LECTURE 1: INTRODUCTION TO GENETICS GENETICS

1ST SEMESTER | AY 2024-2025 | PROF.

COURSE OUTLINE helix always consist of A=T and

I.​ History of Genetics G=C base pairs.
II.​ Genetics Progressed from
Mendel to DNA HISTORY OF GENETICS
III.​ Discovery of the Double Helix
8000 - 1000 B.C.
IV.​ Gene Expression: From DNA to
Horses, camels, oxen, and wolves were
Phenotype
V.​ Development of Recombinant domesticated.
DNA Technology -​ Selective breeding of species soon
VI.​ Impact of Biotechnology followed
Expansion
VII.​ Model Organisms and Genetic
5000 B.C.
Studies
VIII.​ Living in the Age of Genetics Cultivation of plants (maize, wheat, rice,
and the date palm).

KEY TERMS
HIPPOCRATIC SCHOOL OF MEDICINE -
★​ Active “Humors” - bearers of (ON THE SEED)
hereditary traits.
-​ Active “humors” in various body
○​ Can be healthy or diseases.
parts were the bearers of hereditary
★​ Gregor Mendel - Father of
Genetics. traits.
★​ Chromosome theory of -​ Drawn from various parts of the
Inheritance - uniting Mendel and male body to the semen and
Meiosis. passed onto offspring.
★​ Homologous Chromosomes - -​ These humors could be healthy or
chromosomes in diploid cells exist
diseases (congenital disorders or
in pairs.
deformities)
★​ Diploid cell (2N) - has two
complete sets of chromosomes. -​ Individuals can also alter these
★​ Haploid cell (n) - the presence of humors.
a single set of chromosomes in
an organism's cells.
★​ Rings of the ladder in the double

GENETICS LECTURE 1: INTRODUCTION TO GENETICS 1

LECTURE 1: INTRODUCTION TO GENETICS GENETICS
1ST SEMESTER | AY 2024-2025 | PROF.

ARISTOTLE EXTENDED HIPPOCRATES’ from pre-existing cells.

THINKING
The idea of spontaneous
-​ Male semen contained a “vital
generation
heat” with the capacity to produce
Creation of living
offspring of the same form as the Aristotle
organisms from nonliving
parent. organisms. Disapproved
-​ This heat cooked and shaped the by Louis Pasteur.
menstrual blood produced by the
Charles Origin of Species & Theory
female - a physical substance that Darwin of Natural Selection
gave rise to an offspring.
He published a paper
showing how traits were
Before the 1800s neither sperm nor eggs
passed from generation to
had been observed in mammals generation in pea plants.
It became clear that
Gregor
1600S-1850S: THE DAWN OF hereditary development
Mendel
MODERN BIOLOGY was dependent on genetic
information residing in
Theory of Epigenesis genes in chromosomes →
An organism develops chromosomal theory of
from the fertilized egg inheritance.
William
through a succession of
Harvey
developmental events
that eventually transform GENETICS PROGRESSED FROM
the egg into → adult. MENDEL TO DNA

Theory of Preformation
CHROMOSOME THEORY OF
Giuseppe
A fertilized egg contains a INHERITANCE
degli
complete miniature adult In most eukaryotes, members have a
Aromatar
called a homunculus. characteristic number of chromosomes

Cell theory called the diploid number (2N)

Schleiden
All organisms are -​ In humans, diploid number of 46
and
composed of basic
Schwann
structural units derived

GENETICS LECTURE 1: INTRODUCTION TO GENETICS 2

LECTURE 1: INTRODUCTION TO GENETICS GENETICS
1ST SEMESTER | AY 2024-2025 | PROF.

-​ Chromosomes in diploid cells exist DISCOVERY OF THE DOUBLE HELIX

in pairs, called homologous
Watson Describe the structure of
chromosomes
and Crick DNA

During meiosis, cells receive only one

EACH LINEAR STRAND OF THE HELIX IS
chromosome from each chromosome
MADE UP OF
pair, and the resulting number of
1.​ Sugar
chromosomes is called haploid number
2.​ Phosphate
(n).
3.​ Nucleotides

Formulated the
IN DNA, THERE ARE 4 NUCLEOTIDES
chromosome theory of
inheritance. 1.​ Adenine
Walter
❖​ Inherited traits are 2.​ Guanine
Sutton and
controlled by genes 3.​ Thymine
Theodor
residing on 4.​ Cytosine
Bevori
chromosomes
faithfully transmitted
The two strands of DNA are exact
through gametes.
complements of one another so that the
rings of the ladder in the double helix
TERMINOLOGIES
always consist of A=T and G=C base
➔​ Mutation - any heritable change in pairs.
the DNA sequence and is the
source of all genetic variation. GENE EXPRESSION: FROM DNA TO
➔​ Alleles - alternative forms of a PHENOTYPE
gene
➔​ DNA Replication (nucleus) - DNA to
➔​ Phenotype - Different alleles may
DNA
produce differences in the
➔​ DNA Transcription (nucleus) - DNA
observable features
to mRNA
➔​ Genotype - set of alleles for a given
trait carried by an organism

GENETICS LECTURE 1: INTRODUCTION TO GENETICS 3

LECTURE 1: INTRODUCTION TO GENETICS GENETICS
1ST SEMESTER | AY 2024-2025 | PROF.

