REVIEW NOTES IN GEN BIO 2

Phenotype and Genotype

Genotype: The genetic makeup of an organism (e.g., AA, Aa, or aa).
Phenotype: The observable traits of an organism (e.g., eye color, height).
Allele- it describes the various forms of genes representing a particular trait

Homozygous vs. Heterozygous

Homozygous (AA or aa): Two identical alleles for a trait.
Heterozygous (Aa): Two different alleles; dominant trait is expressed
Dominnant vs Recessive traits
Dominant traits appear if at least one dominant allele is present (AA, Aa).
Recessive traits appear only when both alleles are recessive (aa).
Mendel’s Laws of Inheritance
1 Law of Segregation
Each parent contributes one allele for a trait.
Alleles separate during gamete formation (meiosis).
2. Law of Independent Assortment
Genes for different traits are inherited independently (unless linked).
3. Law of Dominance
Dominant alleles mask recessive ones in heterozygous conditions.
Example: If "A" is dominant and "a" is recessive, "Aa" will show the dominant phenotype

Non Mendelian Laws

Incomplete Dominance: Blended traits (e.g., red × white flowers → pink offspring).
Codominance: Both alleles fully expressed (e.g., AB blood type).
Polygenic Traits: Traits controlled by multiple genes (e.g., skin color, height).

Sex linked traits

. Traits controlled by genes located on the sex chromosomes (X or Y).
Sex Chromosomes and Their Role
Males (XY): One X and one Y chromosome.
Females (XX): Two X chromosomes.
The Y chromosome is smaller and carries fewer genes.
X-Linked Traits
Genes located on the X chromosome.
Males express X-linked traits more frequently since they only have one X chromosome.
Examples:
o Color blindness
o Hemophilia
o Duchenne muscular dystrophy
Y-Linked Traits
Genes located on the Y chromososomes
Only passed from father to son.
Example: SRY gene (determines male sex development).
Inheritance Patterns of Sex-Linked Traits
X-Linked Recessive: More common in males (e.g., hemophilia).
X-Linked Dominant: Rare but affects both sexes (e.g., Rett syndrome).

DNA Structure
1. Components of DNA
Nucleotides: Building blocks of DNA, each consisting of:
A phosphate group
o A deoxyribose sugar
o A nitrogenous base (Adenine, Thymine, Cytosine, Guanine)
2. Double Helix Structure
DNA is shaped like a twisted ladder (double helix).
Base Pairing Rules (Chargaff’s Rule):
o Adenine (A) pairs with Thymine (T) (2 hydrogen bonds).
o Cytosine (C) pairs with Guanine (G) (3 hydrogen bonds).
Strands are complementary and antiparallel (5’ to 3’ direction).
3. Function of DNA
Stores genetic information.
Directs the synthesis of proteins.

Proteins and Their Relationship to DNA

1. Role of DNA in Protein Synthesis
Transcription (DNA → mRNA) occurs in the nucleus.
Translation (mRNA → protein) occurs in the ribosome.
2. Structure of Proteins
Amino acids are the building blocks of proteins.
Peptide bonds link amino acids to form polypeptides.
3. Types of Proteins
Structural proteins (e.g., collagen, keratin).
Enzymatic proteins (e.g., DNA polymerase, amylase).
Transport proteins (e.g., hemoglobin).

Steps in DNA Replication and Protein Synthesis

DNA Replication
Definition: The process of copying DNA to ensure genetic information is passed to new cells.
1. Initiation
 The enzyme helicase unwinds and unzips the double helix.
 Replication fork forms.
2. Elongation
 Primase adds an RNA primer.
 DNA polymerase adds complementary nucleotides in a 5’ to 3’ direction.
 Leading strand: Continuous synthesis.
 Lagging strand: Synthesized in short Okazaki fragments.
3. Termination
 DNA ligase joins Okazaki fragments.
 DNA rewinds into a double helix.
 Two identical DNA molecules are formed.

Protein Synthesis
Definition: The process of making proteins from DNA instructions.
1. Transcription (Occurs in Nucleus)
 RNA polymerase binds to DNA and unwinds it.
 mRNA strand is synthesized using complementary base pairing (A-U, C-G).
 mRNA detaches and leaves the nucleus for translation.
2. Translation (Occurs in Ribosome)
 mRNA attaches to ribosome.
 tRNA brings amino acids to match codons on mRNA.
 Peptide bonds form between amino acids to create a polypeptide (protein).
 Process stops at a stop codon.
 DNA replication ensures genetic continuity.
 Protein synthesis creates proteins essential for life.
The Central Dogma of Molecular Biology

