Module 5: Heredity

Reproduction
Inquiry Question: How does reproduction ensure the continuity of species?

Syllabus Dot Point

o Explain the mechanisms of reproduction that ensure the continuity of species

Cell Replication
Inquiry Question: How important is it for genetic material to be replicated exactly?

Syllabus Dot Point

o Model the processes involved in cell replication, including but not limited to:
- Mitosis and meiosis
- DNA replication using the Watson and Crick DNA model, including nucleotide composition,
pairing, and bonding

Cell Replication
o Occurs to ensure CONTINUITY of an organism
o Enables growth, development, maintenance, and repair  as well as restoring nucleus to
cytoplasm ratio
Feature Mitosis Meiosis
Genetic recombination Does not change the genetic Rearranges genetic
information information between
chromosome pairs creating
genetic variation (crossover)
Number of cells 2 genetically identical 4 genetically unique daughter
daughter cells cells
Number of Chromosomes Have the same number of Have half the number of
chromosomes as the parent chromosomes as the parent
cell (diploid, 2n) cell (haploid, n)
Location Occurs in the somatic cells Only occurs in the gonads.

Mitosis
o Division of nucleus into 2 GENETICALLY IDENTICAL daughter nuclei
o Occurs in SOMATIC cells
Interphase
o Period of cell GROWTH and normal activity
o DNA of cell is DUPLICATED  creating TWO copies of each CHROMOSOME
Prophase
o First and longest stage
o Chromosomes become VISIBLE and centrioles separate and
move to opposite poles of cell

Metaphase
o Second stage
o Chromosomes line up across CENTRE of cell and become
connected to spindle fibre at their centromere

Anaphase
o Spindle fibres CONTRACT
o Sister chromatids are pulled apart and separated into
INDIVIDUAL chromosomes

Telophase
o Chromosomes gather at opposite end of cell and lose shape
o TWO new nuclear membranes form around each set of
chromosomes and spindle fibres DISAPPEAR

Cytokinesis
o Cell membrane pinches and divides cytoplasm in HALF
o In result, TWO identical daughter cells  contains copy of
original DNA and ALL organelles

Meiosis
Location: Germline (sex) cells
Result: Diploid cell creates 4 haploid daughter cells
o Meiosis I: Reduction division  creates haploid cells from diploid cells
o Meiosis II: Maintains haploid number in daughter cells
Function
Gamete production for sexual reproduction
↓
Ensures INHERITANCE of genome
↓
Source of VARIATION
↓
CONTINUITY of species

Interphase I
o DNA replication occurs
o Chromosomes CANNOT be seen individually  called chromatin
material

Prophase I
o Chromosomes are arranged in HOMOLOGOUS pairs
o Chromosomes with 2 chromatids appear
o Nuclear membrane dissolves
o Centrioles move towards poles
o Crossing Over
- Non-sister chromatids cross over and EXCHANGE maternal and
paternal genes across chiasma
- Creates unique combinations of ALLELE PAIRS on same
chromosomes
- Maternal and paternal genes  VARIATION
o Alleles: Variations of SAME gene.
- Alleles for a common trait are found on same locus of a chromosome
- If segment does NOT cross over in exact area  MUTATION
Metaphase I
o Independent Assortment
- Homologous pairs of chromosomes line up in DOUBLE file along the
cell’s EQUATOR
- Arrangement is RANDOM and independent of other chromosomes
o Random Segregation
- Chromosomes of homologous pairs move to POLES independently of
each other
o Create a unique combination of alleles in gametes
o Crossing over, independent assortment and random segregation are
source of genetic variation

Anaphase I
o Spindle fibres CONTRACT and PULL chromosomes to OPPOSITE
poles

Telophase I
o Nuclear DIVISION completes
o 2 haploid, non-identical nuclei FORMED

Cytokinesis I
o Cytoplasmic division completes
o 2 haploid, non-identical cells FORMED
o MEIOSIS I COMPLETED

