BUT1010 GENETICS

Lecture 1

INTRODUCTION TO GENETICS

Assoc. Prof. Dr. EMİNUR ELÇİ

INTRODUCTION TO GENETICS

Assoc. Prof. Dr. EMİNUR ELÇİ 2

CONTENT
• The nature of Biological Information

• How information becomes biological

information

• Genetics and Evolution

• Genetics has provided a powerful new

approach to biological research

• Genetics changes society

• Genetics and the future

Assoc. Prof. Dr. EMİNUR ELÇİ 3

What is Genetics?

• Genetics – the study of heredity

• Heredity – the passing of traits to offspring

(children, young)

• Traits – characteristics that parents can pass

to offspring (ex: eye color, hair color, shape of
eyebrows)

Assoc. Prof. Dr. EMİNUR ELÇİ 4

What is Genetics?

• Genetics is the study of all aspects of genes. Its

is a branch of biology concerned with the study
of genes, genetic variation, and heredity in
organisms.

• In turn, genes are defined as the fundamental

units of biological information. They can be
thought of as the words in the language of the
living process.

• Thus, the discovery of DNA led to biological

science into a realm called molecular genetics.
Assoc. Prof. Dr. EMİNUR ELÇİ 5
What traits do you share…

• with your parents?

• with your brothers

or sisters?

• with your cousins?

• with other people

in this class?
Assoc. Prof. Dr. EMİNUR ELÇİ 6
 History

• In the 1940s, several lines of research showed

that the element that carries biological
information within the chromosomes is the
molecule DNA.

• Eventually, the detailed molecular structure of

DNA was elucidated by James Watson and
Francis Crick in the 1950s.

• They inferred from this structure that DNA

contains information written in a genetic code.
DNA is a linear series of four molecular building
blocks called nucleotides.
Assoc. Prof. Dr. EMİNUR ELÇİ 7
History of Plant Genetics
• Mendel followed seven different traits in his
garden peas from generation to generation.

• The genetic inventory of Mendel’s garden varied

to the point that pairs of plants had all seven to
zero traits in common.

• In essence, Mendel could pick and choose plants

with precise traits with which to perform crosses.

• Using this genetic resource to perform crosses,

Gregor Mendel discovered his laws of
dominance, segregation, independent and
assortment. Assoc. Prof. Dr. EMİNUR ELÇİ 8
 Gregor Mendel (1822-1884)
• Known as the father of
genetics, grew up in the
early 1800s in Austria.

• Attended the University of

Vienna. During his time in
school, Mendel worked
various jobs to pay for his
tuition and living expenses.

• Eventually, Gregor Mendel

became a monk in the
monastery of St. Thomas in
Brno, a city in what is now
the Czech Republic.
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Assoc. Prof. Dr. EMİNUR ELÇİ
Mendel’s Experiment

Figure 1.2 Mendel’s

experiments with peas
evolved into Mendel’s laws of
heredity. Mendel crossbred
peas that produced (A) yellow
and (B) green peas. This
produced a generation in
which the peas were (C)
yellow. By breeding the C
generation peas together,
Mendel discovered that the
next generation had a mixture
of (D) yellow and green peas.

Assoc. Prof. Dr. EMİNUR ELÇİ 10

Some Pea Plant Traits

Assoc. Prof. Dr. EMİNUR ELÇİ 11

 Dominant & Recessive

• Dominant allele – an allele that can

mask another allele and always “shows
up” if present.

• Recessive allele – an allele that can be

masked by a dominant allele and only
“shows up” if both alleles for a trait are
recessive.

Assoc. Prof. Dr. EMİNUR ELÇİ 12

 Dominant & Recessive
• How would you write the symbols for a pea
plant that has one allele for purple flowers and
one allele for white flowers if purple is
dominant?

• What color flowers would that plant have?

Assoc. Prof. Dr. EMİNUR ELÇİ 13
 Dominant & Recessive
• How would you write the symbols for a pea
plant that has two alleles for purple
flowers?

