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AREAS OF GENETICS to explain such phenomena as adaptation

1. CLASSICAL GENETICS and speciation.


consists of the techniques and
methodologies of genetics that predate the 8. ECOLOGICAL GENETICS
advent of molecular biology. builds upon the basic principles of
population genetics but is more explicitly
2. BEHAVIORAL GENETICS focused on ecological issues.
studies the influence of varying genetics While molecular genetics studies the
on animal behavior. structure and function of genes at a
studies the effects of human disorders as molecular level, ecological genetics
well as its causes. focuses on wild populations of organisms,
answers some very interesting questions and attempts to collect data on the
about the evolution of various behavior . ecological aspects of individuals as well as
molecular markers from those individuals.
3. CLINICAL GENETICS
Physicians who are trained as Geneticists APPLICATIONS
diagnose, treat, and counsel patients with Plant and Animal Improvement
genetic disorders or syndromes. Medicine
Genetic Engineering
4. MOLECULAR BIOLOGY Genetic Counselling
builds upon the foundation of classical Legal Applications
genetics but focuses on the structure and
function of genes at a molecular level. APPROACHES TO GENETICS
It employs the methods of both classical  TRANSMISSION GENETICS
genetics (such as hybridization) and Patterns of inheritance of traits are
molecular biology. examined.
Experiments are designed so that the
5. MOLECULAR SYSTEMATICS transmission of traits from parents to
use of molecular information to determine offspring can be analyzed through several
the patterns of descent, and therefore the generations
correct scientific classification of  PEDIGREE ANALYSIS
organisms tool used in transmission genetics
Leads to inferences concerning the mode
6. EPIGENETICS of inheritance of a particular trait
study of inherited features not strictly  CYTOGENETICS
associated with changes in the DNA Study of chromosome structure and
sequence behavior during cell division
Karyotype - tool used in cytogenetics
7. POPULATION GENETICS - illustrates the
studies the distribution of and change in chromosomes of any
allele frequencies of genes under the species arranged in a
influence of the four evolutionary forces: standard sequence
natural selection, genetic drift, mutation  MOLECULAR GENETIC ANALYSIS
and migration. It is the theory that attempts
Includes information on the nature,  Synthesis of DNA takes place at this
expression, replication, regulation of the stage.
genetic information.  Replication of DNA and synthesis of
Includes also determination of nucleotide histones
sequences  Maturation of daughter centrioles
 RECOMBINANT DNA STUDIES  RNA synthesis (about the same rate as
tool used in molecular genetic studies G1 and G2)
genes from another organism are spliced  Rapid rise in DNA polymerase
into bacterial or viral DNA and cloned synthesis and RNAs needed for the
 DNA BIOTECHNOLOGY degeneration of nuclear membrane
allows the cloning, identifying, sequencing,
and manipulation of the genes. G2
• RNA synthesis (in lesser amounts)
CELL DIVISION • Centrioles separate in two pairs
• Synthesis of RNA require to direct the
synthesis of proteins necessary for
mitosis.

G0 Phase
 The Go phase is a substage in the
interphase stage entered into by cells
that will differentiate or specialize.
 The cells that enter this stage are
metabolically active but they do not
INTERPHASE replicate their DNA anymore
G1  Examples of such cells are the cells of
 Materials needed for cell division are our muscles, nerves, brain, heart, and
synthesized or acquired. eyes.
 The cell is allowed to grow to a proper
size and receives the necessary signals PROPHASE
to proceed to cell division.  Nuclear membrane starts to
 Nucleus and cytoplasm are enlarging disintegrate.
towards mature size  Nucleolus starts to disappear.
 Chromatin is fully extended and thus  Chromosomes start to condense.
not distinguishable  Centrosomes start to move on opposite
 Synthesis of enzymes necessary for poles and mitotic spindle begins to form
DNA synthesis
 Synthesis of proteins that initiate DNA  Spindle formed from microtubules
synthesis and those that trigger nuclear  Tubulin proteins
division  3 types of microtubules
 Astral – position spindle in cell
S (SYNTHESIS) PHASE  Polar – separate 2 poles
 Kinetochore – attached to  Spindle fibers shorten and pull the
kinetochore bound to centromeres of chromosomes towards the opposite
each chromosome pole of the cell.
 Sister chromatids are separated from
each other.
 Spindle fibers not attached to
chromosomes interact and lengthen to
push the poles of the cell apart, forcing
the cell into an oval shape. This is the
start of cytokinesis.
 Cytokinesis starts with the arrival of the
chromosomes on opposite poles. This
is evidenced by the presence of a
cleavage furrow.
 In cytokinesis, microfilaments attach
to the plasma membrane and form a
PROMETAPHASE ring around the equator of the cell.
 Chromosomes continue to coil and  The ring contracts and constricts the
supercoil. cell’s equator.
 Mitotic spindle is completely formed  Eventually, it is constricted and the
during this phase cell is divided into new daughter
 Chromosomes start to move towards cells.
the metaphase plate (The midline  In plants, cell plate forms a cell wall
region of the cell; plane that lies between the two daughter cells; an
perpendicular to the axis established by additional structure called cell wall is
the spindle) found. This makes it impossible to
 Spindle fibers interact with sister divide the cell into 2 by just pinching
chromatids the cell at the middle part.
 Two kinetochores (a constricted portion  Instead, a carbohydrate-filled
of the chromosome where the spindle vesicles, which bud off the golgi
fibers attach during cell division) on complex, line up along the cell’s
each pair of sister chromatids attach to equator between the two nuclei. The
kinetochore microtubules from opposite vesicles then fuse producing a cell
poles plate.

