B12 Inheritance

In this chapter we will learn about:

- chromosomes and genes
- haploid and diploid nuclei
- cell division by mitosis and meiosis
- how to use genetic diagrams to predict and explain inheritance.

B12.01 Chromosomes.

In the nucleus of each cell there are a number of very long threads called
chromosomes. Most of the time the chromosomes are too thin to be seen with the
exception of an electron microscope. However when the cell is dividing they get much
shorter and fatter so much so that they can be seen with a light microscope.

Note: 1 𝛍m is equal to 1/1000000 of 1 metre.

Each chromosome contains one very long molecule of DNA. The DNA or
deoxyribonucleic acid contains a code that instructs the cell about which kinds of
proteins it should make. Each chromosome contains instructions for making many
different proteins. A part of a DNA molecule for coding one type of protein is called a
gene.

The genes on your chromosomes determine all sorts of things about you: your hair colour,
eye colour, the shape of your nose and even whether you get certain diseases or not, all of
these amongst many many other characteristics. You inherited your genes from your
parents.

Each species has its own number and variety of genes. This is what makes their body
chemistry, their appearance and their behaviour different from other species.
For the rest of this chapter we will be dealing with human genetics, although many of the
concepts and ideas can also be applied to other species.

Humans have a relatively large number of genes, you have 46 chromosomes in each
of your nuclei all of which have many genes on them. Every cell in your body has an
exact copy of your genes in them. Unless you are an identical twin, no one else in the
world will have the same combination of genes that you have. You are unique.

Key terms
Chromosome: a thread-like structure of DNA carrying information in the form of
genes.
Gene: a length of DNA that codes for a particular protein.

B12.02 Cell division.

You began your life as a single cell called a zygote, which was formed by the fusion of
two gametes. A sperm cell from your father and an egg cell from your mother. Each of
these gametes contain 23 chromosomes each which when combined together they
made a cell with 46 chromosomes.

A cell with a single set of chromosomes, such as a gamete, is called a haploid cell;
they contain half the number of chromosomes. A cell with two sets of chromosomes
is called a diploid cell, di meaning two.

Key terms.
Haploid nucleus: a nucleus containing a single set of unpaired chromosomes (e.g. in
gametes)
Diploid nucleus: a nucleus containing two sets of chromosomes (e.g. in body cells)

All the cells in your body are diploid cells with the exception of the sperm cells or
eggs cells depending on your sex.
This diagram shows the chromosomes in a male and a female. They have been
arranged in order from the largest to the smallest. You can see that there are two
chromosomes of each kind, because they are diploid cells. In each pair there is one
from the mother and one from the father. The two identical chromatids are joined
together at a point called the centromere. The two chromosomes of a pair are called
homologous chromosomes.

Mitosis.
Soon after the zygote was formed, it began to divide over and over again, producing a
ball of cells that eventually became you. Each time a cell divided, the two new cells
produced were provided with a perfect copy of the two sets of chromosomes in the
original zygote. The new cells produced were genetically identical.

This type of cell division, which produces genetically identical cells, is called mitosis.

Mitosis is the way in which any cells, plant or animal, divides when an organism is
growing, or repairing a damaged part of the body. It produces new cells to replace
damaged ones. Mitosis is also used in asexual reproduction.

Just before mitosis takes place the chromosomes in the parent cell are copied. Each
copy remains attached to the original one, so each chromosome is made up of two
identical threads joined together. The two threads are called chromatids, and the point
where they are held together is called the centromere.

In the diagram below we can see the process in which a cell with four chromosomes, two
sets of two, divides by mitosis. Two new cells are formed, each with a copy of each of the
four chromosomes. As the new cells grow, they make new copies of each chromosome,
ready to divide again.
Key term
Mitosis: nuclear division giving rise to genetically identical cells.

Meiosis
As we have seen before gametes have only half the number of chromosomes of a
normal body cell. They have only one set of chromosomes rather than two sets. This
is so that when they fuse together to form a zygote it has two sets of chromosomes.

Human gametes are formed by the division of cells in the testes and ovaries. The cells
divide by a special type of cell division called meiosis. Meiosis shares out the
chromosomes so that each new cell gets only one of each type. The diagram below
shows what happens in meiosis.

