Nucleotides and DNA
A nucleotide is the basic structural unit and building block
for DNA.
These building blocks are hooked together to form a chain
of DNA.
A nucleotide is composed of 3 parts:
five-sided sugar
phosphate group One nucleotide
nitrogenous base
1. Nitrogenous bases
o DNA contains adenine (A), guanine (G), cytosine (C) and thymine (T)
o Whereas RNA contains adenine, guanine, cytosine and uracil (U).
2. Pentose Sugar – Ribose and Deoxyribose
o A nucleotide comprises a pentose sugar. DNA
(Deoxyribonucleic acid) contains deoxyribose sugar, and
RNA (Ribonucleic acid) contains ribose sugar.
3. Phosphate group
o The phosphate group is attached to two adjacent sugar
molecules, connecting the nucleotides.
Q. How Nucleotides Connect?
Nucleotides link together via the phosphate group of one
nucleotide and the sugar of the next, forming a sugar-phosphate
backbone.
This creates a single strand of DNA, with the nitrogenous bases
sticking out from the backbone. One DNA strand
Formation of the Double Helix
DNA is double-stranded, with two nucleotide chains
running in opposite directions (antiparallel).
The nitrogenous bases pair specifically:
o Adenine (A) pairs with Thymine (T)
o Cytosine (C) pairs with Guanine (G)
These base pairs form the rungs of a twisted ladder,
while the sugar-phosphate backbones form the sides.
The entire structure twists into a double helix.
How DNA is arranged into chromosomes
Here are the key steps in forming chromosomes:
The long, double-stranded DNA molecule
wraps around specific proteins called
histones.
A group of eight histone proteins forms a
core complex, and the DNA coils around
this core, forming a unit.
Millions of these units then coil and stack
together, to form a continuous fiber known
as chromatin
The chromatin fiber undergoes further
folding and looping, utilizing other proteins
to help organize it.
This highly condensed, organized structure
is then known as a chromosome.
Why is DNA packaged into chromosomes?
Space Efficiency:
This packaging allows a vast amount of DNA to fit into the microscopic nucleus of each cell.
Damage Prevention:
It protects the DNA from damage and tangling during normal cell function and cell division.
Organisation:
Chromosomes provide a means to organise genetic material, ensuring it is properly replicated and passed
on to daughter cells during cell division.
Genome
Definition
The genome is the entire genetic information of an organism.
It contains all the genes and non-coding DNA (DNA that does not give information to make any
proteins).
Where is it found?
In humans, most of the genome is in the nucleus as chromosomes.
A small amount is in the mitochondria.
Human Genome
Humans have 46 chromosomes (23
pairs).
About 20,000–25,000 genes.
The Human Genome Project mapped
all human genes.
Importance of the Genome
Determines characteristics (eye
color, blood type, etc.).
Helps in medical research (genetic disorders).
Used in forensics and evolutionary studies.
Q. What are Chromosome Number Mutations?
These are mutations where the number of chromosomes changes, not the structure.
They usually occur due to chromosomes failing to separate properly during meiosis.
Type of Mutation Example Chromosome Number Key Features
(Syndrome)
Monosomy Turner 45, X (only one X Short stature, infertile female, webbed
syndrome chromosome, no Y) neck.
Trisomy 21 Down 47, +21 (extra Intellectual disability, round face, short
syndrome chromosome 21) stature, and heart defects are common.
Trisomy 18 Edwards 47, +18(extra Severe developmental problems, small
syndrome chromosome 18) head/jaw, clenched fists, usually early
death.
Trisomy 13 Patau 47, +13(extra Severe brain/organ defects, cleft
syndrome chromosome 13) lip/palate, and usually early death.
Trisomy (Sex Klinefelter 47, XXY (extra X in Tall, infertile male, small testes,
Chromosomes) syndrome males) sometimes learning difficulties.