Cell: The Unit Of Life

Jon Paul M. Reyes,RMT,MBA,MSMLS

Program Chair
Medical Technology Department
What is cell?
➢ Cell is a structural and functional unit of life.
➢ Both living and non-living things are
composed of molecules made from chemical
elements such as Carbon, Hydrogen,
Oxygen, and Nitrogen.
➢ The organization of these molecules into cells
is one feature that distinguishes living things
from all other matter.
➢ The cell is the smallest unit of matter that can
carry on all the processes of life.
Cell Theory consists of three principles:

✓All living things are composed of one

or more cells.
✓Cells are the basic units of structure
and function in an organism.
✓Cells come only from the replication of
existing cells.
CELL DIVERSITY
✓Not all cells are alike.
✓Even cells within the same organism show
enormous diversity in size, shape, and
internal organization.
✓Our body contains around 300 different
cell types.
CELL SIZE
1. A few types of cells are large enough to be
seen by the unaided eye. The human egg
(ovum) is the largest cell in the body, and can
(just) be seen without the aid of a microscope.
2. Most cells are small for two main reasons:
a. The cell’s nucleus can only control a
certain volume of active cytoplasm.
b. Cells are limited in size by their surface
area to volume ratio.
Cell Shape
Cells come in a variety of shapes – depending on their
function:- The neurons from your toes to your head are long
and thin; Blood cells are rounded disks, so that they can
flow smoothly.
PARTS OF THE EUKARYOTIC CELL

➢The structures that make up a Eukaryotic

cell are determined by the specific
functions carried out by the cell.
➢Eukaryotic cells generally have three main
components:
➢A cell membrane, a nucleus, and a
variety of other organelles.
THE CELL MEMBRANE

✓ A cell cannot survive if it is totally isolated from its environment.

✓ The cell membrane is a complex barrier separating every cell from
its external environment.
✓ This "Selectively Permeable" membrane regulates what passes into
and out of the cell.
✓ The cell membrane is a fluid mosaic of proteins floating in a
phospholipid bilayer (protection).
✓ The cell membrane functions like a gate, controlling which
molecules can enter and leave the cell.
✓ The cell membrane controls which substances pass into and out of
the cell.
✓ Carrier proteins in or on the membrane are specific, only allowing a
small group of very similar molecules through.
✓ For this reason, the cell membrane is said to be selectively
permeable.
✓ The rest of the cell membrane is mostly composed of phospholipid
molecules.
✓ They have only two fatty acid ‘tails’ as one has been replaced by a
phosphate group (making the ‘head’).
✓ The head is charged and so polar; the tails are not charged and so are non-
polar.
✓ Thus the two ends of the phospholipid molecule have different properties in
water.
✓ The phosphate head is hydrophyllic and so the head will orient itself so that
it is as close as possible to water molecules.
✓ The fatty acid tails are hydrophobic and so will tend to orient themselves
away from water.
✓ So, when in water, phospholipids line up on the surface with their phosphate
heads sticking into the water and fatty a tails pointing up from the surface.
✓ This causes the phospholipids of the cell membrane to two layers, known as
a phospholipid bilayer. In this, the heads face the watery fluids inside and
outside the cell, whilst the fatty acid tails are sandwiched inside the bilayer.
Cytoplasm
1. Everything within the cell membrane which
is not the nucleus is known as the
cytoplasm.
2. Cytosol is the jelly-like mixture in which the
other organelles are suspended, so cytosol
+ organelles = cytoplasm.
3. Organelles carry out specific functions within
the cell. In Eukaryotic cells, most
organelles are surrounded by a
membrane, but in Prokaryotic cells there
are no membrane-bound organelles.
THE NUCLEUS
➢ The nucleus is normally the largest organelle within a
Eukaryotic cell. But it is NOT the ‘brain’ of the cell!!
➢ Prokaryotes have no nucleus, having a nuclear body instead.
This has no membrane and a loop of DNA - cccDNA - and no
chromatin proteins.
➢ The nucleus contains the cell’s chromosomes (human, 46,
fruit fly 6, fern 1260) which are normally uncoiled to form a
chromatinic network, which contain both linear DNA.
➢ The nucleus is surrounded by a double membrane called the
nuclear envelope, which has many nuclear pores through
which mRNA, and proteins can pass.
➢ Most nuclei contain at least one nucleolus (plural, nucleoli).
The nucleoli are where ribosomes are synthesized.
Ribosomes, you remember, translate mRNA into proteins.
➢ When a nucleus prepares to divide, the nucleolus disappears.
MITOCHONDRIA

