Genetic Engineering

Section 3
Imagining the genome
as a book
The human genome is complex, but for the sake of simplicity
it can be imagined like a book:

• our DNA is composed of letters (chemical bases).

• Put together, these form words (codons)

• which make up sentences (genes)

• which are organized into chapters (chromosomes).

When this book is read, the genes provide the instructions for our
cells, telling them which amino acids are needed to form a protein.
The structure of the genome
1- The letters
• DNA is a complex code system of chemical ‘letters’. It is made up of just four chemical
bases: adenine (A), guanine (G), cytosine (C) and thymine (T), commonly referred to as A, C,
G and T.
• In DNA, these bases are attached to a backbone made of sugar and phosphate.
• Together, a base, sugar and phosphate are known as a nucleotide.
• In the overall structure of DNA there are two strands or chains that pair together:
A and T always bind together, as do C and G.
• A complete DNA molecule contains two paired strands twisted together like a spiral
staircase to form the recognizable DNA double helix (see Fig. 1.3).
2- The words

• The ‘letters’, or bases, in the DNA sequence are ordered into consecutive groups of three
known as codons - the ‘words’ - which each provide the instructions (or genetic code) for a
particular amino acid.

• There are 20 amino acids in humans and the specific sequence of three letters that relate
to them is known as the ‘genetic code’.

• So, for example, the three bases GGT code for the amino acid glycine, but the three bases
TCA code for another amino acid, serine
3- The sentences

• In all species, amino acids are the building blocks of life as they make up proteins.

• Genes, our ‘sentences’, are stretches of DNA where a particular set of codons provides the
instructions to make a protein.

• Protein-coding genes, however, comprise just a tiny fraction – less than 2% - of the
genome, and although we know the function of many of these genes some remain a
mystery.

• The rest of the genome is considered ‘non-coding DNA’. In the past these regions were
often referred to as ‘junk’, but this term is widely considered inaccurate by scientists today,
since many discoveries have been made regarding the biological function of
non-coding regions of our DNA.
4- The chapters
• If we laid out all the DNA from a single nucleated human cell it would be two metres long!

• The DNA is therefore carefully packaged into the nucleus, tightly coiled into structures, like
‘chapters’, called chromosomes (see Fig. 1.4).
4- The chapters
• A nucleus in a human cell contains 46 chromosomes, in pairs – one of each pair from your mother, and one of
each pair from your father.
• There are 22 pairs, known as autosomes, numbered 1-22, and two sex chromosomes. The composition of the
sex chromosomes determines biological gender: XX for females and XY for males.
• Chromosome pairs are called ‘homologous pairs’, so, in a cell, the two copies of Chromosome 1 (one
inherited from your mother and one inherited from your father) are referred to as homologous
chromosomes.
• There are a number of genes within each chromosome.
• The specific location of a gene on a chromosome is referred to as a locus, and different variations of the
genetic sequence at these loci (plural of locus) are called alleles.

• "Locus" is a term that we use to tell us where on a chromosome a specific gene is. So it's really the physical
location of a gene or of a DNA polymorphism on a chromosome. And it's sort of like a street address for
people. And one of the things that we think about when we're thinking about genes and chromosomes is we
may think of the chromosome as a country, and then a region of a chromosome would maybe be the city, and
then we'll get down to a very specific area, which is the locus, and that would be equivalent to, say, a
person's street address. And that's the street address of that gene. An important thing to remember is that
the plural of "locus" is "loci", not "locuses".
4- The chapters

• As we have two copies of each chromosome, we therefore have two copies of each gene.

• Males, however, have only one X chromosome and one Y chromosome, and therefore have
only one copy of the genes located on these chromosomes.

• Collectively, our 46 chromosomes contain the information or instructions to make every

cell, tissue and organ in our bodies.
The function of the genome:
making proteins
The central role of DNA - and certainly the one we
understand the most - is to produce the proteins
that an organism needs to develop and function.

Proteins have many functions – they make up the

structure of cells, they can orchestrate biochemical
processes, and they can act as chemical messengers.