You may remember that one of each pair of homologous chromosomes come from the
mother and one from the father. During meiosis, the new cells get a mixture of these.
So a sperm cell could contain chromosome 1 from the man's father and a
chromosome 2 from his mother and so on. There are all sorts of different
combinations, this is one of the reasons why gametes are genetically different from
the parent cell.

Key term
Meiosis: reduction division in which the chromosome number is halved from diploid
to haploid, resulting in genetically different cells.
B12.03 Inheritance.

We have seen that chromosomes each contain many genes, it is estimated that there are
about 20,000 human genes, carried on our two sets of 23 chromosomes. Because you have
two complete sets of chromosomes in each of your cells, you have two complete sets of
genes. Each chromosome in a homologous pair contains genes for the same characteristic
in the same position. This is true for all animals and most plants. Let us look at one kind of
gene to see how it behaves and how it is inherited.

Key term.
Inheritance: the transmission of genetic information from one generation to the next.

Genes and alleles

In hamsters, genes determine the colour of the fur. The genes are sets of instructions for
producing the proteins that cause the different fur colours.

There are several different forms of fur colour gene. The different forms are called alleles.
We can refer to these alleles by using different letter symbols. For example, we could give
the allele that gives grey fur the symbol G and the allele that gives charcoal fur g.
The letter that you use is not important however once you have decided which symbols you
are going to use you must stick with it. Also the capital letters are reserved for alleles
which are dominant and the smaller letters are reserved for alleles which are
recessive.

In each cell of the hamster's body, there are two copies of the gene giving instructions
about which kind of fur colour protein to make. This means that there are three
different possibilities. A hamster may have two dominant alleles -GG, once of each -
Gg or two recessive alleles - gg.
If the two alleles are the same, GG or gg, then they are called heterozygous. If the two
alleles are different then they are called homozygous.

Key term
Allele: a version of a gene

Genotype and phenotype.

The genes that a hamster has are its genotype. Its genotype for fur colour for example
could be GG,Gg or gg. If its genotype is GG, then it has grey fur, if its genotype is gg
then it has charcoal fur. If its genotype is Gg, then it also has grey fur- the dominant
allele controls the fur colour in this case.

The features that a hamster has are called its phenotype. This can include what it
looks like- for example the colour of its fur-as well as things that we can not see, such
as what kind of protein it has in its cell membranes.

You can see that, in this example, the hamsters phenotype for colour depends entirely on its
genotype. This is not always the case. Some features, such as how big it grows, can be
affected by what it eats as well as by its genotype. However, for the moment, we will only
consider the effect that the genotype has on the phenotype, and not worry about effects that
the environment may have.

Key term
Genotype: the genetic makeup of an organism in terms of the alleles present
Phenotype: the observable features of an organism.

Dominant and recessive alleles

We have seen that there are three possible genotypes for hamster fur colour, but there
are two phenotypes. We can summarise this situation as follows:

Genotype Phenotype

GG grey

Gg grey

gg charcoal

This happens because the allele G is dominant over the allele g. A dominant allele has just
as much effect on phenotype when there is one or two of it. A hamster that is homozygous
for a dominant allele has the same phenotype as a hamster that is heterozygous. A
heterozygous hamster is said to be a carrier of the charcoal colour because it has the allele
for it but does not have a charcoal coloured fur.
The allele g is recessive. A recessive allele only affects the phenotype when there is
no dominant allele present. Only hamsters with the genotype gg - homozygous
recessive - have charcoal fur.

Alleles in gametes
Each gamete has only one of each kind of chromosome instead of two, as in the body
cells. So, for example, human egg and sperm cells have 23 chromosomes, not 46 as
in body cells. These cells, therefore, only carry one of each pair of alleles of all of the
genes.

Imagine a male hamster that has the genotype Gg. It is a carrier for charcoal fur. In its
testes, sperm are made by meiosis. Each sperm cell gets either a G allele or a g allele.
Half of his sperm will have the genotype G and the other half will have the genotype g.

