(Zoology week 2)
1. Mendelian Genetics
1.1 Gregor Mendel and His Contributions
● Gregor Mendel (1865) conducted experiments on pea plants (Pisum sativum) and
formulated the fundamental laws of inheritance.
● He used controlled cross-breeding and statistical analysis to study how traits are
passed from parents to offspring.
1.2 Mendel’s Laws of Inheritance
1.2.1 Law of Segregation
● Each organism carries two alleles for a trait, but only one allele is passed to the
offspring.
● During gamete formation (meiosis), alleles separate randomly so that each gamete
receives only one allele.
● Example: In a monohybrid cross (Tt × Tt), the offspring have a 3:1 phenotypic ratio
for dominant and recessive traits.
1.2.2 Law of Independent Assortment
● Genes for different traits segregate independently during gamete formation.
● This applies only to unlinked genes (genes on different chromosomes).
● Example: A dihybrid cross (AaBb × AaBb) results in a 9:3:3:1 phenotypic ratio.
1.2.3 Law of Dominance
● When two alleles are different, one (dominant) is expressed, and the other
(recessive) is masked.
● Example: T (tall) is dominant over t (short) in pea plants.
2. Inheritance Patterns
2.1 Autosomal vs. Sex-linked Inheritance
● Autosomal inheritance: Genes located on autosomes (chromosomes 1-22).
● Sex-linked inheritance: Genes located on sex chromosomes (X or Y).
2.2 Types of Inheritance Patterns
2.2.1 Complete Dominance
● The dominant allele completely masks the recessive allele.
● Example: Tall (TT or Tt) vs. Short (tt) pea plants.
2.2.2 Incomplete Dominance
● Neither allele is completely dominant, leading to an intermediate phenotype.
● Example: Red (RR) × White (rr) → Pink (Rr) flowers in snapdragons.
2.2.3 Codominance
● Both alleles are fully expressed in the heterozygous state.
● Example: AB blood type (IAIB), where both A and B antigens are expressed.
2.2.4 Multiple Alleles
● More than two alleles exist for a gene.
● Example: Blood group inheritance (IA, IB, i alleles for A, B, O blood groups).
2.2.5 Polygenic Inheritance
● A single trait is controlled by multiple genes (additive effect).
● Example: Skin color, height, eye color.
2.2.6 Pleiotropy
● A single gene influences multiple phenotypic traits.
● Example: Marfan syndrome (mutation in fibrillin gene affects heart, eyes, and
connective tissue).
2.2.7 Epistasis
● One gene masks the expression of another gene.
● Example: Labrador retriever coat color: The E gene controls whether the B gene
(black/brown coat) is expressed.
2.2.8 Sex-linked Inheritance
● Traits linked to X or Y chromosomes.
● Example:
o X-linked recessive: Hemophilia, color blindness (more common in males).
o X-linked dominant: Rett syndrome.
o Y-linked: Male infertility, SRY gene determining maleness.
3. Gene Structure
3.1 Definition of a Gene
● A gene is a functional unit of heredity composed of DNA sequences that code for a
specific protein or RNA.
3.2 Structure of a Gene
3.2.1 Regulatory Regions
● Promoter: Binding site for RNA polymerase, initiating transcription.
● Enhancers & Silencers: Regulate gene expression by interacting with transcription
factors.
3.2.2 Coding Region
● Exons: Sequences that are transcribed and translated into proteins.
● Introns: Non-coding sequences removed by RNA splicing.
3.2.3 Termination Region
● Contains termination signals to stop transcription.
4. Chemical Composition of Genes
4.1 DNA as the Genetic Material
● Genes are composed of deoxyribonucleic acid (DNA), a double-stranded helical
molecule made of:
o Sugar (deoxyribose).
o Phosphate group.
o Nitrogenous bases (Adenine, Thymine, Cytosine, Guanine).
4.2 RNA as Genetic Material in Some Viruses
● Some viruses (e.g., HIV, influenza) use RNA instead of DNA.
● RNA has ribose sugar and Uracil (U) instead of Thymine (T).
4.3 Types of DNA
● A-DNA: Right-handed, dehydrated form.
