DNA organization

Learning objectives
Outline the properties and functions of Histone proteins
Describe the packing of DNA into higher order structure
chromosomes
Describe the principle of karyotyping and its
interpretation
List the parts of a Chromosome and outline the principles
of banding techniques
Differentiate Coding and non-coding regions of DNA
Compare the functions of Introns and Exons

DNA of a human cell is 2.3 m (7.5 ft) in

length if placed end to end while the nucleus
is a few micrometers; packaging/folding of
DNA is necessary
3 *10 9 nucleotide pairs divided into 23 chromosomes

DNA folding
2 main groups of proteins involved in DNA folding:
Histones = positively charged proteins filled with amino
acids Lysine and Arginine.
Nonhistones = less positive

DNA + histones = nucleosomes

DNA + histones + non-histone protein = chromatin

Histones
Histone proteins
H2A
Two copies in each nucleosome
H2B
histone octomer;
H3
H4

10nm fibril
Histone
(H1)

Linker DNA

Chromosome packing
Cell division
attachment of
mitotic spindles
from centromeres
Interphase
chromosome
Transcriptionally
Lamp
active brush
appearance
Solenoid
fibres

Metaphase
chromosome
shortest and thickest

Non histone
protein packing

Histone packing

Beads on a string
appearance
Naked DNA
thinnest and

Karyotype:
The representation of entire metaphase chromosomes in a cell,
arranged in order of size and other characteristics

Examples of abnormal
karyotype

Cont..

Ideogram:
Diagrammatic
representation of a
karyotype:
Individual
chromosomes are
recognized based on:
1. Length of the arm:
p arm = short
arm
q arm = long arm
2. Position of
centromere :

Centromeric position and arm length

Chromosome banding
Q (quinicrine) & G (Giemsa) banding - stain AT rich
regions
R (reverse banding) - stains GC-rich regions
C-banding (denaturation & staining) - constitutive
heterochromatin, found in the centromere regions
and distal Yq

Higher order structure of chromosome

Heterochromatin tightly packed, inactive

region of chromosome
1. Constitutive - Telomere, Centromere.
2. Facultative - x chromosome (barr body)

Euchromatin loosely packed active region

Heterochromatin
Centromere

Telomere

Primary constriction

End structure of
chromosomes

AT rich region

TTAGGG repeats

Kinetochore spindle
attachment

Helps in replicating
chromosome ends
Helps to stabilize
chromosome ends

Human genome
Codes for approximately 30,000 proteins 2% of
DNA.
98% is non-coding regions

Coding and non coding regions of the

gene :
Protein coding regions of DNA are
interrupted by non coding sequences in
eukaryotes.
Coding sequences Exons
Noncoding sequences introns

Intro
ns

Intro
ns

Gene after
removal of
introns

Non coding regions of the DNA

Does not yield any gene product.
They are repetitive sequences.
Uses :
1. Evolution (new mutations)
2. Genetic rearrangement
3. Regulatory regions of the gene
4. These sequences are specific for individuals
Used for DNA fingerprinting, paternity disputes etc.

Types of non-coding regions

Satellite DNA : variable number tandem repeats
(VNTRs) (100kb 1mb)
Minisatellite DNA : Telomeres (0.1 -20kb)
Microsatellite repeat sequence (<100bp)
Transposons jumping DNA (size of mini satellite)
a. SINEs alu repeats (most abundant sequence)
b. LINEs -

Types of transposition:
Conservative : piece of double stranded DNA
detaches from one chromosome to a different
chromosome
Retro transposition : produce m-RNA which later
produces double stranded DNA
Enzymes involved are :
1. Transposase
2. Integrase
3. Reverse transcriptase for retro transposition

Crossing over in Meiosis

 Mitosis

Meiosis

Somatic cell reproduction,

general growth & repair

Sexual reproduction

Daughter cells are genetically

identical

Genetically different

No crossing over or mixing of

chromosomes (-ve)

Number of divisions = 1
Number of daughter cells = 2

Crossing over occurs (+ve)

Number of divisions = 2
Number of daughter cells = 4

Chromosome number =
remains the same as the parent

Chromosome number = reduced

by half of the parent

Karyokinesis = occurs in
Interphase
Cytokinesis = occurs in
Telophase
Centromeres split during
Anaphase

Karyokinesis = occurs in
Interphase I
Cytokinesis = occurs in
Telophase I & II
Centromeres split during
Anaphase II

Random combination of gametes

References
Kaplan Biochemistry Notes
Online resources retrieved from:
waynesword.palomar.edu