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GENETICS
COURSE:
MOLBIO210
(BS
1st SEMESTER)
Dr.
Madeeha
Afzal
Learning
objectives
What
is
the
structure
of
DNA,
and
in
what
form
is
the
genetic
information
stored?
What
features
of
the
structure
of
DNA
facilitate
the
accurate
transmission
of
genetic
information
from
generation
to
generation?
Recommended
reading
material
Principles of
GENETICS
S I X T H E D I T I O N
D. Peter Snustad
University of Minnesota
Michael J. Simmons
University of Minnesota
(1) O
A
phosphate O P O
group:
O
H C 2
3
4
C
9
N H purines; cytosine, thymine, and uracil are single-ring bases called pyrimidines. Both DNA
N and RNA, therefore, contain four different subunits, or nucleotides: two purine nucleo-
Adenine
tides and two pyrimidine nucleotides (! Figure 9.6). In polynucleotides such as DNA
O
and RNA, these subunits are joined together in long chains (! Figure 9.7). RNA usually
C
6
N exists as a single-stranded polymer that is composed of a long sequence of nucleotides.
H N1 5C
7
C H
8
DNA has one additionaland very importantlevel of organization: it is usually
9
a double-stranded molecule.
4
NH2 C2 3 C N H 5 end
N
NH2
Guanine
Purines DNA STRUCTURE: THE DOUBLE HELIX N1
6
5
N
7
8 Adenine
2 4 9
! FIGURE 9.5 Structural components of nucleic acids. The standard numbering systems One of the most exciting breakthroughs in the history of biology occurred 3
N
N
for the carbons in pentoses and the carbons and nitrogens in the ring structures of the in 1953 when James Watson and Francis Crick (! Figure 9.8) deduced the O
bases are shown in (2) and (3), respectively. Single-ring bases are called pyrimidines, and
double-ring-bases are purines. correct structure of DNA. Their double-helix model of the DNA molecule 5
O P OCH2 O
immediately suggested an elegant mechanism for the transmission of genetic O 4 1
information (see A Milestone in Genetics: The Double Helix on the Student O
exists as a single-stranded polymer that is composed of a long sequence of nucleotides.
DNA has one additionaland very importantlevel of organization: it is usually
Phosphodiester linkage,
a double-stranded molecule. 5 end
NH2
and
5
3
ends
2 4 9
One of the most exciting breakthroughs in the history of biology occurred 3
N
N
in 1953 when James Watson and Francis Crick (! Figure 9.8) deduced the O
correct structure of DNA. Their double-helix model of the DNA molecule 5
O P OCH2 O
immediately suggested an elegant mechanism for the transmission of genetic O 4 1
information (see A Milestone in Genetics: The Double Helix on the Student O
H 3 2
H
Companion site). Watson and Cricks double-helix structure was based on two 4 CH3
H HN 3
major kinds of evidence: 5
5
Thymine
In
polynucleotides
such
as
1. When D NA
aChargaff
nd
RNA,
andthese
subunits
colleagues analyzed are
2 6
1
Erwin the composition of O
O N
O
tion of thymine was always equal to the concentration of adenine and O
Structure of a polynucleotide chain.ofThe
the concentration tetranucleotide
cytosine was always equal to chain
the concentration of
4
3 2
1
NH2
H H
guanine (Table 9.1). Their results strongly suggested that thymine and
shown is a DNA chainadenine containing the sugar 2-deoxyribose.
as well as cytosine and guanine were present in DNA in some fixed H N3
4
5
Cytosine
RNA chains contain the sugar ribose.
interrelationship. Their data also showed that the total concentration of
O
O
2
N
1
6
pyrimidines (thymine plus cytosine) was always equal to the total concentration of
The nucleotides in polynucleotide purines (adenine pluschains are
guanine; see joined
Table 9.1).by O P OCH2 O
5
are deflected by the atoms of the molecules in specific patterns, called diffrac- H 3 2
H
polynucleotide showntion haspatterns,
a 5 (top) to 3 (bottom) chemical
which provide information about the organization of the com- H O
polarity because each ponents phosphodiester
of the molecules.linkage
These joins the 5 carbon
X-ray diffraction patterns can be recorded on
HN 1
6 N
X-ray-sensitive film just as patterns of light can be recorded with a camera and 5 7
Guanine
of 2-deoxyribose in one nucleotide
light-sensitive film.to the 3and
Watson carbon of 2-
Crick used X-ray diffraction data on DNA H2N
2
3
4 9
N
8
N
deoxyribose in the adjacent nucleotide. Therefore, the chain has
! FIGURE 9.7 Structure of a polynucleotide chain. The tetranucleotide chain shown is a
O
5
O P OCH2
a 5 carbon terminus DNA at the
chaintop and the
containing a 3sugar
carbon terminus
2!-deoxyribose. at the
RNA chains contain the sugar ribose.
