Lesson 1: Introduction to Cytogenetics Discovery of the Cell and the Nucleus

Branches of Genetics Jan Purkinje: He discovered and described

● Classical genetics - refers to the the large brain cells found in the middle
study of the laws of hereditary layer of the cerebellum (Purkinje cells).
transmission in living organisms.
● Population genetics - the study of William Harvey: He coined the term
the genetic variation within and epigenesis to counter the notion that any
between populations of a species. tiny adult structures in eggs or sperm simply
● Molecular genetics - is the study of grew bigger during embryonic gestation.
the relationship between the
structure and function of
chromosomes and the genetic
information encoded in DNA.
● Cytogenetics - It focuses on the
study of chromosomes, their ● Preformationism was a theory of
structure, function, and behavior in embryological development popular
relation to heredity and disease. in the 17th and 18th centuries.

Early History of Genetics and Theories ● It posited that organisms, including

of Inheritance humans, develop from miniature
Hippocrates - he proposed that "humors" versions of themselves that exist
served as bearers of traits. fully formed within either the egg
(ovism) or the sperm (spermism)
This theory posits that human health and before fertilization.
temperament are governed by four bodily
fluids. or "humors" blood, phlegm, yellow
bile, and black bile. Early History of Genetics and Theories
of Inheritance
● Health: balance humors Matthias Schleiden and Theodor
● Disease: imbalance humiors Schwann: In 1838 Schleiden defined the
cell as the basic unit of plant structure,
800-1000 BC - Domestication of animal and and a year later Schwann defined the cell
plant as the basic unit of animal structure.

Charles Darwin: Formulated the theory of

Natural Selection/Evolution
- It is a mechanism of evolution.
- Organisms that are more adapted to
their environment are more likely to
survive and pass on the genes that
aided their success.
Gregor Mendel: He developed three
principles of inheritance that described the Purpose is - start with Purpose is
transmission of genetic traits, before anyone cellular a single sexual
knew genes existed. proliferation parent cell reproduction
- He further concluded that each trait
in pea plants is controlled by a pair Produces 2 Produces 4
of factors (which we now call genes) diploid haploid
daughter daughter
and that members of a gene pair cells cells
separate from each other during.
Chromosom Chromosom
Chromosome Theory of Inheritance e number e number is
Heredity: It refers to the process by which remains the halved in
traits are passed from parents to their same each
daughter cell
offspring through genes.
Genetic
variation Genetic
The chromosomes were contributed to the doesn't variation
individual by the change increased

Diploid number (2n): It refers to the total Genetic variation refers to the differences
number of chromosomes in a diploid cell, in the genetic makeup (genotypes) among
which contains two complete sets of individuals within a population.
chromosomes.
● Chromosomes in diploid cells exist Mutations refers to any change in the DNA
in pairs called homologous sequence of an organism's genome
chromosomes
● Chromosomes behave differently Allele: It is a variant of gene controlling the
during the two forms of cell division, same trait, usually occur in pairs.
mitosis and meiosis.
Phenotype: It is the set of observable
(2 forms of cell division) characteristics or traits of an organism.
Mitosis: is a type of cell division for somatic
cells and for the asexual reproduction of Genotype: It refers to the genetic makeup
unicellular eukaryotic cells. of an organism; it is the set of genes that it
Meiosis: is the type of cell division for the carries.
production of gametes in sexual
reproduction.
Mitosis Same Meiosis

4 stages in - produce 8 stages in

total (plus new cells total (plus
interphase) interphase)
- similar
-happens in basic steps Happens in
somatic cells germ cells
 (messenger RNA) is used to
synthesize a specific protein.

- The linear sequence of amino acids

determines a protein's structure and
chemical action.

- A protein's biochemical or structural

properties significantly influence the
production of a specific phenotype.

Structure of DNA and RNA

James Watson and Francis Crick Proteins and Biological Function
- described the structure of DNA ● Proteins are large, complex
molecules that play many critical
Double Helix: They proposed that DNA is roles in the body.
composed of two strands that coil around - They are composed of amino acids
each other to form a double helix. and are essential for the structure,
function, and regulation of the body's
Base Pairing: The strands are held tissues and organs.
together by hydrogen bonds between paired
bases. ● Enzymes largest category of
proteins, serve as biological
Antiparallel Strands: The two strands run catalysts
in opposite directions. - Other types are critical components
of cells and organisms

Proteins and Biological Function

Some carry essential molecules
● Hemoglobin - oxygen-binding
molecule) in RBCs
● Insulin - plays a central role in
regulating blood glucose levels.
● Actin - are a major component of
the cytoskeleton, which provides
structural support to the cell.
Gene Expression: From DNA to Phenotype ● Myosin - a family of motor proteins
● Transcription the process by which that play fundamental roles in
the genetic information in DNA is various cellular processes, primarily
copied into a complementary RNA in muscle contraction.
strand.
● Translation the process by which Recombinant DNA Technology
the genetic code carried by mRNA - aka Genetic engineering or gene
cloning, involves combining DNA
 from different sources to create new ● Matthias Schleiden (1838) -
genetic combinations. German Botanists discovered the
Restriction enzyme, aka a restriction cells in plants. "All plants are
endonuclease, is a protein that cuts DNA at composed of cells”
specific sequences. ● Theodor Schwann (1838)
discovered that animals were made
Biotechnology of cells.
Pharmaceutical production - modified
plants to produce pharmaceutical products. ● Rudolf Virchow (1855)
Ex: Bacterial genes were added to the "Omnis cellula e cellula" - every cell
periwinkle plant to enhance the production originates from another existing cell.
of vinblastine. ● Virchow's work on cell division laid
Paper production - modified characteristics the groundwork for understanding
of trees for higher yield of paper production. how cells multiply and proliferate.
Ex: are poplar trees.

