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Guía de Genética
Robert Hooke (1635-1703)

• Hooke was an experimental scientist known for building a simple microscope.

• With his microscope, he observed thin slices of cork and discovered small
chambers or "cells" within them.
• He coined the term "cell" (from Latin "cellula," meaning small chamber) to describe
these structures, likening them to the rooms where monks lived.

Anton van Leeuwenhoek (1632-1723)

• Leeuwenhoek, a Dutch merchant known for his meticulous work methods,

constructed high-precision lenses.
• His lenses enabled him to observe a variety of microscopic entities, including the
strings of bees, molds, bacteria, and spermatozoa.
• Leeuwenhoek corresponded with Hooke, sharing his findings, and contributing to
the advancement of microscopy.

Matthias Schleiden (1838) and Theodor Schwann (1839):

Schleiden, a botanist, and Schwann, a zoologist, independently concluded that both
animal and plant tissues are composed of cells.
Their observations led to the formulation of the cell theory, which states that cells are the
basic structural and functional units of all living organisms.

Rudolf Virchow (1855):

• Virchow, a physiologist, proposed the principle of cell division, stating that cells
arise from pre-existing cells.
• This concept, known as "omnis cellula e cellula" (every cell from a cell), emphasized
the continuity of life through cellular reproduction.

The observation of the previous scientists allowed to formulate

the cellular theory and its postulates:

1. The cell is the basic unit of all living beings.

2. All living beings are made by cells.

3. All cells provide from preexisting cells.

4. The cells contain hereditary information that will transmit to the next
generation through cellular division.
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Cell size limits

Cells, despite their small size, exhibit intricate organization and efficient
functionality. This is due to their high surface area to volume ratio, which facilitates
rapid exchange of nutrients and waste
products with the environment through the
cell membrane or plasma membrane.
This exchange is crucial for cellular
metabolism, the process by which cells
obtain energy and perform their functions.
Larger cells struggle to meet metabolic
demands because their surface area
relative to volume is lower. Therefore,
cells remain small to ensure efficient
material exchange, including the uptake
of nutrients like oxygen and removal of waste products like carbon dioxide, through
their cell membrane or plasma membrane. This fundamental principle underscores
the importance of size in cell biology.

Cell division and reproduction

The cellular division: process through cells reproduce and a parent cell brings place to
two daughter cells. The cellular division has as purpose to allow the growth, repair
damaged cells, replace lost cells and form reproductive cells in multicellular organisms
and, in case of unicellular organisms to increase their number or amount.

cellular division of a prokaryotic cell (bacteria or archaeon) is used for asexual

reproduction. It means, from a single mother cell new genetically identical cells are
obtained.

Advantage of asexual reproduction

The speed, favoring that the population of microorganisms increases quickly and are
widely distributed in the air, ground, or even other living beings.

Disadvantages of the asexual reproduction

It produces offspring genetically identical to its parent. This leads to lack of genetic
variation in the population, decreasing its adaptation capacity so, before a change in the
environment or life conditions, all the individuals.
succumb.
Prokaryotic Cell Characteristics:

▪ Prokaryotic cells are smaller and structurally simpler compared to eukaryotic cells.
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▪ They lack a defined nucleus and contain a single circular chromosome.

There are two types of asexual reproduction Unicellular and multicellular

organism.

Binary Fission

▪ Binary fission is the primary mode of asexual reproduction in prokaryotic cells, such
as bacteria.
▪ During binary fission, the parent cell divides into two daughter cells, each
containing a copy of the DNA identical to the parent cell's chromosome.

Process of Binary Fission

▪ The binary fission process begins with the elongation of the cell and doubling of
the DNA, resulting in two identical chromosomes.
▪ Each DNA molecule attaches to the plasma membrane at two points, separating
them as the cell expands.
▪ As the cell continues to elongate, the DNA molecules are pulled to opposite ends.
▪ An invagination forms in the center of the cell, facilitating the separation of genetic
material and cellular content.
▪ Finally, a new cell wall and plasma membrane form, completing the separation of
the two daughter cells, each containing one chromosome.

Budding

▪ Budding is a form of asexual reproduction in which a new organism, known as a

bud, develops from a small outgrowth on the parent organism.
▪ The bud remains attached to the parent organism as it grows and develops,
eventually detaching to become a new, independent organism.
▪ Examples of organisms that reproduce by budding include jellyfish, Portuguese
Man o’ War, and certain species of anemones.

