LESSON 10: HOW DOES HEREDITY WORK?

'You
You do not really understand something unless you can explain it to your
grandmother.' - Albert Einstein (1879
(1879-1955), physicist

Major Goals for this Lesson:

- Recognize, and describe, the genotypes and phenotypes of individuals who are homozygous dominant,
homozygous recessive,, heterozygous, and codominant for a specific gene.
- Follow the process of heredity from parental genotypes and phenotypes to offspring phenotypes and
genotypes.
- Explain how to determine whether a phenotype is controlled by more than one gene.
- Discuss how the chemical environment inside the body controls gender in humans.

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Overview and Review

In the previous Lesson, you discovered where genetic differences among individuals come from. You
learned about mutations and alleles, and how alleles can be inherited by offspring and become part of a
population.

This Lesson will look more closely at how offspring of plants and animals inherit alleles from their parents.
The examples will come from humans, but all animals and plants share similar methods of heredity. We
will tackle questions such as:

- If you have a genetic disease, what is the chance that your children will have it?
- If you receive half of your chromosomes from your mom, and half from your dad, why do some of your
traits seem to come from only one parent? For example, If your mom has brown eyes and your dad
has blue, you will probably have brown OR blue eyes, but not both. How does this work?

We'll also take a look at gender determination in humans. You may think that gender is determined by
your genes, but this is not entirely the case.

First, we need a review of the previous Lesson. You MUST have a good understanding of this
information. Otherwise, you'll have difficulty with this Lesson.

Many genes have different versions called alleles. Different alleles can result in different kinds of proteins
being produced. For example, one allele of the HBB Gene produces sticky Beta Chain proteins, while
another allele produces normal Beta Chain proteins.

All genetic differences among individuals come from different alleles. These alleles were inherited from
their ancestors. In plants and animals, all inheritable alleles are the result of random mutations that occur
during meiosis. This is the part of sexual reproduction that produces gametes. Mutations create new
alleles in eggs and sperm, and these are passed to the next generation, and possibly beyond.

You also need a good understanding of the material in the Lesson 'What Is Sexual Reproduction'. In that
Lesson, you learned that all sexually-reproducing species go through a phase of life where their cells are
DIPLOID. This means that the cells contain TWO copies of the entire genome.

In protists and fungi, the diploid stage is very short-lived. In plants and animals, the diploid stage takes up
most of an individual organism's life.

Figure 10.1 is our standard diagram of sexual reproduction, showing the 'detour' that plant and animal
zygotes take. The diploid zygote develops into a multicelled organism, whose cells are all diploid. Only
later do some cells in plants and animals finish sexual reproduction by undergoing meiosis to produce
haploid cells once again.

And, just to remind you, this diagram shows cells that contain only two chromosomes in their haploid
state. Different species contain different numbers of chromosomes. For example, you should remember
that the haploid number of chromosomes for human cells is 23.

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Figure 10.1. Plants and animals take a 'detour' during sexual reproduction, delay meiosis, and
spend most of their lives as a multicelled organism with diploid cells.

Alleles and Being Diploid

To understand heredity, we need to combine the notion of ALLELES with the fact that plants and animals
spend most of their lives in a DIPLOID state.

Let's explore this with a new human gene (Figure 10.2). It's called HERC2, and
it's located on chromosome 15 just below the centromere. It's right next to the
OCA2 Gene which you learned about in the previous Lesson, so the location of
these two genes on the map appears identical.

Figure 10.2 A map of human chromosome 15, showing

the general location of the HERC2 Gene.

This gene is a set of instructions for the HERC2 protein, which is short for 'HECT domain and RCC1-like
domain-containing protein 2'. This is a name only a geneticist could love.

This protein controls pigmentation. You've already seen two proteins, MC1R and the P Protein, that play
a role in pigmentation. Both of THOSE proteins influenced pigmentation in ALL body parts. The HERC2
protein is different. It only affects pigmentation in the iris of the eyes.

The gene has two alleles. Allele 1 contains instructions for normal HERC2 proteins. These proteins
somehow ensure that lots of melanin gets placed in the iris. Exactly HOW the protein does this, and WHY
it only works in eyes, are still being researched.

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When there's lots of melanin in its iris, the eye is some shade of brown or green (Figure 10.3). Exactly
WHAT shade of brown or green depends on OTHER genes, which aren't well-understood.

Figure 10.3. Two possible results of

Allele 1 of the HERC2 Gene.

Allele 2 contains instructions for proteins with the wrong shape. They don't work properly. As a result, no
pigment gets placed in the iris. Because of some odd optical properties of the eye, an iris without pigment
looks blue (Figure 10.4).

Figure 10.4. Blue eyes are the result of

Allele 2 of the HERC2 Gene.

Technically, this explanation isn't quite correct, but, a full explanation of how this gene works, and what
the alleles do, is beyond the scope of this course. Here's a taste for any curious folks. The HERC2 protein
actually influences how the OCA2 Gene works. Allele 2 binds to the promoter of the OCA2 gene, and
interferes with transcription of OCA2 proteins.

Let's use this new gene to explore the consequences of being diploid. All humans are composed of
diploid cells. Thus, all human cells contain TWO copies of chromosome 15. First we have a new
vocabulary term. Two copies of the same chromosome in a diploid cell are called HOMOLOGOUS.
'Homo' is Greek for 'same'.

For example, the two copies of chromosome 15 in human

cells are homologous. They can also be called a
homologous PAIR of chromosomes. A map of these two
chromosomes is shown in Figure 10.5.

Figure 10.5. Every human cell contains two copies of

chromosome 15, each of which contains a copy
of the HERC2 Gene. This pair of chromosomes
is called homologous.

Similarly, the two copies of chromosome 1 in human cells are homologous, the two copies of
chromosome 2 are homologous, and so on.

Chromosome 15 contains about 1,500 genes. One of these genes is the HERC2 Gene. Because human
cells contain two copies of chromosome 15, they must also contain two copies of the HERC2 Gene. The
map above shows the location of these two copies of the HERC2 Gene.