Metaphase II
o Chromosomes lin in a single file along EQUATOR of cell
Anaphase II
o Spindle fibres CONTRACT, pulling chromosomes to
OPPOSITE poles

Telophase II
o Nuclear division COMPLETE
o 2 haploid non-identical nuclei are formed per daughter cell

Cytokinesis II
o Cytoplasmic division COMPLETE
o 2 haploid, non-identical gametes are formed per daughter cell
o In total → 4 haploid, non-identical gametes are FORMED

Syllabus Dot Point

- DNA replication using the Watson and Crick DNA model, including nucleotide composition,
pairing, and bonding

Watson and Crick DNA

Model
o Model of DNA built 1953
o Double helix structure

Nucleotide Composition,
Pairing & Bonding
 o DNA and chromosomes have a 1:1 ration since a
chromosome is a molecule of DNA wrapped around
HISTONE PROTEINS
o Many genes → 1 DNA → 1 Chromosome
DNA is a 3D molecule made of a SEQUENCE OF
NUCLEOTIDES, unwrapped looks like this:
o Nitrogenous BASE + Phosphate + Sugar
= NUCLEOTIDE
Nitrogenous Bases
1. Adenine (A) Purines
2. Guanine (G)

3. Thymine (T)
Pyrimidines
4. Cytosine (C)

They undergo complementary BASE pairings:

A T → (2 Hydrogen Bonds)
G C → (3 Hydrogen Bonds)
Gene Expression
o Process by which the GENOTYPE shows the PHENOTYPE is called gene expression → happens
through PROTEIN SYNTHESIS

GENE (DNA segment)

↓
Sequence of NUCLEOTIDES
↓
Sequence of CODONS
↓
Sequence of AMINO ACIDS
↓
Polypeptide Chain
↓
Specific PROTEIN
↓
Specific TRAIT

This is how each GENE determines a TRAIT

Many GENES → Many PROTEINS → Many TRAITS
Syllabus Dot Point
o Assess the effect of the cell replication processes on the continuity of species

DNA Replication in Eukaryotes

o DNA replication occurs in synthesis stage of INTERPHASE

DNA Replication: IMPORTANCE

The Original Strand

o 1 molecule of DNA has 2 complementary strands which go from 3’→ 5’ or 5’→ 3’
→ 3’ ends with SUGAR
→ 5’ ends with PHOSPHATE

The strands are ANTIPARALLEL

o The LEADING strand forms 5’→ 3’ continuously TOWARDS replication fork
o The LAGGING strand forms in FRAGMENTS from 5’→ 3’ AWAY from replication fork

The Process of DNA Replication

Initiation
 o Ligase → Relieves strain on TWISTED DNA helix
↓
o Helicase → UNCOILS and SEPARATES complementary strands
↓
ELONGATION
↙ ↘
Leading Strand Lagging Strand

o DNA Polymerase (III) adds nucleotides o RNA Polymerase adds an RNA primer to
segments (primers) in the 5’→ 3’ strand allowing DNA polymerase to
TOWARDS replication fork BIND
↓ ↓
o DNA polymerase also PROOFREADS DNA polymerase (III) adds to
nucleotides next to RNA primer in
strand to correct ANY base pair
ERRORS ↓ Okazaki fragments
↓
↓ Starts to RECOIL into double-helixDNA
shape.
polymerase (I) replaces RNA
2 IDENTICAL daughter strands produced
o Ligase seals GAPS between DNA primer with DNA and CORRECTS any
↓ pairing ERRORS
TERMINATION ↓
↓ Ligase seals GAPS between DNA
The 2 new DNA strands each contain 1 OLD ↓
template strand and 1 NEW strand → RNA thisprimer
is moves to next area and
cycle REPEATS until lagging strand is
called semi-conservative replication
formed

DNA & Polypeptide Synthesis

Inquiry Question: Why is polypeptide synthesis important?

Syllabus Dot Point

o Construct appropriate representations to model and compare the forms in which DNA exists in
eukaryotes and prokaryotes

DNA in Prokaryotes vs Eukaryotes

 Prokaryotes Eukaryotes
DNA Shape o Chromosomal DNA in tight o Double helix coiled around
supercoils around scaffold protein HISTONE proteins
→ For essential features → DNA wrapped around
o Loop-like plasmid DNA histones to make nucleosomes
→ For NON-essential features

Conservative Replication Semi-conservative Replication

DNA Location Cytoplasm (naked) Nucleus (Membrane-bound)

Non-Nuclear DNA
o Some organelles (Mitochondria, chloroplast) have their OWN DNA
o Mitochondrial DNA (mtDNA) is IDENTICAL through female lineage and used to trace
GENETIC LINE
→ Evolves more RAPIDLY as replication is not checked by repair enzymes
→ ABUNDANT in every cell

DNA vs RNA
RNA DNA
Ribonucleic acid Deoxyribonucleic acid
o Single helix o Double helix
o Ribose sugar o Deoxyribose sugar
o 4 bases o 4 bases
- Adenine - Adenine
- Uracil → Instead of Thymine - Thymine
- Guanine - Guanine
- Cytosine - Cytosine
o Coverts information stored in DNA to o Stores GENETIC material
PROTEINS o Undergoes replication
o Does NOT replicate
o mRNA
- Takes coding sequence for specific
proteins from DNA and transports to
RIBOSOMES
o tRNA
- Carries amino acids to ribosome
- Specific types of AA correspond to
anticodon
 o rRNA
- Form ribosome
- Move along mRNA and bind the tRNA

Syllabus Dot Point

o Model the process of polypeptide synthesis, including:
- Transcription and translation

Polypeptide
Polypeptide: Chains consisting of AMINO ACIDS held together by PEPTIDE BONDS and fold in 3D
conformations to form PROTEINS.
o Sequence and arrangement of AA determines configuration of PROTEIN. Therefore, change in
sequence may change SHAPE of protein and HINDER its ability to carry out FUNCTION

Polypeptide Synthesis
Transcription: A section of DNA is transcribed by mRNA
1. → RNA polymerase enzyme binds to part of DNA ‘sense/non-coding’ strand (promoter)
→ DNA helix UNWINDS and UNZIPS
→ The sense strand acts as a TEMPLATE for RNA nucleotides to attach to its complementary
base pair on the DNA strand (A binds with U for RNA)
DNA Processing – Eukaryotic Cells
o mRNA transcribed from DNA is called pre-mRNA as it requires further editing before acting as a
TEMPLATE for TRANSLATION
o Pre-mRNA contains coding sequences of nucleotides (EXONS) with sequences of NON-
CODING nucleotides (INTRONS)
o Introns code for their own REMOVAL → forming mature mRNA
o Splicing and rearrangement of block of mRNA
- Important for GENE REGULATION in complex organisms → gives rise to different version of
SAME PROTEINS
 2. → mRNA molecule exits NUCLEUS via nuclear pores and enters CYTOPLASM → attaches to
RIBOSOMES

Translation: mRNA binds with tRNA on ribosome to synthesise a POLYPEPTIDE CHAIN.

1. → Ribosomes move ALONG mRNA strand
→ tRNA molecules bind with AA in CYTOPLASM and attaches to mRNA by temporarily
pairing the bases of tRNA anticodon to its complementary codon on mRNA
→ ‘Start’ codon initiates synthesis of POLYPEPTIDE
2. → Chain of AA form – held by ENZYME
3. → After AA on tRNA molecule binds with polypeptide chain, tRNA moves AWAY from mRNA
and back into cytoplasm to attach to ANOTHER amino acid
4. → Polypeptide chain processes in cell where it folds protein in 3D config
5. Once ‘stop’ codon is reached (UAA, UAG, UGA), mRNA breaks down into individual
nucleotides (can be reused)
Syllabus Dot Point
- Assessing the importance of mRNA and tRNA in transcription and translation

