BIO 30: LECTURE 1 – 3

LECTURE 1: THE SCIENCE OF HEREDITY AND 3 INTERRELATED FIELDS OF GENETICS

VARIATION
1. Transmission Genetics
Genetics - “classical genetics”
- Encompasses the basic principles of genetics:
 Branch of Biology that studies heredity and variation independent assortment and independent
 From the Greek word “gen” that means “to become or segregation (Mendel)
grow into something” (William Bateson) - “How are traits passed from 1 gen to another?”
Heredity - Explains the relationship between chromosomes
and heredity
 Transmission of traits from parents to offspring
 Their similarity 2. Molecular Genetics
- Chemical nature of the gene
Variation
- “How genetic information is replicated, encoded
 Differences between: and expressed?”
- Parents and offsprings - Central Dogma of Molecular Biology
- Among offsprings a) Replication – DNA synthesis
- Individual in the population b) Transcription – RNA synthesis
c) Translation – Protein synthesis
Genes
3. Population Genetics
 Principal determinants of life process
- Studies the genetic composition of groups of
 Carrier of traits
individuals of the same species (population)
 Segment of DNA
- Study of evolution/genetic change
 Discovered by Austrian monk Gregor Mendel
- “How the composition in the pop. changes over
 Dictates:
time?”
- Cell structure
- Cell functions
- Organization of cells into tissues/organs 8 BRANCHES OF GENETICS (mcdebbpq)
- Organisms’ appearance
- Reproduction 1. Molecular Genetics
- Adaptability - Structure and function of the genes at molecular
- Behavior and personality level
 2 important attributes of the genes: - Central Dogma
- Inherited from generation to generation (each
progeny has a physical copy of this material) 2. Cytogenetics
- Provides info about structure, function and other - Behavior of chromosomes
biological properties - *Down syndrome – due to 1 extra chromosome
derived from the mother 35 y/o above
Chromosomes
3. Developmental Genetics
 Carrier of the genes
- Gene regulation during dev’t
 A person consists of 46 chromosomes (23 from mom,
- Switching on and off of genes
23 from dad)
 A folded chromatin fiber
4. Evolutionary Genetics
 Sister chromatids when split into 2
- Genetic change within and between species
 Found in the nucleus
 Physical evidence/basis of heredity
5. Biochemical Genetics
- Studies about enzymes/proteins (products of
DNA genes)
- *albinism – cannot produce melanin
 Blueprint of the traits
 Packaged in the nucleosome 6. Behavioral genetics
- Inherited behavioral traits
- *schizophrenia, alcoholism, manic depressive,
psychosis, happiness, criminality

7. Population Genetics
- Determine the fate of the genes in the population
- Factors affecting gene frequencies
8. Quantitative Genetics
- Studies the role of genetics and environmental
factors
- Inheritance and expression of quantitative traits
(height, weight, IQ, etc.)
- Controlled by number of genes and environment
 Oswald Avery, Colin MacLeod, Maclyn McCarty
- DNA as a hereditary material
 James D. Watson & Francis H. Crick
- Elucidation of the DNA structure
- DNA double helix

BEGINNINGS OF GENETICS 4 APPLICATIONS OF GENETICS

 Before Mendel: 1. Plant, Animal and Microbial Improvement

- Heredity is a blending process - Green Revolution (Norman Borloug)
- Offspring are intermediate between the parents - Genetic Engineering/ Recombinant DNA
- Offspring is not similar to one of the parents Technology (GMOs/Genetically Modified
Organisms and products of recombinants)
 Golden Age of Greek Culture
- Attention was given to reproduction and heredity 2. Medicine
- Be able to identify diseases and abnormalities
with genetic basis
KNOWN CONTRIBUTORS - Identify metabolic disorders such as
 Aristotle phenylketonuria PKU and galactosemia
- Theory of Pangenesis - Newborn screening (human genetics)
- All structures and organs of the body contribute
copies of themselves to sex cells 3. Genetic Counseling
- Inheritance of undesirable traits
 Jean Baptiste de Lamarck - Pedigree analysis of patients
- Theory of Inheritance of Acquired Characteristics
- Acquired body modifications are inherited Eugenics

- Francis Galton
 August Weismann - The use of genetic knowledge for the
- Germ plasm theory improvement of human race
- Plans of the entire body are only contributed by
the sex cells Euphenics

- Replace eugenics
 Kolreuter, Gardner, Naudin, Darwin, Dzierson
- Use of medical and/or genetic information
- Observed uniformity in F1
- Designed to reduce impact of defective genotypes
- Observed variations in F2
- Ex.: insulin for diabetes, dietary control

BEGINNINGS OF CLASSICAL GENETICS 4. Legal Applications

- Blood type analysis
 Gregor Mendel - DNA fingerprinting for paternity test, disputed
- Father of Genetics parentage, identifying criminals
- Coined the concept of the gene
- Made 2 principles of genetics: Law of S and L of
IA
LECTURE 2: THE CHROMOSOMAL BASIS OF
- 1900 accepted the work
HEREDITY
 Carl Correns, Erick von Tschermak, Hugo de Vries Prokaryotic Cell
- Duplicated Mendel’s experiments on other plants
- The rediscoverers of Mendel’s work  Bacteria and cyanobacteria
 1-10µ linear dimension
 William Bateson, Saunders, Lucien Cuenot  No organelles
- Observed Mendel’s work in animals  No nuclear membrane
 Cell division: binary fission
 Walter Sutton & Theodor Boveri
- Chromosome Theory of Inheritance
Eukaryotic Cell
- Saw resemblance between Mendelian factors and
behavior of chromosomes during meiosis  Protists, fungi, plants, animals
 10-100µ linear dimension
 Thomas Hunt Morgan & Calvin Bridges  With organelles
- Association between specific gene and specific  With nuclear membrane
chromosome  Cell division: mitosis/meiosis

STRUCTURE OF THE CHROMOSOME
 Composed of chain of nucleosome
- Made up of DNA + nucleosome core with
Histones: H₂A, H₂B, H₃, H₄
 Then forms chromatin fiber
 Then becomes a chromosome
PARTS OF A CHROMOSOME
 P-arm
 Centromere
 Q-arm
 Sister chromatids (formed after S-phase)
 Telomere
 Satellite
 Nucleolus Organizer Region (NOR)
- Permanent cytological marker
- Ribosomal DNA is present here
4 TYPES OF CHROMOSOMES (BASED ON
CENTROMERE POSITION)
Interphase
1. G1
- Largest portion of interphase
- Enlargement of the cell (increase in volume)
- Imbibing water and nutrients
- Will produce organelles/product of the cells
2. S-phase
- DNA replication/synthesis
- A single stranded DNA/chromatid will become a
double stranded DNA/Sister chromatids
- REASON WHY IDENTICAL
3. G2
- RNA and Protein synthesis
- RNA is a machinery for protein synthesis
Mitosis
 Equational division
 Results to 2 identical haploid daughter cells
Stages of Mitosis

1. Prophase
- Chromosomes are visibly composed of sister
chromatids
2. Metaphase
- Alignment of chromosomes at the equatorial
plane
3. Anaphase
- Separation of sister chromatids towards
opposite poles
- REASON WHY IDENTICAL
 Metacentric – median
 Submetacentric – submedian
 Acrocentric – subterminal 4. Telophase
 Telocentric – terminal - Chromosomes pulled and regrouped at the
poles
- After cytokinesis, 2 haploid daughter cells were
Genome formed

 Complete set of genes/chromosomes coming from the

male or female parent
 True diploid x = n Meiosis I

 Reductional division
CELL CYCLE  To reduce the chromosome number in half

Stages of Meiosis I

1. Prophase I
a) Leptotene
- Thin thread stage of chromosomes
b) Zygotene
- Synapsis occurs: pairing of homologous (same
size, same length) chromosomes
- Formation of bivalent (II)
- *chiasmata holds the II together
c) Pachytene
- Crossing over stage of bivalence:
 The exchange of chromo segments
between sister and non-sister
chromatids
 Occurs at the chiasmata
 Creates genetic recombination/variation
 d) Diplotene Phenotype
- Separation of bivalence starting at the
centromere  Physical, physiological, biochemical, behavioral trait
- Terminalization of the chiasmata of an individual
e) Diakinesis  Brought about by the genotype
- Bivalence are evenly distributed  Determined by the genotype and interaction with the
- Best stage to establish chromosome number environment

