Protein Synthesis (Gene Expression)

Protein Synthesis (Gene Expression)

Proteins make up all living materials
• Proteins are composed of amino acids – there are 20
different amino acids
• Different proteins are made by combining these 20
amino acids in different combinations
• Proteins are manufactured (made) by the ribosomes
•Function of proteins:
1. Help fight disease
2. Build new body tissue
3. Enzymes used for digestion and other chemical
reactions are proteins
(Enzymes speed up the rate of a reaction)
4. Component of all cell membranes
Protein
Synthesis
DNA contains the code of life…

The sequence of DNA

codes for proteins.

Proteins are essential

parts of all living things.

Hormones, antibodies, enzymes,

and body parts like muscles,
ligament, cartilage and more are
all made from proteins that our
DNA codes for.
 RNA
1. Contains the sugar
ribose instead of
deoxyribose.
2. Single-stranded
instead of double
stranded.
3. Contains uracil in
place of thymine.
RNA Contains:
1. Adenine
2. Cytosine
3. Guanine
4. Uracil (not
Thymine)
 Comparison of DNA and RNA
DNA

 3 Main differences between DNA &

RNA
1. Sugar:
a. DNA: Deoxyribose

b. RNA: Ribose

2. Nitrogen Bases: A, T, C, & G

a. DNA: A, T, C, G
RNA
b. RNA: A, U, C, G

 U = uracil
3. Number of strands that make up
the molecule:
a. DNA: two strands

b. RNA: one strand

Three Main Types of RNA
1. Messenger RNA (mRNA) - Carries copies of
instructions, for the assembly of amino acids
into proteins, from DNA to the ribosome (serve
as “messenger”)
* Made in the nucleus
 Three Main Types of RNA

2.Ribosomal RNA (rRNA) – Makes up the major

part of ribosomes, which is where proteins are
made.
* made in the nucleolus
1 ribosome = 4
molecules of
rRNA and 82
proteins

Ribosomal
RNA
Three Main Types of RNA
3. Transfer RNA (tRNA) – Transfers (carries)
amino acids to ribosomes as specified by
codons in the mRNA
 Proteins
 Proteins are made up of a chain of amino acids.
2 Steps to Make a Protein
1. Transcription
 DNA → RNA
2. Translation
 RNA → Protein
(Chain of amino
acids)
 Step 1: Transcription

1. Transcription: a complementary
single strand of mRNA is copied from
part of the DNA in the nucleus
a. RNA Polymerase, an enzyme,
unwinds DNA strand
b. RNA polymerase “reads” one
strand of DNA bases and makes
the RNA strand
 If DNA is TACCAGTTT
c. mRNA leaves and DNA
 mRNA will be AUGGUCAAA strands will coil back up
 Step 1b: mRNA editing
1. mRNA editing: cutting and
splicing mRNA before it leaves
the nucleus
a. Introns- (intruders) “junk
DNA” that doesn’t code for
proteins are cut out
b. Exons- “good DNA” that
code for proteins stay and
are expressed
2. Introns are removed and exons
are spliced together.
3. Edited mRNA is sent out of
nucleus to ribosome
(the exons can be spliced together in
different sequences to produce different
mRNA’s = different proteins)
 Fun FACT:
 Over 98% of the human genome is noncoding
DNA (introns)… Evolution perhaps?!?

We have 25,000 genes but produce more

than 100,000 diff proteins = splicing
Transcription: DNA → RNA
Step 2: Translation
1. How the code is read:
a. Every 3 bases on mRNA
represents a code for an amino
acid = codon.
b. Amino acids are abbreviated
most times by using the first 3
letters of the amino acid’s
name.
 Met = methonine

 Leu = leucine
 Reading the Codon Chart
Examples:
AUG = Methionine
CAU = Histidine
UAG = Stop
First Third
Position Position

Try
these: Answers:
GCU: Alanine
UAC: Tyrosine
CUG: Leucine This chart only works for mRNA codons.
UUA: Leucine
Step 2: Translation
 Translation - Translating of a mRNA
codons into a protein (amino acid chain)
 Takes place on ribosomes in cytoplasm
 Step 2: Translation
1. Edited mRNA attaches to a ribosome
2. As each codon of the mRNA molecule moves through the
ribosome, the tRNA brings the proper amino acid to the
ribosome.
 Notice the anticodon on tRNA – it is complementary to the
mRNA codon
 The amino acids are joined together by chemical bonds
called peptide bonds to build an amino acid chain called a
“polypeptide”
Regulation of Protein Synthesis
 Start codons: found at the beginning of a
protein
 Only one - AUG (methionine)
 Stop codons: found at the end of a protein
(end of a polypeptide chain)
 Three stop codons that do not code for any
amino acid therefore making the process stop
: UAA, UAG,UGA
 Slide # 12