Vegetative Propagation
▪ Vegetative propagation is a method of asexual reproduction in plants where new
individuals develop from vegetative structures of the parent plant, such as stems,
roots, or leaves.
▪ This process allows plants to reproduce without the need for seeds and is
commonly utilized in horticulture and agriculture.
▪ Examples include the development of new plants from stem cuttings (as seen in
geraniums), tubers (like potatoes), or other specialized structures of the parent
plant.
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Fragmentation
▪ Fragmentation is a type of asexual reproduction where a new organism forms from
a fragment or piece of the original organism.
▪ In some species, such as certain sea stars and earthworms, a complete organism
can regenerate from a segment or portion of the parent organism.
▪ This process enables organisms to reproduce rapidly and colonize new habitats by
breaking apart and regenerating into new individuals.

in the case of the eukaryotic cell that characterizes by being more complex that the
prokaryote (because it has nuclear membrane, multiple chromosomes, and organelles),
there are two types of cellular division. Mitosis and Meiosis

Cell cycle and its phase

The cell cycle is the set or series of successive growth and division events that the cell goes
through throughout its life. It is divided into three phases:

Inmicy

▪ Interface
▪ mitosis
▪ cytokinesis.

▪ Interface

Interphase, derived from "inter," meaning between, and "phase," referring to a distinct
stage or period, encompasses the three main stages (G1, S, and G2) preceding cell division
in the eukaryotic cell cycle.

G1 Phase (Gap 1)

▪ During the Gap 1 phase, or G1 phase, the cell primarily focuses on growth and
duplication of organelles.
▪ It performs specific metabolic functions and accumulates materials necessary for
DNA replication in the subsequent stage.
▪ At this stage, the chromatin within the nucleus appears as a dispersed ball of yarn,
indicating the loose arrangement of DNA.

S Phase (Synthesis):

▪ In the Synthesis phase, or S phase, the cell undergoes DNA replication, duplicating
its chromatin.
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▪ As DNA is replicated, the chromatin condenses and becomes visible as

chromosomes, each consisting of two sister chromatids joined at a centromere.
▪ Replication of centrioles, structures containing microtubules important for cell
division, also occurs during this phase.

G2 Phase (Gap 2):

▪ In the Gap 2 phase, or G2 phase, the cell continues to replicate organelles and
synthesizes proteins necessary for cell division, particularly during mitosis.
▪ The cell undergoes further growth and prepares for the subsequent stages of the
cell cycle.

During interphase, cells carry out specific activities depending on their function and type.
For instance, continuously replaced cells like human skin cells spend about 22 hours in
interphase, primarily in G1 phase, before dividing. In contrast, cells like those of heart
muscle or nerve cells, once mature, remain in interphase permanently to carry out their
specialized functions, such as conducting electrical signals.

Overall, interphase is a crucial stage of the cell cycle where the cell prepares for division by
growing, replicating DNA, and synthesizing necessary components. It ensures that the cell
is adequately prepared for subsequent stages, such as mitosis, which ultimately leads to
the formation of two daughter cells.

mitosis
Mitosis: Mitosis, derived from the Greek word "mitos," meaning warp thread, is a crucial
phase of cell division following interphase. It is defined as the process by which a
progenitor cell divides to produce two daughter cells, each with the same genetic
information and functions as the parent cell. Mitosis ensures that duplicate chromosomes,
formed during the S phase of interphase, are equally distributed between the two
resulting daughter cells, thereby maintaining the parent cell's chromosome number. This
type of cell division occurs exclusively in somatic cells, which are the body's non-
reproductive cells, and plays a vital role in organismal development, growth, and the
replacement of damaged cells.

Phases of Mitosis

1. Prophase:
• In prophase, the chromatin fibers, replicated during interphase's S phase,
condense into visible chromosomes, each consisting of two identical sister
chromatids joined by a centromere.
• The nucleolus disappears, the nuclear membrane begins to disassemble,
and centrioles migrate to opposite ends of the cell.
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• Microtubules originating from centrioles form a dynamic network called the

mitotic spindle, essential for chromosome movement.

Metaphase

• During metaphase, chromosomes align along the cell's equatorial plane, or

metaphase plate, under the control of microtubules.
• This alignment ensures that each chromosome is properly positioned for
separation in the next phase.

Anaphase:
• Anaphase is characterized by the separation of sister chromatids, each
moving towards opposite ends of the cell.
• Microtubules attached to the centromeres pull the sister chromatids apart,
ensuring that each daughter cell receives a complete set of chromosomes.
Telophase
• In telophase, the microtubules disassemble, and the nuclear membrane re-
forms around each set of chromosomes.
• This re-formation of the nuclear envelope marks the completion of nuclear
division, resulting in the formation of two distinct nuclei within the cell.
• Chromosomes begin to unwind, and nucleoli reappear, preparing the
daughter cells for their respective functions.

Cytokinesis
It occurs after mitosis has concluded.
The cytoplasm divides, the cytoplasmic membrane begins to invaginate, and together with
the ring composed of actin and myosin proteins, they press the center of the cell to
separate it in two.
Each daughter cell receives a nucleus and part of the cytoplasm of the mother cell, each
one being covered by its own plasma membrane. Once cytokinesis is complete, the cell is
ready to start the interphase again, where it will grow and perform its metabolic functions.
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Regulation of the cell cycle

Due the cell cycle consists of a series of events that take place in an orderly manner, an
error in any of its stages can have serious consequences. To avoid these errors, the cell
cycle has checkpoints that allow the correction of problems and the verification that the
cycle will continue until being complete.

