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Hello and welcome back.
Today I'm going to start by
discussing the genetic significance of
sexual reproduction.
Two biological parents, your mother and
your father, each contributed
half of their DNA to produce you, or any
offspring.
You've probably noticed, unless you're an
identical twin, that you
don't look exactly the same as your
siblings or your parents.
So what sexual reproduction does, is it
gives rise to variation.
With all that variation, we have
successes and failures.
Sexual reproduction's what allows us to
have two sets of homologous chromosomes.
One set again from your mother, and one
set from your father.
So you have 46 total chromosomes.
I know another way of saying that would be
23 pairs of homologous chromosomes.
Alleles are different versions of the same
gene and when we
look at your chromosomes you have multiple
alleles for different genes.
You have at least two alleles for every
gene, an example would be you have one
allele for blood type
from your mother and another allele for
blood type from your dad.
We have two versions because, again, you
have
one from your mother and one from your
father.
And these genes are located at very
specific locations on each chromosome,
and those specific locations on the
chromosome are referred to as loci.
These loci, or the location of the
genes on the chromosome, are important
because DNA
is associated with other sequences which
control and
regulate gene expression, such as
promoters or enhancers.
When we consider the different forms of
the genes, you may ask yourself.
Where did these alleles come from?
Those alleles, many of them actually arose
through mutation.
Remember, alleles are different versions
of the same gene.
Eukaryotes like us have multiple alleles
from many of our genes.

I gave you the example of blood type.

Well, look at
the variation in humans.
Take eye color for example.
There are many alleles for eye color.
Different alleles can be beneficial, they
can be harmful, and they can be neutral.
But when it comes to eye color there is no
real advantage
to having brown eyes, blue eyes, versus
hazel eyes, or green eyes.
That makes this allele mostly neutral.
There are different versions of alleles
but they don't
seem to give any major advantage for
natural selection.
Even if you have a preference
for eye color, would you choose a partner
solely based on his or her eye color?
So, some of the definitions I want to
recap before moving on.
Alleles, that's a variation or different
version of a gene.
Phenotype is the physical characteristic
that you
see when a gene is being expressed.
The genotype is your genetic makeup.
And to summarize again, we have 23 pairs
of chromosomes.
These chromosomes are numbered 1 through
22 and sex chromosomes named, X and Y.
You have a pair of each chromosome, 1
through
22, 1 from your mom and 1 from your dad.
And you have two sex chromosomes, you're
either XX, which makes you female.
Or XY which makes you male.
And each matching pair of chromosomes are
called homologous.
Now two neutrons I want to introduce.
Homozygous, not to be confused with
homologous, and heterozygous.
Homozygous means
you have two identical alleles for a
specific gene.
And heterozygous means you have
non-identical alleles
or two different versions of the allele.
So, we look at these different alleles, we
can see that they interact with each
other, and some of the alleles will act
in a dominant fashion and others are
recessive.
Dominant means that, that allele is
present.
When it is present the phenotype would be
observed, it
masks or blocks the recessive allele, and
a recessive allele
is only seen when a dominant allele is not

present.
And a good way to discuss this is with the
dominant disease called human polydactyly.
In the case of human polydactyly, a person
who has this gene can express
extra fingers, but what we see is
that there's incomplete penetrance and
variable expressivity.
Penetrance is if you see the phenotype
when a person has a particular genotype.
Up until now, we've assumed if you had a
genotype,
you'd express the phenotype, but in some
cases, there can be incomplete penetrance.
Some people have the genotype for
polydactyly
actually show normal hand with no extra
fingers.
Also, we see something called variable
expressivity, which means that you may
have penetrance of this gene, but it can
be expressed to different degrees.
Where some people may have a complete
extra finger
form on their hand others just have a
partial finger.
So there's
a higher degree of expressivity in some
people with the entire extra finger versus
others.
So the two terms again were penetrance and
expressivity.
Penetrance refers to whether or not you're
expressing the genotype.
Yes, you have the extra finger.
Or no you don't.
Variable expressivity is the degree to
which you're expressing that specific
genotype.
So you can see why simply stating one
gene will result in one specific phenotype
is rare.
Additionally, phenotypes can be influenced
by environment.
So let's think of one example.
Blood type, for instance.
When we look at your blood type, it's
solely determine by your genes.
So if you're A positive blood type, or B
negative, or O negative, that's determined
by your genes.
But your environment really doesn't impact
that blood type.
But what about how much blood?
How many red blood cells, or how much
hemoglobin you're synthesizing?
Well that's
determined by your environment.
Say you want to go on vacation to Machu
Picchu

up, it's in a high altitude, to see the

Incan ruins.
Well, your body needs to adapt.
You're going to secrete hormones to tell
your body
to make more hemoglobin and more red blood
cells.
After a couple of days you'll have more
red blood cells because you're adapting to
the environment.
So you can see in this example how
a change in the environment influenced
gene expression.
So just one gene
just control one phenotype.
Well, we're going to back to one of the
first examples we talked about,
the sickle cell trait, and what we see in
the case here is Pleiotropy.
This is the impact that one gene can have
over multiple characteristics.
Mutation in the DNA sequences that caused
a mutated hemoglobin to be produced
changes
the function and ultimately changed the
shape
of the erythrocyte of red blood cell.
But there's actually multiple
manifestations or
phenotypes to do this gene mutation, where
you can see physical weakness in people,
anemia.
Also you can see some protection from
being infected by the parasite that causes
Malaria.
So one mutation or one gene actually
causes multiple physical manifestations.
There are also examples where multiple
genes
influence a single phenotype; this is
called Polygenic.
A great example of this would be skin
color.
When you look at your skin color, that's
not
simple a dominate or receptive one gene,
one genotype interaction.
There's actually over a dozen genes
involved in
determining one visible trait, which is
your skin color.
And the last type of gene interaction
we're going to talk about is epistasis.
And that's where one gene product masks
the expression of another genome.
So gene products can interact with each
other, and you can get
phenotypes that aren't necessarily what
you
would expect with one specific genotype.

So, imagine a mouse with a mutation.

And that mutation forms an eyeless mouse.
So, this mouse is born with no eyes.
Well, that's going to mask the gene for
eye color.
So, you have one phenotype in one product
that has
been influenced by the expression or
absorbance of another physical trait.
In an eyeless mouse you are not going to
know what the genes were for eye color.
In our next lecture I will discuss how
hormones can effect gene expression.
See you soon.
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