➢ Mitochondria are found scattered throughout the cytosol, and

are relatively large organelles (second only to the nucleus and
chloroplasts).
➢ Mitochondria are the sites of aerobic respiration, in which
energy from organic compounds is transferred to ATP. For
this reason they are sometimes referred to as the
‘powerhouse’ of the cell.
➢ ATP is the molecule that most cells use as their main energy
‘currency’.
➢ Mitochondria are more numerous in cells that have a high
energy requirement - our muscle cells contain a large number
of mitochondria, as do liver, heart and sperm cells.
➢ Mitochondria have their own DNA, and new mitochondria
arise only when existing ones grow and divide.
Ribosomes
➢ Unlike most other organelles, ribosomes are
not surrounded by a membrane.
➢ Ribosomes are the site of PROTEIN
SYNTHESIS in a cell.
➢ They are the most common organelles in
almost all cells.
➢ Some are free in the cytoplasm
(Prokaryotes); others line the membranes of
rough endoplasmic reticulum (rough ER).
ENDOPLASMIC RETICULUM (ER)

➢ The ER is a system of membranous tubules and sacs.

➢ The primary function of the ER is to act as an internal
transport system, allowing molecules to move from one part of
the cell to another.
➢ The quantity of ER inside a cell fluctuates, depending on the
cell's activity.
➢ The smooth ER is where polypeptides are converted into
functional proteins and where proteins are prepared for
secretion.
➢ It is also the site of lipid and steroid synthesis, and is
associated with the Golgi apparatus.
➢ Involved in the regulation of calcium levels in muscle cells,
and the breakdown of toxins by liver cells.
➢ Both types of ER transport materials throughout the cell.
GOLGI APPARATUS

➢The Golgi apparatus is the processing,

packaging and secreting organelle of the
cell, so it is much more common in
glandular cells.
➢The Golgi apparatus is a system of
membranes, made of flattened sac-like
structures called cisternae.
➢It works closely with the smooth ER, to
modify proteins for export by the cell.
LYSOSOMES
➢Lysosomes are small spherical organelles
that enclose hydrolytic enzymes within a
single membrane.
➢Lysosomes are the site of protein digestion
– thus allowing enzymes to be re-cycled
when they are no longer required.
➢They are also the site of food digestion in
the cell, and of bacterial digestion in
phagocytes.
CYTOSKELETON
➢Just as your body depends on your
skeleton to maintain its shape and size, so
a cell needs structures to maintain its
shape and size.
➢In animal cells, which have no cell wall, an
internal framework called the cytoskeleton
maintains the shape of the cell, and helps
the cell to move.
CENTRIOLES
➢This consists of two bundles of
microtubules at right-angles to each other.
➢Each bundle contains 9 tubes in a very
characteristic arrangement
➢At the start of mitosis and meiosis, the
centriole divides, and one half moves to
each end of the cell, forming the spindle.
➢The spindle fibers are later shortened to
pull the chromosomes apart.
CILIA AND FLAGELLAE

➢Cilia and Flagellae are structures that

project from the cell, where they assist in
movement.
➢Cilia (sing. cilium) are short, and
numerous and hair-like.
➢Flagellae (sing. flagellum) are much
longer, fewer, and are whip-like.
PLANT CELL STRUCTURES
1. Most of the organelles and other parts of
the cell are common to all Eukaryotic
cells. Cells from different organisms have
an even greater difference in structure.
2. Plant cells have three additional
structures not found in animal cells:
➢ Cellulose cell walls
➢ Chloroplasts (and other plastids)
➢ A central vacuole.
CELLULOSE CELL WALL

