Topic 4a

Asexual reproduction

With this type of reproduction the parent is only one and

transmits all his genes to the offspring which is an exact
copy, a clone

The numerical growth rate of organisms using this type of

reproduction is rapid and is favored in stable favorable
environments

The limit of this type of reproduction is that it does not

allow to develop much variability
Examples of asexual reproduction

1) Reproduction by Splitting (e.g. cutting, sea

anemone, amoeba, ...)

2) Gemmation (fragmentation of the body into

different pieces from which new individuals
develop)

3) Parthenogenesis (development of unfertilized eggs): asexual

form of reproduction, in which females produce eggs that develop
without fertilization. Parthenogenesis is observed in some
invertebrates, some fish, amphibians and reptiles, and in various
plants. There are no known cases of parthenogenesis in mammals)
Sexual reproduction

This type of reproduction occurs by fusion of two haploid

gametes to form a diploid zygote. The speed of growth is
slower because it depends on the meeting and interaction
of two parents.

This type of reproduction allows to develop a great genetic

variability, increases the chances of survival with varying
environmental conditions.

In order for there to be variability, the crossing of gametes

of different individuals is necessary, this has led to the
appearance of egg and sperm
It is thought that the great evolutionary success of
eukaryotes is due largely to sexual reproduction

The great success of sexual reproduction has led to the

evolution of meiosis, the formation of extremely
specialized gametes that unite during fertilization:

egg: large gamete and free of motility

sperm: gamete very small and rich in motility

and the specialization of gamete producers that led to

the appearance of the two genders, male and female
Sexual reproduction can occur in various ways:
1 - External fertilization :
Eggs and sperm are released into the environment, usually
water, which sperm use to swim to egg cells.
Females (usually fish and amphibians) lay eggs and the
male releases sperm in the same area.

For external fertilization it is necessary the presence of

humid environments, the synchronous release of gametes
(induced by environmental stimuli or pheromones);
a large number of zygotes are formed, the survival rate is
low, but parental care is not needed
2 - Internal fertilization
It occurs inside the body of the female; occurs in mammals,
insects, birds, reptiles

Requires cooperative mating

behavior and sophisticated
reproductive systems with
copulatory organs

Fewer zygotes are formed but

survival is greatly increased,
requiring protection of the embryo and parental care
 According to the mode of development of the embryo,
internal fertilization organisms can be divided into:

• Oviparous: fertilized eggs are deposited outside (some

fish, most reptiles, all birds)

• Ovoviviparous: fertilized eggs are stored inside the

mother but get nourishment only from the yolk (some
fish, some reptiles)

• Viviparous: embryos develop inside the mother, from

which they obtain nourishment (most cartilaginous fish,
most mammals)
In the human species, fertilization takes place in the
fallopian tubes, the sperm binds to the zona
pellucida surrounding the oocyte II and the two
gametes fuse to form the zygote.

The egg initiates meiosis II and segregates half of

the remaining sister chromatids into a polar
globule.
The two haploid pronuclei, male and female,
migrate towards each other in such a way that
the first mitotic spindle attaches to a diploid
genome (zygotic)
In the first 3/4 days, a rapid series of mitosis produces
eight small cells (blastomeres) that adhere to each
other forming the morula and losing totipotency.
The transition from egg to embryo is one of the most
dramatic and complex cellular transformations in
human biology
At the stage of 32 cells, a fluid-filled cavity
(blastocele) begins to form in the embryo,
which continues to grow as the embryo
matures into blastocysts.

Once in the uterus, the blastocyst

detaches from the zona pellucida to bind
to the uterine wall on which the embryo
continues to develop.

trofectoderma
blastocele cavity

The blastocyst (32/64 cells, from 4 to

ICM
13 days) is formed by two tissues:
trophectoderm and ICM (Inner Cell
Mass) also called embryonic nodule;
The first will form tissues to nourish
the fetus (placenta), the second will
form the embryo
 embryonic disc
yolk sac
Trofectoderma (future embryo)
and ICM separate corion
while the
development of
the embryo amnios
continues

~3 weeks ~ 4 weeks
FOETUS
Topic 4b
Mendel and the laws of
genetics

Mendel's great merit was to

have incorporated into science
the wealth of empirical
knowledge that was known to
farmers but had no scientific Mendel in the Augustinian Monastery in 1865

basis.

