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03 DNA and Chromosomes

DNA is a polynucleotide composed of deoxynucleotides linked by phosphodiester bonds, containing four bases: adenine, thymine, guanine, and cytosine. The DNA double helix consists of two antiparallel strands held together by complementary base pairing, with a stable structure that allows it to store genetic information. Eukaryotic genomes are linear and contain both coding (exons) and non-coding (introns) regions, with a significant portion of the genome consisting of repetitive DNA and non-coding sequences.

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9 views

03 DNA and Chromosomes

DNA is a polynucleotide composed of deoxynucleotides linked by phosphodiester bonds, containing four bases: adenine, thymine, guanine, and cytosine. The DNA double helix consists of two antiparallel strands held together by complementary base pairing, with a stable structure that allows it to store genetic information. Eukaryotic genomes are linear and contain both coding (exons) and non-coding (introns) regions, with a significant portion of the genome consisting of repetitive DNA and non-coding sequences.

Uploaded by

elizabethareglo
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as PDF, TXT or read online on Scribd
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DNA and Chromosomes

Introduction to Molecular Biology

S. Guadaña, MD
Chemical Properties of DNA
The DNA

• Thee term nucleic acid arose because


DNA was rst isolated from cell nuclei.

• DNA is an acid because of its


phosphate groups, which at
physiological pH are dissociated to
liberate hydrogen ions.

• Its nucleotide subunits contain a pentose


sugar, 2-deoxy-d-ribose and therefore it
is called deoxyribonucleic acid
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Primary Structure of DNA

• DNA is a polynucleotide. A single


nucleotide has the structure:
Phosphate−sugar −base

• To specify a position in the


deoxyribose moiety, a prime (′) is
added to distinguish it from the
numbering of the base ring atoms. !
us the sugar carbon atoms are 1′, 2′,
3′, 4′, and 5′ (pronounced ‘ ve
prime’, etc.)
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The Nucleotide Bases

• The bases are adenine,


guanine, cytosine, and thymine
— abbreviated to A, G, C, and T.
A and G are purines, C and T,
pyrimidines.
Attachment of the Bases

• The bases are attached to deoxyribose


via a glycosidic link between carbon
atom 1 of the deoxyribose and
nitrogen atoms at positions 9 and 1,
respectively, of the purine and
pyrimidine rings.
Structure of the
Polynucleotide of the
DNA
DNA is more stable than RNA

• DNA is chemically more stable than RNA.


• The presence of the 2′-OH group of ribose
makes a ribopolynucleotide less stable than
the corresponding deoxyribose molecule.

• The di erence in stability is illustrated by the


fact that dilute NaOH will completely destroy
RNA at room temperature while DNA is
una ected. DNA is therefore a more stable
repository of genetic information than is RNA
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Thymine instead of Uracil for DNA

• Uracil, found in RNA, and thymine, found in DNA, have very similar structures
and can both pair with adenine.

• Cytosine bases in DNA undergo spontaneous deamination to uracil, which


would lead to genetic mutation if unrepaired.

• If uracil occurred normally, the repair process would replace uracils that were
part of the normal DNA sequence as well as those generated from cytosine.

• The occurrence in DNA of thymine, which has the same structure as uracil but
with an additional methyl group, disposes of this problem as the repair
process recognizes and replaces uracil but not thymine.
The DNA Double Helix
Complimentary Binding

• Complementarity refers to the bases. A/T and G/C in DNA chains are
complementary in structure so that, when they are opposite one another in
the two chains, hydrogen bonds form between them, two between A and T
and three between G and C, attaching the double helices together.

• Because of base complementarity, in any double-stranded DNA molecule the


amount of G equals that of C, and the amount of A equals that of T.

• The human genome is about 60% [A + T], and 40% [G + C]


• The helices are right-handed—as you move along a strand or a groove you
continually turn clockwise; alternatively, imagine a right-handed person
driving in a screw.
DNA chains are antiparallel

• By antiparallel we mean that the two chains


of a double helix have opposite polarity—
they run in opposite directions.

• In DNA we are talking about the direction in


which a sequence of nucleotides is read.

• Any single linear strand of DNA has


(obviously) two ends. One has a 5′-OH group
on the sugar nucleotide On the other end
has a 3′-OH group
The Chromosome
The Chromosomes
• In most stages of development of sexually reproducing eukaryotes the cells
are diploid (gametes excepted), which means that they have two sets of
chromosomes, one derived from each parent.

• Humans, for example, have 46 chromosomes consisting of 22 homologous


pairs known as autosomes, and two sex chromosomes, X–Y in the male and
X–X in the female.

• The base sequences of the two homologous chromosomes are therefore


almost the same, but the two copies of a gene may di er slightly in base
sequence.

• Di erent forms of the same gene are known as alleles, and the inheritance of
di erent alleles contributes to genetic variation.
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Mitochondrial Chromosomes

• Besides the nuclear chromosomes, eukaryotic cells contain extra


genomes in mitochondria.

• Most mitochondrial proteins today are coded for by genes in the nucleus,
synthesized in the cytosol, and transported into the organelle, but a small
proportion are still made in the organelle.

• The mitochondrial DNA is double stranded and circular with, in humans,


16,569 base pairs.
Introns and Exons

• genes are arranged close together on the DNA with short ‘spacer segments’
between them. The coding region that specifes the amino acid sequence of a
protein is continuous.

• The coding region is interrupted by segments of DNA that do not code for
amino acid sequences.

• The interrupting sequences are called introns, while the coding sections are
called exons
Electrophoresis
Summary
• DNA is a polynucleotide consisting of strands of deoxynucleotides linked by 5′
→ 3′ phosphodiester links between the sugar residues.

• DNA contains four bases, A, T, G, and C, but no U. T is the same as U except that
it has a methyl group.

• Although RNA probably preceded DNA as the genetic material, DNA is chemically
more stable. This is probably why present day genomes are DNA, not RNA (apart
from some viral genomes).

• The DNA double helix consists of two antiparallel strands held together by
complementary base pairing by hydrogen bonding between A and T, and G and C.

• High temperatures cause strand separation due to hydrogen bond breakage.


Reversal on cooling is known as hybridization or annealing. DNA hybridization is
highly speci c and is at the centre of DNA technologie.
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Summary

• The bases in a double helix point to the inside of the molecule, and the
phosphate–sugar backbone to the outside, with the edges of the bases
visible in the two grooves of the double helix. The bases themselves have !at
hydrophobic faces and are stacked on one another.

• The dimensions of the DNA double helix (B form) are: approximately 3.4 nm
and 10–10.5 base pairs per 360° turn, 2 nm diameter.

• Prokaryotic genomes are circular double-stranded DNA, while eukaryotic


genomes consist of linear dou- ble-stranded chromosomes that are contained
within a nucleus. Most eukaryotic cells are diploid and con- tain homologous
pairs of chromosomes.
• DNA stores information on the amino acid sequences of proteins, in the form of
base sequences of genes. Eukaryotic genes are split into exons and introns.

• Only about 1.6% of the human genome codes for protein sequences, and genes
in total occupy only 25% of the genome, most of this being due to non- coding
introns.

• In addition to protein-coding genes, the human genome contains genes


coding for ribosomal and transfer RNAs, and regulatory sequences.

• Half of the human genome consists of repetitive DNA, much of it of no


known function. Some of the DNA previously regarded as ‘junk’ encodes
noncoding microRNA transcripts that play essential roles in complex organisms.

• The amount of DNA in its genome is not proportional to the complexity of an


organism. Amphibia have larger genomes than humans.

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