CHROMOSOMES, GENES AND DNA 227 ,, GENES AND INHERITANCE 249 VARIATION AND SELECTION CHROMOSOMES, GEllES AND

LECTION CHROMOSOMES, GEllES AND ONA 227

NATURAL SELECTION AND EVOLUTION 261 SELECTIVE BREEDING 268

16 CHROMOSOMES, GENES AND DNA

This chapter looks at the structure and organisation of genetic matenal, namely chromosomes, genes and DNA.

W ANING OBJECTIVES
BIOLOGY ONLY
111 Understand that the nucleus of a cell contains
e Understand how a change in the DNA can affect the
chromosomes on which genes are located
phenotype by altering the sequence of amino acids
[ii Understand that a gene is a section of a molecule of in a protein
ONA that codes for a specific protein 11 Understand how most genetic mutations have no
effect on the phenotype, some have a small effect
BIOLOGY ONLY and rarely do they have a significant effect
111 Describe a DNA molecule as two strands coiled to
form a double helix, the strands being linked by a 111 Understand that the incidence of mutations can
series of paired bases: adenine (A) with thymine (T), be increased by exposure to ionising radiation
and cytosine (C) with guanine (G) (for example, gamma rays, x-rays and ultraviolet
rays) and some chemical mutagens (for example,
11 Understand that an RNA molecule is single stranded chemicals in tobacco)
and contains uracil (U) instead of thymine (T)
II! Know that in human cells the diploid number of
ii Describe the stages of protein synthesis chromosomes is 46 and the haploid number is 23
(transcription and translation), including the role of lii Understand that the genome is the entire DNA of an
mRNA, ribosomes, tRNA, codons and anticodons
organism
!!I Understand that mutation is a rare, random change in Ill! Understand how genes exist in alternative forms
genetic material that can be inherited called alleles, which give rise to different inherited
characteristics.

DID YOU KNOW?

DNA is short for deoxyribonucleic
acid. It gets the 'deoxyribo' part
of its name from the sugar in the
DNA molecule - deoxyribose,
a sugar containing five carbon
atoms.

Ibody
(made of cells)
gene
(length
of DNA)

4 Figure 16.1 Our genetic make-up

228 VARIATION AND SELECTION CHROMOSOMES, GENES AND DNA VARIATION AND SELECTION CHROMOSOMES, GENES AND DNA 229

The chemical that is the basis of inheritance in nearly all organisms is DNA. KEY POINT
DNA is usually found in the nucleus of a cell, in the chromosomes (Figure
One consequence of the base-pairing rule is that, in each molecule of ONA, the
16.1). A small section of DNA that determines a particular feature is called
amounts of adenine and thymine are equal, as are the amounts of cytosine and
a gene. Genes determine features by instructing cells to produce particular guanine.
proteins which then lead to the development of the feature. So a gene can also
be described as a section of DNA that codes for a particular protein. DNA is the only chemical that can replicate itself exactly. Because of this, it is
DNA can replicate (make an exact copy of) itself. When a cell divides by able to pass genetic information from one generation to the next as a 'genetic
mitosis (see Chapter 17), each new cell receives exactly the same type and code'.
amount of DNA. The cells formed are genetically identical.

•:mj!'Jftltj/jfj ONA REPLICATION When a cell is about to divide (see Mitosis, Chapter 17) it must first make
an exact copy of each DNA molecule in the nucleus. This process is called
THE STRUCTURE OF DNA replication. As a result, each cell formed receives exactly the same amount
and type of DNA. Figure 16.5 summarises this process.