Translation

Nucleus
mRNA


Lysine
Phenylalanine t RNA
Methionine

 Anticodon

Ribosome

mRNA 

Start codon

Go to Jan 2006

Section:
 Slide # 13
Translation

Growing polypeptide chain

The Polypeptide “Assembly Line”
Ribosome
tRNA

Lysine tRNA

mRNA

Completing the Polypeptide

mRNA Translation direction
Ribosome

Go to Jan 2006

Section:
Roles of RNA and DNA
 The cell uses the vital DNA “master plan” to
prepare RNA “blueprints.”
 The DNA molecule remains within the safety
of the nucleus, while RNA molecules go to
the protein-building sites in the cytoplasm—
the ribosomes.
Mutations
 Mutation – changes in the genetic material
(like mistakes in copying or transcribing)
Types of Mutations
 Chromosomal  Gene Mutations -
Mutations - Involve Mutations that produce
changes in the number or changes in a single
structure of chromosomes. gene.
Ex. Downs Syndrome
Regulation of Protein Synthesis
 Start codons: found at the beginning of a
protein
 Only one - AUG (methionine)
 Stop codons: found at the end of a protein
(end of a polypeptide chain)
 Three stop codons that do not code for any
amino acid therefore making the process stop
: UAA, UAG,UGA
 Types of Gene Mutations

Point mutations : affects single nucleotide

base is replaced with the wrong base (letter)
Example: Sickle-cell anemia
The specific base sequence for
these amino acids is:
GTG/CAC/CTG/ACT/CCT/GAG. Sickle
cell hemoglobin(Hemoglobin S) results
when, glutamic acid that is normally
present in the sixth position on the beta
globin chain is substituted with valine.
 Point Mutations: Silent
1. Silent mutation: a base is changed, but
the new codon codes for the same amino
acid. ( typically it is the third letter in the
codon) Not all mutations are harmful.
Original

leading to a silent mutation

mRNA
Protein
 Point Mutations - Substitution

1. Point mutation that still codes for an

amino acid, just the wrong amino acid
2. May or may not be harmful

Original

mRNA
Protein
 Point Mutations: Nonsense

1. Prematurely code for a stop codon

2. Result: a nonfunctional protein

Original

Nonsense

mRNA
Protein
 Frameshift Mutations: Deletion
1. Deletion: one or more
of the bases is deleted
from the code
2. Causes a shift in the
reading frame

Deletion
 Frameshift Mutations: Insertion

1. Insertion: one or more

base pairs are inserted
into the code
2. Causes a shift in the
reading frame

Insertion
 Types of Chromosomal Mutations

Numerical mutation: results from disjunction,

or the failure of a pair of homologous
chromosomes or a pair of sister chromatids to
separate during mitosis or meiosis
 Numerical Mutation: Aneuploidy

1. Aneuploidy: changes in chromosome

number, such as addition or deletion of one
or more chromosomes.
Trisomy – addition of one chromosome to the
normal 2N (2N + 1)

Monosomy – deletion of a chromosome from the

normal chromosome number 2N (2N – 1)
Down’s Syndrome Karyotype
Down syndrome (DS or DNS), also
known as trisomy 21, is a
genetic disorder caused by the
presence of all or part of a third copy of
chromosome 21. It is typically
associated with physical growth delays,
characteristic facial features and mild to
moderate intellectual disability.
In this cell, the number of
chromosomes is 45 with only one
copy of the X chromosome (45,X)
though other cells in her body may
have had the correct chromosome
number (46,XX).
Turner syndrome is a chromosomal
condition that affects development in
females. The most common feature
of Turner syndrome is short stature,
which becomes evident by about age 5.
An early loss of ovarian function
(ovarian hypofunction or premature
ovarian failure) is also very common.
 Numerical Mutation: Polyploidy

2. Polyploidy: nondisjunction involving

entire sets of chromosomes
 Numerical Mutation: Polyploidy

2. Polyploidy: nondisjunction involving

entire sets of chromosomes

* A polyploidy organism has an extra set of

chromosomes.
Structural Mutation: Translocation
 Structural Mutation: Translocation

1. Translocation: transfer of genetic

material between two nonhomologous
chromosomes
Example: Myeloid Leukemia
Movement of segment of human chromosome
22 to chromosome 9 which results to
proliferation of certain white blood cells in the
bone marrow
 Structural Mutation: Inversion

2. Inversion: involves two breaks in a

chromosome, followed by the broken ends
reattaching in the reverse order
* The change in the arrangement of genes may
result in phenotypic changes that usually are not
damaging
 Structural Mutation: Deletion

3. Deletion: caused by breaks in a

chromosome and a consequent loss of one or
more genes
*The effects increase in severity as the number of
lost sections or genes becomes bigger.

Example: Cri Du Chat Syndrome

The clinical symptoms of cri du chat syndrome usually include a high-
pitched cat-like cry, mental retardation, delayed development,
distinctive facial features, small head size (microcephaly), widely-
spaced eyes (hypertelorism), low birth weight and weak muscle tone
(hypotonia) in infancy.
 Structural Mutation: Duplication

4. Duplication: occurs when portions of

chromosomes are present in multiple copies

*The effects are believed to be less severe than

deletions and are difficult to detect in humans.
Significance of Mutations
 Many mutations have little or no effect on the
expression of genes.
 Mutations may be harmful and may be the
cause of many genetic disorders and cancer.
 Source of genetic variability in a species (may
be highly beneficial).