HOW GENES
WORK
Chapter 16
OBJECTIVES
What are the functions of genes?
What is the link between genotype and phenotype?
What are the properties of the genetic code?
How can mutations change genetic information?
GENE EXPRESSION:
HOW IS DNA CONVERTED
INTO MOLECULES THAT
PERFORM FUNCTIONS?
Brainstorm in your noteboook
BEADLE AND “One ought to be able to
discover what genes do by
TATUM making them defective”
Beadle and Tatum proposed the one-gene, one-enzyme
hypothesis based on _____.
B
A
normal N. crassa strains that gained
normal N. crassa strains that
the ability to synthesize novel
synthesized certain compounds
compounds
C D
N. crassa knockout mutants that
N. crassa knockout mutants that
lacked the ability to synthesize certain
gained the ability to synthesize
compounds when the enzyme needed
certain compounds
was mutated
LOSS OF FUNCTION
How to discover what genes do
1 2 3
OBSERVE THE THIS IS CALLED NULL OR
DAMAGE THE GENE
PHENOTYPE LOSS-OF-FUNCTION
ALLELES
LOSS OF FUNCTION
N. crassa or bread mold
1 2 3
CONCLUSION: THE
OBSERVE THE
MUTATED GENE IS
DAMAGE THE GENE WITH PHENOTYPE: ABILITY TO
REQUIRED FOR SYNTHESIS
RADIATION SYNTHESIZE MOLECULES
OF THE MOLECULE
ONE-GENE, ONE ENZYME HYPOTHESIS
Each gene contains information to make an enzyme
DIFFERENT ENZYMES CATALYZE EACH STEP
IN THE METABOLIC PATHWAY FOR ARGININE
SRB AND HOROWITZ gene
Is the one-gene, one-enzyme hypothesis correct? Enzyme
DNA
Metabolic pathway
SRB AND HOROWITZ
Is the one-gene, one-enzyme hypothesis correct?
Genetic screen
This colony cannot
make arginine
Lacking arginine
With all nutrients
SRB AND HOROWITZ
Is the one-gene, one-enzyme hypothesis correct?
Control
No growth
SRB AND HOROWITZ
Is the one-gene, one-enzyme hypothesis correct?
Results
SRB AND
HOROWITZ
Is the one-gene, one-
enzyme hypothesis
correct?
Conclusion
The one-gene, one-
enzyme hypothesis
is supported
ONE-GENE, ONE-POLYPEPTIDE
HYPOTHESIS
gene
Chromosome mRNA polypeptide
DNA
Most genes contain instructions for making proteins
According to the central dogma, what is the intermediate
molecule involved in the flow of information in a cell that
should go in the blank? DNA → ________ → Proteins
A B
mRNA tRNA
C D
rRNA mtRNA
RNA LINKS
DNA TO
PROTEINS
Messenger RNA (mRNA):
Carries the DNA information to
ribosomes
RNA
POLYMERASE
Synthesized RNA
Uses DNA strand as template
Uses complementary
nucleotides
The central dogma
DNA RNA Protein
GENOTYPE
Sequence of bases in DNA
PHENOTYPE
Product of proteins
ALLELES
Differ based on DNA
sequence
Proteins produced by
different alleles of the same
gene frequently differ in their
amino acid sequence
DIFFERENCES IN DNA SEQUENCE MAY
CAUSE DIFFERENCES IN PHENOTYPE
MODIFICATIONS TO RNA’S OTHER FUNCTIONS
THE CENTRAL Most genes code for RNAs
that are not mRNA and not
DOGMA translated into proteins
RNA TO DNA
Some viruses contain reverse
transcriptase
Allows DNA synthesis from
RNA template
THE GENETIC CODE
How can mRNA code for th sequence of amino acids in a
protein?
Tell a neighbor!
HOW MANY BASES
IN A “W0RD”?
One base code = only four
amino acids possible
Two base code = 4x4 = 16
different amino acids
Three-base code = 4 x4 = 64
different amino acids
What change in the nature of the genetic code could be
possible if, instead of two sets of base pairs (A-T, G-C),
there were three sets of base pairs (A-T, G-C, X-Y)?
A B
The codons would still have to be The codons could be one base long.
three bases long.
C D
The extra base pair would make it This change would not have any
possible to have codons two bases in effect on the nature of the genetic
length rather than three. code.
