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Biotechnology 8 Reviewer

The document provides an overview of biotechnology, tracing its history from ancient practices to modern advancements. It discusses the definitions of biotechnology, notable historical figures and their contributions, and the evolution of techniques such as selective breeding in both plants and animals. Additionally, it highlights key milestones in biotechnology from the 20th century to the present, including the discovery of DNA structure and the development of genetically engineered products.

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0% found this document useful (0 votes)
81 views21 pages

Biotechnology 8 Reviewer

The document provides an overview of biotechnology, tracing its history from ancient practices to modern advancements. It discusses the definitions of biotechnology, notable historical figures and their contributions, and the evolution of techniques such as selective breeding in both plants and animals. Additionally, it highlights key milestones in biotechnology from the 20th century to the present, including the discovery of DNA structure and the development of genetically engineered products.

Uploaded by

hsparkleshine
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as DOCX, PDF, TXT or read online on Scribd

BIOTECHNOLOGY

REVIEWER
(ADVANCED SUBJECT FOR GRADE 8 STE LEARNERS)

LESSON 1: INTRODUCTION TO BIOTECHNOLOGY

The term “Biotechnology” was first used in 1919 by a Hungarian agricultural


engineer named Karl Ereky, in a book called "Biotechnology of Meat, Fat and Milk
Production in an Agricultural Large-Scale Farm”. The term biotechnology originally
referred to “all the kinds of work by which products are produced from raw materials
with the aid of living organisms”. And for Ekery, the term “Biotechnology" indicated
the process by which raw
materials could be biologically upgraded into socially useful product.

The Food and Drug Administration (FDA) has their own understanding and
definition of biotechnology and it is “the application of biological systems and
organisms to technical and industrial processes”. This definition takes both the old
and new science or the combination of age-old techniques and most advanced uses
of recombinant DNA technology.

Ancient Biotechnology (prior to 1750) - It refers to the old biotechnological


processes that are based on the inherent capability of microbes for carrying out a
reaction leading to a fruitful product.
 Most of the biotech developments before the year 1800 can be termed as
‘discoveries’ or ‘developments. If we study all these developments, we can
conclude that these inventions were based on common observations about
nature.

 Humans have used biotechnology since the dawn of civilization.

 The earliest example of biotechnology is the domestication of plants and


animals. Domestication began over 10,000 years ago when our ancestors
started keeping plants as a reliable source of food. Rice, barley and wheat
were among the first domesticated plants. Wild animals were tamed to
provide milk or meat or help with ploughing or guarding the farm. The dog,
sheep and goat are thought to be among the first animals that were
domesticated.

 500 BCE: In China, the first antibiotic, moldy soybean curds, was used to treat
boils.

 One of the oldest examples of crossbreeding for the benefit of humans is


mule. Mule is an offspring of a male donkey and a female horse. People
started using mules for transportation, carrying loads, and farming, when
there were no tractors or trucks.

 Our early ancestors used microorganisms to make cheese, yoghurt and


bread. They also made alcoholic drinks like beer and wine. All of these foods
and drinks are made by fermentation.

 Fermentation - is the process that many microorganisms (yeasts, moulds and


bacteria) use to convert sugars into energy.

 The products generated from fermentation affect the nature of the food that
the microorganism is in – carbon dioxide causes bread to rise, lactic acid
makes yoghurt sour, and alcohol is produced in the formation of beer and
wine.

Classical Biotechnology (1750-20th century)


-A strand of traditional biotechnology
- Started when industrial exploitation of fermentation
process for production of huge numbers of products began.
- The second phase of evolution and development of
Biotechnology
- Notable persons and their works or discoveries during the
peak of CLASSICAL BIOTECHNOLOGY.
1663: By Robert Hooke
- First description of living cells
- Reported the first clear drawing of plant cells from a cork
- But, With the limited magnification of the microscope, and the poor
preparation of the cells. It was restricted

1677: By Anton Van Leeuwenhoek


- Discovery and Description of Bacteria and Protozoa
Protazoa
- Single celled organism, He called “Animalcules”
Bacteria
- He discovered “Genus Selenomonas”, a bacterium. A crescent shaped bacteria
from the human mouth
1862: By Louis Pasteur
- Discovered the bacteria origin of fermentation
- He proved that living cells, and the yeast were responsible for sugar to alcohol
- And that fermentations are sour because, of the contamination of microorganisms
found in ordinary air

