Transcription, Translation: Mutation

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Transcription,

Translation
(From DNA to RNA to protein)

Mutation

Cherel C. Caser
Discussant
Three main steps:
- Helicase unzips/unwinds the DNA molecule
- DNA Polymerase brings in new nucleotides
- Ligase zips the new DNA back together

Why is DNA Replication important?


The important idea is that an exact duplication of the DNA message is
required, so that each new cell in the body has the same set of genetic
instructions as the cells that preceded it.
This also insures that every new generation of individuals has the
same genetic information as his/her parents.
Protein Synthesis
First, let’s learn about RNA
• RNA is also a nucleic acid,
called ribonucleic acid

• It only has one strand (DNA has


two)

• It contains the sugar ribose


instead of deoxyribose

• It has the nitrogenous base


URACIL (U) instead of thymine
(T)
Messenger, ribosomal,
transfer RNA
Transcription (the first step in protein synthesis)
Transcription

RNA polymerase matches bases in the sense strand with


RNA bases, building
a strand of mRNA that carries the information encoded in
the DNA.
Transcription

• Transcription ends when RNA polymerase reaches a triplet


of bases of DNA that is read as “stop” signal.
• RNA polymerase detaches from DNA and and releases RNA
molecule (pre-messenger RNA)
RNA Splicing

The pre-mesenger RNA that is formed contains


introns which are not required for protein synthesis.

The pre-mesenger RNA is chopped up to remove


the introns and create messenger RNA (mRNA) in a
process called RNA Splicing.
RNA SPLICING
• When the genetic message is copied
to make mRNA, the message
contains unwanted base sequences.

• The ‘junk’ sequences (called introns)


are removed from the message and
the remaining sequences (exons) are
linked together to produce a
sequence of codons that will
translate into a polypeptide.

• This process is called RNA


SPLICING, which occurs before the
message leaves the nucleus.
The completed mRNA molecule then moves from the
nucleus to the cytoplasm for translation.
Translation
Translation

• The larger ribosomal subunit


now binds to the smaller unit,
forming a ribosomal complex.
The tRNA binds to the first
active site on the ribosome.
Translation may now begin.
Translation

• The second codon in


mRNA (GUU) matches the
anticodon of a tRNA
carrying the amino acid
valine (CAA). The second
tRNA binds to the second
active site on the large
subunit.
Translation

• A catalytic site on the


larger subunit binds the
two amino acids together
using dehydration
synthesis, forming a
peptide bond between
them.
Translation

• The first tRNA now


detaches and goes of to
find another met in the
cytoplasm. The mRNA
chain shifts over one
codon, placing the second
codon (CAU) over the
second active site.
Translation

• A tRNA with an anticodon


(GUA) matching the
exposed codon (CAU)
moves onto the ribosome.
This tRNA carries histidine
(his).
Translation

• A new peptide bond forms


between val and his on the
catalytic site. The tRNA
that carried val will detach
and find another val in the
cytoplasm. The mRNA
strand will then shift over
one more codon.
Translation

• The process continues until


the ribosome finds a “stop”
codon. The subunits detach
from one another, the
mRNA is released, and the
polypeptide chain moves
down the ER for further
processing. The initial met
is removed and the chain is
folded into its final shape.
Summary
• The A site is the point of entry for the aminoacyl tRNA (except for the first
aminoacyl tRNA, which enters at the P site). The P site is where the peptidyl
tRNA is formed in the ribosome. And the E site which is the exit site of the
now uncharged tRNA after it gives its amino acid to the growing peptide chain.
Mutations

• Any mistakes in the DNA code can result in a


“broken” (non-functional) protein.
• A mutation affecting only a few somatic cells
(body cells) might not have any effect, unless
the mutation turns the cell cancerous.
• A mutation affecting a sex cell can be passed
on to the offspring.
Types of Mutations

• Point mutation: base substitution that may or


may not code for a different amino acid.
• Insertion mutation: one or more bases is
inserted into the DNA strand.
• Deletion: one or more bases is deleted from
the DNA strand.
Effects of mutations

• Original: THE FAT CAT SAT


• Point mutation: THA FAT CAT SAT
• Insertion: THE FTT ATC ATS AT
• Deletion: THE FTC ATS AT
Hemoglobin mutations

Properties of
DNA mRNA Amino Acid Effect on protein Disease
AA

Original
CTC GAG Glutamic Acid Hydrophilic Normal None
codon 6

Mutation 1 CTT GAA Glutamic Acid Hydrophilic Neutral None

Mutation 2 GTC CAG Glutamine Hydrophilic Neutral None

Loses water Sickle Cell


Mutation 3 CAC GUG Valine Hydrophobic
solubility Anemia

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