➢ One of the most important features of all

plants is presence of a cellulose cell wall.
➢ Fungi such as Mushrooms and Yeast also
have cell walls, but these are made of chitin.
➢ The cell wall is freely permeable and so has
no direct effect on the movement of
molecules into or out of the cell.
➢ The rigidity of their cell walls helps both to
support and protect the plant.
VACUOLES
➢ The most prominent structure in plant cells is
the large vacuole.
➢ The vacuole is a large membrane-bound sac
that fills up much of most plant cells.
➢ The vacuole serves as a storage area, and
may contain stored organic molecules as well
as inorganic ions.
➢ The vacuole is also used to store waste.
Since plants have no kidney, they convert
waste to an insoluble form and then store it in
their vacuole.
CHLOROPLASTS

➢A characteristic feature of plant cells is the

presence of plastids that make or store
food.
➢The most common of these (some leaf
cells only!) are chloroplasts – the site of
photosynthesis.
➢Each chloroplast encloses a system of
flattened, membranous sacs called
thylakoids, which contain chlorophyll.
Multicellular Organization
➢In a unicellular organism, one cell carries
out all of the functions of life.
➢In contrast, most cells in a multicellular
organism are specialized to perform one
or a few functions – more efficiently.
➢Because of cell specialization, the cells of
multicellular organisms depend on other
cells in the organism for their survival.
TISSUE, ORGANS, AND ORGAN
SYSTEMS

In most Multicellular Organisms, we find the following organization:

✓ Cellular Level: The smallest unit of life capable of carrying out all
the functions of living things.

✓ Tissue Level: A group of cells that performs a specific function in an

organism.

✓ Organ Level: Several different types of tissue that function

together for a specific purpose.

✓ Organ System Level: Several organs working together to perform a

function. The different organ systems in a multicellular organism
interact to carry out the processes of life.
Plants also have tissue and organs.
The four plant organs are:
✓ Roots
✓ Stems
✓ Leaves and
✓ Flowers
END
CHROMOSOMES
Prepared by:
Jon Paul M. Reyes,RMT,MSMLS,MBA
Program Chair
OBJECTIVES
This chapter elucidates the nature of cytogenetics as a specific branch of genetics, At
the end of chapter, students are expected to:

a) Describe chromosomes in eukaryotes and prokaryotes

b) Differentiate among chromatin, chromatid and chromosome.
c) Present techniques in staining and in viewing chromosomes.
➢ Walther Fleming identify the fibrous
network within the nucleus, which he
named chromatin or stainable material.
➢ Chromosome number can be counted
readily during mitotic metaphase.
➢ Chromatin formed a threadlike bodies
which he termed mitosen.
 Euploidy pertains to the
presence of whole sets of
chromosomes.
 Polyploidy – condition where
chromosomes sets are present
in multiple of n.
 Somatic cells – diploid
 Gametes or sex cells – haploid
CHROMOSOME
SIZE:
 Interphase – longest and
thinnest
 Prophase- decrease in
length, increase in thickness
 Anaphase – smallest
 Metaphase – very thick, quite
short and well spread.
KARYOTYPE
 Illustrate a complete set of chromosome
 Photographic representation of metaphase
chromosome lined up in a descending
order of size with their centromere kept in
straight line.
 The cells are prevented from entering the
anaphase stage of cell division by treatment
with a chemical such as colchicine.
 The cells are then preserve chemically, spread on
microscope slide after staining and the a picture is taken.
 The picture are enlarge and then cut out before arranging
in a karyotype.
 It can give us an organisms correct number of
chromosomes, correct size and shape as well as
gender.
CENTROMERE
 It was first described by Fleming as the
“primary constriction” of the chromosome.
 It is a region of specialized chromatin
located within each constricted chromosome
responsible for the foundation for
kinetochore assembly and also function as a
site for sister chromatid attachment.
CENTROMERE LOCATION:
 Metacentric- near the middle or median in
location.
 Submetacentric – found between middle and
end.
 Acrocentric – found toward one end
 Telocentric- located near the end.
 Most eukaryotic chromosomes have only one
centromere that guarantees segregation
during mitosis.
 Acentric- chromosome with a missing
centromere, this type are generally unstable
since they cannot be correctly maneuvered.
 Dicentric – chromosomes with 2 centromeres
KINETOCHORE
 It is protein complex which assembles in the
centromere before cell division for the future
attachment of the spindle microtubules which
is essential for appropriate chromosomal
segregation during mitosis.
EUCHROMATIN AND
HETEROCHROMATIN
Heterochromatin

