How Genes Work

Chapter 9

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 DNA or Protein?
Mendels work left a key question unanswered:
What is a gene?

The work of Sutton and Morgan established that

genes reside on chromosomes
But chromosomes contain proteins and DNA
So which one is the hereditary material

Several experiments ultimately revealed the

nature of the genetic material.DNA

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9.3 Discovering the Structure of DNA
DNA is made up of nucleotides
Each nucleotide has a central sugar, a
phosphate group and an organic base

The bases are of two main types

Purines Large bases
Adenine (A) and Guanine (G)
Pyrimidines Small bases
Cytosine (C) and Thymine (T)

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Fig. 9.3 The four nucleotide subunits that make up DNA

Nitrogenous
base

5-C sugar

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Fig. 9.4 The DNA
double helix

Erwin Chargaff made

key DNA observations
that became known as Purines = Pyrimidines
Chargaffs rule
A = T and C = G

The two
possible
basepairs

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In 1953, James Watson and Francis Crick deduced
that DNA was a double helix
They came to their conclusion using Tinkertoy
models and the research of Chargaff and Franklin

Fig. 9.4

James Watson Francis Crick

(1928- ) (1916-2004)

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9.4 How the DNA Molecule Replicates
The two DNA strands are held together by weak
hydrogen bonds between complementary base pairs
A and T
C and G

If the sequence on one strand is ATACGCAT

The others sequence must be TATGCGTA

Each chain is a complementary mirror image of the

other
So either can be used as template to reconstruct the other

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There are 3 possible methods for
DNA replication
Fig. 9.5
Daughter DNAs
contain one old
and one new
strand

Old and new

Original DNA DNA are
molecule is dispersed in
preserved daughter
molecules

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How DNA Copies Itself
The enzyme helicase first unwinds the double helix
The enzyme primase puts down a short piece of RNA termed the primer
DNA polymerase reads along each naked single strand adding the
complementary nucleotide

Fig. 9.8

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 Transcription & Translation
Gene expression is the use of information in DNA to direct the production
of proteins
The path of genetic information is often called the central dogma

DNA RNA Protein

Fig. 9.10

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 transcription translation

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 9.5 Transcription
The transcriber is Fig. 9.11

RNA polymerase
It binds to one DNA
strand at a site
called the promoter
It then moves along
the DNA pairing
complementary
nucleotides
It disengages at a
stop signal
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 Transcription & Translation
A cell uses three kinds of RNA to make proteins
Messenger RNA (mRNA)
Transfer RNA (tRNA)
Ribosomal RNA (rRNA)

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 9.6 Translation
Translation converts the order of the nucleotides of
a gene into the order of amino acids in a protein

The rules that govern translation are called the

genetic code

mRNAs are the blueprint copies of nuclear genes

mRNAs are read by a ribosome in three-
nucleotide units, termed codons
Each three-nucleotide sequence codes for an
amino acid or stop signal

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Fig. 9.12

What happened to Thymine (T)?

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Making the Protein

mRNA binds to the

small ribosomal
subunit
The large subunit
joins the complex,
forming the
complete ribosome
mRNA threads
through the
ribosome producing Fig. 9.16
the polypeptide
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Transfer RNA Hydrogen
bonding causes
hairpin loops
tRNAs bring amino
acids to the ribosome
They have two
business ends
Anticodon which is
complementary to
the codon on
mRNA
3-D shape
3OH end to
which the amino
acid attaches Fig. 9.14
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 Fig. 9.15 How translation works

The process continues until a stop codon enters the A site

The ribosome complex falls apart and the protein is released
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 transcription translation

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 9.7 Architecture of the Gene
In eukaryotes, genes are fragmented
They are composed of
Exons Sequences that code for amino acids
Introns Sequences that dont

Eukaryotic cells transcribe the entire gene,

producing a primary RNA transcript
This transcript is then heavily processed to
produce the mature mRNA transcript
This leaves the nucleus for the cytoplasm

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 Fig. 9.17 Processing eukaryotic mRNA

Protect from
degradation
and facilitate
translation

Different combinations of exons can generate different

polypeptides via alternative splicing
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 6. The polypeptide chain
grows until the protetin is Amino
completed. acid
7. Phosphorylation or other
chemical modifications can
alter the activity of a protein
after it is translated.
Completed
polypeptide tRNA

Ribosome moves
toward 3 end

Cytoplasm Ribosome
Fig. 9.18 How 5. tRNAs bring their amino
acids in at the A site of the
ribosome. Peptide bonds
protein synthesis form between amino acids at
the P site, and tRNAs exit the 4. tRNA molecules
become attached to
ribosome from the E site.
works in specific amino acids
with the help of
activating enzymes.
eukaryotes DNA
Amino acids are
brought to the
ribosome in the order
dictated by the mRNA.
Nuclear
3 membrane
3
RNA
polymerase Cap
5
1. In the cell nucleus, RNA 5 Small
polymerase transcribes ribosomal
RNA from DNA 3 subunit
5 Primary
RNA transcript Nuclear
pore
5 Large
3 Exons Cap ribosomal
Poly-A mRNA subunit
tail
Poly-A
Introns tail
mRNA 3. mRNA is transported out of the
3 nucleus. In the cytoplasm, ribosomal
2. Introns are excised from the RNA subunits bind to the mRNA
transcript, and the remaining exons are
spliced together, producing mRNA

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 9.9 Mutation
The genetic material can
be altered in two ways
Recombination
Change in the
positioning of the
genetic material
Mutation
Change in the
content of the
Bithorax mutant
genetic material
Fig. 9.22

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 9.9 Mutation
Mutation and recombination provide the raw material
for evolution
Evolution can be viewed as the selection of particular
combinations of alleles from a pool of alternatives
The rate of evolution is ultimately limited by the
rate at which these alternatives are generated
Mutations in germ-line tissues can be inherited
Mutations in somatic tissues are not inherited
They can be passed from one cell to all its
descendants

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Kinds of Mutation

Mutations are caused in one of two ways

Errors in DNA replication

Mispairing of bases by DNA polymerase

Mutagens
Agents that damage DNA

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Kinds of Mutation

The sequence of DNA can be altered in one of two

main ways

Point mutations
Alteration of one or a few bases
Base substitutions, insertion or deletion

Frame-shift mutations
Insertions or deletions that throw off the
reading frame

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Fig. 9.23

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Kinds of Mutation

The position of genes can be altered in one of two

main ways

Transposition
Movement of genes from one part of the
genome to another
Occurs in both eukaryotes and prokaryotes

Chromosomal rearrangements
Changes in position and/or number of large
segments of chromosomes in eukaryotes
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Mutation, Smoking and Lung Cancer

Agents that cause cancer are called carcinogens

These are typically mutagens

The hypothesis that chemicals cause cancer was

first advanced in the 18th century
Many investigations since then have determined
that chemicals can cause cancer in both animals
and humans
For example, tars and other chemicals in
cigarette smoke can cause cancer of the lung

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