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Chapter 1

Chromosomes contain DNA that is packaged into chromatin through multiple levels of organization. At the lowest level, DNA wraps around histone proteins to form nucleosomes. Nucleosomes further compact to form two types of chromatin: euchromatin, which is loosely packed and gene-rich; and heterochromatin, which is tightly packed with few genes. Heterochromatin can be constitutive and permanently silenced or facultative and silenced only during certain phases. This packaging allows the long DNA molecules to fit inside cell nuclei.

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127 views34 pages

Chapter 1

Chromosomes contain DNA that is packaged into chromatin through multiple levels of organization. At the lowest level, DNA wraps around histone proteins to form nucleosomes. Nucleosomes further compact to form two types of chromatin: euchromatin, which is loosely packed and gene-rich; and heterochromatin, which is tightly packed with few genes. Heterochromatin can be constitutive and permanently silenced or facultative and silenced only during certain phases. This packaging allows the long DNA molecules to fit inside cell nuclei.

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Nurarief Affendy
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We take content rights seriously. If you suspect this is your content, claim it here.
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DNA NUCLEOSOME

 Describe DNA location in Chromosomes


 Describe the Lowest Level of Chromosome
Organization
 Differentiate Chromosomes and Chromatin
 Describe how different levels of chromation
organization allows chromosome to be fitted
inside nucleus
 Differentiate heterochromatin (constitutive
and facultative) and euchromatin
• Chromosomes are discrete physical entities
that carry genes
• Autosomes occur in pairs in a given individual
(not the X or the Y chromosome)
• Sex chromosomes are identified as X and Y
• Females have two X chromosomes
• Males have one X and one Y chromosome
• The plans for making cells are coded in DNA
• DNA is organized into giant molecules called
chromosomes
• Each chromosome is a single DNA molecule
containing many genes
• Each gene gives the directions for making 1
protein
• In humans each chromosome has approximately
2000 genes (46,000 genes)
• Every gene has its place, or locus, on
a chromosome
• Genotype is the combination of
alleles found in an organism
• Phenotype is the visible expression of
the genotype
• Wild-type phenotype is the most
common or generally accepted
standard
• Mutant alleles are usually recessive
• The sequence of nucleotides
in a gene is a genetic code
that carries the information
for making an RNA
• A change in the sequence
of bases constitutes and
mutation, which can
change the sequence of
amino acids in the genes
polypeptide product
• Chromosomes have distinct
parts
• Centromeres:
• Hold duplicated chromosomes
together before they are
separated in mitosis
• Kinetochore proteins bind to
centromere and attach
chromosome to spindle in
mitosis
• Telomeres: ends of
chromosomes: important in
cell aging
• To make a new cell the old cell must duplicate
all its parts
• Duplication takes place in interphase
• DNA (chromosomes) duplicated in the S subphase
• Entire chromosome is duplicated at the same time
• The duplicated chromosome remains attached to the
original chromosome by its centromere
• The original chromosome and its duplicated partner
are called sister chromatids
 are made of chromatin, a complex of DNA
and associated protein.
 Before cell division, the chromatin
condenses, coiling and folding to make a
smaller package.
 Each duplicated chromosome consists of
two sister chromatids, which contain
identical copies of the chromosome’s DNA.
 As the chromosomes condense, the region
where the chromatids connect shrinks to a
narrow area, the centromere.
• Chromosomes – present as highly
extended nucleoprotein fibers called
chromatin
• Chromatin contains highly extended
nucleoprotein fibers (DNA, RNA,
associated protein)
• Human DNA: average human cell has
~6.4 billion bp of DNA divided among
46 chromosomes (2 meters long)
(estimated based on each base pair is
0.34nm in length)
• Nucleosomes - the lowest level of
chromosome organization
• DNA + associated proteins 
chromatin (nucleoprotein fibers)
• Histones are basic positively charged
proteins that are associated with
negatively charged DNA.
• Histones help package the DNA into
structural units called nucleosomes
• Roger Kornberg
(1974, Harvard)
– proposed that
DNA & histones
are organized
into repeating
subunits
(nucleosomes)
• This assembly
type increased
the DNA
packing ratio
to 40 fold
• Each nucleosome
consists of a
nucleosome core
particle.
• Each particle consists
of eight core
histones (H2A, H2B,
H3, H4) assembled
into an octamer.
• The remaining histone
(H1) is called the
linker histone that
binds to the linker
DNA.
• Together the core
interact with 148 bp
• Ionic bonds (Non covalent bond) DNA and the linker
holds negatively charged with additional 20 bp
phosphate backbones of DNA and (Total 168 bp DNA)
positively charged histones
• Lowest structural level of DNA is 10
nm nucleosome core
• In EM, see “dots” 30 nm in diameter
(3X the nucleosome diameter;
chromatin cut in cross-section)
• Linker histones & core histones
implicated in higher-order chromatin
structure (fiber-like structure)
• Next stage of packaging - 30 nm fiber is
gathered into series of big, supercoiled
loops
• Typically, the DNA loops begin & end with AT-
rich sequences of variety of proteins
• Included among proteins is type II
topoisomerase that regulates the degree of
DNA supercoiling
• They untangle DNA of different loops when
they intertwine
• Loops are usually not visible, only revealed
during mitosis
LEVELS OF
CHROMATIN
ORGANIZATION
Double helix DNA

