Unit 5
[Link] and Evolution
Genetics; is a field of biology that studies;
- About heredity.
- How traits passed from parents to offspring.
Heredity makes offspring look like their parents.
The basic components of genetics are DNA, RNA, genes and
chromosomes.
A. Gene; is section of a DNA molecule that tells a cell to perform one
specific task.
Genes code traits that pass from parent to offspring
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DNA replicated and passed from parent to their offspring.
B. RNA; stands for ribose nucleic acid and is single stranded.
RNA can hold genetic information like DNA.
• C. DNA; stands for deoxyribonucleic acid. DNA is double
stranded.
DNA molecules hold all the genetic information of an
organisms.
D. Chromosome; when the DNA coiled by histone protein.
Chromosome = DNA +Histone protein (protect DNA)
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5.1 Basic Principles of Mendelian Genetics and
Patterns of Inheritance
Mendelian inheritance proposed by Gregor Mendel in 1865
and 1866.
Mendel developed three principles of inheritance By
experimenting with pea plant breeding. Those are;
1. Principle of Dominance .
When one trait masks or suppressed another trait in heterozygous
individual.
2. Principle of segregation.
The inherited factors (now called alleles) that determine
traits are separated before crossing.
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3. Principle of independent assortment.
Genes located on different chromosomes will be inherited
independently of each other.
They caries traits independently (not mixed to each other).
Those principles were initially controversial and even rejected by
some scholars.
Then Mendel's theories integrated with chromosome theory
of inheritance by Thomas Hunt Morgan in 1915,
This integration became the core of classical genetics.
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5.2 Molecular Genetics and Inheritance
5.2.1. DNA, Chromosomes and Cell Division
DNA and Chromosome
• DNA is the molecule that holds the genetic information.
• DNA comes in the form of a long, linear molecule referred
to as a strand
The strands of DNA are anti-parallel to each other.
• Each strand of DNA bonded to a second strand of DNA to
form a DNA double helix
• Eukaryotes DNA founds in the nucleus as a double helix.
• DNA molecule replicate during cell division
• DNA contains genes 5
C O N T I.
• DNA-is made up two strands of polynucleotides.
• The basic unit of DNA strand is a nucleotide (monomers of
DNA).
• Nucleotide contains, phosphates, a pentose sugar (deoxyribose in
DNA and ribose sugar in RNA) and nitrogen base.
• Based on nitrogen base type, there are four types of nucleotides:-
Adenine (A) – containing nucleotide
Guanine (G) – containing nucleotide
Cytosine (C) - containing nucleotide
Thymine (T) – containing nucleotide (in DNA)
Uracil (U) nucleotide in RNA).
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C O N T I.
• The nucleotides in one strand are paired with the nucleotides in the
other strand according to the base pairing- rule.
Adenine – Thymine(uracil in RNA)
Cytosine – Guanine
DNA is a very stable molecule at normal temperature.
The stability of the DNA molecule is important in ensuring the genetic
code does not become corrupted.
The hydrogen bonds hold the two strands together in position through
the bases.
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Phosphodiester
bond
Fig:5.1. Structure of DNA.
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• Chromosome is a thread- like structure.
• Made from DNA and histone (a set of globular ) proteins.
• DNA stores genetic information whereas histone is the core of a
chromosome.
• Individual chromosomes are not easily distinguished unless condensed.
• On condensed chromosome, genes are inactive while uncondensed or
loose organization genes to be active.
• When a cell prepares for cell division, the chromatin duplicated
themselves and become condensed.
• This form of chromosome is visible under light microscope.
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• Chromosome has two essential elements:
• Centromere
• Pair of telomeres
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DNA replication and cell division
• The ability of DNA to make copy of itself (DNA replication) is
the basis for reproduction and inheritance.
• DNA molecule replicate, in semi-conservative manner,
means that;
• Each new DNA molecule contains one strand from the
original (old) DNA and one new DNA strand molecules.
• Both new DNA molecules formed are identical to each other
and to the original molecule.
• Several Enzymes are involved in this process and the main
stages are:
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1. DNA-helicase enzyme break H-bonds to unwind (open)the helix.
2. DNA-polymerase follows the helicase enzyme along each single-
stranded region for the synthesis of a new strand. DNA polymerase
assembles nucleotides into new strands alongside each of the template
strands. Other like DNA-primase and DNA-legase
Each new strands is complementary to its template strand because of
base- pairing rule, A-T, C-G. Two-identical DNA molecules resulted.
Each contains one strand from the original (old) and one newly
synthesized.