In 1865 Mendel presented his

experimental results at a congress of
the Brünn Natural History Society.

The scientific article had been

published in 1866, but for almost 35
years no one seemed to have noticed.
Mendel's vegetable garden
Ploidy – refers to the number of copies of chromosomes in the cell
• haploid: one copy of each chromosome (n)
• Diploid: two copies of each chromosome (2N)
A DIPLOID organism receives a chromosome from the
female parent (= maternal) and a chromosome from
the male parent (= paternal)

Chromosome

Karyotype
A pair of corresponding
chromosomes, one of
maternal origin and the other
paternal, form a pair of
homologous chromosomes
 Genetic Terminology
Gene: DNA sequence that,
directly or indirectly, allows the
synthesis of a certain protein

Locus: specific location of a

gene on the chromosome

Allele: alternative form of a

gene

If the alleles are equal, the individual

is homozygous, if the alleles are
different, the individual is
heterozygous
 Genotype: the specific alleles or genetic
constitution of in organism

Phenotype: the observable characteristics of an

organism that are genetically controlled

• The genetic material is carried by

chromosomes that are formed by
long DNA molecules

• DNA segments code for

protein expression

• The function of proteins is to

give the phenotypes of an
organism proteine RNA DNA
 A pure line is formed
from homozygous organisms
for a given character

Mendel's first law is the

law of dominance

By crossing two pure lines of plants with V V

purple flowers and white flowers, in the first
generation only purple flowered plants are
obtained.
b Vb Vb
Mendel was able to understand that those
purple flowered plants were different from
those of the pure starting line, in fact the b Vb Vb
white character had not disappeared but only
could not manifest itself in the phenotype
 V b
Mendel's second law is
the law of segregation. V VV Vb

b Vb bb
By crossing the obtained purple
flowered plants, Mendel
managed to obtain not only
purple-flowered plants but also
white-flowered plants with a
ratio of 3 purple / 1 white
The white character had
therefore not disappeared but
only could not manifest itself in
the phenotype
 Hereditary transmission of Mendelian
characters
Dominant: every character that is also
expressed in the heterozygote is dominant;
that is, in the case of disease, in which only
one copy of the defective gene is sufficient to
express the affected phenotype
Recessive: any character that expresses itself
only in the homozygote is recessive; that is, in
the case of disease, in which both copies of
the defective gene must be present to express
an affected phenotype
In some cases the dominance of a character is incomplete: this happens when the
heterozygote expresses a phenotype intermediate from that of the two homozygous
states, e.g. in the case of some plants with red flowers, white flowers and pink
flowers, etc.
R r

X R RR Rr
RR rr
r Rr rr
F1 Rr
F2 generation
F1 When a character is carried by a
pair of alleles, a discontinuous
inheritance originates.
If the color of the skin depended
only on a character with a pair of
alleles we could only have white or
RR Rr Rr rr gray or black
Most of the complex characters that give rise to
manifestations in the phenotype with many nuances, for
example stature, skin color, eyes and hair, are always
characters controlled by multiple genes
It is possible to get an idea of the number of genes
involved using the formula (a+b)n

Height is a
multifactori
al trait.
 Codominance
Codominance occurs when two
AA x BB
alleles are responsible for the
production of two distinct and
clearly evident products in the
phenotype.
A B
The distinct gene expression of
both alleles in a heterozygote is
called codominance.