▪ Control points in eukaryotic cells:

▪ Control point G1.
▪ Control point G2.
▪ Control point M.
▪
G1 Checkpoint
Located near the end of the G1 phase, this checkpoint determines whether the cell will
proceed with division, delay it, or halt it entirely.
It assesses factors such as cell size, nutrient availability, and DNA damage before
committing to DNA replication in the S phase.
G2 Checkpoint
Positioned at the transition between the G2 phase and mitosis, this checkpoint confirms
that all DNA has been accurately replicated during the S phase.
It ensures that the cell has adequately grown and synthesized the necessary proteins for
mitosis to proceed.
M Checkpoint
Situated in the mitotic stage, specifically at the end of metaphase, this checkpoint verifies
the proper attachment of chromosomes to the mitotic spindle.
It ensures that all chromosomes are aligned at the metaphase plate and ready for
separation into chromatids during anaphase.
If errors are detected, cell division halts until the attachment of chromosomes to spindle
fibers is corrected, preventing potential chromosomal abnormalities in the resulting
daughter cells.

Cyclines
▪ Family of proteins involved in the regulation of the cell cycle.

▪ In cells, the levels of cyclins oscillate, setting the rate of cell division and keeping
the cell in the necessary phase of the cycle. Thus, there are different types of
cyclins that mark the time of initiation of DNA synthesis and the beginning of
mitosis.
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▪ In addition to cyclins, there is another group called kinases, which add a phosphate
group to other proteins to stimulate or inhibit their function.

▪ The binding of cyclins with kinases forms the complex cyclin-dependent protein
kinases or CDKs.
Cancer

▪ A disease in which the growth and division of cells is not regulated and occurs in an
uncontrolled way.

▪ Cancer cells cannot communicate with other healthy cells and are unable to
perform their normal metabolic functions.

▪ Cancer cells quickly make more cells like themselves, clumping together and
forming tumors.

▪ Cancer cells generate their own growth factors and substances that stimulate cells
to divide and grow, which promote the formation of new blood vessels, that is,
angiogenesis. To receive nutrients and oxygen to continue growing.

▪ As cancer cells have impaired adhesion, they invade healthy tissues and organs and
eventually spread throughout the body through the circulatory and lymphatic
systems. This is known as metastasis.

Meiosis

Meiosis: Meiosis is the process through which gametes, such as eggs and sperm, are
produced in organisms that reproduce sexually. Unlike mitosis, which results in two
identical diploid daughter cells, meiosis involves two consecutive cell divisions to generate
four haploid daughter cells, each with half the number of chromosomes as the parent cell.

Meiosis I:
1. Prophase I: During this phase, homologous chromosomes pair up and undergo a
process called synapsis, where they exchange genetic material through genetic
recombination. This increases genetic diversity in the resulting gametes.
2. Metaphase I: Homologous chromosome pairs line up at the cell's equator.
3. Anaphase I: Homologous chromosomes separate and move to opposite poles of
the cell, halving the number of chromosomes.
4. Telophase I: The cell divides into two daughter cells, each with a set of
chromosomes.
Meiosis II:
1. Prophase II: Centrioles duplicate, but there is no replication of genetic material.
2. Metaphase II: Individual chromosomes line up along the cell's equator.
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3. Anaphase II: Sister chromatids separate and move to opposite poles of the cell.
4. Telophase II: The cell divides into four haploid daughter cells, each genetically
distinct from the parent cell and from each other.

Importance of Meiosis
Meiosis plays a vital role in sexual reproduction by ensuring genetic diversity. Genetic
recombination during synapsis and the random distribution of chromosomes result in
gametes with unique genetic combinations. This genetic variability is essential for the
survival and adaptation of populations to changing environments, as it provides a diverse
pool of genetic traits for natural selection to act upon. Ultimately, meiosis contributes to
the generation of offspring with diverse genetic characteristics, promoting species diversity
and evolutionary success.

Mother cells (Stem Cells)

Stem cells, with their remarkable ability to differentiate into various specialized cell types
and repair damaged tissues, offer significant potential for medical applications. Let's
organize the information for clarity.

Types of Stem Cells:

Embryonic Stem Cells:

• Derived from mammalian embryos at the blastocyst stage.
• Pluripotent: Can differentiate into any cell type in the body.
• Highly versatile and hold great promise for regenerative medicine.
Germinal Stem Cells:
• Found in the gonadal crest of the fetus.
• Pluripotent: Can differentiate into various cell types.
• Play a crucial role in the development of reproductive tissues.
Adult Stem Cells:
• Originating from adult tissues.
• Multipotent: Can differentiate into specific cell types within their tissue of
origin.
• More specialized compared to embryonic stem cells.