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Old strand
Fig: 5.2. DNA semi conservative type of replication.
New synthesized
strand
Cell division
• Cell division is the process, when a parent cell divides into
two or more daughter cells.
• In eukaryotes, there are two distinct types of cell division:
1. Mitosis (asexual); produce two genetically identical
daughter cell to the parent. used for growth, asexual
reproduction, maintain damaged body(repair) and to replace worn-
out cells.
2. Meiosis (sexual); produce four haploid non-identical gametes
(daughter cell). used for sexual reproduction
• Prokaryotes (bacteria) undergo a vegetative (asexual
reproduction) cell division known as binary fission.
• Binary fission segregated cells into two equal daughter cells.
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C O N T I . .
• Before division, genomic information that stored in
chromosomes must be replicated.
• The duplicated genome must be separated cleanly between
cells.
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5.3 Protein synthesis
• Code for protein synthesis is specified by DNA and has to be
sent to ribosome.
• DNA remains in nucleus to assemble amino acids in the correct
sequence to form protein.
• Events during protein synthesis;
Transcription –
i. DNA code for protein is rewritten in a molecule of messenger RNA
(mRNA). ii. mRNA travels from nucleus to cytoplasm
iii. Free amino acids are transported from cytoplasm to ribosome by
transfer RNA (tRNA) molecules. iv. tRNA read mRNA code and
assembles amino acids by rRNA into a protein by a process = translation.
Translation – is process in which mRNA code is converte into a
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sequence of amino acids
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Genetic code
• Each amino acid in the protein is coded by a triplet /sequence of three
bases/.
• Hence, a gene is a sequence of base triplets in the DNA molecule.
[Link] are 4 bases, therefore there are possible triplet
codes /amino acids.
Only 20 amino acids used to make all different proteins.
2. Only one strands of a DNA molecule carries the code for proteins (It
is called sense strand or coding stand)
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The other strand is non-coding or antisense strand.
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3. Most amino acids have more than one code.
only methionine and tryptophan have one code.
Arginine has six codes
4. Three triplets (TAA, TAG, and TGA) do not code for amino
acids and they are called stop codons.
Stop codes signify the end of the coding sequence.
5. Degenerate code – the DNA code is non- overlapping codes.
i.e., each triplet is distinct from all other triplets.
6. The genetic code is also a universal code
i.e. the triplet code TAT in the DNA code for amino acid
tyrosine in human, redwood tree, bacterium or in any 18
organism E.g. ACC – threonine, GGG-glycine.
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Fig:5.6. Genetic code 19
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• All tRNA molecules have same basic structure called
anticodon. The anticodon is a triplet on tRNA.
• tRNA has attachment site for the amino acid specified by
the mRNA codon.
• Within ribosome, there are three sites called A, P and E
sites.
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Events During Translation of Proteins
• First three codons of the mRNA enter tRNA molecules and ribosome
(with amino acid attached).
• Complementary anticodons to the 1st three codons of the mRNA bind
to those codons.
• A peptide bond forms between amino acid carried by two tRNA
molecules and dipeptide is transfmoves along the mRNA by one codon
erred to the tRNA in the A-site.
• The Ribosome bringing the 3rd codon into the ribosome.
• At the same time the free tRNA exits the ribosome from the E-site.
• tRNA with the dipeptide moves into the P-site.
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• A tRNA with complementary anticodon binds with the third
codon and brings its amino acid into position next to
the 2nd.
• A peptide bond is formed between 2nd and 3rd amino acid.
The whole process is repeated until a ''stop'' codon is in
position and translation is stopped.
UAA, UAG, and UGA, which are known as stop codons.
translation of the mRNA code into a protein molecule
requires energy.
This energy comes from hydrolysis of GTP /guanoisne
triphosphate/ not ATP
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Note; Watch translation animation from YOU TUBE.
Protein Synthesis in Prokaryotic Cells
• Protein synthesis in prokaryotic is similar to eukaryotes but
there are some differences like:
Prokaryotic cell have no nucleus.
Prokaryotic mRNA does not need post-transcriptional
process.
because it only contains exons (coding genes) not introns
(non-coding genes).
Transcription and translation are coupled.
mRNA translated at one end of ribosome while it start
transcribing from DNA at other end.
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Transamination: - is a process of removing amino group
from amino acid and transferred to a keto acid.
then it becomes a different amino acid/keto acid.
E.g. pyruvic acid (keto acid) → alanine (amino acid).
Note. Not all amino acids are produced by transamination
only those we obtain from our food, this are called
essential amino acid
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Control of Gene Expression
Genes are switched on by "transcription factors“.
transcription factors are proteins that bind to a regulatory
sequence of DNA near to the gene they influence.