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So, because diploid cells contain two copies of every chromosome, they also contain two copies of every
gene. There are some exceptions, and you'll see one later in this Lesson. It's called the SRY Gene. But
for now, let's look at the HERC2 Gene.

The HERC2 Gene has two alleles:

- Allele 1 contains instructions for normal proteins, and these proteins result in brown or green eyes. To
save space in diagrams, I'm only going to refer to BROWN eyes, and ignore green. For the rest of
this Lesson, whenever you read 'brown eyes', remember that this actually means 'brown or green
eyes'. Also remember that the SHADE or brown or green depends upon OTHER genes which we're
also ignoring.

- Allele 2 contains instructions for defective proteins, and this results in blue eyes.

All of your cells contain two copies of the HERC2 Gene,

located on the two copies of chromosome 15. Your two
copies of the HERC2 Gene COULD be same allele. They
might both be Allele 1 (Figure 10.6). Both of these alleles
contain the instructions for normal proteins.

Figure 10.6. Your two copies of the HERC2

Gene might both be Allele 1.

On the other hand, your two copies of the HERC2 gene might
both be Allele 2 (Figure 10.7). Both of these alleles contain
the instructions for defective proteins.

Figure 10.7. Your two copies of the HERC2

Gene might both be Allele 2.

There's one more possibility. Your two copies of the HERC2

Gene could be different. You might have one copy of Allele 1,
and one copy of Allele 2 (Figure 10.8). In this case, one allele
contains instructions for normal proteins, while the other
contains instructions for defective proteins.

Figure 10.8. One of your copies of the HERC2 Gene

might be Allele 1, while the other is Allele 2.

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Hopefully, you realize that all of your cells are the same. Thus, if ONE cell in your body contains two
copies of Allele 1, then ALL of your cells will contain two copies of Allele 1. Why? because all of your cells
are clones. Why are they all clones? They developed via mitosis from a zygote. If this doesn't make
sense, review the Lesson 'What Is Sexual Reproduction'.

We want to know how these two copies of HERC2 will interact, and what this will mean for the color of
your eyes. In other words, if you have two copies of Allele 1, what color will your eyes be? How about if
you have two copies of Allele 2? Or, if you have a copy of both alleles, what color will your eyes be then?

We know what trait each allele generates on its OWN. Allele 1 results in brown eyes. Allele 2 results in
blue eyes But, what happens when we have TWO alleles working together in a cell?

Some new vocabulary terms are going to make these questions easier to discuss and easier to answer.
First, your GENOTYPE is the specific pair of alleles that you have for a given gene.

So, your genotype for the HERC2 Gene could be 'one copy of Allele 1, and another copy of Allele 1'. Or,
your genotype could be 'one copy of Allele 2, and another copy of Allele 2'. Finally, your genotype could
be 'one copy of Allele 1, and one copy of Allele 2'.

There are three possible genotypes you could have for the HERC2 Gene (Figure 10.9).

Figure 10.9. These are the three possible genotypes your cells can have for the HERC2 Gene.
The first two are homozygous genotypes, while the one on the right is heterozygous. What
phenotypes will these genotypes create?

When the two alleles in a genotype are the same, we call the genotype HOMOZYGOUS. 'Homo' means
'the same', and 'zygos' comes from the Greek word 'zygotos', meaning 'to join together'. The two alleles
are 'joined together' to create your diploid genotype. Thus, the genotype 'two copies of Allele 1' would be
called homozygous. The genotype 'two copies of Allele 2' would also be homozygous.

When the two alleles in a genotype are different, we call the genotype HETEROZYGOUS. 'Hetero' means
'different'. Thus, the genotype 'one copy of Allele 1, and one copy of Allele 2' would be called
heterozygous.

Your PHENOTYPE is the physical characteristics that result from your genotype. For the HERC2 Gene,
the phenotype will be some sort of eye color.

Lets take a look at the genotypes and see if we can LOGICALLY determine what the phenotypes would
be.

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The first genotype in Figure 10.9 is homozygous for Allele 1. If you have this genotype in your cells, then
all of the HERC2 proteins that you make are normal. The proteins all do their jobs, and pigment gets put
in your irises. What color eyes would you have? It should be pretty obvious that your eye color will be
brown (remember, we're ignoring green. We're also ignoring different SHADES of brown or green,
because these are controlled by OTHER genes).

Suppose your genotype is homozygous for Allele 2, as in the middle of Figure 10.9. If you have this
genotype in your cells, then all of the HERC2 proteins that you make are defective. None of your HERC2
proteins do their jobs correctly. Pigment isn't placed in your irises. It should be pretty obvious that your
eyes will be blue.

If you have the genotype on the far right of Figure 10.9, you are heterozygous. You have one copy of
Allele 1 and one copy of Allele 2. In this case, your phenotype isnt so obvious. To figure it out, we need
to look at whats happening inside your cells.

Cells use each allele individually, and use each allele approximately half of the time when making
proteins. If you're heterozygous for the HERC2 Gene, your cells will use Allele 1 half the time when
making HERC2 proteins, and they will use Allele 2 half of the time. Half of the time, your cells will make
normal HERC2 proteins, and half the time, they will make defective ones. In other words, if you're
heterozygous, your cells will only contain about half as much functioning HERC2 protein as normal.

Here's another way to think about this. If you're homozygous for Allele 1, 100% of the HERC2 proteins in
your cells are normal. If you're homozygous for Allele 2, 0% of your HERC2 proteins are normal. If you're
heterozygous, 50% of your HERC2 proteins are normal.

If you're heterozygous, what color eyes will you have? Will they be bluish-brown? That's a logical guess,
but it's wrong. As it turns out, the normal form of the HERC2 protein is a very powerful machine. A few
copies of this protein are all that's necessary to ensure that lots of pigment are put into your irises.