1863: By Gregor Mendel


- Discovered the Law of Inheritance or Principles of Inheritance
- is experiment with garden peas laid down the now Laws of Inheritance
- He made 3 observations, then followed them up and performed more experiments
that led him to these principles governing the inheritance of traits.
LAW OF INHERETANCE
LAW OF SEGREGATION - He inferred the two factors that determine a trait
segregate when sex cells are formed (During Meiosis).
LAW OF DOMINANT- The dominant trait, the one shown, the recessive trait, the
one not shown.
LAW OF INDEPENDENT ASSORTMENT- He concluded That the allele (Version of
DNA sequence) of the gene pair for a particular pair of traits segregate
independently of the alleles of pairs for the other traits.
1866: By Louis Pasteur
- He published his findings on the direct link between yeast and sugar and
fermentation.
- He is renowned for his discovery of the principles of vaccination, fermentation and
pasteurization.
- Proved that living cells and the yeast were responsible for forming alcohol from
sugar and that contaminating microorganisms found in ordinary air could turn the
fermentation sour.
1869: By Fredrich Miesche
- Identifies DNA in the sperm of a freshwater fish of the salmon family.
- Was the first scientist to isolate nucleic acid in 1869.
- in 1869, He isolated "nuclein” (DNA with associated proteins) from cell nuclei. He
was the first to identify DNA as a distinct molecule.
1877: By Robert Koch
- A technique of identifying a bacterium through staining was developed
-Staining, a technique used in microscopy to enhance contrast in a microscopic
image.
- Stains and dyes are used to highlight structures in microbes for viewing, often with
the aid of microscopes.

1878: By Walther Fleming


- Discovery of chromatin leading to the discovery of chromosomes.
- Walther Flemming is the founder of cytogenetics
- Described chromosome behavior during animal cell
division and was one of the first cytologists.
He is the first to detail how chromosomes move during mitosis, or cell division.

1881: By Louis Pasteur


- He demonstrated that the Microorganisms cause diseases
- He also discovered how to make vaccines against Fowl Cholera, Anthrax, and
Rabies using weakened, or attenuated microbes.
1915: By Bakers Yeast
- Commercially produced on a nutrient source rich in sugar (like molasses)
- It is fermented in large tanks, Then once yeast fills the tank, it is harvested using
centrifugation, making an off-white liquid which is cream yeast

1928: By Alexander Fleming


- A mold called Penicillium notatum simply contaminated his petri dishes, And he
discovered that it prevented the normal growth of Staphylococci, by looking it under
a microscope.
- Then started test tube culturing with hand lenses

1993: By Hybrid Corn


-Hybrid Corn was commercialized
- Drought started the commercialization of hybrid.com
- People preferred them because they grow fast faster, they are larger, and they
have a longer lifespan.
1942: By Alexander Fleming
- Penicillin is mass produced in microbes for the first time
- Penicillin, Drug that was made to clear a bacterial infection
- The accidental discovery of moldy petri-dish led to 20-year long journey of the
development of the world’s first mass produced drug.

1950: The First Synthetic Antibiotics


- The first synthetic antibiotic was created
- Chloromycetin, the first synthetic antibiotic
- The fluoroquinolones, also known as the quinolones, are a synthetic, bactericidal
antibacterial class with a broad-spectrum of activity used in adults ( not children ).
- Paul Ehrlich discovered the very first antibiotics, synthetic arsenic-based drugs
(salvarsan), in a large screen of hundreds of organ arsenic compounds for use
in the treatment of syphilis

Different types of products were made during the time of classical


biotechnology. There were beverages like beer, wine, and cider. Then
products like vinegar, glycerol, acetone, butanol lactic acid, citric acid,
vitamins, and antibiotics like penicillin. During this time Amino Acid was
also used to improve the taste and quality of preserved food.

MODERN BIOTECHNOLOGY (1950-PRESENT)


1951 – Using a frozen semen, an artificial insemination of livestock was
accomplished.

1953 – DNA structure was described by James D. Watson and Francis Crick.

1972 – The chimpanzees and gorillas’ DNA composition was discovered to be 99%
similar to that of humans.

1974 – Scientists invent the first bio-cement for industrial applications.

1975 – Method for producing monoclonal antibodies developed by Kohler and César
Milstein.