2 Groups:
A. Constitutive
- stays permanently in the heterochromatic stage; it does not revert to the euchromatic stage
B. Facultative
- involves euchromatin that takes on staining and compactness characteristics of heterochromatin
during some phase of development
DNA Packaging
 Eukaryotes have large genomes compared to prokaryotes.
 In order to fit their genomes into a cell, eukaryotes must pack their DNA tightly inside the
nucleus.
 Most cells in the human body contain about 3 billion base pairs of DNA packaged into 23
pairs of chromosomes. It is hard to imagine exactly how much DNA these numbers
represent.
 We can gain some insight by expressing the genome in terms of length. If we were to
arrange the DNA of a single human cell, like a skin cell, into a straight line, it would be two
meters long–over 6.5 feet.
 The human body contains around 50 trillion human cells. This means that each person has a
total of about 100 trillion meters of DNA. In other words, each person has enough DNA to
stretch from the Earth to the Sun 300 times!
 And humans do not have particularly large genomes–those of many fish, amphibians, and
flowering plants are much larger.
 For example, the genome of the flowering plant Paris japonica is 25 times larger than the
human diploid genome. These figures emphasize the astonishing task that eukaryotes must
accomplish to pack their DNA inside cells.
Nucleosomes Are Central Players in DNA Packaging
 Each nucleosome consists of DNA wrapped around a core of eight histone proteins. Each core is
composed of four different types of histones—H2A, H2B, H3, and H4—that are each present in two copies.
 Another type of histone—H1—binds to both the nucleosome and the linker DNA, stabilizing the structure.
 DNA becomes more compact as nucleosomes and linker DNA coil into chromatin fibers. Uncondensed
chromatin fibers, or euchromatin, are approximately 10 nm in diameter. Nucleosomes resemble beads on a
string in these fibers.
 As DNA continues to condense, the 10-nm fibers coil into strands that are approximately 30 nm thick, which
in turn form loops that make 300-nm thick fibers. When chromatin is fully compacted it is known as
heterochromatin.
 The loosely packed structure of euchromatin allows enzymes, such as RNA polymerase, access to the
DNA. Transcription, therefore, tends to occur predominantly in euchromatic regions of the genome, which
are rich in genes.
 By contrast, the tightly packed structure of heterochromatin blocks access to the DNA, preventing
transcription. Heterochromatin predominates in the centromeres and telomeres of chromosomes, where
highly repetitive DNA sequences are much more common than genes.
 Furthermore, organisms can dynamically adjust the level of DNA packing in response to cellular and
external environmental cues, de-condensing DNA when genes need to be turned on, and re-condensing it
to turn them off.
TELOMERE
FEULGEN STAINING

 Discovered by Robert Feulgen.

 Mild hydrolysis in 1N HCL at 600C for 10
minutes.
 In histology, it is used to identify
chromosomal material in DNA in cell
specimens.
 It is darkly stained and depends on acid
hydrolysis of DNA.
 A deep color is produced.
FEULGEN STAINING
Q-BANDING

 A fluorescent pattern obtained

using quinacrine for staining.
 They can be recognized by a
yellow fluorescence of differing
intensity.
 Most stained part is the
heterochromatin.
R BANDING
 Reverse banding are those located in the zones
that do not fluoresce with the quinacrine
mustard, that is they are between the Q bands
and can be visualized as green.
R BANDING
G BANDING
 Giemsa banding is a technique used
in cytogenetics to produce a visible karyotype by
staining condensed chromosomes. It is useful for
identifying genetic diseases through the photographic
representation of the entire chromosome
complement.
 It do not require fluorescent microscopy.
G BANDING
C BANDING
A technique of chromosomal staining in
which chromosomes are exposed to
alkaline and then acid conditions, in order
to reveal bands of constitutive
HETEROCHROMATIN that are identified
with Giemsa stain.
C BANDING
CHROMOSOME ANALYSIS
 Or karyotyping
 karyotyping is a test that evaluates the number
and structure of a person's chromosomes in
order to detect abnormalities.
FLUORESCENCE IN-SITU HYBRIDIZATION
(FISH)
 Uses fluorescent probes that attaches to specific
areas in the chromosome with high degree of
sequence complementarily
 Used to detect and localize the presence or
absence of specific DNA sequences
 Can be used to determine the possible cause of a
child’s developmental disability.
SPECTRAL KARYOTYPING (SKY) AND MULTIPLEX-FISH
(M-FISH)
 One of the most significant discovery in molecular genetics.
 A 24 colored probe was developed to label each human
chromosomes with distinct color.
 These method has allowed researchers to detect small
rearrangement in individuals with seemingly normal
karyotype and to determine more precisely the cytogenetic
aberrations in individuals with complex aberrant karyotypes.
SPECTRAL KARYOTYPING (SKY) AND
MULTIPLEX-FISH (M-FISH)
COMPARATIVE GENOMIC HYBRIDIZATION

