Embryonic terms &Cell

division
DR KIBE
cell
• Cell= basic unit of life
• Cell types=
1) games (sperms,ova) in gonads
2) germ
3) somatic
Chromosomes, DNA, genes
• Genes- inherited and determine individual
characteristics
• DNA- short strands of genes
• Chromosome- contains several strands of DNA

• Somatic/germ=46 chromosomes=23 pairs

• Gametes=23 chromosomes
• Chromosome exist in pairs=sister chromatids-joint at cetromere
terms
• Mesenchymal=migratory cells/connective tissue of
embryo
• Pluripotency=ability of a cell to give rise to various
types of cells
• Differentiate- cell movement from primitive to
advanced
• Committed- cell cant differentiate further
• proliferate
• Embryology is the study of the origin and
development of an organism.
• In humans, development starts when an egg (oocyte)
from female and a sperm (spermatozoa) from male
unite and give rise to a new organism, the zygote in a
process is called fertilization
Cell division= two types of cell divisions

• Mitotic division= the cell divides and give rise to two

daughter cells with same number of chromosomes
&genetic composition as the mother cell
Purpose=growth, repair, asexual reproduction
• Meiotic division= cell divides and give rise to 4
daughter cells with half number of chromosomes and
half DNA material
Purpose=Gamete formation,-sexual reproduction
Mitotic division
• Before a cell enters mitosis, each chromosome
replicates its deoxyribonucleic acid (DNA)
• During this replication phase the chromosomes are
extremely long, they are spread diffusely through the
nucleus, and they cannot be recognized with the light
microscope
• With the onset of mitosis the chromosomes begin to
coil, contract, and condense; these events mark the
beginning of prophase
• Each chromosome now consists of two parallel
subunits, chromatids, that are joined at a narrow
region common to both called the centromere
• Throughout prophase the chromosomes continue to
condense, shorten, and thicken but only at
prometaphase do the chromatids become
distinguishable and their doubled structure is clearly
visible
• Each is attached by microtubules extending from the
centromere to the centriole, forming the mitotic
spindle.
Stages of mitosis

• PROPHASE: When mitosis begins, the chromosomes begin to coil, contract

and condense
• METAPHASE. The chromosomes line up in the equatorial plane
• ANAPHASE. Each chromosome undergoes a longitudinal division of the
cetromere and give rise to two daughter chromosomes. The daughter
chromosomes begins to migrate towards the opposite poles of the cell
• TELOPHASE. The daughter chromosomes are at the opposite poles of the cell.
The chromosomes uncoil and lenghthen, and the cell cytoplasm divide and
gives rise to two daughter cells
• DAUGHTER CELL: Each daughter cell has same number of chromosomes as
the mother cell.
Meiotic divisions -1st and 2nd
• The germ cells replicate their DNA before the commencement of
meiotic division just like in mitotic division
• Purpose= 1, to allow exchange of genetic materials between
homologous chromosomes and 2, to reduce to half (23) the number
of chromosomes and DNA material
First meiotic division

• Purpose = to allow exchange of genetic material

• Before the 1st meiotic begin, the germ cell replicates its DNA as in
mitotic
• There is pairing of homologous chromosomes in a process called
synapses which is exact and point to point, except for X-Y
combination.
• The homologous pair contains 4 chromatids since each chromosome
is double structured containing 2 chromatids
• There is exchange of chromatids segments between the paired
homologous chromosomes (cross over). The point of interchange is
known as the chiasma.
• They then split longitudinally, having exchanged blocks of genetic
materials, and each chromosome migrate toward opposite poles of
the cell.
• Each of the two daughter cells has 23 double-structured
chromosomes and contains one member of each chromosome pair.
The daughter cell has the same amount of DNA as normal cell
because each chromosome is still double-structured.
Second meiotic division
• Purpose= to reduce to half (23) the number of chromosomes and
DNA amount
• 2nd meiotic division starts immediately after the end of 1st meiotic
division and no duplication of DNA material
• The 23 double -structure chromosomes divides at the cetromere and
each daughter cell receive 23 chromatids. The DNA now is half that of
somatic cell
• Therefore, a germ cell is formed with haploid number of
chromosomes and half amount of DNA
 Results