If you're heterozygous, half of your HERC2 proteins are normal. This is MORE than enough functioning
protein molecules to ensure that lots of pigment get into your irises. In other words, if you're
heterozygous, you have brown eyes. And, your eyes are JUST as brown as they would be if you were
homozygous for Allele 1. Even though you have Allele 2 in your genotype, there is no physical way to tell
that it's there at the 'whole body' level. If you could peer into your cells, however, you WOULD be able to
see that half of your HERC2 proteins are defective.

Now for more useful vocabulary. Allele 1 for the HERC2 Gene is called DOMINANT. A dominant allele is
an allele whose phenotype is the ONLY one seen in heterozygous individuals, at least when considering
the 'whole-body' level of observation, NOT the cellular level.

In the case of the HERC2 gene, heterozygous individuals have the brown phenotype of Allele 1, and
ONLY this phenotype. There is no visual evidence that Allele 2 is present in the genotype. Eyes are NOT
bluish-brown. So, by definition, Allele 1 is called dominant.

In contrast, Allele 2 is called RECESSIVE. This means that its phenotype is NOT present in heterozygous
individuals. Again, were looking at the 'whole-body' level. In the case of the HERC2 gene, heterozygous
individuals DO have Allele 2 in their genotype, but it is NOT present in their phenotype.

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Figure 10.9 used detailed diagrams to show all this genetic information. The Figure showed the
homologous pair of chromosomes, labeled with the location of the gene. It indicated which allele was
present on each chromosome, and the phenotype that each allele created. The Figure should help you
understand how terms such as chromosome, gene, allele, homologous, and diploid relate to one another.

Unfortunately, the diagrams used in Figure 10.9 are cumbersome. They take up a lot of room. Therefore,
scientists generally dont use them. Scientists use ABBREVIATIONS instead. The standard abbreviation
for a dominant allele is a capital letter, and the standard abbreviation for a recessive allele is a small
letter. There are exceptions, but well stick to the rules.

For example, let's take a look at one of the previous diagrams for the HERC Gene again (Figure 10.10).
The ENTIRE diagram can be abbreviated with this: 'AA'. Thats it! Two letters take the place of
EVERYTHING in the diagram. We could have used BB, or CC, or any two letters, as long both were the
same capital letter. We're using the SAME letter because we're talking about two copies of the SAME
gene. We use two CAPITAL letters because both copies of the gene are the DOMINANT allele.

There's something else we can say about this genotype. Previously, I

described it as a homozygous genotype. Now we know that it's
homozygous for the DOMINANT allele. So we can describe it more
accurately by calling it a homozygous dominant genotype.

Figure 10.10. This is a homozygous dominant

genotype. The entire diagram could be
abbreviated as: AA.

If Figure 10.10 is abbreviated as AA, then Figure 10.11 could be abbreviated with: aa. The lower case
letter A is used to indicate that the genotype contains two copies of the recessive allele. We use the
SAME letter (A or a), because we're talking about the SAME gene.
Before, we called this a homozygous genotype. Now we can be
more specific. It is a homozygous recessive genotype.

Figure 10.11. This is a homozygous recessive

genotype. The entire diagram could be
abbreviated as: aa.

It should come as no surprise that Figure 10.12 can be abbreviated

as: Aa. Before, we called this genotype heterozygous. That's still
what we'll call it. It would make no sense to call it 'heterozygous
dominant', or 'heterozygous recessive'. It's just heterozygous.

Figure 10.12. This is a heterozygous genotype.

The entire diagram could be
abbreviated as: Aa.

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Make sure you understand these abbreviations, what they mean, and how to use them. You also need to
understand, and be able to use, the terms genotype, phenotype, homozygous, heterozygous, dominant,
and recessive. Otherwise, you may have trouble with the rest of this Lesson, and with Lesson Quiz 2 -
How Does Heredity Work.

Let's consider the phenotypes for these three genotypes again. I'll be using just the abbreviations. Look
back to Figure 10.10, Figure 10.11, and Figure 10.12 if you want to see the diagrams. The phenotype for
AA is brown eyes. The phenotype for aa is blue eyes. The phenotype for Aa is brown eyes.

In other words. the phenotype of a homozygous dominant person and a heterozygous person are
IDENTICAL. If someone has brown eyes, you CANNOT tell which of these two genotypes they have.
They might be homozygous dominant. They might be heterozygous.

If someone has blue eyes, you know which genotype they must have, because there's only one
possibility. The genotype of blue-eyed people MUST be homozygous recessive. So, all of you folks out
there with blue eyes have now learned a little bit about your genetic makeup. You are homozygous
recessive for the HERC2 Gene. (Technically, this may not be true. There are other genes which influence
eye color. However, HERC2 is the most well-known, and seems to have the greatest effect. Chances are,
MOST people with blue eyes are homozygous recessive for this gene).

All of you folks with eye colors OTHER than blue aren't as lucky. You could be homozygous dominant or
heterozygous for the HERC2 Gene. It's not possible to tell your genotype by looking at eye color.

The OCA2 Gene

Weve covered a lot of information in a very short time. Lets become familiar with
everything by looking at a few more examples.

In the previous Lesson, we looked at the OCA2 gene, located on chromosome 15

(Figure 10.13).

Figure 10.13. A map of human chromosome 15, showing

the general location of the OCA2 Gene.

This gene has many alleles. One allele, which well call Allele 1, is a set of instructions for normal P
proteins. Scientists have discovered this allele is dominant. Lets abbreviate it with the capital letter B.

I'll use the letter B, since we already used the letter A for the HERC2 Gene. In practice, we could use
letter A for any gene that we're discussing, but I'll use a different letter anyway, to make it plain that we're
looking at a different gene, and to remind you that ANY letters can be used, NOT just A and a.

The OCA2 Gene has many other alleles, and most of them produce nonfunctional P proteins. These
proteins are the wrong shape to do their jobs within the body. Scientists have discovered that most of
these alleles are recessive. Let's look at one of these recessive alleles. We'll call it Allele 2, and
abbreviate it with a small letter b.