mRNA (Messenger) tRNA (Transfer) rRNA (Ribosomal)

o Single stranded, shorter than o Each molecule is 75 nucleotides o Made in nucleolus and
DNA long and twisted in shape of act as enzymes that
o Carries info from DNA to cloverleaf AID in protein
ribosomes o At one end: three unpaired synthesis and form
o Formed from DNA anticodons which attach to structural component
complementary codons on mRNA of ribosome
o Other end holds site of attachment
for AA
Importance Importance
o mRNA allows for genetic o tRNA attaches to mRNA to give
code in DNA to be translated rise to sequence of AA that
into PROTEINS synthesis into PROTEIN
o DNA is held in nucleus of o Important for attachment of AA to
eukaryotic cell and too form polypeptide chain
LARGE to penetrate o Maintains sequential synthesis of
membrane protein after it detaches from
o mRNA can pass through and mRNA to bind with another AA,
thus translate genetic that will contribute to making a
instructions to protein protein
Role Role
o Carries genetic info in DNA o Transports AA to ribosomes
to RIBOSOMES in o Anticodon binds to complement
cytoplasm codon

Syllabus Dot Point

- Analysing the function and importance of polypeptide synthesis

Function
o To produce POLYPEPTIDE and then a PROTEIN

Importance
o DNA unzipping in essential
o A section of DNA containing gene required for synthesis of specific protein UNWINDS and
UNZIPS → RNA nucleotides attach to ‘sense’ strand and form mRNA molecule (carries genetic
info from DNA)
- This section provides code for production of protein
o Proteins are essential biological molecules that CELLS and TISSUES require for specific function
o Vital that genetic info translated via RNA contains FULL and ACCURATE instructions
- If errors occur → hinders SURVIVAL of organism, especially if protein not made
 o Gene expression regulated by proteins → proteins must undergo ACCURATE synthesis via DNA
instructions to produce PHENOTYPE for organism

Syllabus Dot Point

- Assessing how genes and environment affect phenotypic expression
Genotype: ALL alleles present on chromosome for TRAIT.
Phenotype: Physical expression of organism based on its DOMINANT genotype
o Some variations genetically determine or influenced by environment
o Genes that ARE expressed dictate TYPES of proteins in cells and overall phenotype of organism

Genes Environment
o Dependent on ACCURATE synthesis of o Environment does NOT chemically modify
protein → coded for by specific sections of genome (sequence of bases), but influences
genes on DNA phenotype via chemical MARKERS or TAGS
added to DNA
o Temp can cause organisms to express
phenotype of MUTANT alleles through colour
of fur etc.
o Hydrangeas → pH of soil influence phenotype
and causes change of flower colour

Regulation of Genes
Modifying DNA for Transcription
o Methylation REPRESSES gene expression
o Increases DENSITY of binding between DNA and histones → restricts ACCESS by RNA
polymerase
Post-transcription (modifying & processing RNA)
o Splicing (removal of introns) and regulation of length of time for which mRNA remains ACTIVE
and STABLE
o MOST COMMON REGULATION IN EUKARYOTES

Post-translation Regulation
o Activation of protein by ADDING or REMOVING a chemical group

Syllabus Dot Point

o investigate the structure and function of proteins in living things

Chemical Structure
o Contains: carbon, hydrogen, oxygen, and nitrogen
o Proteins composed of chains of AA bonded by PEPTIDE BONDS
o Folds into shape → crucial for FUNCTION
o Protein: Single chain of 40-50+ AA folded in specific manner
o Polypeptide: Chain shorter than 40-50 AA and combines with other chains to fold into functional
protein

Physical Structure
Primary
o Polymers containing AA sequence arranged in LINEAR chains (polypeptide)
o Structure determines the secondary and tertiary structures and any INCORRECT AA that may
hinder SHAPE of protein and its FUNCTION
Secondary
o 3D arrangement of polypeptides by twisting + HYDROGEN bonds
o Can fold in ALPHA HELICES or PLEATED SHEETS
o Fibrous proteins have secondary physical structure
Tertiary
o Further folding into complex 3D conformations caused by interactions b/w polypeptide and
environment
o Typical of globular proteins
Quaternary
o Proteins made of MORE THAN ONE polypeptide chain