WHO DISCOVERED ff? James Watson and Francis Crick, working at Cambridge University, discovered
TA TA TA TA TA
the structure of the DNA molecule in 1953 (Figure 16.2(a)). Both were awarded
the Nobel prize in 1962 for their achievement. However, the story of the first A T AT AT AT AT
discovery of the structure of DNA goes back much further than this. Watson
and Crick were only able to propose the structure of DNA because of the - T A T A T A T A TA
work of others - Rosalind Franklin (Figure 16.2(b}} had been researching the
structure of a number of substances using a technique called X-ray diffraction. G G G G G

G G G

A T AT A T

,.
adenine is always
opposite thym ine ... DID YOU KNOW?
1 The polynuc1eotide
strands of DNA
2 Each strand acts as
a template for the formation
4 Two identical DNA molecules
are formed - each contains a
e.., s'Jt phosphate
A 'template' is a pattern that separate. of a new strand of DNA. strand from the parent DNA
.__,s-G
..,r
gj-iS
)It
groups
hold the can be used to make something. 3 DNA polymerase assembles
and a new complementary
strand.
- s- C G --<S)il /nucleotides For example a dress template is
nucleotides into two new
. [.,;, in each strands according to the
5
7'S "ti strand a paper pattern for cutting out base-pairing rule.
cytosine is . \ together
always opposite
.6. Figure 16.2 (a) Watson and Crick .6. Figure 16.2 (b) Rosalind Franklin
the material of a dress.
guanine A Figure 16.5 How DNA replicates itself.
hydrogen bonds with their double helix model (1920-1958)
hold the pairs of
bases together Watson and Crick were able to use her results, together with other material, to THE GENETIC CODE
propose the now-familiar double helix structure for DNA. Rosalind Franklin died
of cancer in 1958 and so was unable to share in the award of the Nobel Prize. Only one of the strands of a DNA molecule actually codes for the manufacture
A molecule of DNA is made from two strands of molecules called nucleotides of proteins in a cell. This strand is called the template strand. The other
(Figure 16.3). Each nucleotide contains a sugar molecule (deoxyribose), a strand is called the non-template strand.
phosphate group and a nitrogen-containing group called a base. There are Many of the proteins manufactured are enzymes, which go on to control
four bases, adenine (A), thymine (T), cytosine (C) and guanine (G) (Figure 16.3). processes within the cell. Some are structural proteins, e.g. keratin in the
skin or myosin in muscles. Other proteins have particular functions, such as
phosphate group haemoglobin and some hormones.
nitrogenous base (adenine,
thymine, cytosine or guanine) Proteins are made of chains of amino acids. A sequence of three bases in
the template strand of DNA codes for one amino acid. For example, the base
A Figure 16.3 The structure of a single nucleotide. sequence TGT codes for the amino acid cysteine. Because three bases are
needed to code for one amino acid, the DNA code is a triplet code. The
thymine Notice that, in the two strands (see Figure 16.4), nucleotides with adenine are
sequence of triplets that codes for all the amino acids in a protein is a gene
G guanine always opposite nucleotides with thymine, and cy1osine is always opposite
c cytosine (Figure 16.6).
guanine. Adenine and thymine are complementary bases, as are cy1osine and
guanine. Complementary bases always link or 'bind' with each other and never
A Figure 16.4 Part of a molecule of DNA.
with any other base. This is known as the base-pairing rule.
230 VARIATION AND SELECTION CHROMOSOMES, GENES AND DNA VARIATION AND SELECTION CHROMOSOMES, GEllES AND DNA 231

