BIOLOGY

Cell Reproduction
Pre – existing cells divide to form new cells
 Enables an organism to grow, repair damaged parts, and reproduce.
 Genetic information in the cell is stored in its deoxyribonucleic acid or DNA
 This genetic information must be faithfully replicated
The continuity of Life
 In unicellular organism, division of 1 cell reproduces the entire organism.
 Multicellular organisms, depend on cell division for: Development from a fertilized cell, growth, and
repair
 Cell division is an integral part of the cell cycle, the life of a cell from formation to its own division
Types of Cells
 Somatic Cells | (n-2n) Mitosis
 Meiotic Cells | (2n-n) Meiosis
 *P.S. Hindi yan Minus, Arrow yan*
Genetic Organization
 All the DNA in the cell contributes the cell’s Genome
 DNA molecules are packaged into chromosomes
Chromosomes, Mitosis, and Meiosis
 Each DNA molecule is packaged with protein to form a chromosome
 Mitosis: a parent cell transmits one copy of every chromosome to each its daughter cells
 Meiosis: in organisms that reproduce sexually, chromosome number is reduced in half to produce eggs
and sperm, then the original number is restored in the zygote
Histones and Nucleosomes
 In eukaryotic cells, DNA is packed in multiple chromosomes
 DNA wound around a cluster of histone molecules
 Nucleosomes are 10nm diameter| nucleosome is the basic repeating unit of eukaryotic chromatin
 Histones are a family of basic proteins that associate with DNA in the nucleus and help condense it into
chromatin, they are alkaline (basic pH) proteins, and their positive charges allow them to associate with
DNA. They are found inside the nucleus of eukaryotic cells. | Pearl-like shaped that help organize the
DNA
 Histone tails are flexible regions that flank both ends of the histone fold. In the nucleosome, the histone
fold is responsible for the formation of stable dimers, and the histone octamer is composed of two H2A–
H2B dimers and two H3–H4 dimers
Organization of genetic materials
 Specific nucleotide sequences in the DNA code for genes
 DNA + histone proteins = Nucleosomes
 Log chain of nucleosomes comprise the chromatin fiber
 Condensing of chromatin fiber during cell division forms chromosomes
Important Proteins
 Histones | are an important part of the regulation of gene expression
 Scaffolding proteins| are nonhistone protein that help maintain chromosome structure in extended
chromatin
 Condensins | are required for chromosome compaction
Chromosome number and content
 Chromosome number is unique for different species and for human: 46 chromosomes
The cell cycle and mitosis
  When cells reach a certain size, they usually either stop growing or divide
 Cell cycle: stages through which a cell passes from 1 cell to the next
 Timing varies, usually 8 to 20 hours in actively growing plant and animal cells
 Consist of 2 main phases: Interphase and M phase
The cell cycle control system
1. The cell cycle has built in checkpoints that allow problems to be corrected
2. Through the use of certain proteins, products of “checkpoints” genes
3. If the problem stays uncorrected, checkpoint genes caused the cell to self-destruct
Chromosome duplicate during Interphase
 Most of a cell’s life is spent in interphase, the time when no cell division is occurring
3 phases of Interphase
 G1 or First Gap phase or Primary Growth: Growth and normal metabolism
 S or Synthesis Phase: DNA replicates and histone proteins are synthesized
 G2 or Second Gap Phase or Secondary Growth: Protein synthesis increase in preparation for division
M Phase or Mitosis and cytokinesis
Stages of Mitosis
Prophase| Prometaphase| Metaphase| Anaphase| Telophase
Prophase
 Nuclear Envelope that organize the chromosomes are visible
 Sister chromatids of duplicates chromosomes
 Fragments of nuclear envelope
 Microtubule-organizing center
 Developing mitotic spindle
Prometaphase
 Breaks down of Nuclear envelope and chromosomes move to the center
 Mitotic spindle fibers moves to the poles
Metaphase
 All chromosomes are aligning in the center and the spindle fibers are attached to the centromere
 Kinetochore microtubules are the chromosome spindle fiber and only when attached to the
chromosomes
 Astral microtubules are the short and small spindle fibers
 Polar or Non-Kinetochore microtubules are the spindle fibers that are not connected or attached to the
centromere
 Metaphase plate or the cell’s midplane
Anaphase
 Sister chromatids separate into separate chromosomes that move toward the opposite poles because the
spindle fibers are starting to shorten
 When it reaches the end of the pole, it is the end of the Anaphase
Telophase
 Starts when its chromosomes reaches the end of the pole
 It will return to interphase-like conditions during telophase
 Cleavage furrow or Actomyosin contractile ring is splitting literally
 Cleaving is mark of the split
 Re-forming nuclear envelope and starts to relax
Cytokinesis
 The result in the division of the cytoplasm to yield 2 daughter cells
 2 cells completely separated
  Overlapping with mitosis.