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Figure 10.14 shows one possible genotype that a person could
have. This is a homozygous dominant genotype. The entire diagram
can be abbreviated BB.

Figure 10.14. This is a homozygous dominant

genotype. The entire diagram could be
abbreviated as: BB.

Allele 1 is responsible for normal body pigmentation. Individuals with the genotype BB will have pigment
in their bodies (Figure 10.15). We can call their phenotype 'pigmented'. Whether someone has a LOT of
pigment, or just a little, is controlled by OTHER genes. But, if your genotype is BB, you will have at least
SOME pigment in skin, hair, and eyes.

Figure 10.15. People with genotype BB for the OCA2 Gene

will have the 'pigmented' phenotype. How MUCH
pigment they have in various body parts
depends on OTHER genes.

If someone has two copies of Allele 2, their genotype is

'homozygous recessive', and it is abbreviated bb (Figure 10.16).

Figure 10.16. This is a homozygous recessive

genotype. The entire diagram could be
abbreviated as: bb.

Allele 2 is one of many alleles responsible for albinism. Individuals with

the genotype bb would have the 'albino' phenotype (Figure 10.17).

Figure 10.17. A person with the albino phenotype.

This can be caused by the genotype bb.

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If someone has one copy of Allele 1 and one copy of Allele 2, their
genotype is 'heterozygous', and it is abbreviated Bb (Figure 10.18).

Figure 10.18. This is a heterozygous genotype.

The entire diagram could be
abbreviated as: Bb.

Because Allele 1 is dominant, individuals with the genotype Bb would have pigment in their bodies. We
can call their phenotype 'pigmented' Their phenotype is exactly the same as the phenotype of
homozygous dominant individuals.

You might be wondering, what MAKES some alleles dominant? Often, alleles that result in functioning
proteins are dominant, while alleles that produce defective proteins are recessive. Proteins are usually
very efficient machines. So, even though only 50% of a heterozygote's protein molecules are functioning,
that's still plenty to get the job done.

You might also be wondering how scientists determine whether proteins are functional, nonfunctional,
dominant, or recessive. It's not easy, and it's beyond the scope of this course.

The ABO Gene

Besides dominant and recessive, there is a THIRD option for alleles. It's called CODOMINANCE. 'Co'
means 'together'. Think of the word 'cooperate', which means 'to work together'. With this knowledge, you
can probably guess how codominant alleles are going to interact.

If you look up information online or elsewhere, you may find another option called incomplete dominance.
This is essentially the same thing as codominance. You dont need to know the difference between the
two. I will call both options codominance, because its a more accurate term.

To examine codominance, lets revisit the ABO Gene, which you saw in the previous
Lesson. It's located on chromosome 9 (Figure 10.19).

Figure 10.19. A map of human chromosome 9, showing

the general location of the ABO Gene.

The ABO Gene has three alleles, called Allele A, Allele B, and Allele O. Alleles A and B are both
dominant, while Allele O is recessive. Because this gene has been extensively studied by researchers,
there is a standard letter used to represent its alleles - the letter I. Using our rules for abbreviations, the
dominant alleles (Allele A and B) will be abbreviated with a capital letter I, while the recessive allele
(Allele O) will be abbreviated with a small letter i.

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But wait! We need a way to tell Allele A and Allele B apart. We can't just use a capital letter I for BOTH of
them. Here's a NEW rule for abbreviations. When there is more than one dominant allele for a given
gene, a superscript is added to the capital letter abbreviation to indicate each different allele. Thus, Allele
A B
A would be abbreviated: I , and Allele B would be abbreviated: I .

What genotypes and phenotypes might you have for the ABO
Gene? One possibility is two copies of Allele A. This would be a
homozygous dominant genotype. Figure 10.20 shows this
A A
genotype. The entire Figure could be abbreviated with: I I .

Figure 10.20. This is a homozygous dominant

genotype. The entire diagram could be
A A
abbreviated as: I I .

If you remember what Allele A does, it shouldnt be too difficult to figure out that the phenotype for
A A
someone with the I I genotype is Type A blood. This is just one possible genotype and phenotype. Lets
look at all of the others. Were not going to use the cumbersome diagrams anymore. Well just use the
two-letter abbreviations instead. However, dont forget these simple abbreviations actually contain a lot of
information.

Here is a list of all possible genotypes and phenotypes for the ABO Gene:

Genotype Abbreviation Genotype Name Phenotype

IA IA Homozygous Dominant Blood Type A
IB IB Homozygous Dominant Blood Type B
ii Homozygous Recessive Blood Type O
IA i Heterozygous Blood Type A
IB i Heterozygous Blood Type B
IA IB Codominant Blood Type AB

Carefully examine the genotypes and phenotypes above, and make sure you understand them.
Technically, we could get a little more detailed with some of the genotype names. For example, the
A A
genotype I I could specifically be called 'homozygous dominant for Allele A.'

A B
The very last genotype in the list is I I . This means that one chromosome in a homologous pair has
Allele A, while the other chromosome has Allele B. Both of these alleles are dominant. Neither one is
recessive to the other. They are CODOMINANT. This means that BOTH of their phenotypes are
expressed in a heterozygous individual.

A B
In other words, if someone has genotype I I , their red blood cells have both A and B antigens on them.
A B
They have Type AB blood. This should make sense. If someone has the I I genotype, half of their ABO
enzymes put the A antigen on red blood cells, while the other half put the B antigen on red blood cells.
Their red blood cells end up with both antigens on them.

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Why is Allele O recessive? It produces nonfunctioning enzymes that cant put anything on red blood cells.
A
Suppose you have the genotype I i. This means that half of your enzymes have the correct shape to put
A antigens on blood cells, while half of your enzymes dont do anything. Since half of your enzymes are
functional, you end up with red blood cells that have the A antigen on them. This is Type A blood.

