THE NATURE OF THE GENE, ALLELES,

AND MUTATION
Todays questions: At the molecular level, what is a
gene? A mutation? An allele?

1. Sources of variation
2. The molecular nature of the gene
3. The Central Dogma of molecular biology
4. The molecular nature of mutation (and alleles)

1. The molecular nature of genes

1. Genes are made of DNA








The current definition of a gene:
A section of DNA (or RNA) that encodes information for building
one or more related polypeptides or functional RNA molecules,
along with the regulatory sequences required for its transcription

A T G T G T G T G G C C G T A T G C T G G T A T G C T C
T A C A C A C A C C G G C A T A C G A C C A T A C G A G
Molecular nature of genes
Sets of 3 bases in DNA can specify an amino
acid
A T G T G T G T G G C C G T A T G C T G G T A T G C T C
T A C A C A C A C C G G C A T A C G A C C A T A C G A G
Start Cysteine Valine Alanine
Valine
Cysteine
Trypto-
phan
Tyrosine Alanine
Molecular nature of genes
Genes include regions that code for RNA or protein
products that function in the cell.






. .as well as regulatory regions (involved in turning
genes on, off, up, or down)
Ed 5: Fig. 19.6 & Ed 4: Fig 18.7
Molecular nature of genes
The importance of regulatory sequences

1. Muscle cells and nerve cells contain the same
chromosomes. Why are the cells so different?

2. In many cases, the proteins produced by homologous genes
in chimps and humans are identical or nearly identical. Why
are the two species so different?
2. The central dogma of molecular biology
DNA
(information storage)
mRNA
(information carrier)
Proteins
(active cell machinery)
Transcription
Translation
The central dogma of molecular biology
Importance of the genetic code
Property
(what do we mean?)
Significance?
It is redundant
(Amino acids are coded by more than
one codon)


It is unambiguous
(A single codon never codes for more
than one amino acid)


It is nearly universal
(the same amino acids are found in all
organisms)


It is conservative (when several
codons code for the same amino acids,
the first 2 base pairs are identical)


3. The molecular basis of mutation
When chromosomes replicate, DNA is copied
by enzymes





Enzymes make mistakes, at random
Edn 4: Figures 14.7, 14.8, 14.14
Edn 5: Figures 15.7, 15.8, 15.15
The molecular basis of mutations
1. In coding regions, some copying errors change
the DNA base sequence and change the protein
product



5

TCTCAAAAATTTACG 3

3

AGAGTTTTTAAATGC 5

Ser Gln Lys Phe Thr
5

TCTCAAAGATTTACG 3

3

AGAGTTTCTAAATGC 5

Ser Gln Arg Phe Thr
The molecular basis of mutations
2. In coding regions, some copying errors change
the DNA base sequence but do NOT change the
protein product



5

TCTCAAAAATTTACG 3

3

AGAGTTTTTAAATGC 5

Ser Gln Lys Phe Thr
5

TCTCAAAAGTTTACG 3

3

AGAGTTTTCAAATGC 5

Ser Gln Lys Phe Thr
The molecular basis of mutations
3. In coding regions, some copying errors change
the DNA base sequence that result in an early stop
codon



5

TCTCAAAAATTTACG 3

3

AGAGTTTTTAAATGC 5

Ser Gln Lys Phe Thr
5

TCTCAAAAGTTTACT 3

3

AGAGTTTTCAAATGA 5

Ser Gln Lys Phe STOP
The molecular basis of mutations
4. In coding regions, some copying errors cause the
addition or deletion of a nucleotide


5

TCTCAAAAATTTACG 3

3

AGAGTTTTTAAATGC 5

Ser Gln Lys Phe Thr
5

TCTCAAAATTTACG 3

3

AGAGTTTTAAATGC 5

Ser Gln Leu Asn
Type of mutation
in coding region
Effect on the
phenotype?
Does this mutation
create alleles?
1. Change
sequence, change
protein
2. Change
sequence, does not
change protein
3. Create a stop
codon
4. Addition or
deletion of a base
pair
What is an allele?
B- -b
1. Homologous
chromosomes
2. DNA in homologous
chromosomes
3. DNA sequence in
homologous
chromosomes
5

T
C
T
C
A
A
A
A
A
T
T
T
A
C
G

3

A
G
A
G
T
T
T
T
T
A
A
A
T
G
C

5

T
C
T
C
A
A
A
G
A
T
T
T
A
C
G

3

A
G
A
G
T
T
T
C
T
A
A
A
T
G
C

5

5

TCTCAAAAATTTACG 3

3

AGAGTTTTTAAATGC 5

4. DNA sequence in
homologous
chromosomes
(flipped)
5

TCTCAAAGATTTACG 3

3

AGAGTTTCTAAATGC 5

Four Sources of genetic variation
Source How does it
create
variation?
When does it
occur?
What is the
physical cause?
Independent
Assortment
Recombination

Outcrossing

Mutation