DNA and Genes

Things to find out:

• What is DNA?
• The Genetic Code
• The Human Genome
 Diversity of Life
• All biological
systems are
composed of the
same types of
molecules

• Similar
organization
principles are used
at the cellular level
 The Cell
• Basic component of
life

• Two main categories,

prokarytic and
eukaryotic cells

• Differences in the
nucleus
• Prokaryotes: no
defined nucleus and
a simplified internal
structure

• Eukaryotes:
membrane limited
nucleus and
complicated internal
structure

• Three branches of
life
• Genetic material is located in nucleus
• The genetic information is stored in
Deoxyribonucleic acid, DNA
• DNA contains the information needed to build
an individual
 What is DNA needed for?

• Genetic information is
transferred from DNA and
converted to protein

•RNA molecules work as

messengers

•Proteins are the biological

workers
•Information of the DNA is copied to a RNA
molecule in transcription

•RNA directs the

protein synthesis in a
translation

•Protein’s 3D structure
determines it’s function

•Information transfer
only in one direction
 DNA (Deoxyribo Nucleic Acid)

•a polymer of nucleotide monomers

•2’-deoxyribose sugar Base part

•Four bases:
•Adenine, A
•Guanine, G
•Thymine, T
•Cytosine, C

Sugar part
 Four bases...
Purine bases Pyrimidine bases
• Adenine and • Thymine and
guanine cytosine
• Two carbon rings • A single carbon
ring
DNA chains
• Nucleotides are
joined with
phosphodiesteri bond

• Sequence of bases
vary → genetic
information

• Extremely long
chains!
DNA Molecules
• Two polynucleotide
chains are joined

• Double helix,
twisted in right
handed way

• Full circle in every

10 bases
•”ladder-structure”
–Bases = steps
–Sugars and phosphates =
supporting pilars

•Two nucleotide chains

run in opposite directions

→chemical direction
(5´-3´)
 Complementary Pairing
• Bases pair with other bases

• Space between the chains is limited →

Purines with two carbon rings pair only with
single ring pyrimidines
A+T
G+C

• Complementary pairing is vital for the use and

storage of the genetic information!

•Interaction is stabilized by
hydrogen bonds
 The Genetic Code
• Describes how nucleotide sequence is
converted to protein sequence

• Unit of three nucleotides = a codon

• A codon codes for a specific amino

acid (structural component of protein)
• The four bases can
form 64 different
codons

• 20 amino acids are

found from the
nature

• Regulatory codons
 •Right reading frame is obligatory!
•Part of the sequence from psoriasis associated gene HCR

atgtttccac cttcaggttc cactgggctg attcccccct cccactttca agctcggccc

ctttcaactc tgccaagaat ggctcccacc tggctctcag acattcccct ggtccaaccc

• Three different reading frames can be used, but only one is the right one

•Translate tools are found from the internet

Frame 1 The right one
Met F P P S G S T G L I P P S H F Q A R P L S T L P R Met A P T W L S D I
PLVQ

Frame 2
C F H L Q V P L G Stop F P P P T F K L G P F Q L C Q E W L P P G S Q T F
PWS N

Frame 1
G L D Q G N V Stop E P G G S H S W Q S Stop K G P S L K V G G G N Q
P S G T Stop R W K H
Chromosome

Condenced scaffold

fibers connected to
chromosome scaffold

chromatin fibers

chromatin

DNA
 Genes

• A gene: DNA sequence that is needed to encode

amino acid sequence of a protein

• Composed of exons, introns and different control

elements

• Exon – protein coding sequence

• Intron – intervening sequence
• Genes vary a lot in size:
Humans: average 3000bp
largest 2.4 million bp

•Genes are separated by sequences with

unknown function

•Only one strand of the DNA carries

biological information → template strand

•Potential to store biological information is

enormous
That’s all for this time!
The Human Genome and Inheritance
The Human genome...

The different types of sequences that make up

the total DNA of a human cell

• 3 billion base pairs

• about 22 000 genes

• Only 2 % of the DNA encode proteins

• Genes include exons and introns

• Beside coding areas also additional secuences are found

• 50 % repeated sequences (”junk DNA”)

• 23 chromosome pairs → 46 chromosomes

• 44 autosomes, 2 sex chromosomes

• X and Y –chromosomes

• XX → female

• XY → Male
Chromosomes carrying
the same genes are
called homologous
 Mutations
• Alterations in DNA sequence

• Some are part of normal DNA variation

• Caused by chemical and physiological agents

and errors in DNA replication

• Cells can repaire some mistakes

• If not repaired changes in DNA sequence

are made permanent by DNA replication
Point mutations:
Single base mutations:

1. Missense mutation: leads to

an amino acid change

2. Silent mutation: does not

change the amino acid

3. Nonsense mutation: causes

premature stop-codon
• Frameshift mutations:
insertion/deletion
dublication
translocation

→Altered reading frame

→ Severe impacts on protein structure
Passing on the genetic information:

• Information passed on in the sexual reproduction

• Needed for new characteristics to develop
• Offspring recieve genes by inheriting chromosomes
 Two important terms...

Phenotype: The outlook of an organism

Genotype: The genetic information written in DNA

Phenotypes

Genotype Genotype

GCCAAGAATGGCTCCCACC
ATGTTTCCACCTTCAGGTTCC
T
ACTGGGCTGATTCCCCCCTC
GGCTCTCAGACATTCCCCT
C
GGTCCAACCCCCAGGCCAT
CACTTTCAAGCTCGGCCCCT
CAAGATGTCTCAGAGAGGC
T
GGCTAGACACCCAGAGACC
TCAACTCAGAGAGGCGGCTA
TCAAGTGACCATGTGGGAA
GACACCCAGAGACCTCAAGT
CGGGATGTTTCCAGTGACA
GACCATGTGGGAACGGGATG
GGCA
All somatic cells
• 23 chromosome pairs
Fertilization:
(46 chromosomes)
• Diploid cells, 2n +
n n
Sperm cell
• 23 chromosomes
• Haploid cell, n

Egg cell
• 23 chromosomes Fertilized egg
• Haploid cell, n • 2n
• 46 chromosomes
A chromosome pare:

• A locus
• An allele
Mitosis

• Division of somatic cells

• Products two daughter cells from

one parent cell

• The number of chromosomes

does not change

• DNA duplicates before entering

the mitosis

• Takes 1-2 hours

Meiosis

• Only in gamete formation

• One diploidic parent cell produces

four haploid gametosytes

• Mature gametocytes have 23

chromosomes (n)
Crossing over:

• Chromatids change parts

between homologous chromatids
during the meiosis

• Causes redistribution of heridary

material between the homologous
chromosomes

→ number of genes doesn’t

change
→ new allele combinations
are formed
 Inherited diseases
• DNA mutations are significant in development of diseases

• Inherited diseases are caused by mutations passed from

a parent to a offspring

• Monogenic diseases: disease is caused by one mutation in

one gene

• Multifactiorial diseases: disease is caused by interaction

of different mutations and environmental factors

• Mendelian inheritance: Presence or absence of the

phenotype depends on the genotype at a single locus
• Dominant character: only one allele needed to cause the
phenotype (heterozygous)

• Recessive character: both allels needed to cause the

phenotype (homozygous)
Autosomal dominant inheritance:

Aa aa

Aa

aa
Aa
Autosomal recessive inheritance:

aa Aa

aa Aa
Aa

aa
aa

Aa AA
X-chromosome linked recessive inheritance:
X-chromosome linked dominant inheritance: