Title of the Lecture: GAMETOGENESIS

Date of Lecture: August 19, 2018

Tutor: Dr. Dalvie Casilang
Transcriber: Saikol, Tiongson, Villarin

 Fetus
Overview o It is the prenatal stage between the
1. Introduction to Embryology embryonic state and birth of an
2. Importance of Embryology organism.
3. Brief history of Embryology o Fetal period starts at week 10
4. Introduction to Gametogenesis  Embryonic stage
5. Chromosome theory of inheritance o Between the 5th and 11th week after
6. Clinical Correlations fertilization.
a) Teratoma  Prenatal development
b) Chromosomal Abnormalities o Is the process in which an embryo
c) Numerical Abnormalities and later fetus develops inside the
mother’s womb.
Legend: o Starts with the fertilization of the
egg until it continues in fetal
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development until the birth of an
Introduction to Embryology organism.
In Prenatal development, Fertilization
starts during the 1st trimester, week 3 of the
 Embryology 1st month. Here, Embryogenesis starts until
o Branch of science that deals with
week 11. On week 11 starts the fetal
the prenatal development of the
development up until the birth of an
gametes, fertilization, and
organism. On week 14 starts the 2nd
development of embryos and
trimester until week 26, the start of the 3rd
fetuses.
trimester. At the end of the 40th week, is the
o Study of the development of an
expected childbirth.
organism starting from its
 Directional Terms
embryonic stage to its more mature
form.
 Zygote
o It is a eukaryotic cell formed by a
fertilization event between two
gametes.
o 2 weeks period of cell division
 Oocyte
o Preferred term for human female
sex cell
 Egg
o Cell of reptiles and birds protected
 Cranial/Cephalic/Rostral– upper part
with shell
(head)
 Ovum
 Caudal – lower part (tail)
o Stage from oocyte to implanting
 Ventral/Anterior – Front
blastocyst
 Dorsal/Posterior - back
 Ovule
 Median Plane – divides right and left
o Oocyte of mammals
section of the body
 Gamete
o Any germ or sex call – oocyte or  Median Section – the right and left
section of the body
sperm
 Sagittal Plane – any line that passes
 Embryo
o It is an early stage of development through the body
of a multicellular diploid eukaryotic  Transverse/Axial Plane – Any place is
organism. at right angle both to the Median and
o After 2 weeks until the 8th week. Coronal
 Frontal/Coronal Plane – Divides the
body anterior and posterior parts
 Importance of Embryology o Epigenesis- Gradual development
of an organism starting from an egg
to its fully developed organism.
Embryology provides knowledge essential Development of an organism from
for creating health care strategies for better one cell to multiple cells until it
reproductive outcomes. It has resulted in new becomes a complex organism.
techniques for prenatal diagnoses and
treatments; therapeutic procedures to Introduction to Gametogenesis
circumvent problems with infertility; and
mechanisms to prevent child birth defects.  Gametogenesis
This is also important for long term defects o Formation stages of an egg or
postnatally. sperm in an organism.
o Process of gamete formation that
Brief History of Embryology occurs in the gonads (Ovary or
testis).
 Oogenesis
 Joseph Needham o Stages of meiosis in the female
o named it ‘chemical embryology’ ovarian maturation, hormones, and
o reads/ studies everything about cycles ovulation.
embryology  Spermatogenesis
o Stages on meiosis in the male
 Hippocrates differentiation.
o Theorized ‘preformation’  SHH factor (Sonic Hedgehog factor)
 ‘Homunculus’ – preformed o One of the triggering factor of a
‘human’ inside the sperm. developing embryo regarding
 Miniature versions of organogenesis.
ourselves in the sperm that o Responsible for brain development,
only becomes larger during neural differentiation, Facial
development. morphogenesis, hair development,
 Aristotle and forming the midline of the
o First embryologist body.
o States that embryos are formed
from the seminal vesicle of the
father and a substance from a
mother.
 Ernst Haeckel
o Ontogeny recapitulates phylogeny
 Growth and development
of an organism reflects
evolution.
o Stages of development for an
animal embryo is the same as other
animal’s stages or form.
o For a more complex organism to
develop, it needs to pass through all
of the stages of development of the
more primitive organism before it
becomes the adult form of itself.
 Von Baer (1821)
o No recapitulation occurred
 Organisms have common
embryonic period in which
later on further
differentiate during
development.
o Proposed the germ layer theory of
development.
 Preformation vs. Epigenesis
o Preformation – Smaller versions of
an organism in a cell and becomes
larger during development