But how do cells use the information in the genome

to produce proteins?
• The cell is a bit like a reference library: it doesn’t allow the genome
(DNA sequence) to leave the nucleus, just like you can’t remove a
reference book from a library.

• So how can the cell get the information that is located in the
nucleus out to the organelles in the cell (known as ribosomes)
whose function it is to take these instructions and make a protein?

• The cell makes a different molecule to carry the genetic

information from the chromosome in the nucleus to the protein-
production machinery.
• That molecule is RNA (ribonucleic acid).
• RNA is very similar to DNA – it also contains bases and has a
backbone of sugar and phosphate. But there are a few important
differences:

1. RNA is a single stranded molecule

2. The sugar in RNA is different to that in DNA (ribose instead of
deoxyribose)
3. The bases in RNA are identical to those in DNA with the
exception that Uracil (U) replaces thymine (T) in RNA
• RNA is very similar to DNA – it also contains bases and has a
backbone of sugar and phosphate. But there are a few important
differences:

1. RNA is a single stranded molecule

2. The sugar in RNA is different to that in DNA (ribose instead of
deoxyribose)
3. The bases in RNA are identical to those in DNA with the
exception that Uracil (U) replaces thymine (T) in RNA
• There are several different subtypes of RNA, each performing a different role or
function.
1. The first involved in protein synthesis (the joining together of amino acids to
make a protein) is mRNA, or messenger RNA, produced by a process called
transcription.
• There are several different subtypes of RNA, each performing a different role or
function.
1. The first involved in protein synthesis (the joining together of amino acids to make a
protein) is mRNA, or messenger RNA, produced by a process called transcription.
2. The term transcription describes the cell’s method of converting the DNA sequence
of a gene into an RNA message that can travel from the nucleus, where the DNA is
found, to the ribosome, where proteins are made.
3. You could think of it like photocopying a section of a chapter and taking this copy
out from the reference library where it could be read in a different location.
4. In order for a protein to be made, the cell needs to produce what is known as a
‘mature’ mRNA - that is, one that can be ‘read’. This production of an mRNA has
several steps.
• Genes are composed of introns and exons.
1. Exons contain the information to produce the amino acids that make up our
proteins (as described in the previous step).

2. Introns contain important regulatory information, but do not directly contain

information about amino acid sequence – and therefore need to be removed
before the mRNA is ‘read’ by the ribosome in order for the correct amino acids to
be added in the correct order.

3. Introns are removed from the initial mRNA transcript by a process known as
splicing (see Fig. 1.6) – and are not included in the final mRNA transcript (known
as the mature RNA).
• Genes are composed of introns and exons.
1. Exons contain the information to produce the amino acids that make up our
proteins (as described in the previous step).

2. Introns contain important regulatory information, but do not directly contain

information about amino acid sequence – and therefore need to be removed
before the mRNA is ‘read’ by the ribosome in order for the correct amino acids to
be added in the correct order.

3. Introns are removed from the initial mRNA transcript by a process known as
splicing (see Fig. 1.6) – and are not included in the final mRNA transcript (known
as the mature RNA).
• At the ribosomes, the mRNA code is ‘translated’ so that the right amino acids are
added in the right order to form a chain of amino acids.
• This is known as a polypeptide chain. Every three bases on the mRNA codes for
an amino acid (see Fig. 1.7).
• A different type of RNA, known as tRNA or transfer RNA, carries amino acids to
the site of protein synthesis.
• There are many different tRNAs within a cell.
1. One end of the tRNA matches the codon, while the other end is chemically
attached to the amino acid that corresponds to that codon (see Fig. 1.7).
2. This process continues until the ribosome reaches a stop codon which tells the
cell that this is the end of the polypeptide sequence, and no more amino acids
are added.
• Most proteins then undergo further modification, such as being packaged into
larger molecules, or undergo additional chemical modifications.

• Amazingly, protein coding sequences only make up a small proportion of the

human genome, so what about the rest? We’ll cover that in the next step.
• Most proteins then undergo further modification, such as being packaged into
larger molecules, or undergo additional chemical modifications.

• Amazingly, protein coding sequences only make up a small proportion of the

human genome, so what about the rest? We’ll cover that in the next step.
The other 98%?
 Thank You
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