Origin & Importance of

Genetics
 Cyto = Cell

 Genes= Elements of heredity (carrying

inherited traits) that are transmitted from
parents to offspring during reproduction .
 Genetics= The study of biologically inherited
traits./ The study of genes.

 Genomics= The study of all the genes in an

organism to understand their molecular
organization, function, interaction and
evolutionary history.
 History:

1860s Gregor Mendel

 existence of genes and the rules governing

their transmission from generation to
generation were discovered by

 his work with garden peas represents the

beginning of what would become the science
of Genetics.
1869 Friedrich Miescher

 discovered a new type of weak acid abundant

in the nuclei of WBCs that turned out to be
the chemical substance of which genes are
made

 these “acid” would later be known (until

today) as Deoxyribonucleic acid.
1870s

 the nuclei of the male and female reproductive

cells were observed to fuse in the process of
fertilization

 later led to the discovery of thread-like objects

with characteristic “splitting behavior” inside
the nucleus that become visible in the light
microscope when stained with dyes.

 these would later be known as Chromosomes.

 1900s- Chromosomes are indeed carriers of
genes.

 1905 – William Bateson, coined the word genetics

 1920s- DNA and other various types of proteins

are present in chromosomes.

 The subunits of each strand are called

nucleotides, each of which contains any one of
four chemical constituents called bases
(Adenine; Thymine; Guanine and Cytosine).
DNA- Deoxyribonuleic acid

 Considered as the Molecule of Heredity.

 According to studies by James Watson and

Francis Crick at Cambridge University (1953),
DNA consists of two long chains of subunits
twisted around one another to form a
double-stranded helix.
 The base pairing between A and T and
between G and C is said to be complementary
base pairing; the complement of A is T, and
the complement of G is C.

 The complementary pairing in the duplex

molecule means that each base along one
strand of the DNA is matched with a base in
the opposite position on the other strand.
 Each DNA strand has a polarity or directionality, like a
chain of circus elephants linked trunk to tail.

 In this analogy, each elephant corresponds to one

nucleotide along the DNA strand.

 The “trunk” end of the strand is called the 5’ end of the

strand, and the “tail” end is called the 3’ end.

 In double stranded DNA, the paired strands are oriented in

opposite directions: The 5’end of one strand is aligned
with the 3’ end of the other.

 The oppositely oriented strands are said to be Antiparallel.

 Replication- The copying process in which a
single DNA molecule becomes two identical
molecules.

 In this process, each parental DNA strand

directs the synthesis of a new partner strand.

 For most genes, the genetic information

contained in the nucleotide sequence
specifies a particular type of protein.
 Proteins control the chemical and physical
processes of cells known as metabolism.

 Many proteins are enzymes , a term

introduced in 1878 to refer to the biological
catalysts that accelerate biochemical
reactions.
Archibald Garrod- A British physician who
studied genetic diseases caused by inherited
defects in metabolism.

 He concluded that an inherited defect in

metabolism results from an inherited defect
in an enzyme.
Example: PKU (Phenylketonuria)

 results from the absence of (or a defect in) the

enzyme Phenylalanine hydroxylase (PAH).

 When this step in the pathway is blocked,

phenylalanine accumulates.

 excess phenylalanine is broken down into harmful

metabolites that cause defects in myelin formation

 damage a child’s developing nervous system and

lead to severe mental retardation.
 1856-1863 Gregor Mendel

 realized that each parent contributed to its

progeny a number of separate and distinct
elements of heredity (“factors” as he called
them; in modern times “genes”)

 he also realized that each of these parental

factors remain unchanged as it was passed
from one generation to the next.
 He selected peas for his experiments for two
reasons:

1.) He had access to varieties that differed in

observable alternative characteristics (round
vs wrinkled seeds, yellow vs green seeds)

2.) His preliminary studies had indicated that

peas normally reproduce by self- fertilization,
in which pollen produced in a flower is used
to fertilize the eggs in the same flower. Left
alone, pea flowers always self- fertilize .
 He did a crossbreeding between two
different varieties by opening the keel petal
(which encloses the reproductive structures),
removing the immature anthers (the pollen-
producing structures) before they shed
pollen, and dust the stigma(part of the female
structure) with mature pollen taken from a
flower on a different plant.
 He established true- breeding varieties in
which the plants produced only progeny like
themselves when allowed to self- fertilize.

 (Ex. One true- breeding variety always yielded

round seeds, whereas another true- breeding
variety always yielded wrinkled seeds.)
 For his experiments, Mendel chose seven pairs of
varieties, each of which was true- breeding for a
different trait.

 The contrasting traits affected:

a. seed shape (round vs wrinkled)

b. seed color (yellow vs green)
c. flower color (purple vs white)
d. pod shape (smooth vs constricted)
e. pod color (green vs yellow)
f. Flower and pod position (axial vs terminal)
g. stem length (standard vs dwarf).
 When two varieties that differ in one or more
traits are crossed, the progeny constitute a
hybrid between the parental varieties.