one entire gene The template strand of the DNA forms a framework upon which a molecule of
KEY POINT
mRNA is formed. The building blocks of the mRNA are RNA nucleotides. They
DNA base -----+ A T G A A T T G ------------------- T A T T G An RNA nucleotide consists of a ribose
line up alongside the template strand according to the complementary base-
sequences ' - y - - ' '--y---' '---y-J '-- ___, '---y-J '---y-J group, a phosphate and one of four
pairing rules (Table 16.1 ).
bases (C, G, A or U).
amino acids-----+- arginine isoleucine praline leucinephenylalanine
coded for Table 16.1 Base-pairing rules in transcription
one entire protein Base on DNA Base on mRNA
A Figure 16.6 The triplet code. G C
C G
KEV POINT The triplets of bases that code for individual amino acids are the same in all
organisms. The base sequence TGT codes for the amino acid cysteine in T A
A gene is a section of a molecule of A u
humans, bacteria, bananas, monkfish, or in any other organism you can think
DNA that codes for a specific protein.
of - the DNA code is a universal code. One at a time, the RNA nucleotides link up to form an mRNA molecule. They
form bonds between their ribose and phosphate groups, joining together to
THE STAGES OF PROTEIN SYNTHESIS make the sugar-phosphate backbone of the molecule. When a section of
DNA corresponding to a protein has been transcribed, the mRNA molecule
DID YOU KNOW? DNA stays in the nucleus, but protein synthesis takes place in the cytoplasm. leaves the DNA and passes out of the nucleus to the cytoplasm. It leaves
This means that for proteins to be made, the genetic code must be copied, through pores (holes) in the nuclear membrane. The DNA helix then 'zips up'
Ribose and deoxyribose are
and then transferred out of the nucleus to the cytoplasm. This is carried out by again. Because of complementary base pairing the triplet code of the DNA is
very similar in structure. Ribose a different kind of nucleic acid called ribonucleic acid (RNA). converted into a triplet code in the mRNA.
contains an extra oxygen atom.
There are three main differences between DNA and RNA:
Similarly, the bases uracil and
• DNA is a double helix, RNA is a single strand TRANSLATION Converting the code in the mRNA into a protein is called translation. It takes
thymine are very similar in
• DNA contains the sugar deoxyribose, RNA contains ribose place at the ribosomes. By this stage the code consists of sets of three
structure. bases in the mRNA (e.g. AUG, CCG, ACA). These triplets of bases are called
• RNA contains the base uracil (U) instead of thymine (T).
codons. Each codon codes for a particular amino acid, e.g. CCU codes for
Two types of RNA take part in protein synthesis: the amino acid praline, and AUG codes for methionine.
DID YOU KNOW?
• Messenger RNA (mRNA), which forms a copy of the DNA code The mRNA molecule attaches to a ribosome. Now the tRNA molecules begin
There is a third type of RNA called
• Transfer RNA (tRNA), which carries amino acids to the ribosomes to their part in the process. Each has an anticodon of three bases at one end
ribosomal RNA (rRNA). Ribosomes of the molecule, which is complementary to a particular codon on the mRNA.
make the protein.
are made of RNA and protein. At the other end of the tRNA molecule is a site where a specific amino acid
Protein synthesis takes place in two stages, called transcription and translation. can attach (Figure 16.8). In other words there is a particular tRNA molecule
for each type of amino acid. The tRNA molecule carries its amino acid to the
TRANSCRIPTION ribosome, where its specific anticodon pairs up with the three bases of the
Transcription happens in the nucleus. In a chromosome, part of the DNA corresponding mRNA codon.
double helix unwinds and 'unzips', so that the two strands separate, exposing
the bases along the template strand (Figure 16.7 ). :::::::i:1::;:::::::;:::::::;:::i:1 :::::: mRNA
1
f 1
IT!- - codon
c·- - anticodon

tRNA

T
C: G G
A= U T amino acid
T,ccA A
A::U T A Figure 16.B A tRNA molecule with the anticodon UAC, carrying the amino acid methionine.
Go,C G
This interaction between mRNA and tRNA is the basis of translation. The
T A Tc:,A A
template strand non·template strand mRNA process is shown in Figure 16.9.
A Figure 16.7 (a) The DNA double helix, showing some base pairs, (b) the two strands of the DNA
have separated and unwound, (c) a short length of mRNA has formed.
232 VARIATION AND SELECTION CHROMOSOMES, GENES AND DNA VARIATION AND SELECTION CHROMOSOMES, GEllES AND DNA 233