The central dogma of molecular biology describes the flow of genetic information within a biological system.
It outlines three main processes:

1. Replication:
o Purpose: To copy the DNA for transmission to daughter cells during cell division.
o Process:
 Enzymes like DNA helicase unwind the double-stranded DNA.
 DNA polymerase synthesizes a complementary strand for each original strand, creating
two identical DNA molecules.
 This ensures genetic consistency across generations.
2. Transcription:
o Purpose: To convert a DNA sequence (gene) into messenger RNA (mRNA).
o Process:
 RNA polymerase binds to the promoter region of a gene.
 It separates the DNA strands and uses one strand as a template.
 Complementary RNA nucleotides are added, forming a single-stranded mRNA.
 The mRNA carries the genetic code from the nucleus to the cytoplasm for translation.
3. Translation:
o Purpose: To synthesize proteins from the mRNA sequence.
o Process:
 Ribosomes bind to the mRNA in the cytoplasm.
 Transfer RNA (tRNA) molecules bring specific amino acids to the ribosome, matching
the mRNA codons with complementary anticodons.
 The ribosome links amino acids in the correct order to form a polypeptide chain.
 The polypeptide folds into a functional protein.

The Process of Genetic Engineering

Definition: Genetic engineering involves manipulating the genetic material (DNA) of an organism to
alter its characteristics.
Purpose: Used for medical, agricultural, and industrial applications.

Key Steps in Genetic Engineering

1. Identification of the Gene of Interest
Gene selection: Identifying a specific gene that encodes the desired trait or function (e.g., insulin
gene).
Analysis: Studying the gene's sequence and function.
2. Isolation of the Gene
Using restriction enzymes: These enzymes cut DNA at specific sequences to isolate the desired gene.
Obtaining the gene: Extracting the gene from the organism's genome.
3. Insertion of the Gene into a Vector
Vector selection: A vector is a carrier, often a plasmid (small circular DNA), that will transport the gene
of interest.
Ligating the gene: Using DNA ligase to join the isolated gene with the vector DNA.
4. Transformation into Host Organism
Bacterial transformation: Introducing the recombinant DNA (gene + vector) into a host organism, such
as bacteria, yeast, or plant cells.
Techniques: Methods like electroporation, heat shock, or viral vectors to insert the DNA into the host.
5. Screening and Selection
Selection markers: Using antibiotic resistance genes or fluorescent markers to identify successful
transformations.
Verification: Ensuring the gene has integrated properly into the host’s genome.

6. Expression of the Gene

Protein production: The host organism produces the protein encoded by the inserted gene.
Harvesting: Isolating and purifying the protein for use (e.g., insulin, enzymes).
. Applications of Genetic Engineering
1. Medical Applications
 Gene therapy: Correcting genetic disorders by inserting or modifying genes in a patient's cells.
 Pharmaceutical production: Producing drugs, hormones, and vaccines (e.g., human insulin, growth
hormone).
2. Agricultural Applications
 Genetically modified organisms (GMOs): Creating crops with enhanced traits, such as pest resistance,
drought tolerance, or improved nutritional content

3. Industrial Applications
 Bioengineering: Using genetically engineered microorganisms for waste management, biofuels, and
other industrial processes.

Steps in DNA Replication and Protein Synthesis

I. DNA Replication
Definition: The process of copying DNA to ensure genetic information is passed to new cells.
1. Initiation
 The enzyme helicase unwinds and unzips the double helix.
 Replication fork forms.
2. Elongation
 Primase adds an RNA primer.
 DNA polymerase adds complementary nucleotides in a 5’ to 3’ direction.
 Leading strand: Continuous synthesis.
 Lagging strand: Synthesized in short Okazaki fragments.
3. Termination
 DNA ligase joins Okazaki fragments.
 DNA rewinds into a double helix.
 Two identical DNA molecules are formed.

Protein Synthesis
Definition: The process of making proteins from DNA instructions.
2. Transcription (Occurs in Nucleus)
 RNA polymerase binds to DNA and unwinds it.
 mRNA strand is synthesized using complementary base pairing (A-U, C-G).
 mRNA detaches and leaves the nucleus for translation.
3. Translation (Occurs in Ribosome)
 mRNA attaches to ribosome.
 tRNA brings amino acids to match codons on mRNA.
 Peptide bonds form between amino acids to create a polypeptide (protein).
 Process stops at a stop codon.
Descent with Modification from Common Ancestors

 Definition: Descent with modification refers to the passing of traits from parent organisms to their
offspring, leading to evolutionary changes over generations.
 Importance: This concept explains how species evolve and share common ancestry.

