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Sylvia S. Mader

Immagini e
concetti
della biologia
2a ed.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019
 B4 - Molecular
biology

Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 DNA and inheritance
Fredrick Griffith’s experiments with Streptococcus
pneumoniae (1931) demonstrated that a “transforming
substance” was used as replicator.

Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 DNA and inheritance
Alfred Hershey and Martha Chase (1952) used the T2
bacteriophage and Escherichia coli for their experiments.

Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 DNA and inheritance
Hershey and Chase showed that DNA, not proteins, enters
bacterial cells and directs the phage reproduction.

Hershey and Chase’s first experiment - virus DNA is labeled.

Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 DNA and inheritance
Hershey and Chase showed that DNA, not proteins, enters
bacterial cells and directs the phage reproduction.

Hershey and Chase’s second experiment - virus capsid is labeled.

Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Nucleic Acids
DNA is a polynucleotides (polymers of nucleotides). Each
nucleotide is composed of three parts:

• a C5 sugar called deoxyribose;

• a phosphate group;
• a nitrogen-containing base.

Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Nucleic Acids
There are four possible nitrogen bases. Adenine (A) and
guanine (G) have a double-ring structure and belong to a
group called purines. Thymine (T) and cytosine (C) have a
single-ring structure and are called pyrimidines.

Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Nucleic Acids
RNA (ribonucleic acid) contains a C5 sugar called ribose
and the bases A,C,G. Uracil (U) replaces T.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 DNA
DNA is a functional genetic material as it:

•varies between species and individuals

•can store information
•remains constant within a species
•replicates
•undergoes mutations

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 DNA structure
DNA is composed by a double strand of nucleotides where
C always pairs with G and T pairs with A.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 DNA structure
James Watson and Francis Crick constructed the first
model of DNA using Rosalind Franklin and Maurice
Wilkins’s X-ray diffraction data.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 DNA structure
In Watson and Crick double helix model weak
hydrogen bonds between the bases hold the two
chains to one another.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 DNA is suitable for replication
DNA duplication (or replication) is
semiconservative as each new
filament contains an old strand and
a new strand.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 DNA is suitable for replication
DNA duplication involves three steps:

1.Unrolling and unwinding;

2.Complementary base paring;

3.Joining.

DNA polymerase is an enzyme that assists steps 2 and 3.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 DNA is suitable for replication
In the C5 deoxyribose, carbons are numbered 1', 2', 3', 4',
and 5' to distinguish from the atoms of the nitrogen base
ring. The 5' carbon binds to the P-group.

The P-group of a nucleotide is bonded to

the 3' C of the adjacent nucleotide.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 DNA polymerase

DNA polymerase adds

nucleotides to the 3' end of
the DNA and needs a primer
to start the replication of a
strand.

Telomeres are special non-

codifying repetitive nucleotide
sequences.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 DNA replication
The second strand of DNA is duplicated in opposite
direction of the replication fork.
Replication is continuous for the leading strand but
discontinuous for the lagging strand.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Genes and protein synthesis
Genes are expressed by proteins.
The “one gene one protein” hypothesis is based on the
observation that a defective gene causes a defective
enzyme.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Protein synthesis
The making of a protein requires two steps.

1.Transcription: DNA is transcribed into mRNA.

2.Translation: the transcript mRNA directs the amino acid
sequence.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Genetic code
The genetic code is the set of
information encoded in DNA
that is translated into amino
acid sequences.

A three-nucleotides codon (i.e.

AUC) in a sequence specifies
a single amino acid.

With few exceptions, the

genetic code is universal.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Transcription
During transcription,
complementary base pairing
occurs, RNA polymerase joins
bases and the coded
information passes from the
gene to the mRNA.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Transcription
In eukaryotes, exon is a DNA sequence that will be
expressed while intron is DNA that has regulatory function
but it will not be expressed.