● B-DNA: Most common, Watson-Crick model.
● Z-DNA: Left-handed, found in specific gene regulation sites.
5. Types of Genes
5.1 Structural Genes
● Encode proteins (e.g., enzymes, structural proteins).
● Example: Hemoglobin gene (HBB).
5.2 Regulatory Genes
● Control the expression of other genes.
● Example: HOX genes regulate body patterning.
5.3 Housekeeping Genes
● Expressed in all cells for basic functions (e.g., actin, GAPDH).
5.4 Pseudogenes
● Non-functional remnants of ancestral genes.
5.5 Oncogenes and Tumor Suppressor Genes
● Oncogenes: Promote cell division (mutations can cause cancer).
● Tumor suppressor genes: Prevent uncontrolled growth (e.g., TP53 gene).
6. Summary of Key Concepts
● Mendelian genetics describes inheritance through dominant and recessive traits.
● Inheritance patterns include dominance, codominance, polygenic traits, and
sex-linkage.
● Gene structure consists of promoters, coding sequences (exons), and regulatory
elements.
● Genes are composed of DNA or RNA and store genetic information.
● Different types of genes include structural, regulatory, housekeeping, and oncogenes.
(Week 1)
Control of cell cycle
1. Introduction to Cell Cycle Control
The cell cycle is tightly regulated to ensure accurate DNA replication and cell division.
Control mechanisms prevent uncontrolled proliferation (which can lead to cancer) and
ensure that cells only divide when conditions are favorable.
2. Major Regulatory Mechanisms of the Cell Cycle
The cell cycle is controlled by:
1. Checkpoints – Ensure key events occur in sequence.
2. Cyclins and Cyclin-Dependent Kinases (CDKs) – Control progression through the
cell cycle.
3. Tumor Suppressor Genes and Oncogenes – Regulate division and prevent
mutations.
3. Checkpoints in the Cell Cycle
Checkpoints act as quality control systems, ensuring that cells do not proceed to the next
phase unless they meet specific criteria.
Checkpoint Location Function
G₁ Checkpoint End of G₁ Checks for DNA damage, cell size, and nutrient
(Restriction Point) phase availability.
End of G₂ Ensures DNA replication is complete and checks
G₂ Checkpoint
phase for errors.
During Ensures all chromosomes are attached to the
M (Spindle) Checkpoint
metaphase spindle before separation.
● If a cell fails a checkpoint, it may enter G₀ phase (quiescence) or undergo apoptosis
(programmed cell death).
4. Role of Cyclins and CDKs
Cyclins and Cyclin-Dependent Kinases (CDKs) regulate the progression of the cell cycle
by forming active cyclin-CDK complexes.
4.1 Cyclins
Proteins that regulate different stages of the cell cycle.
Their levels fluctuate during the cycle.
4.2 Cyclin-Dependent Kinases (CDKs)
Enzymes that activate or inactivate proteins via phosphorylation.
They require cyclins to function.
4.3 Key Cyclin-CDK Complexes
Cyclin CDK Partner Function
Cyclin D CDK4, CDK6 Promotes G₁ progression.
Cyclin E CDK2 Triggers transition from G₁ to S phase.
Cyclin A CDK2 Regulates DNA replication in S phase.
Cyclin B CDK1 Controls entry into mitosis.
● CDK inhibitors (CKIs) prevent uncontrolled cell cycle progression.
5. Role of Tumor Suppressor Genes and Oncogenes
These genes help regulate cell cycle progression and prevent cancer.
5.1 Tumor Suppressor Genes (Stop Cell Cycle if Needed)
p53 – Halts the cycle at G₁ if DNA damage is detected; triggers apoptosis if damage is
severe.
RB (Retinoblastoma protein) – Prevents premature entry into the S phase by inhibiting
transcription factors.
5.2 Oncogenes (Promote Cell Division)
Mutated proto-oncogenes lead to excessive cell division (e.g., RAS gene mutations drive
uncontrolled proliferation).
6. Consequences of Cell Cycle Dysregulation
● Uncontrolled cell division → Cancer.
● Failure to repair DNA damage → Genetic instability.
● Defective apoptosis → Survival of mutated cells.