Codon
TRIPLET
CODE
READING FRAME
NORMAL DELETION
“The fat cat ate the rat” “The atc ata tet her at”
ADDITION 3 LETTER DELETION
“The faa tca tat eth eta t” “The cat ate the rat”
1961- RNAs of only one ribonucleotide
NIRENBERG AND
MATTHAEI
5' UUUUUUUUU 3'
How to crack the
code? Add to cells
Results:
N-Phe-Phe-Phe-Phe-Phe-C
1961- Which polypeptide is made for
NIRENBERG AND
MATTHAEI
5' AAAAAAAAAAA 3'
How to crack the
A. N-Phe-Phe-Phe-Phe-C
code?
B. N-Lys-Lys-Lys-Lys-C
C. N-Gly-Gly-Gly-Gly-C
D. N-Pro-Pro-Pro-Pro-C
1961-
NIRENBERG AND Made chains of specific codons to
MATTHAEI determine amino acid
How to crack the AUG = start codon for methionine
code?
UGA, UAA, and UAG = stop codon
60 total codons
Redundant—All but two amino acids are encoded by
ANALYZING more than one codon
THE CODE
Unambiguous—One codon never codes for more than
one amino acid
Non-overlapping—Codons are read one at a time
Nearly universal—All codons specify the same amino
acids in all organisms (with a few minor exceptions)
Conservative—If several codons specify the same amino
acid, the first two bases are usually identical
VALUE OF THE Research uses
KNOWING THE
CODE 1 Predict amino acid sequence
from the DNA sequence
2 Determine mRNA and DNA
sequence that could code for
a sequnce of amino acids
The genetic code is essentially the same for all organisms.
From this, one can logically assume which of the following
statements to be true?
A B
Different organisms have different DNA was the first genetic material.
types of amino acids.
C D
A gene from an organism can The same codons in different
theoretically be expressed by any organisms translate into different
other organism. amino acids.
WHAT IS A MUTATION?
Any permanent change in DNA
Change in genotype
New alleles
POINT MUTATION
Missense mutations change an amino
acid in protein TYPES OF
Silent mutations do not change amino MUTATIONS
acid sequence due to redundancy in
the code
Frameshift mutations shift reading
frame, altering meaning of all
subsequent codons
Nonsense mutations change codon
that specifies an amino acid into stop
codon
POINT MUTATIONS
IMPACT ON
[Link] mutations increase FITNESS
fitness—ability to survive and
reproduce—of an organism
•Most point mutations are
2.Neutral mutations do not neutral or deleterious
affect an organism’s fitness
•Some mutations are not in
coding regions but can still
3.Deleterious mutations affect phenotype by affecting
decrease fitness of organism gene expression
An original section of DNA has the base sequence
AGCGTTACCGT. A mutation in this DNA strand results in the
base sequence AGGCGTTACCGT. What type of mutation
does this change represent?
A B
a point mutation a missense mutation
C D
A frameshift mutation A silent mutation
Which of the following DNA mutations is most likely to
damage the protein it specifies?
A B
a base-pair deletion a codon deletion
D
C
a substitution in the last base of a
an addition of three nucleotides
codon
FOUR TYPES OF CHROMOSOME STRUCTURAL MUTATIONS
CHROMOSOMAL MUTATIONS
Chromosome mutations may change chromosome number
—polyploidy or aneuploidy—or structure:
Inversion—segment of chromosome breaks off, flips
around, and rejoins
Translocation—section of chromosome breaks off and
becomes attached to another chromosome
Deletion—segment of a chromosome is lost
Duplication—segment of chromosome is present in
multiple copies
KARYOTYPES CAN REVEAL
CHROMOSOME-LEVEL MUTATIONS
Which type of mutation causes a premature termination of
protein synthesis?
A B
Frameshift Missense
C D
Silent Nonsense
Point mutations in DNA could alter codons. What would be
the effect of a point mutation that alters the DNA sequence
and alters the RNA sequence but results in the same amino
acid sequence?
A B
This would be a nonsense mutation This changes the DNA, so it must be
and result in an early stop codon. a deleterious mutation.
C D
This would be a silent mutation and This would be a missense mutation.
would have a neutral effect with
respect to fitness.
How is an understanding of the central dogma connected to
the relationship between genotype and phenotype?
A B
DNA converts RNA into protein, Genetic information can flow from
which is the phenotype. DNA to RNA or from RNA to DNA.
C D
Genetic information flows from DNA to A change in DNA has no effect on
RNA to proteins in the central dogma, the phenotype since RNA specifies
and a difference in genotype may result the amino acid as the information
in a difference in phenotype. carrier.
Homework
*Chapter 16 Pearson due November 22nd
*Exam 4 December