Questions.
B12.01 What are chromosomes made of?
B12.02 What are homologous chromosomes?
B12.03 What are alleles?
B12.04
a.
The allele for brown eyes is dominant to the allele for blue eyes. Write down suitable
symbols for these alleles.

b.
What is the phenotype of a person who is heterozygous for this characteristic?

B12.05 If a normal human cell has 46 chromosomes, how many chromosomes are there in a
human sperm cell?

B12.06 Using the symbol N for normal wings and n for vestigial wings (very small wings),
write down the following:
a. The genotype of a fly which is heterozygous for this characteristic.
b. The possible genotypes of its gametes.

Genes and fertilisation.

If this heterozygous hamster is crossed with a female with charcoal colour fur (genotype gg),
will their offspring have charcoal fur?

The eggs that are made in the female's ovaries are also made by meiosis. She can only
make one kind of egg. All of her eggs will have the allele g. This is because her genotype
only contains g.

When the hamsters mate, hundreds of thousands of sperm will begin a journey towards the
egg. Half of them will carry a G allele and the other half will carry a g allele. If there is an egg
in the female's oviduct then it will probably be fertilised. There is an equal chance of either
kind of sperm reaching the egg first.
If a sperm with a G allele reaches the egg first then the genotype will be Gg. The G allele
from the father and a g allele from the mother. In this case the offspring will have grey fur, as
the G allele is dominant (Gg phenotype).

If a g allele reaches the egg first then the genotype will be gg. The g allele will be from the
father and the g allele from the mother. In this case the hamster will have charcoal fur (gg
phenotype).

Genetic diagrams
There is a standard way of expressing all of this information in a clear and easy to
understand format. It is called a genetic diagram.

First we write down the phenotypes and genotypes of the parents. Next we write down the
different types of gametes that they can make.

Parents phenotypes grey charcoal

Parents genotypes Gg gg

Gametes G or g g

Next we write down a table of what might happen during fertilisation. Either kind of sperm
may fuse with an egg.

Egg

Sperm G Gg grey

g gg charcoal

This part of the process is called a Punnett square.

Here we can see that there is a 50% chance of a grey hamster and a 50% chance of a
charcoal hamster.
But what would happen if both parents were heterozygous?

Parents phenotypes grey grey

Parents genotypes Gg Gg

Gametes G or g G or g

egg

G g

Sperm G GG (grey) Gg (grey)

g Gg (grey) gg (charcoal)

Here we can now see that 25% will be homozygous grey hamsters, 50% will be
heterozygous grey hamsters that are carriers of the recessive g allele and 25% will be
homozygous charcoal hamsters.

Or another way to say this is that 75% of the offspring will be grey and 25% will be charcoal
coloured.

Probabilities in genetics.

It is very important to note that these tables do not tell you how many offspring will be
born, it only tells you the probability of any one offspring having a particular
phenotype.

As we know probability is not certainty. It is only an expression of what may happen and
not what will happen. If the pair of hamsters in the previous example did have four offspring,
then probability tells us that 3 will be grey and 1 will be charcoal. However it is perfectly
possible that 2 will be grey and 2 will be charcoal.

If this reproductive process was to be repeated many times then eventually the percentages
of offspring with the expected characteristics will appear.

Think of flipping a coin, you have a 50% chance of heads and a 50% chance of tails. If you
flip the coin four times will you always get 2 heads and 2 tails? No, you may get 4 heads or
four tails, or any mixture of the two but eventually you will get 50% each after many
hundreds of times.
Pure breeding.
Some populations of animals or plants always have offspring just like themselves. For
example a rabbit breeder might have a strain of rabbits that always have brown fur. If the
breeder interbreeds them with each other all the offspring will have brown fur too. The
breeder has a purebred strain of brown rabbits. Pure breeding strains are always
homozygous for the pure breeding characteristics.
However if rabbits are heterozygous then they are likely to produce offspring with different
coloured fur. They are not pure breeding, heterozygous individuals are not pure breeding.

Sex determination.

The last pairs of chromosomes in the photograph in page 3 are responsible for
determining the sex a person will be. They are called the sex chromosomes. A
woman's chromosomes are both alike and are called X chromosomes. She has the
genotype XX. A man, though, has only one X chromosome and one Y chromosome.
He has a genotype of XY.

