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Beginning of Genetics
Historical Context: The study of heredity dates back to ancient times but became a formal science in the 19th century.
Gregor Mendel: Often referred to as the "Father of Genetics," Mendel conducted experiments on pea plants in the mid-1800s, establishing
the foundation for modern genetics.
Key Observations: Mendel's observations of trait inheritance led to the formulation of several key principles, including the concepts of
dominant and recessive traits.
2. Early Concepts of Inheritance
Blending Inheritance: Before Mendel, it was widely believed that traits from parents blended together in offspring, leading to intermediate
traits.
Particulate Inheritance: Mendel proposed that traits are inherited as discrete units (genes), which do not blend but remain intact through
generations.
F2 Generation: The appearance of traits in the F2 generation disproved the blending theory, as traits reappeared after skipping a generation.
3. Mendel’s Laws
Law of Segregation: During the formation of gametes, alleles for each gene segregate from each other so that each gamete carries only one
allele for each gene.
Law of Independent Assortment: Genes for different traits assort independently of one another in the formation of gametes, provided the
genes are on different chromosomes.
4. Discussion on Mendel’s Paper
Title: Mendel's seminal paper, "Experiments on Plant Hybridization," published in 1866, presented his findings on inheritance patterns.
Methodology: Mendel's meticulous approach included controlled breeding experiments and statistical analysis of traits over multiple
generations.
Impact: His work went largely unrecognized during his lifetime but later became foundational for the field of genetics.
5. Chromosomal Theory of Inheritance
Definition: Proposes that genes are located on chromosomes, and it is the behavior of chromosomes during meiosis that accounts for
inheritance patterns.
Key Contributors: Scientists like Walter Sutton and Theodor Boveri contributed to the development of this theory in the early 20th century.
Link to Mendel: The chromosomal theory provided a physical basis for Mendel’s laws, linking physical structures (chromosomes) to heredity.
6. Multiple Alleles
Definition: A single gene can have more than two alleles in the population (e.g., ABO blood types).
Allelic Relationships: The expression of traits can result from interactions between multiple alleles, leading to a variety of phenotypes.
Example: The ABO blood group system illustrates multiple alleles, with A, B, and O alleles showing codominance and complete dominance.
7. Gene Interactions
Epistasis: Occurs when the effect of one gene is influenced by one or more other genes, which can mask the expression of another gene.
Complementation: Refers to the situation where two different mutations in two different genes produce a wild-type phenotype when
combined in the same organism.
Polygenic Inheritance: Traits influenced by multiple genes result in a continuous range of phenotypes (e.g., height, skin color).
8. Sex Determination, Differentiation, and Sex-Linkage
Sex Determination: Refers to the biological mechanisms that dictate the development of sexual characteristics, typically involving sex
chromosomes (e.g., XX for female, XY for male).
Sex-Linkage: Genes located on sex chromosomes exhibit different inheritance patterns, with X-linked traits more commonly affecting males
(e.g., hemophilia).
Sex Differentiation: Refers to the process by which individuals develop male or female physical characteristics influenced by genetic and
environmental factors.
9. Sex-Influenced and Sex-Limited Traits
Sex-Influenced Traits: Traits that are expressed differently in males and females, often due to hormonal differences (e.g., male pattern
baldness).
Sex-Limited Traits: Traits that are expressed only in one sex, regardless of the genotype present in the other sex (e.g., milk production in
female mammals).
Genetic Basis: Both types of traits demonstrate the complexity of gene expression and regulation influenced by sex.
10. Linkage Detection and Estimation
Genetic Linkage: Genes located close to each other on the same chromosome tend to be inherited together, violating Mendel's law of
independent assortment.
Linkage Maps: Scientists use recombination frequency to create genetic maps that show the relative positions of genes on chromosomes.
Estimation Techniques: Techniques such as test crosses and molecular markers help estimate linkage and genetic distance.
11. Recombination and Genetic Mapping in Eukaryotes
Recombination: The exchange of genetic material between homologous chromosomes during meiosis leads to genetic diversity.
Genetic Mapping: Involves determining the location of genes on chromosomes using recombination frequencies; used to create linkage
maps.
Molecular Markers: Modern genetic mapping often employs molecular markers (e.g., SNPs) for more precise mapping of traits.
12. Somatic Cell Genetics
Definition: The study of genetic makeup and behavior of somatic cells (non-germline cells) to understand gene function and regulation.
Applications: Useful in cancer research, genetic engineering, and understanding developmental biology.
Techniques: Includes cell fusion, chromosome mapping, and analysis of gene expression in various cell types.
13. Extrachromosomal Inheritance
Definition: Inheritance of traits not located on chromosomes, typically involving extranuclear DNA (e.g., mitochondrial DNA).
Mitochondrial Inheritance: Mitochondria, inherited maternally, can carry mutations that affect cellular metabolism and are linked to various
diseases.
Plasmids in Bacteria: Bacterial plasmids are extrachromosomal DNA that can carry antibiotic resistance genes and contribute to horizontal
gene transfer.
1. Beginning of Genetics
Ancient Understanding: Early ideas of heredity can be traced back to ancient civilizations, where farmers selectively bred plants and animals
based on desirable traits, unknowingly practicing genetic principles.
Early Theories: Theories before Mendel included the "blending inheritance" concept and "pangenesis," proposed by Charles Darwin, which
suggested that all body parts contributed to the reproductive material.
2. Early Concepts of Inheritance
Lamarckism: Jean-Baptiste Lamarck proposed that organisms could pass traits acquired during their lifetime to offspring (e.g., giraffes
stretching their necks), an idea later discredited by Mendelian genetics.
Mendel's Experiments: Mendel focused on discrete traits in pea plants (e.g., flower color, seed shape) to formulate hypotheses about
inheritance, establishing the basis for predicting genetic outcomes.
3. Mendel’s Laws
Monohybrid Crosses: Mendel’s experiments with a single trait led to the formulation of the Law of Segregation, which was demonstrated
through ratios in the F2 generation.
Dihybrid Crosses: Mendel's dihybrid crosses (studying two traits simultaneously) illustrated the Law of Independent Assortment, resulting in
a phenotypic ratio of 9:3:3:1 in the F2 generation.
4. Discussion on Mendel’s Paper
Rediscovery of Mendel: Mendel’s work was largely ignored until the early 1900s when scientists like Hugo de Vries and Carl Correns
independently rediscovered his principles, establishing the foundation of modern genetics.
Mendelian Traits: Traits studied by Mendel are now known as Mendelian traits and can be predicted using Punnett squares, contributing to
the understanding of inheritance patterns.
5. Chromosomal Theory of Inheritance
Chromosome Behavior: The chromosomal theory was solidified through observations of chromosome behavior during meiosis and
fertilization, which aligned with Mendelian ratios.
Haploid and Diploid Cells: Understanding that gametes are haploid (having one set of chromosomes) and zygotes are diploid (having two
sets) was crucial to the chromosomal theory.
Genetic Linkage and Crossing Over: The concepts of genetic linkage and crossing over during meiosis provided insights into the physical basis
of Mendelian inheritance.
6. Multiple Alleles
Example of Multiple Alleles: The ABO blood group system is an example where three alleles (IA, IB, i) determine four phenotypes (A, B, AB,
O) through codominance and complete dominance.
Importance in Genetics: Understanding multiple alleles is crucial in fields like genetics, medicine (e.g., blood transfusion compatibility), and
anthropology (evolutionary studies).
7. Gene Interactions
Complementary Genes: Genes that work together to produce a phenotype; both genes must be present for the trait to be expressed (e.g.,
sweet corn kernel color).
Modifier Genes: Genes that can enhance or suppress the expression of another gene, influencing traits in various organisms.
Pleiotropy: A single gene can affect multiple phenotypic traits (e.g., Marfan syndrome affects connective tissues and can influence height,
heart health, and vision).
8. Sex Determination, Differentiation, and Sex-Linkage
Environmental Influences: Some species have environmental sex determination, where environmental factors (temperature, population
density) influence whether offspring develop as male or female (e.g., certain reptiles).
X-Linked Inheritance: Conditions like color blindness and Duchenne muscular dystrophy are examples of X-linked disorders, which affect
males more frequently due to their single X chromosome.
Y Chromosome Functions: The Y chromosome contains the SRY gene, which triggers male development and differentiates male from female
in mammals.
9. Sex-Influenced and Sex-Limited Traits
Sex-Influenced Traits: These traits can be expressed in both sexes but manifest differently due to hormonal influences; for example, the
allele for baldness is dominant in males but recessive in females.
Examples of Sex-Limited Traits: Traits like the presence of antlers in male deer are limited to one sex but controlled by genes that may be
present in both sexes.
10. Linkage Detection and Estimation
Recombination Frequency: The frequency of recombination between genes is used to create linkage maps, which help identify the relative
positions of genes on chromosomes.