Nucleosome core particle

Nucleosome filament

Chromatin fiber (Packed


nucleosome)

Supercoiled loops

Mitotic chromosome (Metaphase)


 Two types of chromatin after mitosis in
the diffuse interphase condition : and

euchromatin

heterochromatin
• The euchromatin is less intense and
is dispersed
 Euchromatin is a lightly packed form
of chromatin (DNA, RNA and protein) rich
in gene concentration
 Often under active transcription.
 Most active portion of the genome within the
cell nucleus - 92% of the human genome is
euchromatic, remainder is
called heterochromatin
BACK
• Heterochromatin (10%) remains condensed
throughout interphase and stains intensely,
indicating tighter packing
• Tightly packed form of DNA
the part of a chromosome that is
inactive in gene expression (no
transcriptional
activity) but may function in controlling
metabolic activities,
transcription, and cell division.
• Two types ;
 constitutive heterochromatin
 facultative heterochromatin
• Exist in compacted state most of the time
and permanently silenced.
• Constitutive heterochromatin is usually
repetitive (few genes) and forms structural
functions such as centromeres or telomeres
• If an active gene is accidentally moved
adjacently to a constitutive
heterochromatin; (as a result of
transposition and translocation) they will
become transcriptionally silenced –
position effect
• Is only silenced during certain phase of an
organism’s life, it can be activated!
• The case of the XX chromosome vs the XY
chromosome (Females have more genes?)
• Only one X chromosome is transcriptionally
active; the other one is a heterochromatic clump
called the Barr body
• X chromosome inactivation - Mary Lyon (British
geneticist, 1961) studied inheritance of coat color
in mice has made the following hypothesis:
• Heterochromatization of X chromosome in
female mammals occurs during embryo
gastrulation; inactivates genes on X
chromosome
• It is random in any given cell (could be
paternally or maternally derived X chromosome)
• Inactive X chromosome reactivated in germ
cells before meiosis, so both X chromosomes
become euchromatin & active during oogenesis.
• Therefore, all gametes get a euchromatic X
chromosome
• Paternal and maternal genes on X
chromosomes are different
• Adult females are genetic mosaics (with
different alleles functioning in different
cells)
• Reflected in the patchwork coloration
of the fur of some mammals (calico
cats)
• Pigmentation genes in humans are not
found on X chromosome so there are no
calico women.
Mosaicism in calico cats
• Mosaicism has been demonstrated in
women who are carriers for red-green color
blindness (patches of retinal cell with
defective color vision among patches of
normal vision)

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