 Epiblast
o Most superficial layer
o Gives rise to primary germ layers:
Ectoderm, endoderm, and
mesoderm.
o Epiblast cells appear on the 8th
day of embryonic development.
o Primordial germ cells emerged
from the epiblast
 Starts migrating to the
yolk sac on the 2nd week
 Migrating to gonads on
the 4th week.
 On the 5th week, all
primordial germ cells
should be on the
indifferent gonads in the
urogenital ridge.
o The Urogenital ridge is the
complex. It is mesodermal in
origin. It is found in the posterior
aspect of the abdominal cavity.
This part will give rise to the
future urogenital, the kidneys.
(Kidneys are found in the
retroperitoneal cavity of an adult
human).
o The middle aspect (Picture
above), you can find the
indifferent gonads.
 Once the PRIMORDIAL
GERM CELLS reach the
Chromosome Theory of Inheritance
indifferent gonads,
primordial germ cells will
signal the indifferent
 23 pairs of Chromosome, 46 chromosome
gonads to differentiate to
each on a normal organism.
either of the 2 gonads,
 Mitosis
the ovary or the testis.
 Differentiation of the gonads
o Differentiation of the gonads will
depend on the sex chromosome
coming from the parents.
o Male- Presence of ‘Y’
chromosome
o Female- Absence of ‘Y’
chromosome
o Human embryos were destined to
become FEMALE embryos.
o ‘Y’ chromosome contains the SRY
gene, which codes for the TDF
(Testis determining factor). TDF
will signal the indifferent gonads
to differentiate into a testis.
o There were no factors to
differentiate the indifferent
gonads for females because
human embryos were destined to
become females.
o Humans already have 3 existing
structures: Urogenital ridge
containing gonads, the Wolffian
duct, and the Mullerian duct.
o Wolffian duct- future male
urogenital structure.
o Mullerian duct – future female
urogenital structure.
o Leydig cells
 Found in the testis
 They produce
testosterone, which
further metabolizes into
dihydrotestosterone
(DHT) that signals the
Wolffian duct to develop
further into male
urogenital structures.
o Sertoli cells
 They produce the MIF
(Mullerian Inhibiting
Factor), which arrests or
stops the development of
the Mullerian duct.
o If the organism is a female, just
the absence of everything will
make it a female. In the absence
of testosterone, the Wolffian
duct will automatically stops its
development.
o Not inhibiting the Mullerian
duct, it would develop into
female urogenital structures.
o Interphase – Preparation for cell
division
o Prophase- Condensation of the
chromosomes.
o Metaphase – Attachment of
chromosomes to the spindle fibers
Alignment of the chromosomes on
the equatorial plate.
 o Anaphase- Separation of the
chromosomes and movement of
separated chromosomes to
opposite poles.
o Telophase – Cell divides into 2
different cells

 Meiosis
o Anaphase 1
o Can either be spermatogonia or
 Pull pairs of homologous
oogonia (DIPLOID), which are
chromosome on opposite
somatic cells that undergo mitosis. poles.
o Once the spermatogonia or oogonia
becomes meiotically active, they
are called primary spermatocyte or
primary oocyte.
o There are 2 phases in meiosis,
Meiosis 1 and meiosis 2.
o When somatic cells enters meiosis,
you will have DNA replication.
 Meiosis 1
o During interphase of meiosis 1,
EVERYTHING DUPLICATES.
o Prophase 1
 Nuclear envelope disappearing
 Condensed chromosome o Telophase 1
 Chromosomes ling up NEXT TO  Nuclear envelopes appear
EACH OTHER.  Cells division resulting to 2
 Chromosomes share each diploid cells
other’s gene (Genetic
recombination/ Crossovers).