Genetic Markers: Molecular markers, such as SNPs (Single Nucleotide Polymorphisms) and microsatellites, are used to detect linkage and
genetic diversity in populations.
11. Recombination and Genetic Mapping in Eukaryotes
Mechanism of Recombination: During prophase I of meiosis, homologous chromosomes undergo crossing over, exchanging segments of
DNA, contributing to genetic variation.
Importance of Genetic Maps: Genetic maps are critical for identifying genes associated with diseases and for crop improvement through
marker-assisted selection in agriculture.
12. Somatic Cell Genetics
Chromosomal Aberrations: Studying somatic cells can reveal chromosomal abnormalities, which may lead to cancer or genetic disorders.
Hybridoma Technology: This technique allows for the creation of monoclonal antibodies by fusing somatic cells with myeloma cells, enabling
the study of specific proteins.
13. Extrachromosomal Inheritance
Mitochondrial DNA: In humans and many organisms, mitochondrial DNA is inherited maternally and can show unique inheritance patterns
and mutations linked to specific diseases.
Plasmids in Biotechnology: Plasmids are widely used in genetic engineering to transfer genes of interest into host organisms, playing a
crucial role in producing insulin, vaccines, and genetically modified organisms (GMOs).
Mendelian Population
Definition: A Mendelian population is a group of interbreeding individuals that share a common gene pool, where genetic variation is
maintained through sexual reproduction.
Characteristics:
o Individuals within the population can interbreed, leading to genetic mixing.
o The population may exhibit various traits influenced by Mendelian inheritance patterns (dominance, recessiveness, segregation).
o It serves as a basis for studying inheritance patterns and genetic diversity.
Significance: Understanding Mendelian populations is crucial for studying evolution, population genetics, and conservation biology.
Random Mating Population
Definition: A random mating population is one in which individuals pair up to mate without regard to their genotypes or phenotypes.
Characteristics:
o Random mating ensures that all individuals have an equal chance of mating, leading to stable allele frequencies over generations.
o It does not lead to changes in allele frequencies by itself; other evolutionary forces must act for changes to occur.
Significance: Random mating is a critical assumption in the Hardy-Weinberg equilibrium, allowing researchers to predict genetic variation
and the distribution of alleles.
Frequencies of Genes and Genotypes
Gene Frequency: The proportion of a specific allele in a population, calculated by dividing the number of copies of that allele by the total
number of alleles for that gene.
Genotype Frequency: The proportion of different genotypes (homozygous dominant, heterozygous, homozygous recessive) in a population.
Calculating Frequencies:
o If ppp is the frequency of the dominant allele and qqq is the frequency of the recessive allele, then p+q=1p + q = 1p+q=1.
o Genotype frequencies can be derived from allele frequencies, with the relationship defined by p2p^2p2, 2pq2pq2pq, and q2q^2q2
for homozygous dominant, heterozygous, and homozygous recessive, respectively.
Significance: Understanding these frequencies helps in studying genetic diversity, evolution, and the impact of selection pressures on
populations.
Causes of Change
Evolutionary Forces:
o Natural Selection: Differential survival and reproduction of individuals due to advantageous traits, leading to changes in allele
frequencies over time.
o Genetic Drift: Random changes in allele frequencies, particularly in small populations, that can lead to the loss of genetic variation.
o Mutation: Permanent alterations in the DNA sequence that introduce new alleles into a population.
o Gene Flow (Migration): The movement of individuals and their genetic material into or out of a population, affecting allele
frequencies.
Significance: These factors contribute to the evolution of species and the dynamics of genetic variation within populations.
Hardy-Weinberg Equilibrium
Definition: The Hardy-Weinberg equilibrium describes a theoretical state in which allele and genotype frequencies remain constant from
generation to generation in a population that is not evolving.
Conditions for Equilibrium:
o No mutations occur.
o No gene flow (migration) occurs.
o The population is infinitely large (no genetic drift).
o Mating is random (no selection).
o No natural selection occurs.
Mathematical Representation: The equilibrium can be represented by the equations:
o p+q=1p + q = 1p+q=1 (for allele frequencies)
o p2+2pq+q2=1p^2 + 2pq + q^2 = 1p2+2pq+q2=1 (for genotype frequencies)
Significance: The Hardy-Weinberg principle serves as a null hypothesis for studying evolutionary change. Deviations from the equilibrium
indicate that one or more of the conditions are not being met, signaling ongoing evolutionary processes.
