We originate from a single cell, a zygote, that undergoes multiple rounds of cell division, growth, and differentiation to form a complete organism.
Growth involves an increase in cell number and cell size, while development encompasses the maturation and specialization of those cells.
Cell division is essential for increasing the number of cells during growth and development.
To maintain genetic integrity, DNA replication and equal distribution of duplicated DNA are crucial before cell division.
During cell division, DNA, in the form of chromosomes, is replicated to produce two identical sister chromatids.
DNA condenses into the chromosome form for organized segregation.
Sister chromatids separate and are distributed equally into two daughter cells.
Cytoplasm and organelles are also divided between the two daughter cells.
This entire process, resulting in two identical daughter cells, is called mitosis.
Mitosis increases cell number during development and tissue repair, not for reproduction (meiosis is for that).
Mitosis: Increases the number of cells in the body for growth and repair.
Meiosis: Produces gametes (sperm and eggs).
The cell cycle consists of distinct phases:
G1 phase: The cell performs its normal functions; DNA instructs cell activity.
S phase: DNA replication (synthesis) occurs.
G2 phase: The cell prepares for division after DNA duplication.
M phase: Mitosis; chromosomes are separated into two daughter cells.
Interphase: The collective term for G1, S, and G2 phases. Mitosis is a relatively short part of the cell cycle.
The cell cycle has checkpoints to ensure proper execution:
G1 phase: Normal cell function; DNA instructs cell functions.
G1 checkpoint: Verifies that the environment is suitable for growth, development, and that DNA is intact before replication.
G2 checkpoint: Ensures all DNA has been replicated accurately before mitosis.
G0: Resting phase where cells are not actively dividing.
Mitosis is triggered by Cyclins and Cyclin-dependent Kinases (Cdks).
Cyclin-dependent Kinases (Cdks): Responsible for phosphorylation events, adding phosphate groups (PO_4) to target molecules.
Cyclins bind to Cdks, activating them and allowing phosphorylation to occur.
M-Cdk: Mitotic Cyclin-dependent Kinase.
Analogy: CDK is like an electronic key that needs a battery (phosphate); Cyclin supplies this battery.
Cyclin is tagged with ubiquitin, a molecule that marks it for degradation by enzymes.
Degradation of cyclin inactivates Cdk, turning off mitotic activity.
When cyclin is not degraded, its concentration rises, increasing M-Cdk activity and promoting mitosis.
The degradation of cyclin decreases M-Cdk activity.
Mitosis is a small part of the cell cycle.
G1, S, and G2 phases constitute the larger portion of the cell cycle, collectively known as interphase.
Mitosis is divided into several phases, each with distinct characteristics:
Before mitosis:
DNA replication during S-phase.
DNA condensation and packaging into chromosomes during G2 phase.
Microtubules anchored at opposite sides of the cell.
Microtubules attached to chromosomes to facilitate movement.
Includes G1, S, and G2 phases.
DNA is in a loose state within the nucleus, not yet condensed into chromosomes.
The nuclear membrane is intact.
DNA replication occurs in the S phase.
Chromosome condensation starts at the end of G2 phase.
Chromosome condensation is completed.
Chromosomes become visible.
The nuclear membrane is still intact, and a distinct nucleus is visible.
Chromosomes begin to align in the middle of the cell.
Transitional stage between prophase and metaphase.
Chromosomes are aligned in the middle of the cell.
The nuclear membrane (envelope) has completely disappeared.
Microtubules attach to chromosomes at the centromere (center of the chromosome).
Kinetochore: Protein structure that mediates the attachment between microtubules and chromosomes.
Chromosomes separate and move toward opposite poles of the cell.
The nuclear envelope is still absent.
Chromosomes arrive at the poles.
The nuclear envelope starts to re-form around the separated chromosomes.
Cytokinesis begins, involving a contractile ring.
The contractile ring, composed of actin and myosin, constricts to divide the cell into two daughter cells.
Interphase: G1, S, and G2 phases; DNA replicated in S-phase.
Prophase: DNA condenses into chromosomes. Nuclear membrane starts to dissolve. Centrosome splits into two asters that move to opposite sides of the cell.
Metaphase: Nuclear membrane is gone. Chromosomes align in the middle. Asters are at opposite poles. Microtubules attach to chromosomes.
Anaphase: Sister chromatids split and move to opposite sides. Nuclear membrane is still absent.
Telophase: Chromosomes arrive at opposite sides and start to decondense. New nuclear membranes reform. The contractile ring begins to form.
After replication, DNA needs to be packed into chromosomes.
Condensin: A protein that coils DNA up tightly to form chromosomes.
Cohesin: A protein that holds sister chromatid pairs together.
Sister chromatids are held together by cohesin.
To start anaphase, cohesin must be cleaved to free the sister chromatids.
Centrosome: An organelle composed of bundles of microtubules, located outside the nucleus during interphase. NOT a centromere!
During prophase, the centrosome splits into two asters, which move to opposite poles of the cell.
Microtubules extend from the asters and attach to chromosomes.
Plant cells do not have centrosomes.
Kinetochore: A protein structure located at the centromere of chromosomes that serves as an attachment point for microtubules.
Microtubules attach to chromosomes via the kinetochore.
Microtubules guide chromosomes to opposite poles of the cell.
The entire microtubule-chromosome complex is called the mitotic spindle.
Chromosomes arrive at opposite poles during telophase.
Cytokinesis begins with the contractile ring "snapping" the cell in half.
The contractile ring is composed of actin and myosin.
What is a Gene?
A section of DNA that codes for a protein.
Everything in a cell is either made of proteins or made by proteins.
To perform a function, the cell needs to make the protein responsible for that function.
To make the protein, the cell needs to use the blueprint, which is the gene.
Therefore, having the gene means having the function.
Genes are located on DNA.
Humans have approximately 58,000 genes and 23 pairs of chromosomes.
Chromosomes and Genes
Each chromosome comes as a pair: one from the mother (maternal) and one from the father (paternal). These are homologous chromosomes.
Each chromosome contains many genes.
Each gene also comes as a pair, with one on the maternal chromosome and the other on the paternal chromosome; these are called alleles.
Each copy of a pair of genes is located at the same position on their chromosome, called the locus (pl. loci).
Therefore, gene and locus are often used as synonyms.
Alleles
Examples of allele combinations: AA, Aa, aa.
Gene as a DNA Sequence
A gene can be seen as a section of DNA sequence that encodes for one protein.
The process involves:
Transcription: DNA sequence is transcribed into RNA sequence in the nucleus.
Translation: RNA sequence is translated into a polypeptide (premature protein) at the ribosome in the cytoplasm.
Post-translational modification: The polypeptide undergoes modification in the Golgi apparatus and cytoplasm to become a functional protein.
Dominant vs. Recessive
Dominant: A gene sequence is intact and can express a functional protein, so the protein's function is visible.
Recessive: A gene sequence has a mutation (broken) and can only express a non-functional protein (the protein will be broken), therefore, the protein's function cannot be seen.
Gene expression is the process of using a gene blueprint to make a functional protein.
A recessive gene is not hidden behind the dominant gene; a dominant gene doesn't cover the recessive gene either. Dominant is functional, and recessive is not.
Genotype and Phenotype
A diploid organism has two homologous chromosomes, each bearing a copy (allele) of a particular gene.
As long as one copy is still functional, the phenotype will show wild-type characteristics.
Two alleles of a gene can be both dominant (AA), which is called homozygous.
They can be one dominant and one recessive (Aa), which is called heterozygous, and the phenotype is still dominant.
Or alleles can be both recessive (aa), which is called homozygous, and the phenotype is recessive.
Asexual Reproduction (Single-Celled Organisms)
Produces identical offspring.
Since all offspring individuals are identical, when the environment changes, the population can either all sustain the change or all be wiped out.
Results in low adaptation.
Sexual Reproduction
Each parent contributes half of the genetic information, and the children have traits from both parents.
Offspring from sexual reproduction have more diversities and therefore, the population is better at adapting to a changing environment.
To produce cells containing half of the genetic materials, another type of cell division is needed: meiosis.
DNA Replication
Both mitosis and meiosis require DNA replication.
Mitosis replicates DNA once and divides cells once, whereas meiosis replicates DNA once and divides cells twice.
Therefore, when meiosis produces new cells, they are haploid (have only half of the DNA/chromosomes).
Cell Type
Mitosis produces somatic cells (body cells) to increase the number of cells in the body.
Meiosis produces gametes.
Chromosome Alignment
Homologous chromosomes align at Metaphase I during meiosis, but not in mitosis.
Each pair of chromosomes consists of one chromosome from the father and one from the mother. These two chromosomes are homologous chromosomes to each other.
Chromosome Structure During Interphase
During interphase, chromosomes are replicated (and become two chromatids).
During anaphase, these two chromatids will split and go to different cells.
Chromosome Recombination/Crossover
Because homologous chromosomes align together, they can exchange their parts. This is called chromosome recombination or crossover.
Mathematical Representation
1M + 1P represents one maternal and one paternal chromosome.
Occurence
Chromosome recombination (crossover) occurs at Metaphase I.
When homologous chromosomes align together, they can exchange their parts.
No recombination during metaphase II.
Chiasma
Chiasma stabilize metaphase I.
Diversity
Due to recombination, meiosis generates more diverse products.
Functions
Number of Chromosomes
Number of Products
Types of Products
Crossing-over (Recombination)
Number of Divisions
Material Selection
Mendel's experiments utilized inheritance of seed color.
Observations
Inheritance of seed color is not passed down by blending two parental traits.
Whether using the pollens of yellow-seeded plants or green-seeded plants, the result will be the same.
The green trait was not lost, just cannot be seen when the yellow trait is present.
Basic Principles
Traits of inheritance are governed by hereditary factors (now called genes).
Such factors act like particles, independent, rather than blending.
Two variations of each trait (e.g., green and yellow), now known as dominant and recessive alleles.
Plants carry two alleles (on two chromosomes, one from mother, one from father) for each gene.
The appearance (phenotype) of plants depends on the actual genes (genotype).
If two alleles of one individual are identical, it is homozygous; if different, it is heterozygous.
In heterozygotes, not all the alleles can be shown in the phenotype; the one that can be detected is called dominant.
Law of Segregation
During gamete formation, each of the two alleles will go to two different gametes.
Then two of them (one from father, and one from mother) will unite randomly during fertilization.
Considering Two Pairs of Alleles (Two Genes)
Example: Yy Rr, where Y and y are alleles for one gene, and R and r are alleles for another gene.
Law of Independent Assortment
The segregation of each pair of alleles is independent of each other (different traits don’t affect each other).
Unlinked Genes
If two genes A and B are on different chromosomes, they are not linked.
Example: AaBb
Possible gamete combinations: AB, Ab, aB, ab.
Parental Genotype
AaBb x AaBb can produce offspring with genotypes: AABB, AABb, AaBB, AaBb, AAbb, Aabb, aaBB, aaBb, aabb.
Segregation of Chromosomes and Mendel's Discovery
Separation of chromosomes during meiosis explains Mendel’s discovery.
Polygenic Traits
Traits that are controlled by more than one gene (or called polygenic).
Pigmentation, for example, the colors of organisms are normally controlled by multiple genes.
Example
Precursor pigment is converted to Pigment B by Enzyme A (Gene A).
Pigment B is converted to Pigment C by Enzyme B (Gene B).
Pigment C is converted to Pigment D by Enzyme C (Gene C).
Pigment D produces Color 1, Pigment C produces Color 2, and Pigment B produces Color 3.
Polymorphism
A highly diversified region in the genome (all DNA in the body).
SNP Definition
SNP is one type of this highly diversified region, and it’s only one nucleotide different among individuals.