METAPHASE TELOPHASE
 Chromosomes are at their thickest and  Reorganization stage of cell division.
shortest.  Spindle fibers disintegrate.
 Chromosomes are aligned at the  Nuclear membrane and nucleolus
metaphase plate at random. reappear.
 Chromosomes revert back to their
ANAPHASE extended state.
Diakinesis
 Progressive shortening
 the chiasmata move along the length of
each structure until they reach the ends
of the chromosomes (terminalization).
 the nucleoli and nuclear membrane
break down so that the cell can enter
the next stages of meiosis I.

PROMETAPHASE I
 The nuclear membrane disappears.
One kinetochore forms per
PROPHASE I chromosome rather than one per
Leptotene chromatid, and the chromosomes
 Condensation: threads of DNA wrapped attached to spindle fibers begin to move
in nuclear proteins and histones towards the metaphase plate.
gradually become visible because they  Note: the chromosomes are still in their
start to coil. bivalent form.
Zygotene
 Polarity METAPHASE I
 Chromosomes start to pair up with their  Bivalents, each composed of two
homologous partner (synapsis) chromosomes (four chromatids) align at
 Formation of bivalents/tetrad (Bivalents the metaphase plate. The orientation is
consist of two chromosomes (each one random, with either parental homologue
consisting of two chromatids) bound on a side. This means that there is a
together at certain points; each 50-50 chance for the daughter cells to
chromosome comes from a different get either the mother's or father's
parent) homologue for each chromosome.
 Formation of synaptonemal complex.
This complex extends the length of the ANAPHASE I
chromosome pair and is attached to the  Chiasmata separate. Chromosomes,
nuclear envelope. each with two chromatids, move to
Pachytene separate poles. Each of the daughter
 one of the longest stages of Prophase I cells is now haploid (half the
 biological information is exchanged chromosome number), but each
between chromosome pairs (crossing- chromosome has two chromatids. (This
over). is the reason why a 2nd division has to
Diplotene take place.)
 dissolving and breaking down of the
synaptonemal complex occurs at this TELOPHASE I
stage  Unlike in mitosis where the telophase
 The homologous chromosomes move stage reverts the cell back to its original
apart but they do not separate entirely. appearance, in telophase of the 1st
meiotic division, the cell immediately THE INTERPHASE NUCLEUS
proceeds to the next division. In eukaryotes:
1. DNA is separated from the
PROPHASE II cytoplasm by the nuclear envelop.
 Prophase II is a fast stage because the 2. transcribes RNA separately from
cellular contents has just come from a proteins.
preceding division and therefore are 3. chromatin can be present in
prepared already. condensed form (heterochromatin)
 Remember at this point onwards, the and in dispersed form
cell is already haploid and that the (euchromatin). Heterochromatin
events that will take place is the same tends to be attached to the internal
as in mitotic division. side of the nuclear envelop except at
areas where there are nuclear pores.
METAPHASE II 4. nucleoplasm contains electron dense
 Chromosomes align at the metaphase granules, some of which contains
plate. RNA. These granules may be
 There are no homologues here now so ribonucleoproteins (RNP) that
there are no bivalents anymore. probably contain the mRNA
precursors.
ANAPHASE II 5. contains a nuclear matrix or skeleton
 The sister chromatids are separated that is protein in nature – the nuclear
from each daughter as an effect of the lamina, which is attached to the
shortening of the spindle fibers. internal side of the nuclear envelop.
 no 2 daughter chromatids are the
same here. The nuclear lamina
1. separates heterochromatin from the
TELOPHASE II inner nuclear membrane.
2. also called fibrous lamina .
 Telophase II reorganizes the cell and
3. has 3 polypeptides called lamins A,
ends with the formation of 4 daughter
B, C. At the start of prophase they
cells, each one different from the other.
start to depolymerize. At telophase,
they re-polymerize around the
nuclear periphery.
4. lamin B – associated with membrane
vesicles during mitosis which in turn
might remain as components from
which the nuclear envelop is
assembled.
Lamins A and C – become entirely
soluble during mitosis and at
telophase they become
dephosphorylated again and
polymerize around the chromatin.
The Chromatin 1. Classification according to position of
1. contains DNA, RNA, basic proteins centromere.
called histones and non-histones. a. Telocentric – centromere is
Histones are small proteins that have a located on one end.
high content of the amino acids b. Acrocentric – centromere is
arginine and lysine. It binds tightly to located near the end.
DNA. c. Submetacentric - centromere
H2A, H2B, H3, H4 are the main types of is located slightly away from
histones. They are very similar in the center.
different species because they are d. Metacentric - centromere is
the most conserved proteins. They located at the center
occur 2/200 bp in DNA. 2. Parts:
Non-histones are very heterogenous. a. Centromere – holds the two
They vary in different tissues and sister chromatids together.
include RNA and DNA polymerase - they contain specific
among other enzymes. sequence of DNA and
2. has a repeating structure of beads lies within the thinner
about 10 nm in diameter connected segment of the
by a string of DNA. chromosome, the
primary constriction.
Eukaryotes require chromatin because - The regions flanking it
they contain a large amount of DNA, contain highly repetitive
which must be tightly packed during DNA.
cell division. In prokaryotes, the DNA b. Kinetochore - provides a
divides without changing its center of assembly for
condensation state. They don’t have microtubules. About 4-40
histones and they are not neutralized microtubules become attached
by basic proteins but by polyamines. to it and provide the force for
chromosomal movement
The Nucleosome during mitosis.
1. made up of 4 histones arranged in 3. Classification according to number of
octamers. kinetochore:
2. neighboring nucleosomes are a. monocentric – with one
connected by linker DNA. kinetochore
3. DNA makes 2 complete turns around b. holocentric – have diffuse
its histone octamers which are in kinetochores. Microtubules are
turn sealed by the H1 molecule. attached along the length of
the chromosomes.
Solenoid – a 30 nm fiber that arises from c. Acentric – no kinetochore. It
the folding of a nucleosome chain happens when chromosomes
with about 6 nucleosomes per turn. beak and fuse with another
one.
The Chromosomes
d. Dicentric – with 2 kinetochores. 3. it has an 8-fold symmetry: 2 rings
Due also to chromosomal (annuli), a central plug, and 8 radial
breakage. spokes that extend from the plug to
4. Telomeres – tip of the chromosome. the ring.
They are the ends of the linear DNA
and they have an unusual DNA NOTE: The number of pores in the nuclear
structure. membrane correlates with the
transcriptional activity of the cell in a
NOTE: When chromosomes are broken, directly proportional manner.
the free ends without telomeres
become sticky and fuse with other 4. Exchange of materials is very
broken chromosomes. They do not, selective.
however, fuse with a normal 5. Prevents ribosomes from entering to
telomere. ensure that no immature mRNA will
be translated.
5. Secondary constrictions – useful in 6. Prevents heterogenous RNA from
identifying particular chromosomes leaving the nucleus
in a set. They are distinguished from
the primary constriction by the
absence of marked angular
deviations of the chromosomal
segments during anaphase.
6. nucleolar organizers – these are
secondary constrictions that contain
the genes coding for 18S and 28S
rRNA and that induce the formation
of nucleoli. In man, these are located
in chromosomes 13-15, and 21-22,
all of which are acrocentrics with
satellites.

The Nuclear Envelope


1. with an inner and outer membrane
enclosing a lumen and traversed by
pores.
2. membrane is made up of bilipid layer
with ribosomes on the outer surface.
Direct continuity with RER is
possible because of similarity in lipid
constitution.

The Nuclear Pore


1. 80 nm in diameter (inside diameter)
2. not a wide open channel

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