O
O
The nucleotides in polynucleotide chains are joined by phosphodiester (C O P O C) 4 1
bottom. linkages. Note that the polynucleotide shown has a 5! (top) to 3! (bottom) chemical polarity H 3 2 H
because each phosphodiester linkage joins the 5! carbon of 2!-deoxyribose in one nucleo- H
3 OH
tide to the 3! carbon of 2!-deoxyribose in the adjacent nucleotide. Therefore, the chain has
a 5! carbon terminus at the top and a 3! carbon terminus at the bottom. 3 end
DNA
STRUCTURE:
THE
DOUBLE
HELIX
One
of
the
most
exciting
breakthroughs
in
the
history
of
biology
occurred
in
1953
when
James
Watson
and
Francis
Crick
deduced
the
correct
structure
of
DNA.
Their
double-helix
model
of
the
DNA
molecule
immediately
suggested
an
elegant
mechanism
for
the
transmission
of
genetic
information
Watson
and
Cricks
double-helix
structure
was
based
on
two
major
kinds
of
evidence:
1.
When
Erwin
Chargaff and
colleagues
analyzed
the
composition
of
DNA
from
many
different
organisms,
they
found
that
the
concentration
of
thymine
was
always
equal
to
the
concentration
of
adenine
and
the
concentration
of
cytosine
was
always
equal
to
the
concentration
of
guanine.
Their
results
strongly
suggested
that
thymine
and
adenine
as
well
as
cytosine
and
guanine
were
present
in
DNA
in
some
fixed
interrelationship.
Their
data
also
showed
that
the
total
concentration
of
pyrimidines
(thymine
plus
cytosine)
was
always
equal
to
the
total
concentration
of
purines
(adenine
plus
guanine)(known
as
Chargaff
rule)
2.
When
X
rays
are
focused
through
fibers
of
purified
molecules,
the
rays
are
deflected
by
the
atoms
of
the
molecules
in
specific
patterns,
called
diffraction
patterns,
which
provide
information
about
the
organization
of
the
com- ponents of
the
molecules.
These
X-ray
diffraction
patterns
can
be
recorded
on
X-ray-sensitive
film
just
as
patterns
of
light
can
be
recorded
with
a
camera
and
light-
sensitive
film.
Watson
and
Crick
used
X-ray
diffraction
data
on
DNA
structure
provided
by
Maurice
Wilkins,
Rosalind
Franklin,
and
their
coworkers.
These
data
indicated
that
DNA
was
a
highly
ordered,
two-stranded
structure
with
repeating
substructures
spaced
every
0.34
nanometer
along
the
axis
of
the
molecule.
On
the
basis
of
Chargaffs
chemical
data,
Wilkins
and
Franklins
X-ray
diffraction
data,
and
inferences
from
model
building,
Watson
and
Crick
proposed
that
DNA
exists
as
a
right- handed
double
helix
in
which
the
two
poly- nucleotide
chains
are
coiled
about
one
another
in
a
spiral.
Watson,
Crick,
and
Wilkins
shared
the
1962
Nobel
Prize
in
Physiology
or
Medicine
for
their
work
on
the
double-helix
model.
Unfortunately,
Franklin
died
prematurely
(age
37)
in
1958,
and
Nobel
Prizes
cannot
be
awarded
posthumously.
Each
of
the
two
polynucleotide
chains
in
a
double
helix
consists
of
a
sequence
of
nucleotides
linked
together
by
phosphodiester bonds,
joining
adjacent
deoxyribose
moieties.
The
two
polynucleotide
strands
are
held
together
in
their
helical
configuration
by
hydrogen
bonding
between
bases
in
opposing
strands;
the
resulting
base
pairs
are
stacked
between
the
two
chains
perpendicular
to
the
axis
of
the
molecule
like
the
steps
of
a
spiral
staircase.
The
base-pairing
is
specific:
adenine
is
always
paired
with
thymine,
and
guanine
is
always
paired
with
cytosine.
Thus,
all
base
pairs
consist
of
one
purine
and
one
pyrimidine.
202 Chapter 9 DNA and the Molecular Structure of Chromosomes
5 3 H
guanine
(G).
5 S
G C
S
5
P
The
base-pairing
in
DDiagram
! FIGURE 9.11NA,
ofTa
DNA
with
doubleA
helix,
P
S
A T
S
Cytosine
H
H
C
H
N
+
3 P O
Figure of the two strands hydrogen P 1 3 +
Guanine
hydrogen-bonding
potential
of
the
N 2 N
bonding between thymine (T) and adenine C G Sugar C H C N
S N1 6
C
(A) and between cytosine (C) and guanine S 5 7
P:
a
phosphate
group.
potential of the bases. S ! the sugar
2-deoxyribose; P ! a phosphate group. 3 5 H
nucleotides
S
the dark
indicate
bands
that the
at the top and bottom
bases are stacked
S T
S
AP