codon 1: codon 2 : codon 3 : codon 4: codon 5: codon 6 REMINDER

(al
AoG!6 6 u!G 6 o!Goo!GGA!A AG,mRNA
1

t}
Summary of protein synthesis:
ili e° \_~(}A ' ' ' The order of bases in the template strand of the DNA fonns the genetic code. The code
Second tRNA is converted into the sequence of bases in the mRNA. In the cytoplasm the sequence of
mRNA bases is used to determine the position of amino acids in a protein.
molecule carry ing
another amino acid
There are 20 different amino acids, so there need to be at least 20 different
Met Pto
codons (and 20 different anticodons). In fact there are more than this, because
some amino acids use more than one triplet code. For example the mRNA
(bl codons GGU, GGC, GGA and GGG all code for the amino acid glycine.

GENE MUTATIONS -WHEN DNA A mutation is a change in the DNA of a cell. It can happen in individual genes
MAKES MISTAKES or in whole chromosomes. Sometimes, when DNA is replicating, mistakes are
made and the wrong nucleotide is used. The result is a gene mutation and it
KEY PO•Nl can alter the sequence of the bases in a gene. In turn, this can lead to the gene
Double Award students only need to coding for the wrong amino acid and therefore, the wrong protein. There are
know that a mutation is a rare, random several ways in which gene mutations can occur (Figure 16.10).
change in the genetic material that can In duplication , Figure 16.10 (a), the nucleotide is inserted twice instead of
be inherited. Students studying Biology
once. Notice that the entire base sequence is altered - each triplet after the
will need to understand this section.
point where the mutation occurs is changed. The whole gene is different and
will now code for an entirely different protein.
!•> A
11t] T GTT AT
In deletion, Figure 16.10 (b), a nucleotide is missed out. Again, the entire base
duplication here sequence is altered. Each triplet after the mutation is changed and the whole
ATT !pf GT TAT
gene is different. Again, it will code for an entirely different protein.

extra T becomes first base of next triplet

In substitution, Figure 16.10 (c), a different nucleotide is used. The triplet of
(d) bases in which the mutation occurs is changed and it may code for a different
amino acid. If it does, the structure of the protein molecule will be different.
!bl A11t] T GTT AT This may be enough to produce a significant alteration in the functioning of a
protein or a total lack of function. However, the new triplet may not code for
deletion here
a different amino acid as most amino acids have more than one code. (In this
AT[] G TTA T case, the protein will have its normal structure and function.)
t In inversions, Figure 16.10 (d), the sequence of the bases in a triplet is
replaced by first base of next triplet
reversed. The effects are similar to substitution. Only one triplet is affected
growing chain of amino acids
and this may or may not result in a different amino acid and altered protein
.& Figure 16.9 Interaction between mRNA and tRNA is the basis of translation (c> AlqJ T GTT AT structure.

It happens as follows: original base Mutations that occur in body cells, such as those in the heart, intestines or
skin, will only affect that particular cell. If they are very harmful, the cell will d ie
• The first tRNA to bind at the mRNA does so at the 'start codon', which Am) T GTT AT and the mutation will be lost. If they do not affect the functioning of the cell
always has the base sequence AUG. This codes for the amino acid subsltuted base in a major way, the cell may not die. If the cell then divides, a group of cells
methionine. containing the mutant gene is formed. When the organism dies, however, the
• Another tRNA brings along a second amino acid. The anticodon of the mutation is lost with it; it is not passed to the offspring. Only mutations in the
second tRNA binds to the next codon on the mRNA. !d) ATT ~ GTT AT gametes or in the cells that divide to form gametes can be passed on to the
next generation. This is how genetic diseases begin.
• A bond forms between the methionine and the second amino acid. inversion here
Sometimes a gene mutation can be an advantage to an individual. For
• The first tRNA molecule is released and goes off to collect another amino ATT CJ'.] GTT AT example, as a result of random mutations, insects can become resistant to
acid. insecticides (see Chapter 15). Resistant insects obviously have an advantage
.& Figure 16.10 Gene mutations (a) duplication,
• More tRNA molecules arrive at the mRNA and add their amino acids to the (b) deletion, (c) substitution, (d) inversion.
over non-resistant types when an insecticide is being used. They will survive
KEY POINT the insecticide treatment and reproduce. Their offspring will be resistant
growing chain, forming a protein.
Protein synthesis is a very energy- and so the proportion of resistant individuals will increase generation after
demanding process and uses a lot of • At the end of the chain a 'stop codon' tells the translation machinery that generation. This is an example of natural selection. Bacteria can become
the ATP made by the cell. the protein is complete, and it is released. resistant to antibiotics in a similar way (see Chapter 19).
234 VARIATION AND SELECTION CHROMOSOMES, GENES AND DNA VARIATION AND SELECTION CHROMOSOMES, GEllES AND DNA 235