Note that heterozygous genotypes AND codominant genotypes contain two different alleles. Thus,
couldn't a codominant genotype be described as heterozygous? Technically yes. In practice, the term
'heterozygous' is only used when one of the alleles is dominant, and one is recessive. When both alleles
are dominant, the genotype is called codominant, NOT heterozygous.

The Hemoglobin Beta Chain Gene

Lets look at another example of codominance. Youve seen the Hemoglobin Beta Chain Gene in the
Lessons 'Why Arent We All Clones', 'What is Sexual Reproduction', and 'How Does DNA Work'. Review
that information if you want.

The HBB Gene is located on human chromosome 11. It has many alleles, but only two that weve
discussed. One of these alleles produces normal Beta chains and this results in normal hemoglobin. The
other allele produces sticky Beta chains and this results in sickle-cell anemia.

These alleles are codominant. Let's abbreviate the gene with a capital letter H. For the allele that
produces normal Beta chains, we'll use the superscript N, for 'normal'. For the allele that produces sticky
Beta chains, we'll use the superscript S, for 'sticky'. Here are the possible genotypes and phenotypes:

Genotype Abbreviation Genotype Name Phenotype

HN HN Homozygous Dominant Normal Hemoglobin
HS HS Homozygous Dominant Sickle-Cell Anemia
HN HS Codominant Mild Sickle-Cell Anemia

N S
If someone has the codominant genotype H H , half of their Beta chains will be made following the
instructions in the H allele, and will be normal. Half of their Beta chains will be made following the
instructions in the S allele, and will be sticky. This translates into a mild form of sickle-cell anemia. In fact,
some people with this genotype may have no disease symptoms at all.

S S
Someone with the H H genotype, by contrast, will produce NO normal Beta chains, and will have NO
normal hemoglobin. This produces a much stronger form of the disease.

Heredity

Weve looked at dominant, recessive, and codominant alleles, and the standard ways of abbreviating
them with capital and small letters. Weve also seen how these types of alleles translate into the
genotypes and phenotypes of individuals.

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Now things get more interesting. We want to see how genotypes and phenotypes are inherited by
offspring. In other words, we can finally talk about HEREDITY. For example, if you and your spouse both
have brown eyes, can you have children with blue eyes? Can you expect to have lots of blue-eyed
children, or is it unlikely? If you and your spouse have blue eyes, can your children have brown eyes?

These are fun questions to ask, but they also have a very serious side to them. Instead of asking whether
your children will have brown or blue eyes, you could ask whether your children will inherit a serious
genetic disease such as sickle-cell anemia or porphyria.

Humans make new offspring through sexual reproduction. Review the Lesson 'What is Sexual
Reproduction' if you want to. Figure 10.21 is our standard diagram of sexual reproduction for both animals
and plants. Make sure you understand it.

Figure 10.21. Our standard diagram of sexual reproduction in plants and animals.

Let's start with an adult human, represented in the Figure by the box that says 'Multicelled Plant or
Animal.'

In order for this person to produce an offspring, two things have to happen. First, the person needs to
MAKE GAMETES. Second, one of those gametes must combine with a gamete from another individual.
In other words, there must be FERTILIZATION. We'll consider each of these in turn.

Making Gametes

The first thing a person need to do is make gametes. Remember, diploid adult humans make haploid
gametes. Further, in order to MAKE haploid gametes, the homologous chromosomes are SEPARATED
from one another during meiosis.

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Lets look at an example using the HERC2 Gene, and Alleles 1 and 2. We'll abbreviate Allele 1 with a
capital 'A', since we know its dominant. And, well abbreviate Allele 2 with a small 'a', since we know its
recessive.

Suppose Mom is heterozygous. That means she has the genetic

makeup shown in Figure 10.22. We can abbreviate that entire
diagram with the symbols 'Aa'. Mom's phenotype is 'brown eyes'.

Figure 10.22. Mom's genetic makeup. Her genotype is

heterozygous, and her phenotype is 'brown eyes'.
The entire diagram can be abbreviated as: Aa.

When Mom makes eggs, her pairs of homologous chromosomes will get SEPARATED. Thats how
gametes are made. Each egg or sperm ends up with just ONE chromosome from every homologous pair.

In other words, HALF of her eggs will receive the chromosome that carries Allele 1,
or the 'A' allele (Figure 10.23). Using our abbreviations, we could abbreviate Figure
10.23 as just the letter A. Thus, we could say that half of her eggs are genetically 'A'.

Figure 10.23. Half of Mom's eggs will carry this chromosome.

This entire diagram could be abbreviated as: A.

The OTHER half of Mom's eggs will receive the chromosome that carries Allele 2, or
the 'a' allele (Figure 10.24). We could say that half of her eggs are genetically 'a'.

Figure 10.24. Half of Mom's eggs will carry this chromosome.

This entire diagram could be abbreviated as: a.

Suppose Dad is also heterozygous. In other words, his genotype and phenotype are the same as Moms.

When Dad makes sperm, half of them will receive the chromosome that carries the 'A' allele. The OTHER
half of his sperm will receive the chromosome that carries the 'a' allele. We could say that half of his
sperm are 'A', while half are 'a'.

NONE of the eggs or sperm carry BOTH the A allele AND the a allele. Why not? Because gametes are
haploid. They do NOT contain homologous pairs of chromosomes. They contain just ONE chromosome
from every homologous pair. It's very important that you fully understand these concepts. Otherwise, you
will have difficulty when you work on Lesson Quiz 2.

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Fertilization

After making gametes we need to move to the fertilization portion of sexual reproduction. We need to
combine one egg with one sperm. We have two possible TYPES of eggs (A and a), and two possible
TYPES of sperm (A and a).

Which type of egg and sperm will combine? Its a random process. EITHER of the two kinds of eggs may
fuse with EITHER of the two kinds of sperm.