• What color flowers would that plant have?

Assoc. Prof. Dr. EMİNUR ELÇİ 14

 Dominant & Recessive
• How would you write the symbols for a pea
plant that has two alleles for white flowers?

• What color flowers would that plant have?

Assoc. Prof. Dr. EMİNUR ELÇİ 15

 Phenotypes & Genotypes

• Phenotype – a physical trait of an

organism (what it looks like or how you
describe it)
• ex. purple flower

• Genotype – the genetic makeup of an

organism; it determines the phenotype
(or appearance) of the plant; represented
by letters
• ex. PP
Assoc. Prof. Dr. EMİNUR ELÇİ 16
Barbara McClintock’s Experiment

• Young plant geneticist from the United States,

named Barbara McClintock, was studying
chromosomes, microscopic structures made of
strands of genes from corn (Zea mays L.).

• McClintock was interested in studying the

structure and behavior of the chromosomes in
the nuclei of corn cells.
Assoc. Prof. Dr. EMİNUR ELÇİ 17
Barbara McClintock’s Experiment

• Using corn as a model plant, McClintock was the

first to discover transposons, which are genetic
elements that can move about an organism’s
genome, a complete set of chromosomes
containing all the genes.
Transposons also known as
"jumping genes", are DNA
sequences that move from
one location on the genome
to another.
• Transposons get their name from their ability to
undergo transposition, or movement, to new
locations in the Assoc.
genome.
Prof. Dr. EMİNUR ELÇİ 18
 Barbara McClintock’s Experiment

Figure 1.3
Transposons are
genetic elements
that can move
about an
organism’s
genome.
Transposons are not
found in every
organism, but they
are common in
corn.
This mosaic of
colored kernels in
Indian corn shows
transposons at
work.
Assoc. Prof. Dr. EMİNUR ELÇİ 19
The Nature of Biological Information

Assoc. Prof. Dr. EMİNUR ELÇİ 20

The Molecular Structure of DNA

• a double helix.

• each nucleotide has a

deoxyribose sugar, a
phosphate group, and
nitrogenous base.

Assoc. Prof. Dr. EMİNUR ELÇİ 21

DNA is organized into genes and
chromosomes

• An organism’s complete set of genetic

information, encoded in its DNA, is its genome.

• In eukaryotes (organisms whose cells have

nuclei), the bulk of the genome is found in the
nuclei, each of which has the same DNA content.

• The nuclear DNA is divided into physically

separate pieces, each a long double helix. An
individual chromosome contains just one of these
double helices in a highly coiled condition.

Assoc. Prof. Dr. EMİNUR ELÇİ 22

DNA is organized into genes and
chromosomes

Assoc. Prof. Dr. EMİNUR ELÇİ 23

DNA is organized into genes and
chromosomes

Assoc. Prof. Dr. EMİNUR ELÇİ 24

DNA is organized into genes and
chromosomes

• The essence of these pairs points to an

important feature of the nuclear genetic
material of most animals and plants. Namely,
these organisms are diploid, meaning that their
nuclei contain two complete copies of the
genome and so two identical chromosome sets.

• The number of chromosomes in the basic

genomic set is called the haploid number
(designated as n).

Assoc. Prof. Dr. EMİNUR ELÇİ 25

Chromosomal DNA is wrapped
around histones

Assoc. Prof. Dr. EMİNUR ELÇİ 26

Chromosomal DNA is wrapped
around histone

• Nuclear DNA is not the whole story. In addition

to nuclear DNA, a small specialized fraction of
eukaryotic genomes is found in mitochondria.

• Plants also have specialized DNA in their

chloroplasts together, these DNAs constitute the
extranuclear genome.