Gene mutations are random events that occur in all organisms. The rate at REMINDER The chromosomes are not arranged like this in the cell. The original
which they occur can be increased by a number of agents called mutagens. photograph has been cut up and chromosomes of the same size and shape
Red blood cells have no nucleus and
Mutagens include: 'paired up'. The cell from the male has 22 pairs of chromosomes and two that
therefore no chromosomes. (The lack
of a nucleus means there is more room do not form a pair - the X and Y chromosomes. A body cell from a female has
• ionising radiation (such as ultraviolet light, X-rays and gamma rays)
for carrying oxygen.) 23 matching pairs including a pair of X chromosomes.
• chemicals including mustard gas and nitrous oxide, and many of the
Pairs of matching chromosomes are called homologous pairs. They carry
chemicals in cigarette smoke and the tar from cigarettes.
genes for the same features, and these genes are arranged at the same

iaM•1111:IMM51@U KEY POINl

The X and the Y chromosomes are the
positions and sequence along the chromosome (Figure 16.13). Cells with
chromosomes in pairs like this are diploid cells.
sex chromosomes. They determine a homologous pair of chromosomes
THE STRUCTURE OF CHROMOSOMES whether a person is male or female
(see Chapter 18).
Each chromosome contains one double-stranded DNA molecule. The DNA
is folded and coiled so that it can be packed into a small space. The DNA is
coiled around proteins called histones (Figure 16.11 ). gene
A

genes A, B,
and C each
gene control a
B different
feature

gene
C

• Figure 16.13 Both chromosomes in a homologous pair have the same sequence of genes.
Not all human cells have 46 chromosomes. Red blood cells have no nucleus
and so have none. Sex cells have o nly 23 - just half the number of other
cells. They are formed by a cell division called meiosis (see Chapter 17).
Each cell formed has one chromosome from each homologous pair, and one
of the sex c hromosomes. Cells with only half the normal diploid number of
chromosomes, and therefore only half the DNA content of other cells, are
• Figure 16.11 The structure of a chromosome haploid cells.
Because a chromosome contains a particular DNA molecule, it will also When two gametes fuse in fertilisation, the two nuclei join to form a single
contain the genes that make up that DNA molecule. Another chromosome will diploid cell (a zygote). This cell has, once again, all its chromosomes in
contain a different DNA molecule, and so w ill contain different genes. homologous pairs and two copies of every gene. It has the normal DNA
content.
HOW MANY CHROMOSOMES? Nearly all human cells contain 46 chromosomes. The photographs in
Figure 16.12 show the 46 chromosomes from the body cells of a human male. HOW MANY GENES? The entire DNA of an organism (the amount present in a diploid cell) is known
as its genome. The human genome is made up of about 3.2 billion base pairs.
One of the surprise discoveries of modern molecular biology is that only a
small fraction of the genome consists of protein-coding genes. For example,
2 5 the human genome contains about 20 000-25 000 genes coding for proteins,
which is only about 1.5% of the total DNA. The rest have other functions, or

6 7~
1{ 1( )(
"'
8 )(
9
K 1< 10

J{ JI
11

r
)(
12
..a Figure 16.12 A man's
chromosomes. One of each of
the 22 homologous pairs are
shown, along with the Xand Y
sex chromosomes. A woman's GENES AND ALLELES
functions yet to be discovered! (See the ' Looking ahead' feature at the end of
this chapter.)