This means there are FOUR possible outcomes of fertilization, and we need to consider all four of them:

- An 'A' egg MIGHT join with an 'A' sperm, producing a zygote with the genetics AA.
- An 'A' egg MIGHT combine with an 'a' sperm, producing a zygote with the genetics Aa.
- An 'a' egg MIGHT combine with an 'A' sperm, producing a zygote with the genetics aA. (Technically, the
rules for genetic abbreviations state that when there is a dominant and a recessive allele in a
genotype, the dominant allele is always written first. So, this should be written as Aa. But, I am listing
it as aA, so it's easier to see that the 'a' allele came from the egg.)
- An 'a' egg might combine with an 'a' sperm, producing a zygote with the genetics aa.

Those are the genetics of all possible zygotes that Mom and Dad can have. Thus, those are the genetics
of all possible children this couple can have. There are NO other possibilities for this gene and these two
alleles.

Lets take a closer look at the genetics of this

family, and consider their phenotypes as well.

Figure 10.25 is a diagram of the genotypes and

phenotypes for Mom, Dad, and the four possible
children they can have.

Figure 10.25. Family genetics. These two

parents can have a blue-eyed child.

Notice that three of the four possible offspring genotypes result in brown eyes, while one of the genotypes
results in blue eyes. What does this tell us? First of all, it tells us that these two parents CAN have a blue
eyed child, even though NEITHER parent has blue eyes.

It also tells us HOW LIKELY it is that this will happen. The probability is 1 out of 4, which is the same as
25%. There is a 25% chance that any one of their children will have blue eyes, and a 75% chance that
the child will have brown eyes.

You could also say that, if these two parents have four children, its likely that three of them will brown
eyed, while one will be blue eyed.

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Realize that probabilities arent CERTAINTIES. If you toss a fair coin ten times, it will PROBABLY come
up heads five times. But, it COULD come up heads just one time, or seven, or ten. Similarly, these two
parents COULD have four brown eyed children, or four blue eyed children. They could even have ten
blue eyed children. Its just not very likely.

Lets try another example. Lets use the same genetics for Mom, but this time, lets make Dad
homozygous dominant. Using our standard abbreviations, that means his genotype is AA, and his
phenotype is brown eyes.

First we need to figure out the gametes. There are always TWO types of gametes that Mom and Dad
make. Just like before, half of Moms eggs are' A', and half are 'a'.

What about Dads sperm? Half of them carry the A from ONE of the chromosomes in the homologous
pair. Half of his sperm carry the A from the OTHER chromosome in the homologous pair. In other words,
BOTH of his two types of sperm are genetically the same (at least when considering THIS gene).

Remember, thats what homozygous means. Dad has two copies of the SAME allele for this gene. Thus,
ALL of his sperm get the SAME allele.

Mom's two eggs are A, and a, and Dad's two sperm are A and A. Even though Dad's sperm are
genetically identical, there are ALWAYS two types of gametes. Sometimes, the two types happen to be
genetically the same, as with Dad's sperm in this example.

After making gametes, fertilization comes next. We have two possible TYPES of eggs (A and a), and two
possible TYPES of sperm (A and A).

There are always FOUR possible offspring that can occur with fertilization, and we need to consider all
four of them:

- An 'A' egg MIGHT join with the first 'A' sperm, producing a zygote with the genetics AA.
- An 'A' egg MIGHT combine with the OTHER 'A' sperm, producing a zygote with the genetics AA.
- An 'a' egg MIGHT combine with the first 'A' sperm, producing a zygote with the genetics aA.
- An 'a' egg might combine with the OTHER 'A' sperm, producing a zygote with the genetics aA.

The genotypes and phenotypes of this family are

shown in Figure 10.26. Notice that these two
parents CANT have a blue eyed child. Its
genetically impossible. All of their children will have
brown eyes.

Figure 10.26. Family genetics. These two

parents can't have a blue-eyed child.

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Here's another way to think about this. In order for a child to have blue eyes, it must have two copies of
the 'a' allele in its genotype. It gets one of those copies from Mom, and one from Dad. Thus, to have blue
eyes, the child must get an 'a' allele from its Mom, and also get an 'a' allele from its Dad. But, Dad's
genotype is AA. He doesn't have an 'a' allele to give to his children.

Can two blue-eyed parents have a brown-eyed

child? In order to have blue eyes, a person's
genotype must be aa. Thus, both Mom and Dad
must be aa.

The genotypes and phenotypes of both parents,

their gametes, and their potential offspring are
shown in Figure 10.27.

Figure 10.27. Family genetics. These two

parents can't have a brown-eyed child.

Two blue-eyed parents CANT have a brown eyed child. Its genetically impossible. Having said this, I
have to contradict myself. Were assuming that eye color is determined ONLY by the HERC2 Gene, and
that this gene ONLY has two alleles.

Reality is more complex than this. Eye color is controlled by MANY Genes. Plus, HERC2 has MORE than
two alleles. We're only looking at the most common ones. Further, new mutations can always arise
whenever gametes are made. So it is POSSIBLE that an 'aa' woman could make an 'A' egg, if the HERC2
Gene mutated when that egg was made.

If we looked at ALL of the genetics that determine eye color, wed find that it's POSSIBLE, but unlikely, for
two blue eyed parents to have a brown eyed child. If you happen to be a brown eyed child of blue eyed
parents, please dont accuse your Mom of infidelity!

If you've taken biology before, you probably used a shortcut called a Punnett Square to help you figure
out heredity problems such as these. I haven't used Punnett squares. Why not? They DO help students
get the answers. But, students who use them generally DON'T understand WHY they got the answers. I
want you to understand not only WHAT genotypes children may inherit, but WHY children inherit those
genotypes.

It's possible to figure out the heredity of ANY gene and allele combination. First, determine the TWO
types of eggs that Mom makes and the TWO types of sperm that Dad makes. Then, determine the
FOUR possible combinations of egg and sperm that can result in offspring.

Let's try an example with the ABO Gene. Suppose Mom has Blood Type A, and we know that she's
A A
heterozygous. Thus, we know her genotype is I i. This means that her two kinds of eggs are I eggs, and
i eggs.