Both introns and exons are

transcript to primary mRNA.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Translation
Amino acids are transferred by
tRNA (transfer) to the
cytoplasm where mRNA is
translated into proteins.

tRNA’s anticodon base-pairs

with mRNA’s codon.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Ribosomes
Translation occurs at ribosomes in the cytoplasm.
A ribosome has a binding site for mRNA and three binding
sites for tRNA.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Polypeptide synthesis
Polypeptide synthesis occurs as a ribosome moves down
mRNA. A polyribosome is a complex of ribosomes
translating the same mRNA.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Polypeptide synthesis: I step
Initiation begins the process of polypeptide synthesis. The
starting codon is UAG.
The ribosome tRNA binding sites are: E (exit) site, P
(peptide) site and A (amino acid) site.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Polypeptide synthesis: II step
During elongation, a tRNA at the P site passes a peptide to
an amino acid-carrying tRNA at the A site.
Then translocation occurs:
elongation
the ribosome moves forward
and the peptide bearing tRNA
is at the P site.

The used tRNA exits from the

E site.

translocation 29

Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Gene expression
The processes of elongation and translocation occur over
and over again. At termination, the ribosome reaches a
stop codon and the polypeptide is released.

Transcription and translation make the gene expression

possible. Resume: participants in gene expression

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Mutations
A mutation is a permanent change in the genomic
sequence. It affects the gene expression.

•Germ line mutations occur in gametes and can be passed

on to offsprings.
•Somatic mutations involve body cells and are not
transmitted to descendants.

Insertions add nucleotides into the DNA, deletions remove

one or more nucleotides from the DNA.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Point mutations
Point mutations affect only one or a few nucleotides.
Depending on the DNA sequence, those mutations can be
harmful or without consequence.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Frameshift mutations
Frameshift mutations involve insertions or deletions of
several nucleotides.

Frameshift mutations can lead to the expression of a new

non-functional protein and cause genetic disorders as the
cystic fibrosis.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Transposons
Discovered by Barbara McClintock in 1981.

A transposon (or “jumping gene”) is a sequence of DNA

that can change position within the chromosome.

Transposition can block transcription and be a source

of translocation, deletions, inversion or duplication.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Genetic mutations and cancer
Apoptosis (programmed cell death) is important in cancer
control.
•Proto-oncogenes, promote the cell cycle and inhibit
apoptosis.
•Tumor suppressor genes, protect the cell from the
development of the cancer.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Genetic mutations and cancer
Oncogenes and mutated tumor suppressor genes cause
excess cyclin which stimulates the cell cycle and makes
p53 unavailable so that apoptosis does not occur.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Genetic mutations and cancer
Products of faulty genes interfere with signal transduction
when cancer develops.
A stimulatory signal transduction pathway turns on a
proto-oncogene whose products stimulates the cell cycle.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Genetic mutations and cancer
When cancer occurs the products of an oncogene leads to
overstimulation of the pathway and the cell cycle
excellerates.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Genetic mutations and cancer
An inhibitory signal transduction pathway turns on a tumor
suppressor gene whose products inhibits the cell cycle.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Genetic mutations and cancer
When cancer occurs, the product of a mutated tumor
suppressor gene fails to turn on the pathway and fails to
stop the cell cycle.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Cancer development
Carcinogenesis is the development of a malignant tumor
due to repeated mutations.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Cancer development
Angiogenesis (formation of new blood vessels) provides
nutrients to a growing tumor.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Cancer development
Motile cells invade lymphatic and blood vessels, metastasis
occur when new tumors form far from the original site.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019

 Cancer therapy
Cancer diagnosis includes a complete check of patient
health, imagine diagnostics, blood and urine analysis,
endoscopy.

Surgery of a cancer cell mass is useful only for solid

tumors.

Chemotherapy is a cancer treatment that uses drugs to

destroy cancer cells.

Radiotherapy uses high energy rays to destroy cancer

cells.

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Sylvia S. Mader, Concepts of Biology © Zanichelli editore, 2019