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T so the
four Nucleotides of RNA are A,G,C and U.
Three letter codon corresponds to specific
amino acids, and those amino
acids, to refresh your memory, are the
building blocks to proteins.
In this way, the three letter codons
determine which Amino acids are
going to be arranged in the proper order
to synthesize the proper protein.
So, we can think of codons that make up
a gene as a sentence comprised of three
letter words.
One example of a sentence comprised of
three
letter words is, the red hat was big.
You'll notice that this analogy
corresponds to a gene in
that we have a sentence composed of three
letter words.
Again.
The red hat was big.
Two types of mutations we're going to talk
about are insertion and mutations and
deletion mutation.
And you can probably hypothesize from
their names what happens in each mutation.
For insertion mutation, one
or more Nucleotides will be inserted.
A deletion mutation will have a deletion
of one or more Nucleotides.
These mutations, insertions and deletion
mutations, are called INDELs.
And they can lead to something called
friendship mutations.
Consider our sentence.
The red hat was big.
In the case of an insertion mutation,
imagine we
insert a letter, say A, into the word red.
So now when you try to read the three
letter words, it reads, the rea,
well, you'll notice that's not a word
and everything else in the sentence is
gibberish.
What effect do you think that would have
if we changed the co,
codons used as the template to make a
protein in the same manner.
Now imagine the other type of mutation,
the deletion mutation.
You have the same sets.
The red hat was big but in this case
the D is removed.
It's deleted.
We have the
[INAUDIBLE],
Wait, that doesn't make sense.
Those three letter words don't mean much.
So, we have a frame shift mutation
occurring
again, since RNA is read in three letter
frames.
Once the word is altered, one word is
altered, the rest of the sentence is also
shifted.
Another type of mutation that we'll talk
about are called substitution mutations.
These don't change the reading frame of
the sentence, we have the same sentence.
The red hat was big but
for a substitution mutation, we'll
substitute, in this
example, an e in red with an a.
So now, we get a different sentence with a
different meaning.
Rad hat was big.
I actually introduced this type of
mutation
earlier to discuss the sickle cell trait.
In that case, one single codon is
changed by substituting one Nucleotide
with another Nucleotide.
And you can see the dramatic effect it had
on the shape of hemoglobin.
It altered not only the shape, but
remember, form dictates function.
A change in the shape of hemoglobin
changed how it functioned.
If we want to look at gene mutations, this
is difficult to study in humans,
but because we never have control of a
human of a human's environment or life
style.
And when we try to study DNA mutations in
humans,
we also run across that pesky little issue
of, ethics.
So fortunately, we have model
organisms that we can use to study
mutations.
We'll see that nature's thrifty in that a
lot of genes
do the same thing in flies, mice and even
tiny bacteria.
One example of this similarity in
different organisms can be
seen in people with the mutation called
the tin man gene.
It's named after the tin man in The Wizard
of
Oz, and people with this mutation often
have congenital heart defects.
But this mutation was first observed in
fruit flies
born without a functional heart, hence the
name, tin man gene.
Based on the similarities in gene function
and expression in flies and humans
you can see why some geneticists refer to
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