• Prokaryotes such as bacteria have no nuclei, so

the genome resides unbounded in the
cytoplasm.
Assoc. Prof. Dr. EMİNUR ELÇİ 27
Chromosomal Condensation by
further Coiling
•DNA is packaged very efficiently in
a chromosome. This packing is
achieved by coiling the DNA double
helix around molecular spools called
nucleosomes.
•Each nucleosome is composed of
eight proteins called histones.
• DNA and associated nucleosomes
are together called chromatin, the
stuff of chromosomes.
•One constricted region of a
chromosome called the centromere
acts as an attachment point to move
the chromosome during cell division.
• The tips of the chromosomes are
called telomeres.

Assoc. Prof. Dr. EMİNUR ELÇİ 28

Structural comparison of the genome
components of eukaryotes,
prokaryotes, and viruses

Assoc. Prof. Dr. EMİNUR ELÇİ 29

Structural comparison of the genome
components of eukaryotes,
prokaryotes, and viruses

Assoc. Prof. Dr. EMİNUR ELÇİ 30

Haploid and diploid number
• Many eukaryotes such as fungi are haploid; that
is, their nuclei contain just one chromosome set.
For example, the bread mold Neurospora is
haploid, and n7.

• In a diploid, the two members of a chromosome

pair are called homologous chromosomes or
sometimes just homologs.

• The DNA sequences of the members of a

homologous pair are virtually the same, even
though minor variation in the nucleotide
sequence is often present.

Assoc. Prof. Dr. EMİNUR ELÇİ 31

 How information becomes
biological form
• Proteins can be classified into three basic types:
structural, enzymatic, and regulatory.
• As their name suggests:
-Structural proteins contribute to outward physical
structure such as hair, nails, and muscle and also to
structural elements within the cell such as the
cytoskeleton.
-Enzymatic proteins catalyze the reactions going on
within cells, reactions that make all the main types
of molecules, including proteins themselves, nucleic
acids, carbohydrates, and fats.

Assoc. Prof. Dr. EMİNUR ELÇİ 32

How information becomes biological
form

• Regulatory proteins act to turn on or turn off gene

activity at the appropriate time and place.

• Hence, the main task of the living system is to

convert the information of the DNA of genes into
proteins.

• Molecular geneticists worked out the basic

mechanism of conversion soon after the discovery
of DNA.

Assoc. Prof. Dr. EMİNUR ELÇİ 33

 Transcription

• In the first stage of the protein-synthesis process,

the DNA of a gene is copied to make another
linear molecule called ribonucleic acid (RNA). The
copying process is called transcription.
• RNA Also composed of nucleotides, but the sugar
is ribose, and the base uracil replaces the base
thymine. Whereas DNA is a double-stranded helix,
RNA is single stranded.
• In most eukaryotes the initial transcript is
modified by excising the introns. The final form of
gene transcripts destined for protein synthesis is
called messenger RNA (mRNA).

Assoc. Prof. Dr. EMİNUR ELÇİ 34

Translation
• In the second stage of the protein-synthesis
process, each mRNA is translated into one
specific protein.

• Hence, the sequence DNA l RNA l protein has

become one of the operational mantras of
biology.

• It is one of the greatest insights into biology

ever deduced and has been the foundation for
much of biological research in the past half
century.
Assoc. Prof. Dr. EMİNUR ELÇİ 35
Translation
• Some RNA molecules are never translated into
protein but nevertheless play an important role in
themselves.
• The existence of this general class of functional
RNAs has been known for some time.
• Early examples were ribosomal RNA (rRNA),
part of ribosomes,
• and transfer RNAs (tRNAs), whose role is to
carry amino acids to the translational system.
• Recent research has revealed that there are many
more types of functional RNAs that are essential
for proper cell function.
Assoc. Prof. Dr. EMİNUR ELÇİ 36
 Structure of Proteins
• Every protein has a three-dimensional structure, but
essentially it is a long chain of amino acids called a
polypeptide.

• There are 20 main amino acids in cells, and it is the various

combinations of these 20 that give each protein its specific
shape and function. The chain of amino acids is folded or
coiled to give the right shape for function.

• Groups of three nucleotides, called codons, constitute the

three-letter “words” of the genetic coding language. Every
combination of three stands for one of the 20 specific amino
acids. The codons in mRNA are “read” consecutively starting
at one end by the translational machine, called the ribosome.