Suppose Dad has Type B blood, and we know he is homozygous. Thus, he must have genotype
B B B B
I I , and his two kinds of sperm are I sperm and I sperm. Remember, there are always two types of
eggs and two types of sperm, even if the two types are identical.

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There are always four possible offspring. In this case, they are:

A B
- I I , Type AB Blood
A B
- I I , Type AB Blood
B
- i I , Type B Blood
B
- i I , Type B Blood

These two parents can have children with Blood Type AB, and Type B. They CANT have children with
Blood Type A or Type O. Its likely that half of their children will have Type AB blood, and half of their
children will have Type B blood.

Theres another way to look at this. Suppose a woman has a child, and insists that a certain man is the
father. Suppose blood tests indicate that Mom is heterozygous Blood Type A, the man is homozygous
Blood Type B, and the child is Blood Type A (heterozygous or homozygous wont make any difference in
this case). If this is so, then the man CAN'T be the father.

Blood tests such as these used to be a common method to confirm or rule out paternity, even though they
arent perfect. In the example above, suppose the child had Blood Type AB. This wouldnt PROVE that
the man was the father, it would only suggest that he COULD be.

Now, questions of paternity use a more stringent method called DNA fingerprinting. This compares
stretches of DNA from mother, child, and potential father. Unfortunately, we dont have time discuss DNA
fingerprinting in this course.

Phenotypes Can Be Influenced By More Than One Gene

We've explored a few simple examples of heredity. In reality, most heredity is more complex. There are
many complications to heredity, and most of them are not completely understood. We'll briefly examine
TWO of them.

The first complication is the fact that most phenotypes are influenced by MORE than one gene. When
more than one gene influences a phenotype, it gets very complicated to work out the genetics. It's beyond
the scope of this course.

For example, you've seen that when a phenotype is controlled by one gene, there are four possible
offspring. On the other hand, when a phenotype is controlled by two different genes, there are sixteen
possible offspring. When a phenotype is controlled by three genes, the number of possible offspring
jumps to 64.

Even though the genetics is complex, there's a simple way to guess whether a phenotype is influenced by
more than one gene. If a phenotype shows gradual variation among different people, it's probably under
the influence of several genes at once.

For example, eye color varies gradually among different people (Figure 10.28). There aren't just brown
and blue eyes. There are MANY different shades of blue, brown, and even green. This is strong evidence
that eye color is controlled by several genes.

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 Figure 10.28. Eye color varies gradually
among different people.

In fact, MOST phenotypes are controlled by several genes. Think of a trait such as height. People aren't
just tall or short, with everyone having one height or the other. Height varies gradually among different
people. Thus. it's likely controlled by many genes at once.

Almost every human trait from skin color to the shapes of people's ears varies gradually among different
people. Thus, almost every human trait is probably controlled by several genes. There are very few
phenotypes that are controlled by only one gene.

The Environment Can Influence Gene Expression

Theres another intriguing complication to heredity. The expression of some genes is influenced by the
ENVIRONMENT. If the environment changes, the expression of these genes changes. In other words,
although the genotype doesn't change, the phenotype does.

For example, snowshoe hares, Lepus americanus, usually have brown fur. The genes that control this
coloration are not entirely known. One curious fact about them IS understood. The expression of these
genes depends upon the length of daylight.

As days get shorter in the fall, the expression of the pigmentation genes slows down. Fur that grows in
during this time will lack some color, and be white. When days are very short in the winter, the
pigmentation genes shut down entirely. They aren't expressed at all. New fur that grows in during this
time will be completely white. Its as if the hare has seasonal albinism. The hares genotype hasn't
changed, but its phenotype has, in response to the environment (Figure 10.29).

Figure 10.29. From left to right, a snowshoe hare in summer, fall, and winter.

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This seasonal color change is usually quite useful for the hares, because they live in northern regions that
get lots of snow. As the ground turns white, so do they. It's an effective camouflage. However, since the
color change is influenced by light, hares change white regardless of whether there's snow or not.

During winters without much snow, hares face a high level of mortality from predators because their white
coloration stands out clearly against the dark ground. Interestingly, a few populations of hares in western
North America remain brown in winter. Research into the genetics of these populations is ongoing.

The Genetics of Human Gender

You may be surprised to learn that the environment influences the phenotype of human gender. The
environment in question is the environment INSIDE YOUR BODY. More specifically, I'm talking about the
CHEMICAL environment that surrounds your cells. And, more specifically still, I'm talking about the
amount of TESTOSTERONE in that environment.

The level of testosterone in this cellular environment largely determines whether you will have the 'female'
phenotype, or the 'male' phenotype. (The actual situation is more complex, but we're leaving out
complexities).

Early human embryos look identical, REGARDLESS of whether they will eventually become male or
female. The upper portion of the diagrams in Figure 10.30 show what the internal and external genitalia
look like in BOTH male and female embryos. They are the same.

If testosterone levels remain low throughout development, the genitalia will eventually develop into the
female phenotype. If testosterone levels increase during critical periods of development, the genitalia will
eventually develop into the male phenotype.

Figure 10.30. Human

embryos develop the same
internal and external
genitalia, regardless of
whether they are male or
female. Later, high
testosterone will cause
these structures to develop
the male phenotype. Without
testosterone, the female
phenotype develops.

The chemical environment surrounding cells doesnt just determine gender in the EMBRYO. It also
determines your gender as an ADULT. For example, if a males internal level of testosterone drops
drastically, his phenotype will start to change into that of a female. He will lose facial hair. He will develop
enlarged breasts. His voice will become higher. He will lose upper body muscle.

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Similarly, if a females internal level of testosterone increases dramatically, her phenotype will start to
change into that of a male. She will develop facial hair. She will develop larger upper body muscles. Her
voice will get lower.

