DNA EKSTRAKROMOSOMAL,

SIFAT, DAN KEGUNAANNYA

Pengertian
DNA ekstrakromosomal : DNA lain
yang terdapat dalam sel di luar
nukleus, yaitu :
- DNA mitokondria, DNA kloroplas,
DNA plasmid
The Genome Defines the Program of
Multicellular Development
The cells in an individual animal or
plant are extraordinarily varied.
Fat cells,
skin cells,
bone cells,
nervecellsthey seem as dissimilar
as any cells could be. Yet all these
cell types are generated during
embryonic development from a single
fertilized egg cell, and all (with minor
exceptions) contain identical copies
of thegenome of the species.
The explanation lies in the way in
which these cells make selective use
of their genetic instructions according
to the cues they get from their
surroundings. The DNA is not just a
shopping
list
specifying
the
molecules that every cell must have,
and the cell is not an assembly of all
the items on the list. Rather, the cell
behaves as a multipurpose machine,
with
sensors
to
receive
environmental signals and highly
developed abilities to call different
sets of genes into action according to
the sequences of signals to which the
cell has been exposed. A large
fraction of the genes in the
eucaryotic genome code for proteins
that serve to regulate the activities of
other genes. Most of these gene
regulatory proteins act by binding,
directly
or
indirectly,
to
the
regulatory DNA adjacent to the genes
that are to be controlled (Figure 140), or by interfering with the abilities
of other proteins to do so. The
expanded genome of
eucaryotes
therefore serves not only to specify
the hardware of the cell, but also to
store the software that controls how
that hardware is used.
Eucaryotic Genomes Are
Rich
in
Regulatory DNA

Much of our noncoding DNA is almost

certainly dispensable junk, retained like a
mass of old papers because, when there
is little pressure to keep an archive small,
it is easier to retain everything than to
sort out the valuable information and
discard the rest. Certain exceptional
eucaryotic species, such as the puffer fish
(Figure 1-39), bear witness to the
profligacy of their relatives; they have
somehow
managed
either
to
rid
themselves of large quantities of
noncoding DNA, or to have avoided
acquiring it in the first place. Yet they
appear similar in structure, behavior, and
fitness to related species that have vastly
more such DNA.
DNA
inheritance blueprint
consist the genes (functional units)
covered into chromosome
Chromosomal aberration include
the genes (multi genes
Cells cultured

Kromosom manusia

Human chromosom

Karyotyping dr masa ke masa

Chromosome Abnormalities

Abnormalitas struktur
Translokasi
Resiprok

robertison
Delesi

Makro, mikro
Terminal, intersisal
Inversi
Perisentrik
parasentrik
Inversi
Ring dan isochromosome
Perbedaan cell line
mosaik
kimerisme
The Mouse Serves as a Model for
Mammals
Mammals have typically three or four
times
as
many
genes
as Drosophila, a genome that is 20
times larger, and millions or billions
of times as many cells in their adult
bodies. In terms of genome size and
function, cell biology, and molecular
mechanisms,
mammals
are
nevertheless a highly uniform group
of organisms. Even anatomically, the
differences among mammals are
chiefly a matter of size and
proportions; it is hard to think of a
human body part that does not have
a counterpart in elephants and mice,
and vice versa. Evolution plays freely
with quantitative features, but it does
not readily change the logic of the
structure.
To get a more exact measure of how
closely mammalian species resemble
one another genetically, we can
compare the nucleotide sequences of
corresponding (orthologous) genes,
or the amino acid sequences of the
proteins that these genes encode.
The results for individual genes and
proteins vary widely. But typically, if
we line up the amino acid sequence
of a human protein with that of the
orthologous protein from, say, an
elephant, about 85% of the amino
acids
are
identical.
A
similar
comparison between human and bird
shows an amino acid identity of
about
70%twice
as
many
differences, because the bird and the
mammalian lineages have had twice
as long to diverge as those of the
elephant and the human
Kelainan genetik