1982 – The first biotech drug to be approved by the Food and Drug Administration is
“Humulin”, a human insulin drug produced genetically for the treatment
of diabetes.

1990 – The first approved gene therapy treatment is performed successfully on a


young girl with an immune disorder.

1997 –Dolly the sheep was cloned using DNA from two adult sheep cells by British
scientists led by Ian Wilmut of Roslin Institute.

2002 – The year when “rice” becomes the first crop to have its genome decoded.

2003 –The locations and sequence of human genes on all 46 chromosomes was
provided in the completion of the Human Genome Project.
2009 – The first viral pacemaker in guinea pigs was created using a modified SAN
heart gene by Cedars-Sinai Heart Institute.

2012 – A 31 y/o man with a nervous system-controlled bionic leg named Zac
Vawter successfully climb the Chicago Willis Tower.

LESSON 2: TRADITIONAL BIOTECHNOLOGY


TECHNIQUES
A. According to National Geographic Society Encyclopedia “Domestication is the
process of adapting wild plants and animals for human use. Domestic species
are raised for food, work, clothing, medicine, and many other
uses. Domesticated plants and animals must be raised and cared for by
humans.” As humans discovered more plant varieties and traits or characteristics,
they
gradually became adept at breeding specific plant varieties over several years
and sometimes generations, to obtain desired traits such as disease resistance,
better taste and higher yield. With the domestication of animals, ancient
farmers applied the same breeding techniques to obtain desired traits among
animals over generations.
B. Charles Darwin, a British naturalist who lived in the 19th century, is best
known for his book On the Origin of Species. In it, Darwin established the idea
of evolution that is widely accepted today. This idea proposes that all species
alive have resulted from an adaptation to their surroundings. Natural
selection, the process by which traits are handed down over time, is probably
the most famous principle from the book. The process of artificial selection,
however, is perhaps not as well known. And yet it remains one of the most
important concepts in our understanding of human, plant and animal behavior.
Today artificial selection is more often called selective breeding. Selective
breeding involves breeding animals or plants for a specific, typically desirable
trait. By doing so, the desired genes from the plant or animal will be passed
onto its offspring

B.1 Plant Selective Breeding


Every living thing passes down its genes from parent to offspring, and plants are
no different. However, all offspring look slightly different from the parent, a
phenomenon known as variation. Scientists can take advantage of this by
using a process called hybridization. Variants of a plant can be selected for
desirable traits, like bigger fruit or stronger stems. These variants are then
mated together to produce the best traits. Scientists repeat this process over
many generations, trying to cultivate plants with the best traits.
Artificial selection in plants or plant breeding is defined as identifying and
selecting desirable traits in plants and combining these into one individual
plant. Since 1900, Mendel's laws of genetics provided the scientific basis for
plant breeding. As all traits of a plant are controlled by genes located on
chromosomes, conventional plant breeding can be considered as the
7manipulation of the combination of chromosomes. In general, there are three
main procedures to manipulate plant chromosome combination. First, plants of
a given population which shows desired traits can be selected and used for
further breeding and cultivation, a process called pure line selection. Second,
desired traits found in different plant lines can be combined to obtain
plants which exhibit both traits simultaneously, a method termed
hybridization. Heterosis, a phenomenon of increased vigor, is obtained by
hybridization of inbred lines. Third, polyploidy (increased number of
chromosome sets) can contribute to crop improvement. Finally, new genetic
variability can be introduced through spontaneous or artificially induced
mutations.
Over the last century, artificial selection has been successfully used to create
new hybrids of crops and fruit. For instance, corn can be bred to be larger and
thicker in the cobs to increase grain yield from a single plant. Other notable
crosses include broccoflower (a cross between broccoli and cauliflower) and a
tangelo (the hybrid of a tangerine and a grapefruit). The new crosses create a
distinctive flavor of the vegetable or fruit that combines the properties of their
parent plants.