This gender change can only go so far in humans. Even if a females level of testosterone increases
dramatically, she will never grow a penis. Similarly, even if a males level of testosterone drops, his penis
wont disappear. Amazingly, there are other organisms which can change sex completely, and do so as a
normal part of their life cycle. Well discuss some of them later in the course.

Several genes ALSO play a role in human sex determination. The only well-studied one is called the SRY
Gene. This is a very strange gene, because only males have it. The SRY gene causes the developing
embryo to produce high levels of testosterone. This means that the embryo will develop the male
phenotype. Thus, if an embryo has the SRY gene, it will become male.

The SRY Gene is located on a very strange chromosome. All humans

have 23 pairs of homologous chromosomes in their cells. One of these
pairs is called the SEX CHROMOSOMES, and they dont look like a
homologous pair. One of the chromosomes is large, while the other is
very small (Figure 10.31).

Figure 10.31. The human sex chromosomes, called X and Y.

The SRY Gene is only on the Y chromosome.

They also dont behave like a normal homologous pair. Some of the genes on the large chromosome are
NOT found on the small one. Likewise, some of the genes on the small chromosome are NOT found on
the large one. However, some genes ARE found on both the large one and the small one. Thats why
theyre still considered homologous.

These two chromosomes are the only ones in the human genome that have names, rather than just
numbers. The large one is called the 'X chromosome', while the small one is called the 'Y chromosome'.
These arent very exciting or original names, but thats what theyre called.

The SRY Gene is ONLY found on the Y chromosome. In fact, SRY is an abbreviation for 'sex-determining
region of the Y chromosome'. The SRY Gene is NOT on the X chromosome.

If an embryo has a Y chromosome, it will have the SRY gene. If it has the SRY gene, it will generate a
high level of testosterone. If it generates a high level of testosterone, it will develop the male phenotype.

Males have one X chromosome and one Y chromosome. Females, on the other hand, have two X
chromosomes (Figure 10.32).

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 Figure 10.32. On the left, the two sex
chromosomes of a male human. On
the right, the sex chromosomes of
a female human.

The X chromosome does not contain the SRY gene. So, female embryos never start producing a high
level of testosterone and they do not develop the male phenotype. Your practice examples for heredity
include some questions about these two chromosomes.

Study Guide For Lesson 10

Alleles and Being Diploid

- do homologous chromosomes always have the same GENES (ignoring the X and Y chromosomes)?
- do homologous chromosomes always have the same ALLELES (ignoring the X and Y
chromosomes)?
- what is the difference between a genotype and a phenotype?
- what is the difference between a homozygous and a heterozygous genotype?
- what is the difference between a dominant and a recessive allele?
- if a heterozygous individual has a dominant and a recessive allele in its genotype, which alleles trait
will show up in that individuals phenotype?
- what are the standard ways to abbreviate dominant and recessive alleles?
- what is the difference between a homozygous dominant and a homozygous recessive genotype?
- when one allele exhibits dominance over another, is it possible to tell the difference between the
phenotypes of a homozygous dominant, and a heterozygous individual?
- if given a recessive allele and a dominant allele, be able to describe the genotypes and phenotypes
for homozygous dominant, homozygous recessive, and heterozygous individuals, and be able to
indicate what their abbreviations would be (e.g. AA, Aa, aa).

Codominance
- if a heterozygous individual has two codominant alleles in its genotype, which alleles trait will show up
in that individuals phenotype?
- what is the standard ways to abbreviate codominant alleles?
- if given codominant alleles, be able to describe the genotypes and phenotypes for heterozygous
individuals, homozygous individuals, and codominant individuals, and be able to indicate what their
abbreviations would be.

Heredity
- if given two parental genotypes, be able to determine the possible genotypes and phenotypes of their
offspring, as well as the percentage chance of those genotypes and phenotypes appearing in their
offspring. Try the practice examples in supplemental material.

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Most Heredity is More Complex
- which is more common - phenotypes that are influenced by only ONE gene, or by MANY genes?
- how can you tell when a phenotype is influenced by more than one gene? (Hint: you have to examine
the trait in more than one person, and notice how it differs among them).
- explain how light influences the coat color of snowshoe hares.
- what environmental influence has an effect on gender determination in humans, and what effect does
it have?
- what gene has an effect on gender determination in humans, and what effect does it have?
- what are the two human sex chromosomes called, and how do they relate to gender?
- what is the genotype of the sex chromosomes in a female human, and in a male?
- what chromosome is the SRY gene located on?
- which gender has the SRY gene in its genome?

VOCABULARY

genotype: The two alleles a diploid organism has for one particular gene.
phenotype: the physical characteristics of an organism which are the result of its genotype.
homozygous: a genotype in which the homologous chromosomes contain identical alleles for a particular
gene. This term can also be used to refer to an organism that has a homozygous genotype.
heterozygous: a genotype in which the homologous chromosomes each contain different alleles for a
particular gene. Unlike a codominant genotype, one allele will be dominant, and the other will be
recessive. This term can also be used to refer to an organism that has a heterozygous genotype.
dominant allele: the allele whose phenotype is visible in a heterozygous individual.
recessive allele: the allele whose phenotype is not visible in a heterozygous individual.
homozygous dominant: a homozygous genotype in which both alleles are the same, dominant, allele.
homozygous recessive: a homozygous genotype in which both alleles are the same, recessive, allele.
codominance: a genotype in which the homologous chromosomes each contain different alleles for a
particular gene. Unlike a heterozygous genotype, both alleles are dominant.
heredity: the process by which parents pass on copies of their genes to their children.
sex chromosomes: one pair of homologous chromosomes that determines gender in some organisms.
Unlike other homologous pairs, they do not contain exactly the same genes.
X chromosome: one of the sex chromosomes. Female humans have two X chromosomes.
Y chromosome: one of the sex chromosomes. Male humans have one X and one Y chromosome.
SRY Gene: a gene found only on the Y chromosome. It triggers the embryo to produce a high level of
testosterone. In turn, this triggers the development of the male phenotype.

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