They operate in the following way:
1. The transcription factors bind to a promoter sequence of
DNA near the gene to be activated.
RNA polymerase binds to the DNA/ transcription fact or
complex.
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The RNA polymerase transcribes the antisense strand of the
DNA and the gene is now being expressed.
2. Like transcription factors, there are factors to repress (switched
off) gene action.
Short interfering RNA (siRNA)
are unusual-very short
only 21-23 nucleotides
double stranded
They don‘t act on the gene itself, but interfere/silence the
mRNA once it has been transcribed from DNA.
interfere in post transcription
If mRNA is prevented from translating its Codons into amino
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acid then the protein that code gene, cannot be built (silenced).
Mutatio
ns nucleotide sequence of organism
• Mutation; is the alteration
genome, virus, or extra chromosomal DNA.
• Mutation could occur spontaneously (accidentally) during
duplication.
• Mutation are rare events.
• Most mutations detected & repaired 95% of our DNA is on
non-coding.
• Some others affect coding gens.
Rate of mutations can be increased by:-
• Carcinogenic - chemical in tobacco smoke.
• High energy radiation- ultraviolet radiation, x- ray, gamma
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• There are two types of mutation:
1. Point mutations- changes a single nitrogen base.
• There are several types of point mutations; some of these;
Substitution- one base is replaced by other base.
Addition-a base is missed out during DNA
replication.
Deletions – an extra base is added.
2. Chromosomal Mutations- where part /segment/ of a
chromosome sequence of DNA is disturbed/
missed/added.
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• Types of chromosomal mutations:
Euploidy/polyploidy/-where an organism/ cell has extra complete set
of chromosomes/an exact multiple of a
complete set. E.g Triploid ,Tetraploid
Aneuploidy – where an organism/ lost/ added one or more
chromosomes to normal set of chromosome
2 n+1 = trisomy/47 chromosomes, e.g. Down‘s syndrome
2n-1 = monosomics – turner syndrome/45chr.
2n+1+1 = double trisomy.
2n-2 – nullisomic, organisms that loss one homologous
chromosome.
Cri-du-chat syndrome = mental retardation – caused by part of
deletion of chromosome number 5 of man.
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• Consequence of gene-mutations
Mutations on body cell cannot be inherited but may result the
following:
harmless kill the cell
Make cell cancerous damage the cell
• Mutations in different genes will obviously produce different effects.
• Two types of gene are important in regulating cell division and
mutation to prevent tumor formation .
A. Proto-oncogenes; when proto-oncogenes mutate, they become
active and stimulate cell to divide in an uncontrolled manner.
B. Tumor-suppressor genes; recognize this uncontrolled cell division
and act to suppress cell division.
If these genes mutate and become inactive, a tumor will form as
uncontrolled cell division .
Tumor-is a mass of cells created when cell replication gets out of30
Manipulation of DNA Genetic Engineering
• Genetic engineering is a process altering genome of an organism.
• This done by having extra (foreign) gene from different organisms.
• This type of organism termed genetically modified organism (GMO),
transgenic organism or genetically engineered organism.
• Genetic engineering is early done on Bactria, to produce useful
products like:
Insulin, antibiotics, washing enzyme.
Enzyme for food processing industry.
Human growth hormone.
Vaccines-Hepatitis B.
Bovine somatotrophin, high yield milk and muscle in cattle.
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• Plants also genetically modified:
To absorb more CO2 – (prevent global warming).
Disease (drought) resistant.
Improved yield.
Produce specific product e.g. golden rice produce beta-
carotene (in vitamin 'A') prevent night blindness.
• Some other potential applications of genetic engineering are:
Disease could be prevented by detecting defected genes.
To treat infectious diseases by implanting antiviral
proteins (antibodies).
Disease resistant.
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5.4 ABO Blood Groups and Rh Factors
• In 1901, three blood types, A, B, and O was discovered.
• Type AB is rare and was discovered later.
• An individual's red blood cells contain proteins of type A, or B, or
both, or neither.
• The body produces antibodies that will attack any foreign type.
• In blood grouping Alleles of types IA and IB are dominant over type
i(o). Table 5.1 Types of blood
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• Rh Factor (D antigen): The Rh factor, the second most
important blood group system.
• Rh Factor first discovered in Rhesus monkeys.
• The Rh factor is inherited independently from the ABO blood
type.
• Genotypes for the Rh factor are +/+, +/-, and -/-.