 The ability to perform genome-wide scans to identify chromosomal

regions associated with loss or gain of genetic information.
 Involves the isolation and fragmentation of genomic DNA from both
control subject and an experimental subject.
 Green fluorescence– fragmented control DNA
 Red fluorescence- fragmented experimental DNA
MICROARRAY-BASED CGH METHOD
 More advanced version of CGH
 Do not require the use of metaphase
chromosomes which is very labor intensive and
leads to limited resolution.
CHROMOSOMAL
DISORDERS
END
History and Scope of
Genetics
Jon Paul M. Reyes,RMT,MBA,MSMLS
Program Chair
BS Medical Technology
Learning Objectives:

1. Define Genetics.
2. Review the historical summary of genetics.
3. Introduce key figures who contributed to the development of the science of genetics.
4. Familiarize the law of dominance.
5. Relate the simple experiment of Gregor Mendel and how he was credited as the Father of Modern
Genetics.
•
Introduction
Biology is the science of life. Its name is derived from the Greek
words "bios" (life) and "logos" (study). Biologists study the
structure, function, growth, origin, evolution, and distribution of
living organisms. There are generally considered to be at least
nine "umbrella" fields of biology, each of which consists of multiple
subfields.
1. Biochemistry: the study of the material substances that make
up living things
2. Botany: the study of plants, including agriculture
3. Cellular biology: the study of the basic cellular units of living
things
4. Ecology: the study of how organisms interact with their
environment
5. Evolutionary biology: the study of the origins and changes in
the diversity of life over time
6. Genetics: the study of heredity
7. Molecular biology: the study of biological molecules
8. Physiology: the study of the functions of organisms and their
parts
9. Zoology: the study of animals, including animal behavior
➢ Genetics is the study of heredity.
➢ Heredity is a biological process whereby a
parent passes certain genes onto their children
or offspring.
➢ Every child inherits genes from both of their
biological parents and these genes, in turn,
express specific traits.
➢ Some of these traits may be physical for
example hair and eye color etc (Guerrero et. al.,
2016).
➢ On the other hand, some genes may also carry
the risk of certain diseases and disorders that
may be passed on from parents to their
offspring (Campbell and Reece, 2005).
History of Genetics
Mid to Late 19th Century

➢ The origins of genetics lie in the development of theories of

evolution.
➢ It was in 1858 that the origin of species and how species
variability was developed after the research work of Charles
Darwin and Wallace.
➢ They described how new species arose via evolution and
how natural selection occurred to evolve new forms. They
however did not know the role genes had to play in this
phenomenon.
➢ Around the same time Gregor Mendel, an Austrian monk,
was performing extensive experiments on inheritance and
genetics of sweet pea plants.
➢ He described the unit of heredity as a particle that does not
change and is passed on to offspring.
➢ His work is in fact the basis of understanding the principles of
genetics even today. Consequently, Gregor Mendel is known
as the Father of Genetics.
➢ There was, however, little awareness of Gregor’s work during
this time. Also, in this period Haeckel correctly predicted that
the heredity material was in the nucleus. Miescher showed
the material in the nucleus was a nucleic acid. Chromosomes
as units carrying genetic information was also discovered
around this time.
Early 20th Century