B.2 ANIMAL SELECTIVE BREEDING


Selective breeding in agriculture and animal husbandry is usually based on
selection of parents with desirable traits to produced improved offspring. In
conventional breeding, offspring inherit genes for both desirable and undesirable
traits from both parents. Breeders conserve desired characteristics and suppress
undesirable ones by repeatedly selecting worthy individuals from each generation
to be the parents of the next. This process leads to a population expressing a
combination of inherited traits that distinguishes it from the rest of the species. In
livestock, such a population is described as a variety of breed.
Breeding Systems:
1. Pure breeding or also known as true breeding is a kind of breeding wherein
the parents would produce offspring that would carry the same phenotype
(observable characteristics or traits). This means that the parents are
homozygous (having two identical alleles of a particular gene) for every trait.
An example of true breeding is that of the Aberdeen Angus cattle. The cattle
have been black for many generations, which is an indication that such trait
passed on from many generations remains pure. Another example is the
mating between two dogs of the same breed. The traits of the resulting
offspring would therefore be more predictable.
2. Crossbreeding involves the mating of animals from two breeds. Normally,
breeds are chosen that have complementary traits that will enhance the
offspring’s’ economic value. An example is the crossbreeding of Angus
and Charolais beef cattle. Angus produce high-quality beef and Charolais are
especially large, so crossbreeding produces an animal with acceptable
quality and size
3. Mating animals that are related causes inbreeding. Inbreeding is often
described as “narrowing the genetic base” because the mating of related
animals’ results in offspring that have more genes in common. Inbreeding is
used to concentrate desirable traits. Mild inbreeding has been used in some
breeds of dogs and has been extensively used in laboratory mice and rats.
For example, mice have been bred to be highly sensitive to compounds that
might be detrimental or useful to humans. These mice are highly inbred so
that researchers can obtain the same response with replicated treatments.

C. A biological leaver is a substance used to make baked products to become


lighter. They make the baked product to expand or rise. A leaver can be baking
soda, baking powder or yeast. A leaver is what the dough needs to begin to rise.
According to Webster’s New World Dictionary, the word “leaven” comes from the
Latin word “levare,” a word that means “lift up, to make light and rise.”
The yeast love to eat their favorite sugar in a warm, moist environment
where they will multiply in numbers. As the yeast munch away on their sugar, a
process called anaerobic fermentation begins to take place. The by-products
of this process are alcohol and carbon dioxide. Fermentation or anaerobic
respiration is a process by which the living cell is able to obtain energy through
the breakdown of glucose and other simple sugar molecules without requiring
oxygen.
There are two important types of fermentation: lactic acid fermentation
and alcohol fermentation. The first step in these two processes is glycolysis.
Glucose breaks into pyruvate through the enzyme of yeast and bacteria,
producing 2 ATP. Yeast splits pyruvate into alcohol and carbon dioxide, while
bacteria change pyruvate to lactic acid.
Fermentation is a chemical change that happens in vegetable and animal
substances. For thousands of years people have used fermentation to make
bread, wine, beer, cheese, and other foods.
Fermentation often happens through the work of tiny living things called
yeasts, bacteria, and mold. These living things create substances
called enzymes. The enzymes break down food into chemicals.
When bakers add yeast to bread dough, the yeast breaks down the sugars in
the dough. While this happens, carbon dioxide gas is released. The escaping
carbon dioxide makes the bread rise.
When winemakers add yeast to grape juice, the yeast changes the juice’s
sugar into alcohol. Beer is another drink made through the fermentation caused
by yeast. People eat many other fermented foods. Cheese comes from milk or
cream
that has been fermented by bacteria. Soy sauce is made from fermented soybeans.
As meat ages it becomes more tender. This is also due to fermentation.
In addition, scientists use fermentation to make certain drugs and vitamins.
The drug penicillin is made through fermentation caused by mold.

D. Pasteurization
Pasteurization is named in honor of French chemist Louis Pasteur. In 1864,
Pasteur developed a technique to heat wine to 50–60 °C (122–140 °F) before aging
it
to kill microbes and reduce acidity.
However, the technique had been in use since at least 1117 AD in China to
preserve wine. In 1768, Italian scientist Lazzaro Spallanzani demonstrated heating
meat broth to boiling and immediately sealing the container kept the broth from
spoiling. In 1795, French chef Nicolas Appert sealed foods in glass jars and
immersed them in boiling water to preserve them (canning). In 1810, Peter Durand
applied a similar method to preserve foods in tin cans. While Pasteur applied his
process to wine and beer, it wasn't until 1886 that Franz von Soxhlet suggested
pasteurization of milk.
The basic premise behind pasteurization is that heat kills most pathogens and
inactivates some proteins, including enzymes responsible for food spoilage. The
exact process depends on the nature of the product.
Early pasteurization of wine and beer was intended to improve flavor. Canning
and present-day pasteurization of food primarily target food safety. Pasteurization
kills yeast, mold, and most spoilage and pathogenic bacteria. The effect on food
safety has been dramatic, particularly regarding milk. Pasteurization greatly
reduces the risk of food poisoning and extends shelf life by days or weeks.
In the modern era, pasteurization refers to any process used to disinfect food
and inactivate spoilage enzymes without significantly diminishing nutrient levels.
These include non-thermal as well as thermal processes. Examples of newer
commercial pasteurization processes include high-pressure processing (HPP or
pascalization), microwave volumetric heating (MVH), and pulsed electric field (PEF)
pasteurization.