• In females, one germ cell gives rise to 4 daughter cells,

and each has 22 + 1 X chromosomes.
• Only one out of the 4 matures into a gamete (tertiary
oocyte). The rest 3 become polar
• In male, one germ cell give rise to 4 daughter cells and
all develop into mature gametes.
• Two daughter cells contains 22+1 X- chromosomes ,
and the other two contains 22+1 Y-chromosomes
Numerical Abnormalities
• Somatic cell-46 chromosome (diploid or 2n)
• Gamete-23 (haploid,n)
• Euploid refers to any exact multiple of n, e.g., diploid or
triploid.
• Aneuploid refers to any chromosome number that is not
euploid;
• it is usually applied when an extra chromosome is present
(trisomy) or one missing (monosomy).
Clinical correlation
• Chromosomal abnormalities,= numerical or structural,
• About 50% of conceptions end in spontaneous abortion and
that 50% of these
• important causes of birth defects and spontaneous
abortions.
• The most common chromosomal abnormalities in abortuses
are 45,X (Turner syndrome), triploidy, and trisomy 16.
Things may go wrong during meiotic division= Abnormalities

• During the separation of homologous chromosomes

in the first meiotic division, each daughter cell is
supposed to receive one component of each pair.
• Sometimes separation does not occur (nondisjuction)
and both members of a pair move to one cell. The
result is that one cell receives 24 chromosomes and
the other 22 chromosomes.
• Then, when a gamete with 23 chromosomes fuses
with a gamete with 24 chromosomes, the result is a
cell with 47 chromosomes =trisomy. Eg Downs
syndrome is trisomy 21. A gamete with 23
chromosomes fuses with a gamete with 22
chromosomes chromosomes= monosomy
• The nondisjuction can also occur during the 2nd meiotic
division
• Occasionally nondisjunction occurs during mitosis (mitotic
nondisjunction) in an embryonic
• Such conditions produce mosaicism,=some cells wt normal
and other abnorma.
• Affected individuals may exhibit few or many of the
characteristics of a particular syndrome, depending on the
number of cells involved and their distribution.
• Sometimes chromosomes break, and pieces of one
chromosome attach to another. Such translocations may be
balanced, in which case breakage and reunion occur
between two chromosomes
• unbalanced, in which case part of one chromosome is lost.
• For example, unbalanced translocations between the long
arms of chromosomes 14 and 21 during meiosis I or II
produce gametes with an extra copy of chromosome 21, one
of the causes of Down syndrome
Down syndrome
Due to extra copy of chromosome 21 (trisomy 21)
• Features of children with Down syndrome include
growth & mental retardation; craniofacial
abnormalities,
• These individuals also have relatively high incidences
of leukemia, infections, and premature aging
• An extra chromose may occur in chromosome 18,13
resulting in mental retardation etc
Trisomy 18

Photograph of child with trisomy 18. Note the prominent occiput, cleft lip,
micrognathia,
Child with trisomy 13. Note the cleft lip and palate, the sloping forehead,and
microphthalmia
KLINEFELTER SYNDROME
• found only in males and detected at puberty,
• sterility, testicular atrophy, hyalinization of the seminiferous
tubules, and usually gynecomastia.
• The cells have 47 chromosomes with a sex chromosomal
complement of the XXY type, and a sex chromatin body
(Barr body: formed by condensation of an inactivated sex
chromosome;
TURNER SYNDROME

• Turner syndrome, with a 45,X karyotype, is the only monosomy

compatible with life.
• 98% aborted.
• survivors are female
• characterized by the absence of ovaries (gonadal dysgenesis and
short stature.
• Other common associated abnormalities are webbed neck,
lymphedema of the extremities, skeletal deformities, and a broad
chest with widely spaced nipples
TRIPLE X SYNDROME

• Patients with triple X syndrome are infantite, with scanty menses and
some degree of mental retardation.
• They have two sex chromatin bodies in their cells
Structural Abnormalities

• usually result from chromosome breakage

• When broken piece is lost, and the infant with partial deletion is
abnormal.
• A well-known syndrome, caused by partial deletion of the short arm
of chromosome 5, is the cri-du-chat syndrome.
• Such children have a catlike cry, microcephaly, mental retardation,
and congenital heart disease
• Inheriting the deletion on the maternal chromosome results in
Angelman syndrome, and the children are mentally retarded, cannot
speak, exhibit poor motor development, and are prone to unprovoked
and prolonged periods of laughter
• If the defect is inherited on the paternal chromosome, Prader-Willi
syndrome is produced; affected individuals are characterized by
hypotonia, obesity, mental retardation, hypogonadism, and
cryptorchidism
• Other contiguous gene syndromes may be inherited from either
parent, including Miller-Dieker syndrome
Patient with Angelman syndrome resulting from a microdeletion on maternal
chromosome 15. If the defect is inherited on the paternal chromosome, Prader-
Willi syndrome occurs
Patient with Prader-Willi syndrome resulting from a microdeletion on paternal chromosome 15. If
the defect is inherited on the maternal chromosome, Angelman syndrome occurs
Gene mutation

• Alteration of gene
• Leads to congenital malformations and inborn errors of metabolism
• These diseases, among well known are
phenylketonuria,homocystinuria, and galactosemia are the best