Eucaryotic cells
by definition, keep their DNA in a
separate
membrane-bounded
compartment, the nucleus. They have, in
addition, a cytoskeleton for movement,
elaborate intracellular compartments for
digestion and secretion, the capacity (in
many species) to engulf other cells, and
a metabolism that depends on the
oxidation of organic molecules by
mitochondria. These properties suggest
that eucaryotes originated as predators
on other cells. Mitochondriaand, in
plants, chloroplastscontain their own
genetic material, and evidently evolved
from bacteria that were taken up into the
cytoplasm of the eucaryotic cell and
survived
as
symbionts.
Eucaryotic cells have
typically
330
times as many genes as procaryotes, and
often thousands of times more noncoding
DNA. The noncoding DNA allows for
complex regulation of gene expression,
as required for the construction of
complex multicellular organisms. Many
eucaryotes are, however, unicellular,
among them the yeast Saccharomyces
cerevisiae, which serves as a simple
model organism for eucaryotic cell
biology, revealing the molecular basis of
conserved fundamental processes such
as the eucaryotic cell division cycle. A
small number of other organisms have
been chosen as primary models for
multicellular plants and animals, and the
sequencing of their entire genomes has
opened the way to systematic and
comprehensive
analysis
of
gene
functions, gene regulation, and genetic
diversity. As a result of gene duplications
during
vertebrate
evolution,
vertebrate genomes contain
multiple
closely related homologs of most genes.
This genetic redundancy has allowed
diversification and specialization of genes
for new purposes, but it also makes gene
functions harder to decipher. There is less

genetic
redundancy
in
the
nematode Caenorhabditis
elegans and
the fly Drosophila melanogaster, which
have thus played a key part in revealing
universal genetic mechanisms of animal
development
Eucaryotic DNA Is Packaged into a
Set of Chromosomes

In
eucaryotes,
the DNA in
the nucleus is divided between a set
of
different chromosomes.
For
example,
the
human genome
approximately 3.2 109 nucleotides
is distributed over 24 different
chromosomes.
Eachchromosome consists of a single,
enormously
long
linear
DNA molecule associated
with
proteins that fold and pack the fine
DNA thread into a more compact
structure.
The complex of
DNA
and protein is called chromatin(from
the Greek chroma, color, because
of its staining properties). In addition
to the proteins involved in packaging
the DNA, chromosomes are also
associated
with
many
proteins
required
for
the
processes
of geneexpression, DNA replication,
and DNA repair.

Bacteria carry their genes on a

single DNA molecule, which is usually
circular (see Figure 1-30). This DNA is
associated with proteins that package
and condense the DNA, but they are
different from the proteins that
perform
these
functions
in
eucaryotes. Although often called the
bacterial chromosome, it does not
have
the
same
structure
as
eucaryotic chromosomes, and less is
known about how the bacterial DNA
is packaged. Even less is known
about how DNA is compacted in
archaea. Therefore, our discussion of
chromosome structure will focus
almost
entirely
on
eucaryotic
chromosomes.

With the exception of the germ cells,

and a few highly specialized cell
types that cannot multiply and
lack DNAaltogether (for example, red
blood cells),
each
human
cell
contains
two
copies
of
each chromosome,
one
inherited
from the mother and one from the
father. The maternal and paternal
chromosomes
of
a
pair
are

calledhomologous chromosomes
(homologs).
The
only
nonhomologous chromosome pairs
are the sex chromosomes in males,
where a Y chromosome is inherited
from
the
father
and
an X
chromosome from the mother. Thus,
each human cell contains a total of
46 chromosomes22 pairs common
to both males and females, plus two
so-called sex chromosomes (X and Y
in
males,
two
Xs
in
females). DNA hybridization(describe
d in detail in Chapter 8) can be used
to
distinguish
these
human
chromosomes by painting each one
a different color (Figure 4-10).
Chromosome painting is typically
done at the stage in the cell cycle
when chromosomes are especially
compacted and easy to visualize
Nucleosomes Are the Basic Unit of
Eucaryotic Chromosome Structure

The proteins that bind to the DNA to

form eucaryotic chromosomes are
traditionally divided into two general
classes:
the histones and
the nonhistone
chromosomal
proteins. The complex of both classes
of protein with the nuclear DNA of
eucaryotic cells is
known
as chromatin. Histones are present in
such enormous quantities in the cell
(about 60 million molecules of each
type per human cell) that their total
mass in chromatin is about equal to
that of the DNA.