➔​ mRNA Translation (cytoplasm IMPACT OF BIOTECHNOLOGY

particularly in the ribosomes) - EXPANSION
mRNA to proteins.
BIOTECHNOLOGY
Use of recombinant DNA technology and
DEVELOPMENT OF RECOMBINANT other molecular techniques to use
DNA TECHNOLOGY products. Has revolutionized many
1970s aspects of everyday life.
Researchers discovered that restriction
enzymes could be used to cut any PRODUCTS OF THIS TECHNOLOGY CAN
organism’s DNA at specific nucleotide NOW BE FOUND IN:
sequences. ➔​ Supermarkets
-​ Through vectors (carrier DNA ➔​ Healthcare
molecules) - insert the DNA ➔​ Court system
fragments produced by these ➔​ Agriculture
enzymes, producing recombinant ◆​ Genetically modified crop
DNA molecules. plants - resistance to
-​ When transferred into bacterial herbicides, insects, and
cells, thousands of copies or clones genes for nutritional
of the combined vector and DNA enhancement
fragments are produced during
reproduction. TRANSGENIC ORGANISM
Produced through transfer of heritable
GENOME traits across species using recombinant
Complete haploid DNA content of specific DNA technology.
organisms. -​ The mid-1990s: Herbicide-resistant
corn and soybeans were first
planted
-​ >70% of the processed food in the
U.S. contains ingredients from
transgenic crops

GENETICS LECTURE 1: INTRODUCTION TO GENETICS 4

LECTURE 1: INTRODUCTION TO GENETICS GENETICS
1ST SEMESTER | AY 2024-2025 | PROF.

BIOTECHNOLOGY IN GENETICS AND

CLONING LIVESTOCK MEDICINE
New methods for this practice have ➔​ >10 million children or adults suffer
changed the way we use livestock such from some form of genetic disorder
as cattle and sheep. in the U.S.
-​ 1996: Dolly the sheep was cloned ➔​ Every child-bearing couple faces
through Nuclear Transfer approximately a 3% risk of having a
-​ Makes it possible to produce child with a genetic anomaly.
dozens or hundreds of genetically ➔​ The molecular basis for hundreds of
identical offspring with desirable genetic disorders is now known
traits and has many applications in ◆​ Many of these genes have
agriculture, sports, and medicine. been mapped, isolated, and
cloned
HUMAN PROTEINS WITH MEDICAL USE ➔​ Biotechnology-derived Genetic
Through gene transfer, transgenic Testing
animals now synthesize these therapeutic ◆​ Now available to perform
proteins. prenatal diagnosis of
-​ 2009: Anticlotting protein derived heritable disorders
from transgenic goats was ◆​ To test parents for their status
approved by U.S. FDA for use in the as “carriers” of >100 inherited
United States. disorders
-​ Other human proteins from ◆​ Newer methods are currently
transgenic animals are now being being developed to offer:
used in clinical trials to treat several ●​ Possibility of scanning
diseases. an entire genome to
establish an individual’s
risk of developing a
genetic disorder or
having an affected
child

GENETICS LECTURE 1: INTRODUCTION TO GENETICS 5

LECTURE 1: INTRODUCTION TO GENETICS GENETICS
1ST SEMESTER | AY 2024-2025 | PROF.

◆​ Raises ethical concerns that -​ Viruses (T phages and lambda

have yet to be resolved. phage)
-​ Microorganisms (The bacterium
MODEL ORGANISMS AND GENETIC Escherichia coli and the yeast

STUDIES Saccharomyces cerevisiae)

AFTER REDISCOVERY OF MENDEL’S

MODEL ORGANISMS AND HUMAN
WORK IN 1900
Research using a wide range of
DISEASES

organisms confirmed that the principle of The development of recombinant DNA

inheritance he described was of universal technology and the results of genome

significance among plants and animals. sequencing have confirmed that all life
has a common origin.

Geneticists came to focus on a small -​ Because of this, genes with similar

number of organisms: functions in different organisms

-​ Fruit fly (Drosophila melanogaster) tend to be similar or identical in

-​ Mouse (Mus musculus) structure and nucleotide sequence.

-​ Much of what scientists learn by

WHY USE THE FRUIT FLY AND THE MOUSE? studying the genetics of model
organisms can therefore be
1.​ Genetic mechanisms were the
applied to humans as the basis for
same in most organisms
understanding and treating human
2.​ Easy to grow
diseases.
3.​ Had relatively short life cycles
4.​ Produces many offspring
By creating transgenic organisms, by
5.​ Genetic analysis was fairly
transferring genes between species,
straightforward
scientists are now enabled to develop
models of human diseases in organisms
MODERN SET OF GENETIC MODEL
ranging from bacteria to fungi, plants,
ORGANISMS
and animals.
Gradually, other species were added to
the collection of modern organisms:

GENETICS LECTURE 1: INTRODUCTION TO GENETICS 6

LECTURE 1: INTRODUCTION TO GENETICS GENETICS
1ST SEMESTER | AY 2024-2025 | PROF.

E. COLI AND COLON CANCER

The basic steps of DNA repair (a process The impact of this discipline on society
that is defective in some forms of colon has never been profound.
cancer) are the same in both organisms -​ Genetics and its applications in
and a gene involved in DNA repair (mutL biotechnology are developing
in E. coli and MLH1 in humans) is found in much faster than the social
both organisms. conventions, public policies, and
laws required to regulate their use.
Advantage of E. coli:
-​ easier to grow (cells divide every 20 As a society, we are grappling with a host
minutes) of sensitive genetics-related issues
-​ researchers can easily create and including:
study new mutations in the -​ Concerns about prenatal testing
bacterial mutL gene to understand -​ Genetic discrimination
it further -​ Ownership of genes
-​ Access and safety of gene therapy
Knowledge from this may eventually lead -​ Genetic Privacy
to the development of drugs and other
therapies to treat colon cancer in
humans

LIVING IN THE AGE OF GENETICS

No other scientific discipline has
experienced the explosion of information
generated by the discoveries in genetics.
-​ The impact has been more
apparent, especially in the list of
Nobel Prizes related to genetics

GENETICS LECTURE 1: INTRODUCTION TO GENETICS 7