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Hello, and welcome back.


So now that we're familiar with essential
dogma of biology, we
understand the signifigance and key
regions of our DNA and RNA.
And we know the various ways of
controlling gene expression without
altering the sequence
of DNA, now we're going to enter the
exciting DNA altering world of Mutations.
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Mutations are defined simply as a change.
For DNA that means a change
in the Nucleotide sequence.Recall the four
letters of DNA, G, A, T or C, Nucleotides.
Simply changing or having mutation of one
or more of
these DNA Nucleotides can lead to a change
in the mRNA.
In ultimately a change in the protein
that's made.Some possible outcomes from
a DNA mutations are non functional
protein.
A protein that has partial function.
A protein with a completely new or novel
function, no protein at all or
interesting enough no noticeable change in
protein
function even though there was a DNA
mutation.
Mutations in genre may also affect timing
or level of gene expression.
One of the fundamental properties of
mutations is
that mutations just occur randomly.
When and if mutations occur is completely
unrelated to any advantage that mutation
may provide.
We don't want to rise because an organism
needs
them, and conversely, they don't arise to
harm an organism.
They're spontaneous.
Natural selection plays a role in these
mutations whether they will exist
in a population are not cause they can be
selected for or against.
Now I want you to think about DNA and
RNA as sentences that code for genes, all
the genes in the
sentence are composed of three letter
words that we going to call codons.
In the same way three letters can make
a unique word, three Nucleotides make up
unique codons.
The Nucleotides for making up DNA codons
again are A,G,C and T for DNA.For
RNA, RNA uses the Nucleotides U instead of

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

flies as little humans with wings.


Flies drink alcohol when they're sexually
rejected, they can become aggressive
so we can use them to study behavior,
they're great models.
Because they have sleepless nights and
they can be used to study insomnia.
They're a wonderful model
organism because we can study these traits
much much more.
I want to drive home the connection
between form and function.
So that you truly understand significantly
how a little change
in our proteins can ultimately affect our
overall bodies function.
So we talked about form and function.
Well let me give you a practical example
of form and function.
Take this chair for example.
Very specific form of shape that relates
to
its very specific function.
What if I change the shape of form ever so
slightly?
So, just change where the seat is.
Has it affected the function?
Well' let's see.
I can sit on it, it's asking for a mishap.
But I can still sit on it,
so a slightly different shape, slightly
different function.
It's not going to work in the same way.
But let's look at it more dramatically.
What if there were a dramatic change in
the shape of this chair?
So now I change
the shape.
All the elements are still here but is the
function the same?
No, the function is not the same.
So what we're going to see with when we
talk about proteins and mutations
is that different changes and shape can
have different effects on the functions.
Some can be small or non consequential and
other ones can be pretty extreme.
Now, imagine if I were to start this with
a hammer, it's going
much more extreme effect on the shape and
a much more extreme effect on it's form.
Although mutations are often thought of as
harmful, they provide
a rich source of genetic diversity in the
world around us.
Mutations can play a key role in why you
don't look
exactly like your mother, or your father,
sister or your brother.
Well, why you're uniquely you.

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