Unit 5-Variation and
selction
Isini Sehansa Amarathunga
Bsc(Hons) in Biomedical Science
16-chromosomes,genes and DNA
Structure of the DNA
Discovery of DNA Structure:
• James Watson and Francis Crick discovered the DNA double-helix structure in
1953 at Cambridge University.
• They received the Nobel Prize in 1962 for their discovery.
Rosalind Franklin's Contribution:
• Franklin used X-ray diffraction to study molecular structures, which was
crucial for Watson and Crick's work.
• She passed away in 1958 and could not share the Nobel Prize.
Genes are short lengths of DNA that code for a protein.
They are found on chromosomes
DNA Structure:
• DNA is composed of
two strands forming a
double helix.
• Each strand consists of
nucleotides, which have:
A sugar molecule
(deoxyribose).
A phosphate group.
A nitrogen-
containing base.
Nitrogen Bases:
Complementary Base Pairing:
• Four bases: Adenine (A), Thymine • A and T are complementary,
(T), Cytosine (C), and Guanine (G). as are C and G.
• Base pairing rules: • Complementary bases
• Adenine pairs with Thymine (A-T). always pair specifically,
• Cytosine pairs with Guanine (C- maintaining the DNA
G). structure.
• Bases are held together by
hydrogen bonds.
DNA Replication:
• Occurs before cell division to ensure each new cell gets the
same amount and type of DNA.
• The process ensures identical copies of DNA are formed.
• DNA is unique in its ability to replicate itself exactly.
• This replication allows DNA to pass genetic information from one
generation to the next.
• The genetic information is transferred in the form of a "genetic
code."
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Steps in DNA Replication:
1. The two strands of DNA separate.
2. Each strand acts as a template for forming a new complementary
strand.
3. DNA polymerase assembles nucleotides into two new strands
based on base-pairing rules (A pairs with T, and C pairs with G).
4. Two identical DNA molecules are produced, each containing one
parent strand and one new complementary strand.
The Genetic code
Template Strand
• Only one DNA strand codes for protein production, known as the template
strand; the other is the non-template strand.
Amino Acid Coding:
Proteins are chains of amino acids. Three DNA bases (triplet) on the template
strand code for one amino acid.
Example: The DNA triplet TGT codes for the amino acid cysteine.
Triplet Code:
• DNA's coding system is called a triplet code due to the three-base sequence.
The triplet code Gene : A gene is
a section of
DNA that codes
for a specific
protein.
• Universal Genetic Code: The triplet DNA code is the same across all organisms. For
example, the sequence TGT codes for the amino acid cysteine in humans and other
species.
DNA and RNA Differences:
• DNA is a double helix; RNA is single-stranded.
• DNA contains deoxyribose sugar; RNA contains ribose sugar.
• RNA uses uracil (U) instead of thymine (T).
Types of RNA in Protein Synthesis:
• Messenger RNA (mRNA) copies the DNA code.
• Transfer RNA (tRNA) transports amino acids to ribosomes to build proteins.
• Ribosomal RNA (rRNA) forms part of ribosomes, which are made of RNA and
protein.
Transcription
occurs in the
nucleus and
produces a
molecule of
single-stranded
mRNA
Base-pairing rules
Complete the table
Translation occurs on the
ribosomes in the cytoplasm,
and results in the production
of a chain of amino acids.
Note that you don't need to
know the details about start
codons shown here.
Tranlation summary
Result of mutations
Advantage of Mutations | Disadvantage of
Mutations
Chromosome Structure
• A chromosome is a thread-like structure composed of DNA tightly coiled around
proteins called histones, forming a complex that is visible during cell division
Structure of a Chromosome:
•Composed of DNA – Each chromosome contains a double-stranded DNA molecule.
•Wrapped around histones – DNA coils around histone proteins to form
nucleosomes.
•Supercoiling – Nucleosomes further coil into a compact, supercoiled structure.
•Efficient packaging – This organization allows the long DNA molecule to fit inside
the nucleus.
•Carries genes – Each chromosome contains specific genes that determine traits.
•Different chromosomes, different genes – Each chromosome holds a unique set of
genes.
Human Chromosomes
1. Chromosome Pairing
• Humans have 46 chromosomes arranged in 23 pairs.
• 22 pairs are autosomes, and 1 pair are sex chromosomes
(XX for females, XY for males).
• Homologous pairs carry the same genes in the same
locations.
• Cells with chromosome pairs are called diploid cells.
2. Haploid and Diploid Cells
• Diploid cells (2n) have 46 chromosomes (23 pairs).
• Haploid cells (n) (gametes: sperm & egg) have 23
chromosomes (one from each pair).
• Haploid cells are formed by meiosis.
• When gametes fuse in fertilization, they form a zygote,
restoring the diploid number.
Role of Chromosomes
• Carry genetic information in the form of DNA.
• Control inheritance and determine traits.
• Sex chromosomes (X and Y) determine biological sex.
Human Genome
Definition
• The genome is the entire DNA present in a diploid cell.
• It contains all the genetic material needed for an organism's growth
and function.
. Genome Size
• The human genome consists of about 3.2 billion base pairs.
• Only a small portion of the genome codes for proteins.
Protein-Coding Genes
• The human genome contains approximately 20,000–25,000
protein-coding genes.
• These genes make up only about 1.5% of total DNA.
Non-Coding DNA
• The majority of DNA does not code for proteins.
• Some regions have known functions, while others remain
unknown.
1. Alleles and Genes
• Alleles are different forms of the same gene.
• Example: The gene for earlobe attachment has two alleles—attached
and free earlobes.
3. Dominant and Recessive Alleles
Dominant allele: Shows its effect even if there is only one copy. (e.g., Free
earlobe)
Recessive allele: Only appears if both copies are recessive. (e.g., Attached
earlobe)
Explanation:
• Each cell has two copies of a chromosome, meaning two copies of each gene.
• If a person has one allele for attached earlobes and one for free earlobes, the
free earlobe allele is dominant.
• A dominant allele expresses its trait even if only one copy is present.
• The attached earlobe allele is recessive, meaning it only appears if both copies
are recessive.
17-Cell devision
Steps
The process of cell division by
mitosis
The process of cell division by
meiosis to produce haploid
gamete cells
Sexual Reproduction and Variation
• Involves the fusion of two gametes to form a zygote.
• Offspring show genetic variation due to:
• Variation in gametes.
• Random fertilization process.
In humans:
• About 8.5 million different types of sperm and ova.
• Possible chromosome combinations in the zygote: 7.2 × 10¹³ (72 trillion).
Cell Division and Variation in plants
• Seeds in plants are also produced by sexual reproduction.
• Each seed contains an embryo formed by fusion of pollen and
egg cell nuclei.
• Variation occurs due to different pollen grains fertilizing eggs
from different plants.
Asexual Reproduction and Cloning
Examples of Asexual Reproduction
• Plants: Flower bulbs grow and divide asexually each season to produce
more bulbs.
• Animals: Some animals also reproduce asexually.
Genes and Environment Producing Variation
Both genes and the environment contribute to variation in
organisms.
Genetic factors determine whether a pea plant is tall or
short.
Environmental factors cause further height differences within
each genetic group.
Even if plants have the same genes, their final height can vary
due to external conditions such as nutrients and sunlight.
Variation in living organisms is influenced by a combination of
inherited traits and environmental effects.