E. Antibiotic Production
Luckily, Fleming had not stored his culture in a warm incubator. London was then
hit by a cold spell, giving the mold a chance to grow.
Later, as the temperature rose, the Staphylococcus bacteria grew, covering the
entire plate, except for the area surrounding the moldy contaminant.
Fleming correctly deduced that the mold must have released a substance that had
inhibited the growth of the bacteria.
He discovered that the antibacterial substance was not produced by all molds, only
by strain of Penicillium notatum.
Although he could not isolate it without killing the mold, he named the active
substance “penicillin”. It wasn’t until 1940 that penicillin started to be made in
large enough quantities to
treat ill patients. It was because of these two scientists, Howard Florey and Ernst
Chain that found Fleming’s work with penicillin and discovered a way to make
enough of the chemical to treat patients. Florey deliberately injected eight mice
with
deadly bacteria. 4 of the mice were given penicillin and 4 were not. The 4 mice that
had been given penicillin survived, the others died after 15 hours.
The first human to be treated was Albert Alexander, a policeman who was dying
of
a very serious bacterial infection. He started to improve after being given penicillin;
however, supplies of the drug ran out and the man eventually died.
The 2 scientists eventually worked out a way to make large amounts of penicillin
and, as a result, it saved many soldiers’ lives during World War II. Fleming, Florey
and Chain, all received the Nobel Prize for Medicine in 1945 for their work with
Penicillin.

LESSON 3: COMMONLY USED MICROBES IN


BIOTECHNOLOGY
BACTERIA
Bacteria are one-celled organisms. They can be found almost everywhere.
They come in three basic shapes- rods, spheres, and spirals.
- Some have tails called agella that enable them to move.
DIFFERENT SHAPES OF BACTERIA
 BACTERIA COCCUS/COCCI (Spherical)
 BACILLUS/BACILLI (Rod-shaped)
 SPIRILLUM/SPIRILLA (SPIRAL)

Some bacteria have a sticky gelatinous capsule around their cell wall. The
cell wall that contains peptidoglycan protects the bacterium by preventing it
from bursting. They also have genes located in a single circular chromosome
and not enclosed in a nucleus. A few genes are in a small circular
chromosome piece called a plasmid. Some have pili, a hairlike structure
emerging from the cell surface which helps the bacterium stick to a surface
and bridges the exchange of DNA between two bacteria. And a plasma
membrane that surrounds the cell and regulates what enters and leave the
cell.

EXAMPLES:

Lactobacillus is generally one of the good bacteria. For instance, it is


friendly to our gut. It is also noted for its effect on milk products, producing
buttermilk, yogurt, sour cream, and cheese.

Escherichia coli is the most common bacteria in our intestine. They help our
body breakdown the food we eat and assist in the production of vitamins that
our body cannot reproduce by itself. But they may also cause human
infections.

Pseudomonas may cause diseases to us, but some are important in


decomposition and bioremediation.

Streptomyces, a lamentous and soil-dwelling bacterium is used in the


production of antibiotics such as streptomycin and chloramphenicol.

VIRUS

Viruses are the smallest type of microbes, even smaller than bacteria. They
come in many shapes. Many have geometric shapes, like cut diamonds,
others are liked spiky eggs, and some are more complicated, like a tiny
spaceship landing pod.

They are considered nonliving because they don’t


exhibit all the criteria for life except reproduction.
Viruses reproduce only when they are inside a living
cell.
Once inside the host cell, they rapidly multiply destroying the cell in the
process.

An outer protein coat called a capsid. The capsid includes a protein that
enables a virus to enter.

A Rabies virus is a neurotrophic virus that causes rabies in humans and


animals.

While Influenza virus is a contagious respiratory illness that infects the nose,
throat, and sometimes lungs.