➢ It was during this time that the Mendelian

Principles and the Chromosomal Theory of
Inheritance was established. Mendel’s work
was largely unknown.
➢ It was not until 1900 that there was a
rediscovery of the Mendelian principles and
publications began citing his work.
➢ Development of the chromosomal theory led
to advent of the field of cytogenetics.
➢ The first observations of chromosomal
abnormalities (e.g. duplications, deletions,
translocations, inversions) were reported
around this time.
Mid-20th Century

➢ It was in 1870s that the material in the nucleus was

determined to be a nucleic acid. DNA was determined to
be the genetic material between 1920s and mid-1950s.
Griffith’s experiments with a bacterial strain established the
theory.
➢ Avery, MacLeod and McCarty further showed that DNA,
not protein or RNA was the factor responsible for genetic
inheritance and evolution of the bacterial strains studied by
Griffith.
➢ It was then that Watson and Crick in their groundbreaking
work determined the structure of DNA, and others
suggested that DNA contained a genetic code. The code
was discovered in the 1960’s. Crick discovered the
process of transcription and translation and led to
formation of the “central dogma of molecular biology”.
Mid-late 20th Century and the Early 21st Century

➢ This period heralded the concept of molecular biology

and molecular genetics.
➢ Various advanced technologies made their way into
knowledge base around this time. This included
molecular biology, recombinant DNA technology, and
biotechnology methods.
➢ Methods of radiolabeling of the DNA with radioactive or
fluorescent tags for development of diagnostic and
therapeutic methods as well as research tools were
discovered during this time.
➢ Restriction enzymes were discovered and used to
construct recombinant DNA molecules that contained
foreign DNA that could be grown in abundance in
bacterial strains.
➢ Then came methods like PCR (Polymerase chain
reaction) and host of other biotechnology methods and
new applications were found in medicine,
pharmacotherapeutics as well as research.
Mid to Late 19th Century: Evolution, Natural
Selection, Particulate Inheritance and Nuclein
1858

✓ Darwin and Wallace - Role of natural

variation and natural selection in evolution
✓ 1865 - Gregor Mendel - Particulate
inheritance
✓ 1866 - Ernst Haeckel; Heredity materials
was in the nucleus
✓ 1871 - Friedrich Miescher; Material in the
nucleus was a nucleic acid
Early 20th Century: Mendelian Principles are extended, and
the Chromosomal Theory of Inheritance solidifies
✓ 1900 - Correns, de Vries, von Tschermak - Mendel’s work
is rediscovered;The age of genetics begins
✓ 1902 - Walter Sutton and Theodor Boveri - Chromosomal
Theory of Inheritance; The heredity material resides in
chromosomes
✓ 1905-1923
• Linkage
• Sex linkage
• Genetic mapping
• Number of linkage groups - number of
chromosomes
• Lethal genes
• Maternal inheritance
✓ 1908 - Hardy and Weinberg - Hardy-Weinberg principle
of genetic equilibrium
✓ 1909 - Nilsson-Ehle - Theory of quantitative traits and
quantitative genetics
Mid-20th Century: DNA is the stuff of life; the
preeminence of the Darwinian theory of evolution via
natural selection is confirmed

1928 - Griffith - Transformation experiments

1944 - Avery, MacLeod, McCarty - Definitive proof that
DNA is the genetic material
1953 - Watson and Crick - DNA structure is defined
1954-1961
DNA code is determined
Transcription is described
Replication is described
Translation is described
Operons are discovered
1932-1953
Fisher and Dobzhansky - The Modern Synthesis is
formulated
Links Darwinian evolutionary theory and Mendelian
genetics
1968
Kimura
Neutral Theory of Molecular Evolution is introduced
Mid-late 20th Century and the Early 21st Century: The Age of Molecular
Genetics; Phylogenetics Studies Intensive; The Information Age; The
Emergence of Genomics Science