 Crosses in which the parental varieties differ

in one, two or three traits of interest are
called: Monohybrid, Dihybrid and Trihybrid
respectively.
 Geneticists call the true- breeding parents
the P1 generation and the hybrid filial seeds
or plants the F1 generation.

 One pair of traits studied was round vs

wrinkled seeds.
 When pollen from a variety of plants with
wrinkled seeds was used to cross- pollinate
plants from a variety with round seeds, all of
the resulting hybrid seeds were round.

 When plants from the variety with round

seeds were used as the pollen parents and
those from the variety with wrinkled seeds as
the female parents (reciprocal cross), all of
the F1 seeds turned out to be round.
Generalizations:

1. The Traits expressed in the hybrids were

called the “Dominant traits”; while the traits
not expressed in the hybrids were called
“Recessive traits.”

2. Two plants with the same outward

appearance (for example with round seeds)
might nevertheless differ in their hereditary
makeup.
3. The normal gene encodes an enzyme,
starch-branching enzyme I (SBEI), required to
synthesize a branched chain form of starch
known as Amylopectin.

As pea seeds dry, they lose water and shrink.

Round seeds contain amylopectin and shrink
uniformly.

Wrinkled seeds lack amylopectin and shrink

irregularly. In other words, wrinkled peas
have an inborn error in starch metabolism.
 The molecular basis of the wrinkled mutation is
that the SBEI gene has become interrupted by
the insertion of aDNA sequence called a
“transposable element.”

 These are DNA sequences that are capable of

moving (transposition) from one location to
another within a chromosome or between
chromosomes.

 Many spontaneous mutations result from the

insertion of transposable elements into a gene.
 1958 Meselson & Stahl, concluded that DNA
Replication is semi-conservative

 1986 Fred Sanger, developed the PCR

 1996 Dolly the Sheep

 2000 Drosophila genome was completed

 2001 CC the cat, 1st pet cloned

 1985 Robert Sinsheimer, discussion on the

sequence the human genome
 2003 Human Genome Project, completed

“molecularizing disease and their possible cure

will have a profound impact on what patient’s
expect from medical help and the new
generation of doctors’ perception of illness”
Rheinberger (2002)
 Terminologies deduced from Mendel’s experiment:

1. Gene- hereditary determinant of a trait

2. Alleles- the different forms of a particular gene.

The alleles of the gene for seed shape are W for round
seeds and w for wrinkled seeds. W and w are alleles
because they are alternative forms of the gene for seed
shape.

Alternative alleles are typically represented by the same

letter or combination of letters, distinguished either by
upper case vs lower case or by means of superscripts
or subscripts or some other typographic identifier.
3. Genotype

 the genetic constitution of an organism or cell-

its molecular makeup. With respect to seed
shape in peas, WW, Ww and ww are examples of
the possible genotypes for the W and w alleles

 because gametes contain only one allele of

each gene, W and w are examples of genotypes
of gametes.
4. A genotype in which the members of a pair
of alleles are different, as in the Ww hybrids,
is said to be heterozygous.

A genotype in which the two alleles are alike

is said to be homozygous. A homozygous
organism may be homozygous dominant
(WW) or homozygous recessive (ww).
5. Phenotype

 observable properties of an organism including its

visible traits

 round seeds and wrinkled seeds are phenotypes

 yellow seeds and green seeds.

 The phenotype of an organism does not necessarily

imply anything about its genotype.

For example, a seed with the phenotype “round” could

have either the genotype WW or the genotype Ww.
6. A dominant trait

 expressed in the phenotype when the

genotype is either heterozygous or
homozygous.

A recessive trait

 expressed in the phenotype when a genotype

is homozygous for the alternative allele. The
presence of a dominant trait masks a
recessive trait.
7. Wild type form

most common form of a trait occurring in a

natural population. (Represented as W., ex
the round peas.)
8. Mutant form

 any form that differs from the wild type.(Ex.

The wrinkled peas).
8. Morphological trait

 one that is manifested, plainly shown, and

readily perceived by the senses. Frequently
dominant or recessive.

9. Molecular trait

 one that can be perceived only by means of

special methods(such as gel electrophoresis)that
enable differences between molecules to be
visualized. Often (but not always) co-dominant.
10. Co-dominant genes

 Alternative forms of a gene (W and w) which can

both be detected when they are present in a
cell or organism using special methods

 (e.g. gel electrophoresis showing single rapidly

migrating band of the true- breeding strain with
round seeds; and the single slowly migrating
band of the true-breeding strain with wrinkled
seeds; and the progeny of the cross which has
round seeds BUT exhibit BOTH bands ).
SALAMAT!!!!!!