An example of codominance is
given by the blood type of the AB0 AB
system
 System AB0 (Polyallelia case)
There are four possible phenotypes:
Group A (A antigen)
Group B (B antigen)
Group AB (A and B antigens)
Group 0 (neither A nor B)

There are six possible genotypes:

AA A0 BB B0
AB 00
 AB0 System
The first blood groups identified are those of
the AB0 system, described by Landsteiner in
1901
 Twin studies

Twins are a "nature experiment" that

allows you to separately assess the
influence in the individual of genes
and environment

Monozygotic twins provide an

opportunity to compare
relatives with identical
genotype who may or may not
have same environment
Topic 4c
Evolution is the process that led to the appearance of the vast
number of species of living beings that inhabit the Earth

The process of evolution is based on natural selection acting on

mutations

Mutations are changes in DNA sequence or amount of DNA

Regarding the cause, mutations can be:

Spontaneous: due to errors during normal cell operation

Induced: due to exposure to radiation or chemical mutagens
Mutations can be:

Genes : those that depend on the modification of the

nucleotide sequence of a single gene

Genomics : those that affect

the whole genome, in the
sense that there is an
alteration in the number of
chromosomes

Chromosomal : those that

alter the structure of one or
more chromosomes
Mutations that can be hereditary, i.e. those affecting germ cells, are of
interest to genetics.
 GENIC (point-like) mutation is that which depends on the
modification of the nucleotide sequence of a single gene

Substitution One nucleotide is replaced

In the b-globin gene, the
with another GAA→GUA point mutation that
involves replacing a glutamic acid
Deletion One or more nucleotides with a valine) underlies sickle cell
are removed disease
Insertion One or more nucleotides
are added
Duplication Some nucleotides repeated
within a gene

Mutazioni Frame Shift

3’CAG-TAC -TGA-ACA-CCA-TCA-ACT-5’ 3’CAG-TAC-TGA-AAC-CAT-CAA-CT5’

5’ GUC-AUG- ACU-UGU-GGU-AGU-UGA3’ 5’ GUC-AUG-ACU-UUG-GUA-GUU-GA3’

Met Thr Cys Gly Ser Met Thr Leu Val Val
Frame shift mutations often have a dramatic effect on the protein that from that point on will have a
different amino acid composition or will be shorter.
GENOMIC MUTATION

It is the one that affects the entire genome or entire parts of

the genome, in the sense that there is an alteration in the
number of chromosomes. These mutations are divided into
polyploidy and aneuploidies.

Polyploidy are characterized by genotypes with genomes

multiple of n: a 6n organism would be a polyploid organism.
Polyploidy leads to gigantism and is possible only for plants,
not for animals

Animals can at most have gene mutations called aneuploidies,

in which there is a whole part of the genome more or less: if
there is an extra chromosome you have a trisomy, if there is
one chromosome less you have a monosomy
For the human species, only one monosomy, Turner's syndrome, is
compatible with life, characterized by a karyotype with 45
chromosomes.
The individual with Turner syndrome is female and has only one sex
chromosome X
• The human karyotype consists of 46 chromosomes, 44
autosomes and two sex chromosomes, XX or XY
• Autosome pairs are formed by homologous chromosomes
(same length, same genes)
• The X and Y sex chromosomes are different in size and do
not have the same genes

Cariotipo femminile Cariotipo maschile

Because of the considerable difference in size between the large gene-rich X
chromosome and the gene-poor small Y chromosome, a woman therefore has
more DNA (and more genes) than a man.

Nature tries to rebalance this difference by inactivating one of the two X

chromosomes in the woman, forming Barr's body.
The inactivation process that begins around the fourth week of gestation seems
to be completely random; a woman is therefore a mosaic of cells that have active
one or the other of the two X chromosomes.
The individual with Klinefelter syndrome is male because he has the Y
chromosome, but has problems because
he differentiated as a male but with
two active X chromosomes during
embryonic development.
The individual with Turner syndrome is
female because she does not have the
Y chromosome, but has problems because
she has differentiated as a female but with
only one active X chromosome during
embryonic development.
For the human species are compatible with life, in the sense that
they can allow a survival of a few tens of years, only Trisomy 21
(Down syndrome) and Klinefelter Syndrome, both characterized by a
karyotype with 47 chromosomes. These aneuploidies result from
errors in chromosome separation during meiosis.

The individual with Klinefelter

syndrome is male and has three
sex chromosomes, XXY