✓ 1969 - ARPANET - Internet comes online

✓ 1970 - Arber and Smith - First restriction enzyme, Hind II, is isolated
✓ 1970 - Baltimore and Temin - Discovery of reverse transcriptase
✓ 1972 - Berg - First recombinant DNA molecule is constructed
✓ 1973 - Boyer and Cohen - First functional recombinant E. coli cell
produced
✓ 1977 - Sanger and Gilbert - DNA sequencing techniques are described
✓ 1977 - Sharp and Roberts - Introns discovered
✓ 1978 - Botstein - RFLPs launch the era of molecular mapping of
linkage groups
✓ 1980 - Sanger Group - First genome is sequenced, the bacteriophage
ΦX174 of E. coli
✓ 1983 - Mullis - PCR technique is discovered
✓ 1986 - Hood, Smith, Hunkapiller and Hunkapiller - First automated
DNA sequencer
✓ 1990 - US Government - Human Genome Project launched
✓ 1995 - Celera - First bacterial genome (H. influenza) is sequenced
✓ 1996
Yeast Genome Consortium
First eukaryotic genome (yeast) sequenced
✓ 2000 - Arabidopsis Genome Initiative - First flowering plant genome
(Arabidopsis thaliana) is sequenced
✓ 2001 - The human genome sequence is published
Who Was Gregor
Mendel?
➢Gregor Mendel, known as the "father of
modern genetics," was born in Austria in
1822. A monk, Mendel discovered the
basic principles of heredity through
experiments in his monastery's garden.
➢His experiments showed that the
inheritance of certain traits in pea plants
follows patterns, subsequently becoming
the foundation of moder.n genetics and
leading to the study of heredity
 Experiments and
Theories
➢ Around 1854, Mendel began to research the transmission
of hereditary traits in plant hybrids.
➢ At the time of Mendel’s studies, it was a generally
accepted fact that the hereditary traits of the offspring of
any species were merely the diluted blending of whatever
traits were present in the “parents.”
➢ It was also commonly accepted that, over generations, a
hybrid would revert to its original form, the implication of
which suggested that a hybrid could not create new forms
(Campbell and Reece, 2005).
➢ However, the results of such studies were often skewed by
the relatively short period of time during which the
experiments were conducted, whereas Mendel’s research
continued over as many as eight years (between 1856 and
1863), and involved tens of thousands of individual plants.
➢ Mendel chose to use peas for his experiments due to
their many distinct varieties, and because offspring
could be quickly and easily produced.
➢ He cross-fertilized pea plants that had clearly opposite
characteristics—tall with short, smooth with wrinkled,
those containing green seeds with those containing
yellow seeds, etc.—and, after analyzing his results,
reached two of his most important conclusions: the Law
of Segregation, which established that there are
dominant and recessive traits passed on randomly from
parents to offspring (and provided an alternative to
blending inheritance, the dominant theory of the time),
and the Law of Independent Assortment, which
established that traits were passed on independently of
other traits from parent to offspring.
➢ He also proposed that this heredity followed basic
statistical laws.
➢ Though Mendel’s experiments had been conducted
with pea plants, he put forth the theory that all living
things had such traits (Campbell and Reece, 2005).
END
STRUCTURE AND
FUNCTION OF DNA
AND RNA
Jon Paul M. Reyes,RMT,MBA,MSMLS
Program Chair
College of Medical Technology
 DNA ---------→ RNA---------→Protein
➢ This unidirectional flow equation represents the Central Dogma
(fundamental law) of molecular biology.
➢ This is the mechanism whereby inherited information is used to create
actual objects, namely enzymes and structural proteins.
➢ An exception to the central dogma is that certain viruses (retroviruses)
make DNA from RNA using the enzyme reverse transcriptase.
CENTRAL
DOGMA
Gene
Expression
➢ Genes are DNA sequences that encode
proteins (the gene product)
➢ Gene expression refers to the process
whereby the information contained in
genes begins to have effects in the cell.
➢ DNA encodes and transmits the genetic
information passed down from parents to
offspring.
 Genetic code
➢ The alphabet of the genetic code contains only
four letters (A,T,G,C).
➢ Several experiments confirmed that the genetic
code is written in 3-letter words, each of which
codes for particular amino acid.
➢ A nucleic acid word (3 nucleotide letters) is
referred to as a codon.
Nucleic acids
➢ Principle information molecule in the cell.
➢ All the genetic codes are carried out on the
nucleic acids.
➢ Nucleic acid is a linear polymer of nucleotides.
Nucleotides
A nucleotide is the basic building block of nucleic
acids.
RNA and DNA are polymers made of long chains of
nucleotides.
A nucleotide consists of a sugar molecule (either
ribose in RNA or deoxyribose in DNA) attached to a
phosphate group and a nitrogen-containing base.
The bases used in DNA are adenine (A), cytosine (C),
guanine (G), and thymine (T).
In RNA, the base uracil (U) takes the place of
thymine.
Nucleotides are the unit structure of nucleic acids.
Nucleotides composed of 3 components:
➢ Nitrogenous base (A, C, G, T or U)
➢ Pentose sugar
➢ Phosphate
Nitrogenous Bases