Mendelian Population
Gene Pool: The total collection of genes and alleles present in the population, providing the raw material for evolution.
Population Structure: Mendelian populations can be subdivided into smaller groups (subpopulations) that may experience different selective
pressures.
Genetic Variation: The level of genetic variation within a Mendelian population is essential for adaptation and survival in changing
environments.
Example: A population of pea plants where certain traits, such as flower color or seed shape, can be tracked through generations following
Mendel's laws.
Random Mating Population
Assumptions of Random Mating: All individuals have an equal chance of mating, regardless of their genetic characteristics, which ensures
genetic diversity.
Consequences of Non-Random Mating: Inbreeding can increase homozygosity and may lead to inbreeding depression, while assortative
mating can increase the frequencies of certain genotypes.
Models of Mating Systems: Different mating systems can be modeled mathematically to predict the effects on allele frequencies and genetic
diversity.
Frequencies of Genes and Genotypes
Allele Frequency Calculation: If a population has 100 individuals with two alleles AAA (dominant) and aaa (recessive), and 60 individuals are
AAAAAA, 30 are AaAaAa, and 10 are aaaaaa:
o Total alleles = 200 (2 alleles per individual).
o Frequency of AAA (dominant) = (2×60+30)/200=0.75(2 \times 60 + 30) / 200 = 0.75(2×60+30)/200=0.75.
o Frequency of aaa (recessive) = (2×10+30)/200=0.25(2 \times 10 + 30) / 200 = 0.25(2×10+30)/200=0.25.
Genotypic Frequency Calculation: Using the same example:
o Frequency of AAAAAA = 60/100=0.660 / 100 = 0.660/100=0.6
o Frequency of AaAaAa = 30/100=0.330 / 100 = 0.330/100=0.3
o Frequency of aaaaaa = 10/100=0.110 / 100 = 0.110/100=0.1
Causes of Change
Natural Selection Mechanisms:
o Directional Selection: Favors one extreme phenotype, leading to a shift in the population's traits.
o Stabilizing Selection: Favors intermediate phenotypes, reducing variation.
o Disruptive Selection: Favors extreme phenotypes at both ends, potentially leading to speciation.
Genetic Drift:
o Founder Effect: When a small group breaks off from a larger population to form a new population, leading to reduced genetic
diversity.
o Bottleneck Effect: A significant reduction in population size due to environmental events, leading to loss of genetic diversity.
Mutation Rates: Mutations can be spontaneous or induced by environmental factors, playing a critical role in generating genetic diversity.
Gene Flow Impact: Migration can introduce new alleles into a population, increasing genetic variability and potentially altering allele
frequencies.
Hardy-Weinberg Equilibrium
Usefulness in Population Genetics: The Hardy-Weinberg equilibrium serves as a baseline for detecting evolutionary forces acting on a
population.
Testing Equilibrium: By comparing observed genotype frequencies with expected frequencies based on the Hardy-Weinberg principle,
researchers can determine if evolution is occurring.
Applications: The principle is often applied in conservation genetics, epidemiology, and understanding disease dynamics in populations.
Limitations: Real populations rarely meet all the Hardy-Weinberg assumptions; thus, deviations often reveal important evolutionary insights.
1. Nature, Structure, and Replication of the Genetic Material
Nature of Genetic Material: DNA (deoxyribonucleic acid) and RNA (ribonucleic acid) serve as genetic material in organisms, with DNA being
more stable and primarily found in the nucleus of eukaryotes.
Structure of DNA: Composed of two strands forming a double helix; each strand consists of nucleotides (adenine, thymine, cytosine, and
guanine).
Base Pairing: Adenine pairs with thymine (A-T), and cytosine pairs with guanine (C-G) through hydrogen bonds.
Replication Process:
o Initiation involves unwinding the double helix (helicase).
o DNA polymerase synthesizes new strands in a 5' to 3' direction.
o Leading strand is synthesized continuously, while the lagging strand is synthesized in Okazaki fragments.
o DNA ligase joins the fragments together.
2. Organization of DNA in Chromosomes
Chromosome Structure: Composed of chromatin (DNA and proteins); the basic unit of chromatin is the nucleosome (DNA wrapped around
histones).
Eukaryotic vs. Prokaryotic: Eukaryotic chromosomes are linear, while prokaryotic chromosomes are circular and typically have fewer
associated proteins.
Number of Chromosomes: Species-specific; humans have 46 chromosomes (23 pairs).
Condensation: Chromosomes condense during cell division, making them visible under a microscope.