• People who are +/+ or +/- possess the Rh(D) antigen and test as
Rh positive. People who are -/- do not posses the Rh(D) antigen
and test as Rh negative.
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Rh Sensitization: One interesting medical scenario
involves an Rh negative mother who carries an Rh
positive baby.
The baby of an Rh positive father and an Rh negative
mother can be +/- or -/-.).
If the baby is +/-, the first pregnancy causes Rh
sensitization in the mother.
because she is exposed to foreign proteins and builds up
antibodies against them.
Future pregnancies can be increasingly difficult, as the
mother's antibodies attack the baby.
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5.5 Introduction To Evolution
Evolution is the gradual change of organisms on the earth.
As evolution has progressed, new species are arising.
5.5.1 Theories on the origin of life on Earth
Evolution is also the change in genetic composition of a population over successive
[Link] leads to the population diverges to the origin of a new species.
Theories about the origin of life
The theory of evolution describes how the various forms of life on earth (including
humans) emerged and developed.
The following are the main theories about the origin of life on Earth:
special creationism
spontaneous generation
eternity of life
cosmozoan theory
biochemical origin
Theory of acquired characteristics.
Theory of Natural selection. 36
A. Special creationism
• Special creation theory states that the different forms of life on earth
were created by a Supreme Being/ God/.
• Special creation is always linked to religion and mainly focused on
spiritual matters.
Types of creationism theory
1. Gap creation; discusses a large gap between the formation of the
earth and the creation of all the animals and plants.
The gap could be billions or millions of year.
2. Progressive creation- accepts the Big Bangs as the origin of the
universe.
It accepts the fossil record of a series of creation for all of the
organisms.
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but it does not accept these as part of a continuing process (eachC is
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seen
as unique creation).
3. Evolutionary creationism (Theistic evolution) –stated that
God invented‘ evolution and takes some form of an
active part in the ongoing process of evolution.
4. Intelligent design, states that life developed due
to a combination of natural forces and supernatural being.
B. Spontaneous generation theory
• Suggests that life can evolve 'spontaneously' from non
living objects.
• E.g. people believed that rotting meat turned into flies .
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C. Eternity of life
• States that the universe has always existed and there is life always in
the universe.
• There is no beginning and no end to life on earth.
• Life is neither created nor generated from non-living matters .
D. Cosmozoan Theory
• States that life on the earth originally came from elsewhere in the
universe (possibly from another planet).
E.g. Meteorites brought bacterial spores, germs to the earth.
• This theory did not gain any significant support because it lacks
evidence.
• It is strongly linked to the eternity of life‘ theory of the origin
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life.
E. Biochemical theory
• Suggests that life on earth originated as a result of biochemical
reactions that produce organic molecules.
• This theory is also called abiogenesis;
• Means that life originates from chemical inanimate ( abiotic substances).
• Abiogenesis developed by Aleksander Oparin (1924) and John
Haldane (1929).
• They both suggested: The primitive atmosphere of the earth was a
reducing atmosphere.
• No free oxygen (no oxygen gas).
There was an appropriate supply of energy, such as
lightening or Uv.
This would provide the energy for reactions to synthesize
organic compounds. 40
F. Theory of Acquired Characteristics.
This theory is also called theory of transformation‘ or Lamarckism.
Formulated by Lamarck and stated that “change was gradually
introduced into the species and passed down through the generations”.
The two parts of Lamarck theory are:
1. Use and disuse
Organism that can be used, continuous will become enlarged or more
developed.
But structure that is not used not continued and developed.
2. Inheritance acquired traits
Nowadays, Lamarck‘s theories are not accepted because the changes is
in the phenotypes.
The organisms gametes and heredity have no effected.
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G. Theory of Natural Selection.
• Natural selection; When beneficial in a population tend to be
preserved while unfavorable tend to be lost.
• Formulated by Charles Darwin (1809–1882) and Alfred Russel
Wallace (1823–1913).
• Darwin visited five of the Galapagos Islands, to study finches.
• Darwin concluded that ancestral finch had colonized the Islands
from mainland and evolve into different species.
• E.g. insect eaters (pointed peak) and seed eaters (crushing peak).
• From his observation Darwin concluded that:
1. All species tend to produce more offspring's (Fecundity)
2. There is a variation among the offspring's.
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3. There is struggle between members of a species for
reproduction and resources.
4. Some members of a species better adapted than others
due to variation in the offspring.
Charles did not know how a variation in the population was
passed to the next generation.
Now day‘s genes are the driving force of evolution in the
theory of Natural selection.
This is known as Neo – Darwinism Theory.
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