Histones are responsible for the first

and
most basic level
of chromosome organization,
the nucleosome,
which
was
discovered
in
1974.
When interphase nuclei are broken
open very gently and their contents
examined
under
the electron
microscope, most of the chromatin is
in the form of a fiber with a diameter
of about 30 nm(Figure 4-23A). If this
chromatin is subjected to treatments
that cause it to unfold partially, it can
be
seen
under
the
electron
microscope as a series of beads on a
string (Figure 4-23B). The string
is DNA, and each bead is a
nucleosome core
particle
that
consists of DNA wound around
a protein core formed from histones.
The beads on a string represent the

first level of chromosomal DNA

packing.
nucleosome
Structural
organization
of
the
nucleosome. A nucleosome contains a
protein core made of eight histone
molecules. As indicated, the nucleosome
core particle is released from chromatin
by digestion of the linker DNA with a
nuclease, an enzyme that breaks

Each nucleosome core

particle
is
separated from the next by a region of
linker DNA, which can vary in length from
a few nucleotide pairs up to about 80.
(The term nucleosome technically refers
to a nucleosome core particle plus one of
its adjacent DNA linkers, but it is often
used synonymously with nucleosome
core particle.) On average, therefore,
nucleosomes repeat at intervals of about
200 nucleotide pairs. For example,
a diploidhuman
cell
with
6.4

109 nucleotide
pairs
contains
approximately 30 million nucleosomes.
The formation of nucleosomes converts a
DNA molecule into
a chromatin thread
about one-third of its initial length, and
this provides the first level of DNA
packing.

Genes carry biological information

that must be copied accurately for
transmission to the next generation
each time a cell divides to form two
daughter cells. Two central biological
questions
arise
from
these
requirements:
how
can
the
information
for
specifying
an
organism be carried in chemical form,
and how is it accurately copied? The

discovery
of
the structure of
the DNA double helix was a landmark
in twentieth-century biology because
it immediately suggested answers to
both questions, thereby resolving at
the molecular level the problem of
heredity. We discuss briefly the
answers to these questions in
this section, and we shall examine
them in more detail in subsequent
chapters.
DNA encodes information through
the order, or sequence, of the
nucleotides
along
each
strand.
Each baseA, C, T, or Gcan be
considered as a letter in a four-letter
alphabet that spells out biological
messages
in
the
chemical structure of the DNA. As
we saw in Chapter 1, organisms differ
from one another because their
respective DNA molecules
have
different nucleotide sequences and,
consequently,
carry
different
biological messages. But how is the
nucleotide alphabet used to make
messages, and what do they spell
out?
As discussed above, it was known
well
before
the structure of DNA was determine
d that genes contain the instructions
for
producing
proteins.
The DNA messages must therefore
somehow encode proteins (Figure 46). This relationship immediately
makes
the
problem
easier
to
understand, because of the chemical
character of proteins. As discussed in
Chapter 3, the properties of a protein,
which
are
responsible
for
its
biologicalfunction, are determined
by its three-dimensional structure,
and its structure is determined in
turn by the linear sequence of the
amino acids of which it is composed.
The linear sequence of nucleotides in
a gene must therefore somehow spell
out the linear sequence of amino
acids in a protein. The exact
correspondence between the fourletter nucleotide alphabet
of DNA and the twenty-letter amino
acid alphabet of proteinsthegenetic
codeis
not
obvious
from
the DNA structure, and it took over
a decade after the discovery of
thedouble helix before it was worked

out. In Chapter 6 we describe this

code in detail in the course of
elaborating the process, known
as gene expression, through which a
cell
translates
the
nucleotide
sequence of a gene into the amino
acid sequence of a protein.
The Structure of DNA Provides
a
Mechanism for Heredity

In Eucaryotes, DNA Is Enclosed in a

Cell Nucleus
Nearly all the DNA in a eucaryotic cell is
sequestered in a nucleus, which occupies
about 10% of the total cell volume.
This compartment is
delimited
by
a nuclear
envelope formed
by
two
concentric lipid bilayer membranes that
are punctured at intervals by large
nuclear pores, which transport molecules
between the nucleus and thecytosol. The
nuclear envelope is directly connected to
the
extensive
membranes
of
the endoplasmic
reticulum.
It
is
mechanically supported by two networks
of intermediate filaments: one, called
the nuclear lamina, forms a thin sheetlike
meshwork inside the nucleus, just
beneath the inner nuclear membrane;
the other surrounds theouter nuclear
membrane and is less regularly organized