Principles of Descent with Modification

1. Common Ancestry
 All living organisms share a common ancestor.
 Evidence is found in fossils, DNA, and anatomical similarities.
2. Natural Selection as a Mechanism
 Proposed by Charles Darwin in On the Origin of Species (1859).
 Organisms with favorable traits survive and reproduce, passing traits to offspring.
3. Genetic Variation and Adaptation
 Genetic mutations introduce variation.
 Beneficial traits become more common over generations.
 Example: Peppered moths during the Industrial Revolution.
4. Speciation and Divergence
 Over time, accumulated changes lead to the formation of new species.
 Adaptive radiation: One species evolves into many (e.g., Darwin’s finches).

5. Evidence Supporting Descent with Modification

 Fossil Record: Transitional fossils show gradual changes (e.g., whale evolution).
 Comparative Anatomy:
o Homologous structures (e.g., bat wings, human arms).
o Vestigial structures (e.g., whale pelvic bones).
 Genetic Similarities: Shared DNA sequences suggest common ancestry.
 Embryological Evidence: Similar embryonic development in vertebrates.

The General Features of the History of Life on Earth.

Major Eras and Events in the History of Life

1. The Hadean Eon (4.6 – 4.0 Billion Years Ago)

 Formation of Earth: The planet forms from dust and gas in the solar system.
 Early Conditions: Earth is hot, molten, and bombarded by asteroids.
 Origins of Life: The earliest signs of life, such as simple organic molecules, may have appeared around
4.0 billion years ago

2. The Archaean Eon (4.0 – 2.5 Billion Years Ago)

 First Life Forms: Prokaryotes (bacteria and archaea) emerge.

 Development of Photosynthesis: Cyanobacteria begin photosynthesizing, releasing oxygen as a
byproduct.
 Formation of Early Atmosphere: Oxygen starts to accumulate, leading to the Great Oxygenation
Event.

3. The Proterozoic Eon (2.5 Billion – 541 Million Years Ago)

 Eukaryotic Cells: The first eukaryotic cells (cells with a nucleus) appear.
 Multicellular Life: Simple multicellular organisms emerge.
 Snowball Earth: Ice ages cause extreme cooling, leading to global glaciation events.
4. The Phanerozoic Eon (541 Million Years Ago – Present)

Paleozoic Era (541 – 252 Million Years Ago)

o Cambrian Explosion: A rapid diversification of life forms, with many modern animal phyla
appearing.
o First Land Plants: Early vascular plants and fungi colonize land.
o First Vertebrates: Fish evolve, followed by the first amphibians and reptiles.
 Mesozoic Era (252 – 66 Million Years Ago)
o Age of Dinosaurs: Dinosaurs dominate land, and the first mammals and birds
appear.
o Flowering Plants: Angiosperms (flowering plants) evolve and diversify.
o Cretaceous-Paleogene Extinction: A mass extinction event wipes out the dinosaurs.
 Cenozoic Era (66 Million Years Ago – Present)
o Rise of Mammals: Mammals diversify, and early primates evolve.
o Human Evolution: Humans evolve from primates and become the dominant species on Earth.
o Ice Ages: Glacial cycles occur, shaping ecosystems and climate

 Fossils: Physical evidence of ancient organisms found in rock layers.

 Arrangement of events from oldest to present- Precambrian, Paleozoic, Mesozoic, Cenozoic
 4 GROUPS OF Geologic Time Scale -Eon, Era, Period, Epoch

Evidence of Evolution

 Definition: Evidence of evolution refers to scientific proof supporting the theory that species change
over time through natural selection and other evolutionary mechanisms.
 Importance: Understanding evolution helps explain the diversity of life and relationships between
species.
Paleontology- study of fossils
Types of Evidence for Evolution
1. Fossil Evidence
 Fossils provide a historical record of life on Earth.
 Transitional fossils show intermediate forms between ancestral and modern species (e.g.,
Archaeopteryx linking dinosaurs to birds).
2. Comparative Anatomy
 Homologous Structures: Similar structures with different functions, indicating common ancestry (e.g.,
human arm and whale fin).
 Analogous Structures: Different structures with similar functions, showing convergent evolution (e.g.,
bird wings and insect wings).
 Vestigial Structures: Reduced or nonfunctional structures that were useful in ancestors (e.g., human
appendix, whale pelvis).
3. Comparative Embryology
 Similar embryonic development among different species suggests common ancestry (e.g., vertebrate
embryos with gill slits and tails

4. Molecular Evidence (DNA and Proteins)

 Similar DNA and protein sequences indicate evolutionary relationships.
 Example: Humans share 98-99% of their DNA with chimpanzees.