteins from translation stage)
genetic codes
TRANSCRIPTION (inside nucleus)
Genetic codes - found in DNA or RNA which is made - DNA – mRNA
up of nucleotide bases - mRNA – protein
- usually in three’s (triplet) that code for
the amino acids making up the proteins 3 STAGES OF TRANSCRIPTION:
• INITIATION
• ELONGATION
• TERMINATION
 TRANSCRIPTION
- first step in gene expression
- copying a gene's DNA sequence to make an
RNA molecule
- performed by enzymes called RNA
polymerases which link nucleotides to form
an RNA strand (using a DNA strand as a
template)

DNA strand have, a sense strand, or coding strand, is

the segment within double-stranded DNA that WHAT DO 5' AND 3' MEAN?
carries the translatable code in the  two ends of a strand of DNA or RNA strand
5′ to 3′ direction, and which is complementary to are different from each other
the antisense strand of DNA, or template strand,  DNA or RNA strand has directionality.
which does not carry the translatable code in the 5′ 5’ END - phosphate group of the first nucleotide in the
to 3′ direction. chain sticks out.
- attached to the 5' carbon of the sugar ring
STAGES OF TRANSCRIPTION 3’ END - hydroxyl of the last nucleotide added to the
chain is exposed
1. INITIATION - attached to the 3' carbon of the sugar ring
- RNA polymerase binds to a sequence of DNA Many processes, such as DNA replication and
called promoter, found near the beginning of transcription, can only take place in one particular
a gene direction relative the directionality of a DNA or RNA
- Once bound, RNA polymerase separates the strand.
DNA strands, providing the single-stranded
template needed for transcription. 3. TERMINATION
- Sequences called terminators signal that the RNA
transcript is complete
- Once they are transcribed, they cause the transcript
to be released from the RNA polymerase

2. ELONGATION BACTERIA - RNA transcripts can act as messenger

- One strand of DNA, the template strand, acts as RNAs (mRNAs) right away
a template for RNA polymerase
- "reads" this template one base at a time, the EUKARYOTES - the transcript of a protein-coding gene
polymerase builds an RNA molecule out of is called a pre-mRNA and must go through extra
complementary nucleotides, making a chain that processing before it can direct translation
grows from 5' to 3'
- The RNA transcript carries the same information Eukaryotic pre-mRNAs must have their ends modified,
as the non-template (coding) strand of DNA by addition of a 5' cap (at the beginning) and 3' poly-A
- contains the base uracil (U) instead of thymine tail (at the end).
(T)
Many eukaryotic pre-mRNAs undergo splicing. In this
process, parts of the pre-mRNA (called introns) are
chopped out, and the remaining pieces (called exons)
are stuck back together.
TRANSLATION ELONGATION
- second stage of protein synthesis - amino acid chain gets longer
- where the codes in the messenger RNA is - mRNA is read one codon at a time
translated to a polypeptide that contains a - amino acid matching each codon is added to
specific series of amino acids a growing protein chain
- Amino acid bonds with each other to form - tRNAs move through the A, P, and E sites of
polypeptides which make up proteins the ribosome
- This process repeats many times as new
How is an mRNA "read" to make a polypeptide? codons are read and new amino acids are
- Two types of molecules with key roles in added to the chain
translation are tRNAs and ribosomes Each time a new codon is exposed:
• A matching tRNA binds to the codon
Transfer RNAs (tRNAs) • The existing amino acid chain (polypeptide) is linked
- has a sequence of three nucleotides called onto the amino acid of the tRNA via a chemical
an anticodon, which can bind to specific reaction
mRNA codons • The mRNA is shifted one codon over in the
- the other end of the tRNA carries the amino ribosome, exposing a new codon for reading
acid specified by the codons
- There are many different types of tRNAs
- Each type reads one or a few codons and
brings the right amino acid matching those
codons

ANTICODON - a trinucleotide sequence located at

one end of a transfer RNA (tRNA) molecule, which is
complementary to a corresponding codon in a
messenger RNA (mRNA) sequence TERMINATION
- finished polypeptide chain is released
RIBOSOMES - begins when a stop codon (UAG, UAA, or
- structures where polypeptides (proteins) are UGA) enters the ribosome, triggering a
built series of events that separate the chain from
- made up of protein and RNA (ribosomal its tRNA and allow it to drift out of the
RNA, or rRNA) ribosome
- Each ribosome has two subunits, a large one
and a small one, which come together After termination, the polypeptide may still need to
around an mRNA fold into the right 3D shape, undergo processing (such
- provides a set of handy slots where tRNAs as the removal of amino acids), get shipped to the
can find their matching codons on the mRNA right place in the cell, or combine with other
template and deliver their amino acids polypeptides before it can do its job as a functional
- slots are called the A, P, and E sites protein
- also acts as an enzyme, catalyzing the
chemical reaction that links amino acids
together to make a chain