There are 2 types:

 Purines:
Two ring structure
Adenine (A) and Guanine (G)

 Pyrimidines:
Single ring structure
Cytosine (C) and Thymine (T) or Uracil (U).
Types of
Nucleic acids
There are 2 types of nucleic acids:
1. Deoxy-ribonucleic acid (DNA)
 Pentose Sugar is deoxyribose (no
OH at 2’ position)
 Bases are Purines (A, G) and
Pyrimidine (C, T).
2. Ribonucleic acid (RNA)
 Pentose Sugar is Ribose.
 Bases are Purines (A, G) and
Pyrimidines (C, U).
Linear Polymerization
of Nucleotides
Nucleic acids are formed of nucleotide polymers.
Nucleotides polymerize together by phospho-diester bonds via
condensation reaction.
The phospho-diester bond is formed between:
 Hydroxyl (OH) group of the sugar of one nucleotide.
 Phosphate group of other nucleotide
Polymerization of
Nucleotides
The formed polynucleotide chain is formed of:
 Negative (-ve) charged Sugar-Phosphate backbone.
 Free 5’ phosphate on one end (5’ end)
 Free 3’ hydroxyl on other end (3’ end)
 Nitrogenous bases are not in the backbone
 Attached to the backbone
 Free to pair with nitrogenous bases of other
polynucleotide chain.
Complementary Base Pairing
 It is the most important structural feature of nucleic acids
 It connects bases of one polynucleotide chain (nucleotide polymer)
with complementary bases of other chain
 Complementary bases are bonded together via:
 Double hydrogen bond between A and T (DNA), A and U (RNA)
(A═T or A═U)
 Triple H-bond between G and C in both DNA or RNA (G≡C)
DNA structure
 DNA is a double stranded molecule consists of 2
polynucleotide chains running in opposite
directions.
 Both strands are complementary to each other.
 The bases are on the inside of the molecules
and the 2 chains are joined together by double
H-bond between A and T and triple H-bond
between C and G.
 The base pairing is very specific which make the
2 strands complementary to each other.
 So each strand contain all the required
information for synthesis (replication) of a new
copy to its complementary.
RNA structure
 It is formed of linear polynucleotide
 It is generally single stranded
 The pentose sugar is Ribose
 Uracil (U) replace Thymine (T) in the
pyrimidine bases.

Although RNA is generally single stranded,

intra-molecular H-bond base pairing occur
between complementary bases on the
same molecule (secondary structure)
Types of RNA
Messenger RNA (mRNA):
 Carries genetic information copied from DNA
in the form of a series of 3-base code, each of
which specifies a particular amino acid.
Transfer RNA (tRNA):
 It is the key that read the code on the mRNA.
 Each amino acid has its own tRNA, which
binds to it and carries it to the growing end of a
polypeptide chain.
Ribosomal RNA (rRNA):
 Associated with a set of proteins to form the
ribosomes.
 These complex structures, which physically
move along the mRNA molecule, catalyze the
assembly of amino acids into protein chain.
 They also bind tRNAs that have the specific
amino acids according to the code.
RNA structure
 RNA is a single stranded polynucleotide molecule.
 It can take 3 levels of structure;
 Primary: sequence of nucleotides
 Secondary: hairpin loops (base pairing)
 Tertiary: motifs and 3D foldings
RNA structure
Transfer RNA (tRNA) structure
DNA Replication
Replication of the DNA molecule is semi-conservative, which means that each parent strand
serves as a template for a new strand and that the two (2) new DNA molecules each have one
old and one new strand.

 DNA replication requires:

 A strand of DNA to serve as a template
 Substrates - deoxyribonucleoside triphosphates
 DNA polymerase - an enzyme that brings the substrates to the DNA strand template
 A source of chemical energy to drive this synthesis reaction.
END