o Metaphase 1
 No nuclear envelopes
 Chromosomes lining up at the
center
 Centrosomes pulling
chromosomes apart.
 Meiosis 2

 SPERMATOGENESIS vs. OOGENESIS

o In spermatogenesis, it
undergoes the regular meiosis,
Meiosis 1 gives off 2 secondary
spermatocyte which will
proceed to meiosis 2, giving 4
haploid spermatids.
o Prophase 2 o In oogenesis, it undergoes the
 Nuclear envelopes start to same meiosis, but in MEIOSIS 1,
disappear. it gives off 1 secondary oocyte
and 1 polar body. The secondary
oocyte and the polar body
undergo meiosis 2, which will
give off 1 Mature oocyte and 2 3
polar bodies; 2 from your first
polar body, and 1 from your
secondary oocyte.
 How will you know if it is an oocyte or a
o Metaphase 2 polar body?
 Chromosomes lining up to o In an OOCYTE, the amount of
the center. cytosol is greater. Unlike the
 Spindle fibers attached to POLAR BODY, the amount of
each chromosomes. cytosol is less as if its nucleus is
next to the cell membrane.
 The difference between oogenesis and
spermatogenesis is: 1) Daughter cells, 2)
the timing when the steps of meiosis
happens.
o Example, in gametogenesis, not
all oocytes will finish meiosis 2
but all spermatocytes will finish
o Anaphase 2 meiosis 2.
 Each chromosomes were pulled
apart towards the opposite side Clinical Correlations

 Teratomas
o Tumors of disputed origin that
often contain a variety of tissues,
such as bone, hair, muscle, gut
epithelia, and others.
o Arise from a pluripotent stem
cell that can differentiate into
any of the three germ layers
o Telophase 2 Teratomas
 Reappearance of the nuclear o Tumors of disputed origin that
envelope. often contain a variety of tissues,
 Cell division resulting to 4 such as bone, hair, muscle, gut
haploid cells. epithelia, and others.
 Cellular Disjunction- Separation of the
pairs of chromosome.

o Arise from a pluripotent stem

cell that can differentiate into
any of the three germ layers
o PGCs that have strayed from
their normal migratory paths or
epiblast cells migrating through
the primitive streak during
gastrulation.
 o PGCs stops migrating towards
the urogenital ridge. Wherever
the PGCs stop, that point is
where your formation of
teratomas occur.
 Chromosomal Abnormalities
o May be numerical or structural
o Important causes of birth
defects (7%) & spontaneous
abortions
o 50% of conceptions end in
spontaneous abortion & 50% of
these abortuses have major
chromosomal abnormalities
o 25% of conceptuses have a
major chromosomal defect
o The most common  Different colonies of cell in a
chromosomal abnormalities in single human body.
abortuses are 45,X (Turner  Translocation- movement of genes to
syndrome), triploidy, and another location.
trisomy 16. o ‘Trans’ = move, change, switch
 Numerical Abnormalities o ‘location’ = location
o The number of chromosomes is
not normal
o Somatic cells are diploid, and
normal gametes are haploid.
o Euploidy- are any exact
multiples of n. The number of
the complete set of
chromosomes were multiplied.
 Triploidy – 3 sets of
chromosomes
 Tetraploidy- 4 sets of
chromosomes
o Aneuploidy – Any chromosome
 Down syndrome
number that is not Euploid. Only
o Trisomy 21 by nondisjunction.
a particular chromosome, not
o 1 in 100 new born
the entire set of chromosome.
An extra chromosome.
 Trisomy- 3 instances in a
particular chromosome
 Monosomy- presence of
only one chromosome from
a pair
o Nondisjunction – no separation
of chromosomes during cell
division.