Most viruses are highly specific to the cells they infect. Bacterial viruses
infect only a certain type of bacteria.

Bacteriophage virus is a virus that infects a bacterium. It is now used as


antibacterial agents. It is also used as DNA delivery vehicles, moving genes
from one bacterium to another

EXAMPLES
• BACTERIOPHAGE
• INFLUENZA
• MUMPS
• RABIES
• COVID

FUNGI

Fungi are eukaryotic nonmotile organisms that obtain food by decomposing


organic matter. Most species are multicellular, but there are some which are
unicellular, such as yeast. Fungi come in a variety of shapes and sizes and
different types.

They can range from single cells to enormous chains of cells that can stretch
for miles. Yeast cells look round or oval under a microscope. They are as
bigger than a bacterium but too small for your eyes to see them individually.

Most fungi reproduce asexually by forming spores while some like yeast is
through budding. And there are some which reproduce sexually when the two
mating strains come in contact

The cell walls of most fungi contain a hard substance called chitin.

The basic structural units of multicellular fungi are their threadlike filaments
called hyphae which develop from fungal spores. It contains cytoplasm and
one or more nuclei.
Intertwined hyphae make up the body of the fungi’s the mycelium Candida,
a yeast, grows in moist regions of the body, may cause a painful infection.

Aspergillus may cause diseases but also useful in the production of citric
acid and extracellular enzymes.

Penicillium may also harm us once inhaled or ingested

Agaricus, commonly known as the cultivated mushroom, is a basidiomycete


mushroom

Saccharomyces, which means “sugar fungi” is the most common yeast


used for baking and brewing.

Lesson 4: roles of dna, rna and protein in the


transmission of traits

Deoxyribonucleic Acid or DNA is the blueprint of heredity. It has code of


instructions for the expression of inherited traits. It keeps a record of clues
about our genetic history. It provides the molecular basis of heredity, as life
continues from one generation to the next.

DNA serves as the genetic material in all living organisms as well as


in most viruses. It is organized into genes and stores genetic information.
As part of the chromosomes, the information contained in genes can be
transmitted faithfully by parents through gametes to their offspring. As
genetic material, the DNA is sufficiently stable so mutations can occur only
very rarely. It can store tremendous amount and variety of biological
information. It can use this genetic information from one generation to the
next. It is self-replicating, thus allow the transmission of genetic information
from cell to cell and from generation to generation.

LOCATION:

DNA is part of the chromosomes located in the nucleus of the cell. It is


tightly coiled around an equal mass of proteins called histones. It exists in
cells as long, coiled ladderlike structure. It is also found in the cytoplasmic
organelles like mitochondria and plastids. DNA found in these organelles are
called extranuclear DNA, while those in the nucleus are called nuclear
DNA.

FUNCTION:
The important functions of DNA include the storage of genetic information,
expression of genetic information through synthesis of specific proteins, self-
replication that provides how genetic information can be transmitted from
cell to cell and change by mutation to provide variability among organisms.

STRUCTURE:

DNA is one of the nucleic acids present in the cell. It is made up of


nucleotides composed of nitrogen base, sugar and phosphate group.
The pentose sugar is the deoxyribose that has one less oxygen than ribose
sugar present in the other type of nucleic acid, the ribonucleic acid, or RNA.
There are two classes of nitrogen bases called purines (double-ringed
structures) and pyrimidines (single-ringed structures).
The four bases in DNA's alphabet are:
• adenine (A) - a purine
• cytosine(C) - a pyrimidine
• guanine (G) - a purine
• thymine (T) - a pyrimidine

Watson and Crick


discovered that DNA had
two sides, or strands,
and that these strands
were twisted together
like a twisted ladder --
the double helix. They
established that the
strands of their proposed
double helix are
antiparallel, that is
their C-5’ (read as 5
prime carbon end) to C-
3’ (read as 3 prime
carbon end) orientations
run in opposite direction,
and exact complements
of one another, such that
the rungs of the ladder
always consist of either A
= T or G = C. Adenine
and thymine are held by
double hydrogen
bonds while guanine
and cytosine by triple
hydrogen bonds.
According to Erwin
Chargaff in a DNA
molecule, the amount of adenine equals the amount of thymine, and the
amount of cytosine equals the amount of guanine. Using Chargaff’s data,
Watson and Crick proposed the concept of complementary base pairing of
adenine and thymine and cytosine and guanine. This complementarity serves
as basis for the replication of DNA, the expression of hereditary
characteristics that involves the transcription of DNA into RNA, and the
transmission of genetic information from generation to the next.