INITIATION
- ribosome assembles around the mRNA to be
read and the first tRNA (carrying the amino
acid methionine, which matches the start
codon, AUG)
- initiation complex, is needed in order for
translation to get started
 SCI Q3 3 TYPES OF SUBSTITUTION MUTATION
MUTATION  NONSENSE
 MISSENSE
MUTATION  SILENT MUTATION
- changes to a DNA sequence, either due to
mistakes when the DNA is copied or as the  NONSENSE MUTATION
result of environmental factors such as UV - results in the formation of a stop codon due
light and cigarette smoke and are the main to the substitution of one nitrogenous base.
cause of diversity among organisms - Duchenne muscular dystrophy
- occurs during DNA replication, thus - Cystic fibrosis
transcription into mRNA is anomalous - Hemophilia
- Just like the information in DNA as a group - Cancers
of sentences, mutations are mistakes in - Metabolic disorders
spelling of the words that form those - Neurological disorders
sentences

 MISSENSE MUTATION
- When one nitrogenous base of the DNA is
replaced and the result is an altered codon
but does not form a stop codon
- Sickle cell anemia - genetically inherited
blood disease wherein the red blood cells
(RBCs) become crescent or “sickle” shaped

This will create a different amino acid in protein

synthesis. Example: DNA: CAT to mRNA : GUA to tRNA
CAU (Valine) CAT is changed into CCT to mRNA: GGA
MUTAGENS to tRNA: CCU (Glycine)
- agents that cause alteration in the DNA
- can lead to permanent mutations in the DNA
sequence depending on the ability of an
organism to repair the damage
- radioactive substances, x-rays, ultraviolet
radiation, and certain chemicals or drugs

DIFFERENT TYPES OF MUTATIONS

 POINT MUTATION
 FRAMESHIFT MUTATION

POINT MUTATION
- type mutation in DNA or RNA wherein one
single nucleotide base is deleted, added or
altered
- can lead to substitution mutation
  SILENT MUTATION  INVERSION
- nitrogenous base is altered but the same - when a segment of a chromosome is
amino acid is produced reversed end to end
- many codons can code for the same amino - Hemophilia A- disorder in which blood
acid doesn't clot properly, is cause by an
- a gene well-known for causing breast and inversion of an intron on the gene
ovarian cancer

Example: GGC and GGU can both code for glycine. If C

is changed to a U, the same amino acid will be
produced and therefore, the amino acid will not be
changed.

FRAMESHIFT MUTATION
- normal sequence of codons is disorganized
by the insertion or deletion of one or more
nitrogenous bases, given that the number of
nitrogenous bases added or deleted is not a
multiple of three

 DELETION
- happens when a base is deleted from the
nitrogen base sequence
- abnormal protein synthesis leading to a
range of medical disorders
- Cystic fibrosis
- Turner syndrome
- Williams syndrome  INSERTION
- addition of one or more nucleotide base
pairs into a DNA sequence
- For example, some diseases caused by
insertional mutations include:
- Fragile X Syndrome- stops parts of the brain
working properly over time (inherited; fatal
if up to 20 years)
- Huntington's Disease- global developmental
 DUPLICATION delay, autism-like behaviors such as hand
- occurs when a part of a chromosome is flapping, repeating words and sentences,
copied (duplicated) too many times and difficulty with social interactions,
- This type of chromosomal change results in intellectual disability
extra copies of genetic material from the
duplicated segment
- severe neurodevelopmental disorder
characterized by early-onset hypertonia,
feeding difficulty  TRANSLOCATION
- gastrointestinal manifestations including - segments of two chromosomes are
gastroesophageal reflux and constipation exchanged
- delayed psychomotor development leading
to severe intellectual disability Translocations involving human chromosomes are of
- poor speech development great clinical interest because they have been linked
to a number of disorders, including mental
retardation, infertility, and cancer.
WHAT HAPPENS WHEN A PERSON HAS MUTATED
GENES?

SICKLE CELL ANEMIA

- caused by a recessive disorder through a
single substitution mutation in the gene that
is responsible for hemoglobin production
- Hemoglobin is known for carrying oxygen in
the blood

ALBINISM (specifically type I oculocutaneous

albinism)
- autosomal recessive disorder in which the
formation of melanin is reduced or absent in
skin, hair, and eyes due to the lack of activity
of tyrosinase
- caused by the deletion of the tyrosinase
gene.

CYSTIC FIBROSIS (CF)

- recessive inherited disorder
- deletion mutation is the most common
cause
- affects the cystic fibrosis transmembrane
conductance regulator (CFTR) gene that
leads to the deletion of the amino acid
phenylalanine
- causes an incorrect protein

DOWN SYNDROME OR TRISOMY 21

- related with slight retardation of cognitive
ability
- characterized with impairment of physical
growth, body and facial features
- caused by a translocation during meiosis
that transfers most of chromosome 21