2. Metaphase I
- Alignment of bivalence at the equatorial plane TYPES OF ALLELES
3. Anaphase I
1. Dominant
- Separation of homologous chromosomes
- Gene exerting full effect despite the presence of
(bivalence)
another allele of the same gene
- Will become univalent
2. Recessive
- Responsible for reductional division
- Gene not expressed in the presence of another
4. Telophase I
3. Homozygous
- Chromosomes regrouped at the opposite poles
- 2 copies of the same allele of a gene
- 2 haploid cells are formed
- YY (homo dominant)
- yy (homo recessive)
4. Heterozygous
Meiosis II - 2 different alleles of the same gene
 Equational division - Yy
 Will use the 2 haploid cells from Meiosis I

Stages of Meiosis II Hybridization

1. Prophase II  By Gregor Mendel
- Starts with 2 haploid daughter cells  Cross 2 individuals with contrasting traits
- Now a univalence  Purple x White (cross with) Yellow x Green

2. Metaphase II F₁
- Univalence line up at the equatorial plane
 First filial generation / hybrid
3. Anaphase II
 Offsprings of Parentals
- Separation of sister chromatids
 1st generation produced after mating between parents
4. Telophase II
that are homozygous for diff. alleles
- Regroup
- Forming 4 haploid daughter cells that are not F₂
identical
 Second filial generation
 Generation produced by self-fertilization
 Or by sib-mating of F₁ individuals
LECTURE 3: GENE SEGREGATION AND INTERACTION
Parentals

 Should be homozygous
Gene
 Should have contrasting traits
 Inherited factor of the chromosome responsible for a
Backcrossing
trait
 Cross of a heterozygote with one of its parents
Locus

 Or loci; location of a gene on a chromosome

PRE-MENDELIAN THOUGHT
Homologous pair of Chromosomes
 Heredity is a blending process
 Same genes, same type
 Heredity is a mixture of characteristics of both parents
Genotype  Heredity cannot explain if offspring is similar to one
parent
 Genetic constitution if an individual
 Represented by letters
 Each letter = 1 gene

Allele

 Alternative form of a gene

Example 3. Conditional Probability
- 2 events are not independent (not simultaneous)
Gametes: A, a

F₁: Aa x Aa 4. Binomial Probability

𝑛!
- 𝑃= 𝑝𝑤 𝑞 𝑥
𝑤!𝑥!
F₂:
In a sibship of 8 children, what is the probability of
if selfing: cross with itself (Aa x Aa)
having 5 boys and 3 girls?
if sib-mating: cross with same genotype (Aa x Aa)
8! 1 5 1 3
P (5B and 3G) = ( ) ( )
5!3! 2 2

7
Law of Segregation =
32

 Alleles in a gene pair separate cleanly form each other

during meiosis
 AA becomes A, A gametes DISCOVERIES BEFORE CHROMOSOMAL THEORY OF
 Aa becomes A, a INHERITANCE
 aa becomes a, a  Mendelian Principles
Law of Independent Assortment  Friedrich Miescher
- Isolated nuclein from nucleus (DNA)
 alleles of different gene pairs separate independently  D. Hertwig
from each other - Nucleus is required in cell div and fertilization
 randomly combine during meiosis  E. Strassburger & Walter Fleming
- Chromosomes are in the nucleus
Monohybrid Cross

 1 gene pair
CORRELATION BETWEEN CHROMOSOMES AND
Dihybrid Cross MENDELIAN FACTORS
 2 gene pairs 1. Chromosomes exist in pair and are homologous
 Consider 2 traits at the same time (same genes, same type)
Gene segregation in haploid 2. Mendelian factors exist in pair (2 alleles in a gene
pair)
 Tetrad analysis used to detect at gene transformation --
in haploid organisms 3. Homologous chromosomes separate at Anaphase I
 Gene is considered w/o crossing over (move to opposite poles)
4. MF separate at Anaphase I
--
PROBABILITIES 5. Fertilization restores diploid chromosome number
6. Alleles of a gene are in pair
1. Product Law of Probability
- Sabay 2n x 2n
- Outcome of – “and” -- Gametes: n and n
F₁: 2n
RrYy x RrYy
.. (Gametes come together to restore diploid)
Rr x Rr = 1 RR: 2Rr: 1rr or ¾ round: ¼ wrinkled
AA x aa
Yy x Yy = 1 YY: 2Yy: 1 yy or ¾ yellow : ¼ green Gametes: A and a
F₁: Aa
¾ round x ¾ yellow = 9/16