Structure of duplicated chromosomes
 Consist of a pair of identical sister chromatids
 Sister chromatids are held together at the centromere by cohesins
 Attached to each other centromere is a kinetochore to which microtubule can bind
Daughter Cells of Mitosis
 Each daughter nucleus receives the same number and kinds of chromosomes of parent cell
 Mitochondria and chloroplasts contain own DNA and form by division of previously existing
mitochondria or plastids
 Organelles are apportioned with cytoplasm that each daughter cell receives during cytokinesis
Prokaryotes divide by binary fission
Regulation of the Cell Cycle
 Under optimal conditions, the length of the eukaryotic cell cycle is constant for a given cell type
 Cell-cycle checkpoints ensure all events of a particular stages have been completed before the next stage
begins
 If a gene that encodes a molecule involved in checkpoints is defective, cancer or other serious disease ca
result
Key checkpoints in the cell cycle
 G1 – S checkpoint: Ensures that the cell is ready to synthesize DNA
 G2 – M checkpoint: ensures that DNA replication is finished before the cell begins mitosis
 Metaphase – anaphase checkpoint: prevents anaphase from occurring until all kinetochores are properly
attached to spindle fibers along the cell’s midplane
Key molecules in cell cycle regulation
 Cyclin – dependent kinases (CDKs): protein kinases that activates or inactivate other proteins by
phosphorylating them| active only when they bind to cyclin to form a cyclin-CDK complex
Eukaryotic cells form 4 major cyclin – CDK complexes:
1. G1 – CDK| passage from G1 phase to the S phase
2. G1/S – CDK| preparation for DNA replication
3. S – CDK| initiates DNA replication
4. M – CDK| promotes mitosis
Other key molecules
 Anaphase – promoting complex (APC)
 Hormones
 Protein growth factors
 Certain drugs stop the cell cycle at a specific checkpoint
Two basic types of reproduction
Asexual Reproduction Sexual Reproduction
 A single parents produces two or more  Involves the union of 2 sex cells, or
individuals gametes, to form a single cell called zygote
 Genes and inherited traits are like those of  Results in genetic variation among the
the parent offspring
 Organisms that are well adapted to their  Some offspring may be more/less capable to
environment produce new generations of survive environmental changes than either
similarly adapted organisms parent
 Occurs rapidly and efficiently
Note: If each gamete had the same number of chromosomes as the parent cell that produced it, the zygote would
have twice as many chromosomes.
Homologous Chromosomes: Paired chromosomes in somatic cells| Homologous pair of duplicated
chromosomes| Human cells have 46 chromosomes in 23 homologous pairs
Diploid and haploid cells
 Diploid chromosome number: 2n or 2 sets of chromosomes
 Haploid chromosome number: n or only single set of chromosomes
 In humans, 2n=46
Maintaining Chromosome Number
 Gametes are haploid
 Egg(n) + sperm(n) = zygote(2n): The diploid number is restored in the zygote(2n)
 Zygote divides by mitosis
Polyploidy
 3 or more sets of chromosomes
 Rare among animals but common among plants: important mechanism of plant evolution
The event of meiosis are similar to the event oof mitosis, with four important differences
1. Meiosis involves 2 successive nuclear and cytoplasmic division, producing up to 4 cells
2. DNA and other chromosome components duplicate only once
3. Each of the 4 cells produced by meiosis contains haploid chromosome number
4. Resulting haploid cells each have a virtually unique combination of genes
Synaptonemal Complex
Synapsing homologous chromosomes in meiotic prophase I are held together by a synaptonemal complex,
composed mainly of protein.
Meiosis Produces Genetic Variation
2 successive divisions of meiosis yields four haploid nuclei, each with a different combination of genes: 2
sources| Crossing-over and homologous pairs separate independently
Mitosis Meiosis
 Single nuclear division  Diploid cell undergoes genetic
 Produces 2 genetically identical daughter rearrangement
cells  2 successive nuclear divisions
 Identical to each other  Resulting in 4 genetically different, haploid
 Identical to parent cell daughter cells
Animal Life Cycles: Gametes(n)| Fertilization| Zygote(2n)|Mitosis| Multicellular Diploid organism(2n)| Meiosis|
REPEAT
Life Cycle in most Fungi and many Protists: Unicellular or multicellular haploid organism(n)| Mitosis|
Gametes(n)| Fertilization| Zygote(2n) | Meiosis| Mitosis| REPEAT
Life Cycles In Plants: Gametophyte(n) (multicellular haploid organism) | Mitosis| Gametes(n)| Fertilization|
Zygote(2n) | Mitosis| Sporophyte (2n) (multicellular diploid organism) | Meiosis| Spores(n)| Mitosis| REPEAT
Property Mitosis Meiosis
DNA replication Occurs during interphase before Occurs during interphase before
mitosis begins meiosis I begins
Number of divisions One, including prophase, Two, each including prophase,
metaphase, anaphase, and metaphase, anaphase, and
telophase telophase
Synapsis of homologous Does not occur Occurs during prophase I along
chromosomes with crossing over between
nonsister chromatids, resulting
chiasmata hold pairs together due
to sister chromatid cohesion
Number of daughter cells and Two, each diploid(2n) and Four, each haploid(n), containing
genetic composition genetically identical to the parent half as many chromosomes as the
cell parent cell, genetically different
 from the parent cell and from each
other
Role in the animal body Enables multicellular adult to arise Produces gametes, reduces number
from zygote, produces cells for of chromosomes by half and
growth, repair, and in some introduces genetic variability
species, asexual reproduction among the gametes
Cancer Cells
 Genes BRCA 1 and BRCA 2 codes for proteins that act as tumor suppressors
 Viruses such as the Human Papillomavirus (HPV) cause a cell to make proteins that interfere with its
own tumor suppressors. This cause noncancerous skin growth called warts

Spermatogenesis
 Sperm
 4 unique sperm
 And carries neither x nor y
Oogenesis
 Egg cell
 1 final egg and 3 mature cells that dissolves after
 Only carries x
Syndromes caused for error in Chromosomes
1. Klinefelter Syndrome (47, XXY): A taller and less muscular than males there age| Broader hips and
longer legs| Larger Breasts| Weaker bones| A lower energy| Smaller penis and testicles| Delay in puberty
or go to parcel amount| Less facial and body hair following puberty| 23rd Chromosome
2. Turner Syndrome (45, X0): Monosomy| All or part of one x chromosome is absent| short stature,
webbed neck, rudimentary ovaries, underdeveloped breasts, broad shield like chest| 23rd Chromosome
3. Cri-Du-Chat Syndrome (46,5P-): Partial monosomy (loss of same part of the p arm of chromosome 5) |
Individual has a shrieking cry similar to that of a meowing cat| Anatomical malformations.
Gastrointestinal and cardiac malfunctions| often mentally retarded Philtrum is deep| 5 th Chromosome
4. Down Syndrome (47, 21+): Trisomy 21| Prominent epicanthic fold in the corner of the eye| Simian
crease| Characteristically short| Small, round heads protruding, furrowed tongues| Short broad hands,
physical and mental development are retarded| 21st Chromosome
5. Edward Syndrome (47, 18+): Trisomy 18| Small head| Low set malformed ears| Abnormally small jaws|
lip/cleft palate| clenched hands| Underdeveloped thumbs or nails| Very low rate of survival due to heart
and kidney abnormalities and other organ disorders| 18th Chromosome
6. Patau Syndrome(47, 13+): Trisomy 13| Cleft palate| Polydactyly| Low set of ears| Abnormal genitalia|
Overlapping of fingers over thumb| Cutis aplasia (missing portion of the skin or hair| Heart and kidney
defects| 13th Chromosome

Basic Principle of Heredity

Heredity: Transmission of genetic info from parent to offspring, follows predictable patterns
Genetics: science studying the genetic similarities and variation, differences between parents and offspring or
among individuals of a population
Gregor Mendel
 Father of Genetics
 A 19th century monk who began the scientific study of inheritance through his breeding of pea plants
(Pisum sativum)
Monohybrid Cross
 Only the purple flower factor was affecting flower color in the F1 hybrids
 The factor for white flowers was not diluted or destroyed because it reappeared in the F2 generation
 Same pattern of inheritance in 6 other pea plant characters, each represent by 2 traits called a “heritable
factor” is what we now call a GENE.
Mendel’s Principle of Inheritance
 Hybrid plants and animals are offspring of 2 genetically dissimilar parents
 All hybrid plants are offspring of genetically pure parents are similar in appearance
 When hybrids mate with each other, they do not breed true; offspring show a mixture of traits
 Mendel recognized a pattern in the way parental traits reappear in offspring oof hybrid garden peas
 Chose strains of pea plants representing seven characters for which heritable traits are known:
 Character: Seed color, Pod Shape, Stem Height, Flower Color, Seed Shape, Pod Color, Flower
Position
 Traits: Yellow seeds, Purple flowers
 Mendel’s Process:
1. Removed stamen from purple flower
2. Transferred pollen from stamens(male) of white flower to carpel(female) of purple flower
3. Pollinated carpel matured into pod
4. Planted seeds from pod
5. Examined offspring: all purple flowers
 Phenotype: The physical appearance of an organism. The set of observable characteristics of an
individual resulting from the interaction of different alleles of the same gene.
 Genotype: The genetic makeup. A true breeding line produces only offspring that express the same
phenotype generation after generation. The genetic constitution of an organism.
 Mendel began his experiments by crossing plants from 2 true breeding lines with different phenotypes
Definition of Terms
 Homologous chromosomes/pairs: 2 similar sets of chromosomes containing the same genes at the same
loci, but different allele
 Gene: Basic unit of heredity. It is a region in the DNA that encodes a specific protein/function.
 Allele: 1 of 2 or more alternative forms of a gene
 Locus (plural: Loci): Fixed position in a chromosome
Mendel’s Model of Inheritance
1. Alternative forms of a “Factor” account for variations in inherited traits
2. Inherited traits pass from parents to offspring as unmodified factors
3. Each individual has 2 sets of factors, one of each pair inherited from the mother and one from the father
4. The paired factors separate prior to the formation of reproductive cells (the principle of segregation)
5. Factors may be expressed or hidden in a given generation, but they are never lost
6. Each factor is passed to the next generation independently from all other factors (the principle of
independent assortment)
Law of segregation
 Locus: the site a gene occupies in the chromosomes
 Alleles: different forms of a particular gene which occupy corresponding loci on homologous
chromosomes
 Homozygous: 2 identical Alleles
 Heterozygous: 2 different Alleles
 During meiosis, alleles for each locus/gene segregate or separate from each other
 When haploid gametes are formed, each contains only 1 allele for each locus
 Diploidy will be retained through the fusion of 2 haploid gametes
 ANAPHASE
Law of Independent Assortment
 Genes for different traits will segregate independent from each other
Law of Dominance
Monohybrid and Dihybrid Crosses
 Monohybrid cross: a cross between homozygous parents with different alleles
 Dihybrid cross: parents differ at 2 loci
Punnett Square
  Punnett square: a grid arrangement that shows the possible combinations of alleles
 One parent’s alleles are listed across the top; the alleles of other parent are listed along the left side
 The squares are filled in with the resulting F2 combinations
Test cross
 Because some alleles are dominant and others recessive, cannot always determine an organism’s alleles
by its phenotype
 Example: Guinea pigs with genotypes BB and Bb both have black coats
 Test cross: cross an individual of unknown genotype with a recessive individual to determine the
unknown genotype
Dihybrid Cross
 2 pairs of alleles carried on non-homologous chromosomes are inherited independently
 Example: A cross between a homologous, black, sort-haired guinea pig (BBSS) and a homozygous,
brown, long haired guinea pig (bbss) produces BbSs F1 offspring
 Each F1 guinea pig produces 4 kinds of gametes with equal probability: BS, Bs, bS, and bs
 With 4 types of gametes, the Punnett square representing the F2 offspring has 16 squares
Using probability to predict mendelian inheritance
 All genetic ratios are expressed in terms of probability
 Probability is 1 if event is certain to occur
 Probability 0 if event is certain not to occur
 In monohybrid crosses, expected ration of dominant and recessive phenotypes is 3:1
 3 chances in 4 of a dominant phenotype
 1 chance in 4 of a recessive phenotype
 The product rule predicts combined probabilities of independent events
 The sum rule predicts probabilities of mutually exclusive events
Linked Genes do not assort independently
 Thomas Hunt Morgan and his students demonstrated genes are arranged in a linear order on each
chromosome: With the fruit fly: Small, short life cycle, and 4 pairs of chromosomes
 Independent assortment does not apply if 2 loci are linked close together on the same pair of
homologous chromosomes: Linked genes tend to be inherited together
 Can observe linkage with a two-point test cross
 Individual that is heterozygous at both loci crossed with an individual that is homozygous recessive for
both
 Linkage is recognized when an excess of parental-type offspring and a deficiency of recombinant-type
offspring are produced in 2-point test cross

Sex is Generally Determined by sex chromosomes

  Human have 23 pairs of chromosomes
 22 pairs of autosomes
 1 pair of sex chromosomes
 The sex of human and other mammals is determined by the sex chromosomes – XY chromosomes
 Normal female mammals have 2 X chromosomes (XX)
 Normal males have one X and one Y (XY)
Human Y and X chromosomes
 During evolution of X and Y chromosomes, almost all of the original functional genes were lost from
the Y chromosomes
 The Functions of X and Y
 The X chromosomes contains important genes unrelated to sex determination required for both sexes
 The Y chromosome determines male sex in mammals
 The SRY gene on the Y chromosome: “Genetic Switch” causing testes to develop in the fetus
 Testes secrete testosterone, which causes other male characteristics to develop
X-Linked Genes
 A female receives X-Linked genes from both parents
 A male receives all his X-Linked genes from his mother
 Always hemizygous for his X-linked alleles
 In the hemizygous condition, rare, recessive X-linked genes are expressed, making males more likely to
be affected by genetic disorders associated with the X chromosomes
Extension of Mendelian Genetics
 Because of the advancement in our knowledge of genetics, many phenotypical characteristics does not
follow the rules of inheritance created by Mendel
 Complex relationships of alleles are quite common
 One member of a pair of alleles may not be completely dominant over the other
Incomplete dominance
 The heterozygote is intermediate in phenotype
 The alleles of the gene do not dominate the other allele. When both are present, the 2 alleles will be
expressed at the same time, creating a third phenotype which is a BLEND of the two
Codominance
The heterozygote simultaneously expresses phenotypes of both homozygotes
Like incomplete dominance, the 2 allele do not dominate each other. However, instead of creating a third
phenotype, the two will be DISTINCTLY EXPRESED.
Blood type A is dominant to blood type O and blood type B is dominant to blood type O. however, blood type
A and B are codominant to each other.
A gene with more than 2 allele
Can be AB or just O
A single gene may affect multiple aspects of the phenotype
Pleiotropy
 The ability of one gene to have several effect on different characters
 Most cases of pleiotropy can be trace to a single cause, such as a defective enzyme that affects the
functioning of many types of cells

Epistasis
 An allele of one locus can mask the expression of alleles of a different locus and express their own
phenotype instead
 Or polygenic traits, are phenotypic characteristics that are influenced by 2 or more genes
Sex Influenced Traits: Types
 Sex-Influenced Traits: These are traits that are present to both sexes but are expressed differently. The
location of the gene can either be found in the sex chromosome (XY) or autosomal chromosomes.
 Sex Linked: This are traits that are linked to the X chromosome, hence, can be expressed to both male
and female. However, due to the number of X chromosomes, different probabilities can be observed
Changes in Chromosome Number
Normal chromosome number:
Haploid (n) – half of the entire chromosome set
Diploid (2n) – the entire chromosome set
Some individuals, instead of having 23 pairs, have abnormal chromosome number
Aneuploidy: (2n+) – presence of abnormal number. It results from non-disjunction of the homologous
chromosomes during meiosis.