Genes are sections of DNA that control the production of proteins in a cell.
13 14 15 16 17 18 chromosomes are the same, Each protein contributes towards a particular body feature. Sometimes the
except that she has two X feature is visible, such as eye colour or skin pigmentation. Sometimes the
I( J( ) chromosomes. A picture of all the feature is not visible, such as the type of haemoglobin in red blood cells or the
19 20 ""
21 22 X
I
y
chromosomes in a cell is called a
karyotype.
type of blood group antigen on the red blood cells.
236 VARIATION AND SELECTION CHROMOSOMES, GENES AND DNA VARIATION AND SELECTION CHROMOSOMES, GENES AND DNA 237

Some genes have more than one form. For example, the genes controlling Each cell with two copies of a chromosome also has two copies of the genes
several facial features have alternative forms, which result in alternative forms on those chromosomes. Suppose that, for the gene controlling earlobe
of the feature (Figure 16.14). attachment, a person has one allele for attached earlobes and one for free
earlobes. What happens? Is one ear free and the other attached? Are they
Form 1 of the gene Form 2 of the gene
both partly attached ? Neither. In this case, both earlobes are free. The 'free'
allele is dominant. This means that it will show its effect, whether or not the
earlobe allele for 'attached' is present. The allele for 'attached' is called recessive.
attachment The recessive allele will only show up in the appearance of the person if there
is no dominant allele present. You will find out more about how genes work in
free eartobe attached earlobe Chapter 18.

LOOKING AHEAO - REGULATING

~~
You have seen how 'normal' gene coding for proteins (known as structural

l~ -
upper eyelid GENES genes) make up only 1.5% of the genome. Some of the rest of the genome is
~ fold
DNA that regulates the action of the structural genes, switching them on and
off. One way this happens is in regions of the DNA called operons.

-
upper eyelid not folded upper eyelid folded
An operon is a group of structural genes headed by a non-cod ing length
of DNA called an operator, along with another sequence of DNA called a
promoter. The promoter starts transcription by binding to an enzyme called
angle of eyes
to nose RNA polymerase. Close to the promoter is a regulatory gene, which codes
for a protein called a repressor. The repressor can bind with the operator,
eyes angled away from nose eyes angled towards nose
preventing the promoter from binding with RNA polymerase, and stopping
transcription (Figure 16.16).
regulatory operon

long eyelashes
)f' short eyelashes
length of
eyelashes
l
t
mRNA - - -
gene
-c=}-----------j promoter ! operator !
~~~~~
A B

structural genes
C f-

.& Figure 16.14 The alternate forms of four facial features repression
repressor o
protein
The gene for earlobe attachment has the form s 'attached earlobe' and 'free
earlobe'. These different forms of the gene are called alleles. Homologous
chromosomes carry genes for the same features in the same sequence, but
A Figure 16.16 An operon is a group of structural genes linked to an operator and a promoter. It is
under the control of a regulatory gene.
the alleles of the genes may not be the same (Figure 16.15). The DNA in the
two chromosomes is not quite identical. The structural genes are in groups because they are related - e.g. they code
for different enzymes in a metabolic pathway. Operons were first discovered
a homologous pair of chromosomes
in bacteria. At first we thought they only existed in prokaryotes, but molecular
biologists have now found them in eukaryotic cells too.

A a

B b

~ _ c C

4 Figure 16.15 A and a, Band b, and Cand care different alleles of the same gene. They control the
same feature but code for different expressions of that feature.