You can work out the sex inheritance in just the same way as for any other
characteristic but using the letters X and Y for the whole chromosome rather than just
the alleles.

Parents phenotypes male female

Parents genotypes XY XX

Gametes X or Y X

egg

Sperm X XX

Y XY
Questions B12.07
Using a complete genetic diagram , work out what kind of offspring would be produced if a
heterozygous fly, which is a carrier for vestigial wings, mated with a homozygous fly with
normal wings.

B12.08
a. In humans, the allele for red hair , b, is recessive to the allele for brown hair, B. A
man and his wife both have brown hair. They have five children, of which three have
red hair and two have brown hair. Explain how this may happen, using a genetic
diagram.
b. The pedigree diagram shows hair colour in three generations of a family. Squares
represent males and circles represent females.

What are the genotypes of person 1 and 3?

What is the phenotype of person 2?

B12.09
In Dalmatian dogs, the allele for black spots is dominant over the allele for liver spots. If a
breeder has a black spotted dog, how can she find out if it is heterozygous or homozygous
for this characteristic?

Use genetic diagrams to explain your answer.

End of chapter summary.
You should know about:
- Chromosomes and genes
- How and why cells divide by mitosis
- How and why cells divide by meiosis
- Haploid and diploid nuclei
- Genotypes and phenotypes including dominant and recessive alleles
- How to use genetic diagrams to predict or explain the results of crosses
- How to interpret pedigree diagrams.

End of chapter questions.

1. In guinea pigs, the allele for smooth fur is dominant to the allele for rough fur.
a. Suggest suitable symbols for these two alleles.
b. Write down three possible genotypes for the alleles.
c. Write down the phenotype that each of these genotypes will produce.

2. In a species of plant, flower colour can be red or white. Heterozygous plants have red
flowers.

a. Choose suitable symbols for the allele of the flower colour gene.
b. Which allele is dominant and which is recessive? Explain your answer.
c. Write down all the possible genotypes for the flower colour in this plant, and the
phenotypes they will produce.

3. Explain the difference between each of the following pairs of terms:

a. Gene, allele
b. Dominant, recessive
c. Homozygous, heterozygous
d. Genotype, phenotype
e. Mitosis, meiosis
f. Haploid, diploid.

4. The leaves of tomato plants can have leaves with smooth or indented edges. The allele
for indented edges is dominant and the allele for smooth edges is recessive.

a. Write down the genotypes of a homozygous smooth plant and homozygous indented
plant. (2)
b. A pure breeding (homozygous) smooth plant was crossed with a homozygous
indented plant. All of the offspring had indented leaves.
Construct a complete genetic diagram to explain how this happened. (4)
c. Several of these indented offspring were crossed together. There were 302 plants
with indented leaves and 99 with smooth leaves. Construct a complete genetic
diagram to explain how this happened.
5. Rabbits are often kept as pets. People try to breed rabbits with unusual colours, such as,
himalayan colouring. The photograph shows a rabbit with himalayan colouring. The rabbit's
fur is white with some black areas.

a. Completely white fur and himalayan coloured fur are produced by two alleles of a
gene. When a white rabbit and a himalayan rabbit are bred together, all the offspring
are white. When two of these white offspring are bred together, one quarter of the
offspring are himalayan and the other three quarters are white.
i. Identify which allele is dominant and which is recessive, and suggest suitable symbols for
the two alleles. (2)
ii. Two rabbits are heterozygous for these alleles are crossed. Construct a genetic diagram,
using your symbols from part i, to explain the results of this cross. (4)

b. Rabbits, like humans, keep their internal body temperature constant. The body
temperature of a rabbit is 38.5ºc.
i. Explain how a rabbit generates heat within its body. (2)
ii. Suggest how the fur of a rabbit helps them to maintain its body temperature higher than
that of the surrounding environment. (2)
iii. When himalayan rabbits are first born, they are white all over. The black colour develops
gradually. The black pigment is produced by the action of an enzyme that is only active at
temperatures below 25ºc.
Use this information to suggest a reason for the distribution of black fur on the body of a
himalayan rabbit..