LESSON 5: DNA MUTATIONS


DNA: The molecular basis of mutations

Since mutations are simply changes in DNA, in order


to understand how mutations work, you need to
understand how DNA does its job. Your DNA contains
a set of instructions for "building" a human. These
instructions are inscribed in the structure of the DNA
molecule through a genetic code. It works like this:

Protein-coding DNA can be divided into codons — sets of


three bases that specify an amino acid or signal the end of
the protein. Codons are identified by the bases that make
them up — in the example at right, GCA, for guanine,
cytosine, and adenine. The cellular machinery uses these
instructions to assemble a string of corresponding amino
acids.

(one amino acid for each three bases) that form a


protein. The amino acid that corresponds to "GCA" is called alanine; there are twenty
different amino acids synthesized this way in humans. "Stop" codons signify the end
of the newly built protein.

After the protein is built based on the sequence of bases in the gene, the completed
protein is released to do its job in the cell.

TYPES OF MUTATION

Substitution
A substitution is a mutation that exchanges one base for another (i.e., a change in a
single "chemical letter" such as switching an A to a G). Such a substitution could:

1. MISSENSE MUTATION
2. SILENT MUTATION
3. NONSENSE MUTATION
If a substitution changes the amino acid, it’s called a MISSENSE mutation.

If a substitution does not change the amino acid, it’s called a SILENT mutation.

If a substitution changes the amino acid to a “stop”, it’s called a NONSENSE


mutation.

Since protein-coding DNA is divided into codons three bases long, insertions and
deletions can alter a gene so that its message is no longer correctly parsed.
These changes are called frameshifts.

INSERTION
DELETION
The causes of mutations

Mutations happen for several reasons.

1. DNA fails to copy accurately

Most of the mutations that we think matter to evolution are "naturally


occurring." For example, when a cell divides, it makes a copy of its DNA —
and sometimes the copy is not quite perfect. That small difference from

the original DNA sequence is a mutation.

2.External influences can create mutations


Mutations can also be caused by exposure to specific chemicals or radiation. These
agents cause the DNA to break down. This is not necessarily unnatural — even in
the most isolated and pristine environments, DNA breaks
down. Nevertheless, when the cell repairs the DNA, it might
not do a perfect job of the repair. So, the cell would end up
with DNA slightly different than the original DNA and hence, a
mutation.

THE EFFECTS OF MUTATION


Since all cells in our body contain DNA, there are lots of
places for mutations to occur; however, some mutations
cannot be passed on to offspring and do not matter for evolution.
Somatic mutations occur in non-reproductive cells and won't be passed onto
offspring. For example, the golden color on half of this Red Delicious apple was
caused by a somatic mutation. Its seeds will not carry the mutation.
The only mutations that matter to large-scale evolution are those that can be
passed on to offspring. These occur in reproductive cells like eggs and sperm and
are called germ line mutations.

Effects of germ line mutations:

A single germ line mutation can have a range of effects:

1.No change occurs in phenotype. Some mutations don't have any noticeable
effect on the phenotype of an organism. This can happen in many situations:
perhaps the mutation occurs in a stretch of DNA with no function, or perhaps the
mutation occurs in a protein-coding region but ends up not affecting the amino acid
sequence of the protein.

2. Small change occurs in phenotype. A single mutation caused this cat's ears to
curl backwards slightly.

A case study of the effects of mutation:

Sickle cell anemia


Sickle cell anemia is a genetic disease with severe symptoms, including pain and
anemia. The disease is caused by a mutated version of the gene that helps make
hemoglobin — a protein that carries oxygen in red blood cells. People with two
copies of the sickle cell gene have the disease. People who carry only one copy of
the sickle cell gene do not have the disease but may pass the gene on to their
children.

The mutations that cause sickle cell anemia have been extensively studied and
demonstrate how the effects of mutations can be traced from the DNA level up to
the level of the whole organism.

Consider someone carrying only one copy of the gene. She does not have the
disease, but the gene that she carries
still affects her, her cells, and her
proteins:
PREPARED BY: GRADE 8 CHAIRWOMAN
CHLOE NICOLE G. DEL ROSARIO

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