 Edward syndrome
o Trisomy 18
o 1 in 5000 new born

o Chromosomal mosaicism - a
situation in which different cells
in the same individual have
different numbers or
arrangements of chromosomes.
 Patau Syndrome  STRUCTURAL ABNORMALITIES
o Trisomy 13 o Result from chromosome breakage
o 1 in 20,000 new born o Caused by environmental factors-
viruses, radiation & drugs
 Partial Deletion
o -Broken piece of a chromosome is
lost
o -Infant is “abnormal
 Cri- du- chat syndrome
o -Partial deletion of the short arm of
chromosome 5
o -Children have a catlike cry,
microcephaly, mental retardation,
and congenital heart disease

 Klinefelter syndrome
o 1 in 500 male new born

 Microdeletions
o Spans only a few contiguous genes
o May result in microdeletion
syndrome or contiguous gene
syndrome
o Sites where these deletions occur
called contiguous gene complexes
can be identified by high-resolution
 Triple x syndrome chromosome banding
o small portions are deleted

o Turner syndrome
 The syndrome is characterized by the
partial or complete absence of one X
chromosome (45,X karyotype)

 Angelman Syndrome
o Deletion occurs on the long arm of
chromosome 15 (15q11–15q13 )
 o Inheriting the deletion on the
maternal chromosome
o Children are mentally retarded,
cannot speak, exhibit poor motor
development and are prone to
unprovoked and prolonged periods
of laughter
o From the mother
 Prader-Willi Syndrome
o If the defect is inherited on the
paternal chromosome
o Affected individuals are
characterized by hypotonia,
obesity, mental retardation,
hypogonadism, and cryptorchidism
o From the father. Same with
Angelman syndrome (but from the
mother).
 Genomic Imprinting
o Characteristics that are
differentially expressed depending
upon whether the genetic material
is inherited from the mother or the
father
 Fragile sites
o Regions of chromosomes that
demonstrate a propensity to
separate or break under certain cell
manipulations
o Can be revealed by culturing
lymphocytes in folate-deficient
medium
 Fragile X Syndrome
o Although numerous fragile sites
have been defined and consist of
long arm of the X chromosome
(Xq27) has been correlated with an
altered phenotype
o Characterized by mental
retardation, large ears, prominent
jaw & pale blue iris
o Males are affected more often than
females (1/1000 versus 1/2000)
o Second only to Down syndrome as a
cause of mental retardation
because of chromosomal
abnormalities
 GENE MUTATIONS
o Many congenital formations in
humans are inherited showing a
clear Mendelian pattern of
inheritance
o Many birth defects are directly
attributable to a change in the
structure or function of a single
gene
o 8% of all human malformations
o With the exception of the X and Y
chromosomes in the male, genes
exist as pairs, or alleles, so that
there are two doses for each
genetic determinant, one from the
mother and one from the father
 DOMINANT MUTATION
o If a mutant gene produces an
abnormality in a single dose,
despite the presence of a normal
allele
 RECESSIVE MUTATION
o If both alleles must be abnormal
(double dose) or if the mutation is
X-linked in the male
o Inborn errors of metabolism
o These diseases are accompanied by
or cause various degrees of mental
retardation
o Phenylketonuria, homocystinuria &
galactosemia
 Cytogenetic analysis
o Used to assess chromosome
number and integrity
 DIAGNOSTIC TECHNIQUES
o The technique requires dividing
cells, which usually means
establishing cell cultures that are
arrested in metaphase by chemical
treatment.
o Chromosomes are stained with
Giemsa stain to reveal light and
dark banding patterns
 Fluorescence In Situ Hybridization or FISH
o Use specific DNA probes to identify
ploidy for a few selected
chromosomes
o Fluorescent probes are hybridized
to chromosomes or genetic loci
using cells on a slide, and the results
are visualized with a fluorescence
microscope

 Spectral karyotype analysis

o Technique in which every
chromosome is hybridized to a
unique fluorescent probe of a
different color
o Result are then analyzed by a
computer
o Each chromosome has its specific
color/ fluorescence.