3. Genetic Code
Codons: Triplet sequences of nucleotides in mRNA that correspond to specific amino acids.
Universal Code: Shared by almost all organisms, indicating a common evolutionary origin.
Redundancy: Most amino acids are encoded by more than one codon (degenerate code).
Start and Stop Codons: AUG initiates translation (codes for methionine), while UAA, UAG, and UGA signal termination.
4. Protein Biosynthesis
Transcription: Process where RNA polymerase synthesizes mRNA from the DNA template in the nucleus.
Translation:
o Occurs in ribosomes, where mRNA is decoded to synthesize proteins.
o Involves tRNA, which brings specific amino acids to the ribosome.
o Ribosomal RNA (rRNA) forms the core of the ribosome’s structure and catalyzes peptide bond formation.
Post-translational Modifications: Proteins undergo modifications such as phosphorylation, glycosylation, and cleavage, affecting their
function and activity.
5. Genetic Fine Structure Analysis
Fine Structure: Detailed analysis of genes to determine their internal organization and function.
Techniques Used: Include restriction mapping, sequencing, and genetic complementation tests.
Functional Domains: Identification of coding and regulatory regions within genes.
6. Allelic Complementation
Definition: A method to determine whether two mutations are in the same gene (alleles) by assessing if they can restore function when
combined.
Complementation Tests: Conducted in organisms (e.g., bacteria, yeast) where mutations are introduced and analyzed for functional
restoration.
7. Split Genes
Structure: Genes that contain both coding (exons) and non-coding (introns) sequences.
Splicing: Introns are removed, and exons are joined during mRNA processing in eukaryotes, allowing for alternative splicing and diverse
protein products.
8. Overlapping Genes
Definition: Genes that share the same nucleotide sequence but may be read in different frames or directions, producing different proteins.
Significance: Common in viral genomes and can maximize coding potential in limited genomic space.
9. Pseudogenes
Definition: Non-functional sequences that resemble functional genes; often arise from gene duplication or retrotransposition.
Significance: Provide insight into evolutionary processes and the history of gene families.
10. Oncogenes
Definition: Mutated forms of proto-oncogenes that promote uncontrolled cell division, leading to cancer.
Mechanisms: Can result from point mutations, gene amplification, or chromosomal translocations.
11. Gene Families and Clusters
Gene Family: A group of related genes that have similar sequences and functions, often resulting from gene duplication.
Gene Clusters: Genes located close together on the chromosome that may be co-regulated and have related functions.
12. Regulation of Gene Activity in Prokaryotes and Eukaryotes
Prokaryotic Regulation: Often involves operons (e.g., lac operon), where genes are grouped and controlled together, responding to
environmental changes.
Eukaryotic Regulation: Involves transcription factors, enhancers, silencers, and epigenetic modifications (e.g., methylation, acetylation) that
regulate gene expression more intricately.
13. Molecular Mechanisms of Mutation, Repair, and Suppression
Types of Mutations: Include point mutations, insertions, deletions, and frameshifts, leading to changes in protein function.
Repair Mechanisms:
o Base Excision Repair: Corrects small, non-helix-distorting base lesions.
o Nucleotide Excision Repair: Removes bulky DNA adducts.
o Mismatch Repair: Corrects base-pairing errors introduced during DNA replication.
Suppression: Mechanisms that can restore function lost due to mutations, often involving secondary mutations.
14. Bacterial Plasmids
Definition: Small, circular DNA molecules that replicate independently of chromosomal DNA in bacteria.
Functions: Often carry genes for antibiotic resistance, metabolic functions, or virulence factors.
Transfer: Can be transferred between bacteria through conjugation, transformation, or transduction.
15. Insertion (IS) and Transposable (TN) Elements
Insertion Sequences (IS): Simple transposable elements that contain only the genes necessary for their transposition.
Transposable Elements (Tn): More complex sequences that can carry additional genes, including those for antibiotic resistance.
Mechanism of Transposition: Can involve a "cut-and-paste" or "copy-and-paste" mechanism, facilitating genetic diversity and evolution.
1. Nature, Structure, and Replication of the Genetic Material
Types of Genetic Material: DNA is stable and stores genetic information, while RNA is involved in protein synthesis and can also serve as
genetic material in some viruses (e.g., retroviruses).
Nucleotide Structure: Each nucleotide consists of a phosphate group, a sugar (deoxyribose in DNA, ribose in RNA), and a nitrogenous base.