Assoc. Prof. Dr. EMİNUR ELÇİ 37

Flow of Information
in a Eucaryotic cell
Figure 1-13 Simplified view of gene
action in a eukaryotic cell.

The basic flow of genetic information

is from DNA to RNA to protein. Four
types of genes are shown in the
above figure. Gene 1 responds to
external regulatory signals and makes
a protein for export; gene
2 responds to internal signals and
makes a protein for use in the
cytoplasm; gene 3 makes a protein to
be transported into an
organelle; gene 4 is part of the
organelle DNA and makes a protein
for use inside its own organelle. The
promoter is the region.
where transcription is initiated, and
RNA polymerase is the transcriptional
enzyme. Most eukaryotic genes
contain introns,
regions (generally noncoding) that
are cut out in the preparation of
functional messenger RNA. Note that
many organelle genes
have introns and that an RNA-
synthesizing enzyme is needed for
organelle mRNA synthesis. These
details have been omitted
from the diagram or the organelle for
clarity. Assoc. Prof. Dr. EMİNUR ELÇİ 38
DNA REPLICATION

Figure 1-14 When new

cells are made, DNA
replication enables a
chromosomes to
become daughter
chromosomes and
pass into new cells.

Assoc. Prof. Dr. EMİNUR ELÇİ 39

How does life replicate itself?

• The structure of DNA lends itself to replication.

Although quite a complex process in its detail,
the idea, originally proposed by Watson and
Crick, is simple:

• The two strands of DNA separate and newly

synthesized nucleotides are deposited on the old
strands, each paired with its appropriate partner,
A with T and G with C.

Assoc. Prof. Dr. EMİNUR ELÇİ 40

 Change at DNA level
• Comparisons of DNA from different individuals show
that the differences are often caused by a minor
difference in a gene’s DNA sequence. A change to
the DNA sequence is called a mutation.
• The role of histones was once thought to be limited
to coiling the DNA for chromosome packing, but
now it appears they can also carry out a regulatory
function by restricting the access of regulatory
proteins to the genes, thereby silencing them.
• Certain environmentally induced chemical changes
in histones are self-perpetuating, and the altered
gene function they cause can also be handed down
to descendants. Such nongenetic changes are called
epigenetic.
Assoc. Prof. Dr. EMİNUR ELÇİ 41
Genetics and Evolution

• In the nineteenth century, Englishmen Charles

Darwin and Alfred Russel Wallace proposed an
explanation for the natural origin of species.

• The interpretation was that these similarities

between species are due to common ancestry
and that differences are due to the force of
natural selection in different habitats.

Assoc. Prof. Dr. EMİNUR ELÇİ 42

 Natural Selection
• Natural selection is the process whereby
individuals with a particular characteristic (such
as better vision) may reproduce better than
others in a given environment.

• Since these individuals will have more offspring,

the relative abundance of individuals with the
characteristic in question will increase. Similarity
due to shared ancestry from a common ancestor
is called homology. This all-embracing notion of
natural selection acting on variation became
widely accepted as the theory of evolution.

Assoc. Prof. Dr. EMİNUR ELÇİ 43

Constructing evolutionary lineage

• An evolutionary tree is a treelike branched diagram

that shows the descent of various modern and
fossil species through intermediate ancestral forms
over time. DNA sequence is a powerful tool for
constructing evolutionary trees.

• Differences in DNA sequences are quantified, and

species with similar sequences are placed closer
together in the tree of relatedness.

44
Assoc. Prof. Dr. EMİNUR ELÇİ
Constructing evolutionary lineage

• Such DNA trees can be used to test patterns of

evolutionary relationships previously proposed
exclusively on physical homology. They can also
reveal new and unexpected taxonomic
groupings.

• DNA homology is often striking; for example, the

DNA and amino acid sequence of the gene for
the electron-transport-protein cytochrome c is
homologous across the range of organisms on
the planet.