¾ round x ¼ green = 3/16

Allelic Interaction
¼ wrinkled x ¾ yellow = 3/16
- 1 gene pair controlling a trait
¼ wrinkled x ¼ green = 1/16
- AaBb (A is interacting with a)
If asked, what is the probability of round yellow?
Non-allelic Interaction
- 9/16
- 2 gene pairs controlling a trait
2. Sum Rule of Probability - AaBb (A is interacting with B)
- 2 mutually exclusive events
- Hindi sabay
- Outcome of – “or” –
 ALLELIC INTERACTION 2. Dominant Epistasis
- Dominant gene will mask the expression of the
1. Complete Dominance other gene
- AA and Aa have the same phenotype
- 1 dominant allele is enough to express dominant A)
traits - Complete dominance at both gene pairs
- F2 GR= 1:2:1 - 1 dominant gene is epistatic to the other
- F2 PR = 3:1 - F2 PR= 12:3:1
- Seed coat color, seed shape - W_ white
- ww color
2. Incomplete Dominance - Y_ yellow
- F1 phenotype is intermediate for parentals - yy green
- F2 GR = 1:2:1 - fruit color in squash
- F2 PR = 1:2:1 (red pink white)
B)
3. Overdominance - 1 dominant gene is epistatic to the 2nd
- Heterozygote F1 is superior compared to - 1 recessive gene is epistatic to the 1st
homozygous parentals - F2 PR = 13:3
- Aa > Aa or aa - I_ color inhib
- Heterosis: superiority of F1 - Ii color appearance
- F2 GR= 1:2:1 - C_ color
- F2 PR = 1:2:1 (red darkred white) - cc white
- feather color in poultry
4. Codominance
- The products of 2 alleles in the heterozygote are 3. Recessive Epistasis
present
- Homozygous recessive gene will mask the
- One is masking, one is being masked expression of the other gene
- F2 GR: 1:1 - F2 PR= 9:3:4
- F2 PR: 1:2:1 (brown roan white) - A_ agouti
- aa black
5. Lethal Genes – genes that can cause death
- C_ color expr
- cc color inhib
a. Dominant Lethal
- mouse color, coat color in Labrador
- Lethal when homozygous dominant or
heterozygous (AA or Aa)
4. Complementary Gene Action (Duplicate Recessive
- F2 GR: 1:2:1
Epistasis)
- F2 PR= 0:1
- 2 genes; either gene when recessive is epistatic
- Huntington’s disease
to the other gene
- F2 PR= 9:7
b. Recessive Lethal
- P_ purple
- Lethal when homozygous recessive
- pp white
- F2 GR= 1:2:1
- C_ color
- F2 PR = 3:0 or 1:0
- cc noncolor
- flower color in pea

NON-ALLELIC INTERACTION 5. Duplicate Gene Action (Duplicate Dominant

Epistasis)
(F2 will always start at 9:3:3:1)
- 2 genes; either gene when dominant is epistatic
9 A_B_ to the other gene
3 A_bb - F2 PR = 15:1
3 aaC_ - A_ triangular
1 aacc - Aa ovoid
- B_ triangular
1. Novel Phenotypes - Bb ovoid
- 2 genes are responsible for 1 phenotype - Seed shape in Bursa
- F2 PR: 9:3:3:1
- Comb type in rooster
Rr rose, rr nonrose, P pea, pp non pea MULTIPLE ALLELES
- More than 2 alleles at a single locus
Epistasis – an allele of a gene masks the effect of the allele
- A single individual has a maximum of 2 alleles
of the other gene
(one on each homologous chromosome)