Antiparallel Strands: DNA strands run in opposite directions (5' to 3' and 3' to 5'), allowing for complementary base pairing.
Semi-conservative Replication: Each new DNA molecule consists of one original strand and one newly synthesized strand, ensuring accurate
replication.
2. Organization of DNA in Chromosomes
Eukaryotic Chromosome Structure: Contains multiple origins of replication, telomeres at the ends for stability, and centromeres for proper
segregation during cell division.
Higher-order Structures: DNA is further organized into loops and domains, contributing to chromatin structure and gene regulation.
Karyotyping: A technique used to visualize chromosomes, helping to identify chromosomal abnormalities (e.g., trisomy 21 in Down
syndrome).
3. Genetic Code
Reading Frame: The way codons are grouped; shifting the reading frame can change the entire amino acid sequence downstream.
Wobble Hypothesis: The third base in a codon can vary without affecting the amino acid, allowing flexibility in tRNA recognition.
Termination Signals: Stop codons do not correspond to an amino acid but signal the end of translation.
4. Protein Biosynthesis
Initiation of Translation: Begins with the assembly of the ribosome, mRNA, and the first tRNA molecule at the start codon.
Elongation Phase: Ribosome moves along the mRNA, facilitating the addition of amino acids to the growing polypeptide chain through
peptide bond formation.
Termination Phase: When a stop codon is reached, release factors promote the disassembly of the ribosome and the release of the newly
synthesized protein.
5. Genetic Fine Structure Analysis
Single Nucleotide Polymorphisms (SNPs): Variations in a single nucleotide that can affect gene function or disease susceptibility; important
for genetic mapping.
Fine Mapping: Techniques such as linkage analysis help identify the specific location of genes associated with traits or diseases.
6. Allelic Complementation
Applications: Used to study recessive mutations; if two mutations complement each other, they are likely in different genes.
Importance in Genetics: Helps in gene mapping and understanding gene interactions in pathways.
7. Split Genes
Evolutionary Significance: The presence of introns and exons may allow for greater regulatory control and evolution of new functions.
Alternative Splicing: Can produce multiple proteins from a single gene, increasing the diversity of the proteome.
8. Overlapping Genes
Functional Implications: Can complicate gene annotation and understanding gene functions, especially in viral genomes where space is
limited.
Examples in Genomics: Common in prokaryotes and some eukaryotic genes, affecting gene expression and regulation.
9. Pseudogenes
Types:
o Processed Pseudogenes: Arise from retrotransposition of mRNA.
o Non-processed Pseudogenes: Result from gene duplication and subsequent mutations.
Evolutionary Insight: Can provide clues about the evolutionary history of gene families.
10. Oncogenes
Examples: RAS, MYC, and HER2 are well-known oncogenes that drive cancer progression.
Mechanisms of Activation: Can be activated by mutations, amplifications, or translocations, leading to gain-of-function.
11. Gene Families and Clusters
Phylogenetic Relationships: Help trace evolutionary pathways; genes in the same family often share similar functions.
Functional Redundancy: Gene families can provide redundancy, allowing organisms to survive despite mutations in individual genes.
12. Regulation of Gene Activity in Prokaryotes and Eukaryotes
Prokaryotic Regulation Mechanisms: Include feedback inhibition, where the end product of a pathway inhibits an enzyme involved in its
synthesis.
Eukaryotic Complexity: Involves chromatin remodeling, transcription factor binding, and post-transcriptional modifications.
13. Molecular Mechanisms of Mutation, Repair, and Suppression
Sources of Mutations: Include environmental factors (e.g., UV radiation, chemicals), replication errors, and spontaneous changes.
DNA Repair Pathways: Include homologous recombination for repairing double-strand breaks and nucleotide excision repair for removing
bulky DNA adducts.
14. Bacterial Plasmids
Types of Plasmids:
o Conjugative Plasmids: Carry genes for conjugation, enabling the transfer of plasmids between bacteria.
o Non-conjugative Plasmids: Cannot initiate their own transfer but can be transferred via conjugative plasmids.
Role in Biotechnology: Used as vectors in cloning and gene expression studies.
15. Insertion (IS) and Transposable (TN) Elements
Mechanisms of Action:
o Transposase: An enzyme that facilitates the movement of transposable elements within the genome.
o Class I vs. Class II: Class I (retrotransposons) replicate via an RNA intermediate, while Class II (DNA transposons) move directly as
DNA.
Impact on Genome Evolution: Contribute to genetic diversity, genomic rearrangements, and adaptation to changing environments.