Lignin is a complex polymer in trees that is CELL THEORY

removed from wood to make paper through All things are made of cells.
a kraft process.
Cells are the basic unit of structure and
function in an organism.

Cells come from the reproduction of existing

cells (cell division)

● Somatic cell refers to any cell of the

body except sperm cells and egg
cells. - somatic cells have two copies
of the genome

● Reproductive cells are specialized

Lesson 2: The Cell cells involved in sexual reproduction.
History of Cells and The Cell Theory - reproductive cells have one copy of
● Robert Hooke (1665) - he uses an the genome
improvised microscope to inspect a
cork (plant).
● Anton van Leeuwenhoek (1673) In CELL DIVERSITY
the water from ponds, he observed a Cells within the same organism show
variety of microorganisms, which he enormous Diversity in..
called "animalcules” - size
● Robert Brown (1833) - Scottish - shape
botanist, is credited with the - internal organization
discovery of the cell nucleus
CELL SIZE
Female egg - largest cell in human body
Most cells are visible only with a microscope

CELL SHAPE
Diversity of form reflects a diversity of
function. The shape of a cell depends on its
function.

Prokaryotic Similarities Eukaryotic Cell Structures and Organelles

cells cells Plasma membrane - the boundary of the
cell.
Small and Have cell Large and - responsible for controlling the
simple (plasma) complex movement of materials in and out of
membrane
the cells
0.1 to 5.0 µm 10 to 100
in size Have µm in size - the glycocalyx provides biochemical
cytoplasm identity at the surface of cells, to
Unicellular Unicellular/ prevent the entry of pathogens into
Have multicellular the cell mophobiped
Nucleus is ribosomes - most animal cells have glycocalyx or
absent Nucleus is cell coat
Have DNA present
Circular DNA
Linear DNA
Single
haploid (n) Paired
chromosome diploid (2n)
chromosome
Lack
membrane- Has
bound membrane-b
organelles ound
organelles
Reproduce
both sexually Mostly
& asexually reproduce
sexually Cytoplasm a gel-like substance found
Cell division inside cells that contains all the contents of
by binary Cell division cells except the nucleus.
fission by mitosis
Cytosol is a fluid medium in which
Ex. bacteria Ex. plant,
cytoplasmic structures are embedded.
and archaea animal cells,
cells including
humans
 ORGANELLES: Endoplasmic Reticulum
- Network of hollow membrane
tubules
- Connect to nuclear envelope and
cell membrane
- Functions in synthesis of cell
products and transport
- Complex network of transport
channel

Smooth ER - is a membrane-bound
Nucleus - a membrane bound structure that organelle found in eukaryotic cells,
houses the DNA, which is complex with particularly abundant in cells involved in
protein into thin fibers. lipid metabolism.

Functions: Lipid Synthesis:

- Responsible for the genetic and Detoxification:
metabolic control Calcium Storage:
- Directs the production of proteins in
the cell. Rough ER - is a membrane-bound
- Governs all major activities and organelle in eukaryotic cells with a rough
functions in the cell appearance due to the presence of
ribosomes attached to its outer surface.
Nuclear Envelope - They are then threaded into the
- Double membrane surrounding interior of the rough ER to be
nucleus. modified and transported protein
- Also called nuclear membrane synthesis
- Contain nuclear pores for materials - Contains ribosomes and releases
to enter and leave the nucleus. newly made proteins from the cell

Organelles: Mitochondria - are

membrane-bound organelles found in the
cytoplasm of eukaryotic cells.
- They are often referred to as the
"powerhouses" of the cell
- It is the source of energy from food
is captured and stored in the bonds
Nucleolus - present inside the nucleus, is
present in a molecule called
where ribosomal RNA is synthesized
adenosine triphosphate (ATP)
In prokaryotes, the genetic material is
Organelles: Lysosomes - serve as
compacted into an unenclosed
recycling center.
region(nucleoid)
Digestive enzyme: withstand stretching and
Digestion of Worn-out Organelles: compression
Breakdown of Macromolecules: - They also help anchor one cell to
Cellular Waste Management: another.

- Lysosomes are spherical, single- 3. Intermediate filaments

membrane bags made of lipids and - they have diameters intermediate
proteins that hold digestive enzymes between those of microtubules and
inside. microfilaments
- They are composed of a family of
Organelles: Centrosome - is an organelle related proteins known as keratins,
that serves as the main microtubule- vimentins, desmins,
organizing center in animal cells. neurofilaments, lamins, and
- centrosomes duplicate during the S others, depending on the cell type.
phase of the cell cycle, ensuring that
each daughter cell receives a pair of Peroxisomes - similar to lysosomes in that
centrioles. they are membrane bounded sacs which
contain enzymes.
Centrioles - cylindrical structures within the
centrosome, composed of microtubules
- play a crucial role in organizing the
microtubules that form the spindle
apparatus during cell division.

Organelles: Cytoskeleton - a structure

gives the cell its shape and helps
organize the cell's parts. In addition, they
provide a basis for movement and cell
division.

3 major types of elements/types

1. Microtubules
- long and hollow
Organelles: Endoplasmic reticulum,
- It provides many cellular movements
mitochondria, lysosomes, centrosome,
- Composed of a pair of protein
cytoskeleton.
called tubulin
- They form the cilia, which are
Branches of genetics: classical genetics,
hair-like structures
population genetics, molecular genetics,
cytogenetics.
2. Microfilaments
- long, thin rods composed of many
3types of cytoskeleton: microtubules,
molecules of the protein actin
microfilaments, intermediate filaments
- Solid and narrower than
microtubules, they enable cells to
2forms of cell division: mitosis, meiosis