Assoc. Prof. Dr. EMİNUR ELÇİ 45

 Phylogenetic Tree of Life

Phylogenetic tree based on Woese et al. rRNA analysis. The vertical line at bottom represents
the last universal common ancestor (LUCA)
Assoc. Prof. Dr. EMİNUR ELÇİ 46
Forward Genetics

•The starting point of forward genetics is to treat

cells of the normal wild-type form of the organism
with some agent such as X rays or certain
chemicals that causes mutations.

•Overall forward genetics can be represented by

the sequence

•Mutation ---- gene discovery ---- DNA sequence

and function

Assoc. Prof. Dr. EMİNUR ELÇİ 47

Reverse Genetics

• The reverse genetics approach starts with a

gene sequence (probably learned from a
genome sequence) that has no known function
and then attempts to find that function.
• As in forward genetics, an important step is to
obtain mutations in that gene. Several
experimental approaches exist that can target
mutations to an individual gene. These
approaches are generally termed directed
mutagenesis.
• Gene (DNA sequence) ---- mutation ---- function

Assoc. Prof. Dr. EMİNUR ELÇİ 48

 Organisms used as a model in genetic
research
• Organisms such as Escherichia coli (a bacterium),
Saccharomyces cerevisiae (baker’s yeast), Drosophila
melanogaster (fruit fly), and mice have been used
repeatedly as the subjects of experiments that have
revealed much of what we know about how genetics works.

• These species, called model organisms, were chosen

because they are well suited to study of the biological
question under investigation. Part of the suitability of model
organisms is biological: that organism should have
properties that lend themselves particularly well to that
investigation.

Assoc. Prof. Dr. EMİNUR ELÇİ 49

Organisms used as a model in genetic
research

• A suitable model organism also has the benefit of

expediency: small organisms that are easy and cheap to
maintain and grow quickly are very convenient for
research. Because of evolutionary homology, what is
learned from a model organism such as the fruit fly can
often be applied to other species, even humans.

• Ascomycete fungi such as baker’s yeast

(Saccharomyces cerevisiae) and the mold
Neurospora crassa have their products of meiosis
enclosed in a small sac, which made them ideal subjects
for studies on meiosis and mating.

Assoc. Prof. Dr. EMİNUR ELÇİ 50

 Organisms used as a model in genetic
research

• Arabidopsis thaliana is a miniature flowering plant that can

be cultured in large numbers in the greenhouse or laboratory.
It has a small genome contained in only five chromosomes. It
has been an ideal model for exploring many aspects of plant
biology, such as the development of plant parts ranging from
roots to flowers in higher plants.
• The common fruit fly, Drosophila melanogaster, has only
four chromosomes in its genome. In the larval stage, these
chromosomes have a well-marked pattern of banding that
makes it possible to observe large-scale chromosomal
alterations, which can then be correlated with genetic
changes in morphology and biochemistry.
• Mus musculus, the house mouse, has been the model
organism for vertebrates, especially for humans.

Assoc. Prof. Dr. EMİNUR ELÇİ 51

 Model organisms have been crucial in
genetics revolution

Figure 1-24 (a)

Bacteriophages
attached to an
infected E.coli.
(b) Neurospora
growing on a
burnt tree after
a forest fire. (c)
Arabidopsis (d)
Caenorhabditis
elegans

52
Assoc. Prof. Dr. EMİNUR ELÇİ
Genetics and the Society

Figure 1-26 DNA fingerprints from paternity

determination investigations band in common
show from which parent a child inherited DNA

Assoc. Prof. Dr. EMİNUR ELÇİ 53

 Genetics and the Future

• Transgenic Approaches

• Genome editing

• Gene Therapy

• Crispr/Cas systems…

Assoc. Prof. Dr. EMİNUR ELÇİ 54

References

• Introduction to Genetic Analysis-10th Edition,

Anthony J.F Griffiths

• The Green World-Plant Genetics, Carl-Erik

Tornqvist

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