Types of Protein Groups

TYPE FUNCTION
Fibrous o Forms of structural component of CELLS & TISSUES
o Long and INSOLUBLE in water
o E.g. keratin, collagen, elastin
Globular o More complex proteins with tertiary structure
o SPHERICAL in shape
o Compact and SOLUBLE
o E.g. transport protein, enzymes, immunoglobin, hormones
Structural o Promotes structural SUPPORT and MOVEMENT of cells
o E.g. collagen, keratin, actin
Enzymes o Act as CATALYSTS in cellular reactions
o E.g. lipase, amylase
Cell o Proteins embedded in membranes REGULATE movement of IONS and
communication, molecules b/w INTERNAL & EXTERNAL environments
signalling and o Transport and store proteins
biological o Hormones and neurotransmitters act as CHEMICAL messengers b/w cells
recognition → biological recognition b/w chemical messenger and their TARGET cell is
essential
o Receptor proteins are responsible for receiving these messages and MUST
have a shape that is RECIPROCAL to molecule with which it binds
Sensory o Responds to STIMULI (changes in environment) by changing shape or
biochemical activity

Genetic Variation
Inquiry Question: How can the genetic similarities and differences within and between species be
compared?

Syllabus Dot Point

o conduct practical investigations to predict variations in the genotype of offspring by modelling
meiosis, including the crossing over of homologous chromosomes, fertilisation and mutations
Genetic Variation
o Genetic similarities and differences can be compared at a GENETIC level WITHIN species at
BETWEEN species
Within a population (INTRAspecific)
o Similarities show COMMON ancestry
o Differences show genetic DIVERSITY due to genetic VARIATION
Between populations (INTERspecific)
o Similarities show EVOLUTIONARY relationships
o Differences show species DIVERSITY due to species VARIATION

Sources of Variations
Genome: The COMPLETE set of GENES in a species.
Gene Pool: The COMPLETE set of all ALLELES in a species.
Genetic Diversity: TOTAL of all genetic CHARACTERISTICS in genetic makeup of species.

SOURCE EFFECT
Crossing Over (Prophase) o Homologous chromosomes EXCHANGE genes, creating
NEW combinations of ALLELES in chromosome
Independent Assortment o Homologous chromosomes arrange themselves and separate
(Metaphase I) independently → random allele combos in the 4 non-identical
& gametes
Random Segregation
(Anaphase I)
Random Fertilisation o Non-identical male and female gametes FUSE to create an
OFFSPRING with unique combo of alleles to form UNIQUE
GENOTYPES
Mutations o Produce new alleles to INCREASE the possible variations
Meiosis + Fertilisation + Mutations → RECOMBINATION of GENES

Mechanisms of Inheritance
Chromosomes
o Autosome: Contains genes responsible for BODY TRAITS (skin, hair, eye colour)
o Sex-chromosomes: Contains genes for GENDER and secondary sexual characteristics
o Every body cell contains a complete set of HOMOLOGOUS chromosome pairs

Mutations
o Occur in SOMATIC and GERMLINE cells
o Somatic Cells: Expression in individual → NO INHERITANCE
o Germline Cells: NOT expressed in individual → gametes → inheritance → expressed in
OFFSPRING
o Gametes carry genetic variation → trait only passed down if it occurs in GAMETES
- Inheritance only occurs in GERMLINE cells

Syllabus Dot Point

o model the formation of new combinations of genotypes produced during meiosis, including but
not limited to:
- interpreting examples of autosomal, sex-linkage, co-dominance, incomplete dominance and
multiple alleles

Autosomal Inheritance
o Inheritance in germline cells where genes inherited are on 1st – 22nd pairs of chromosomes and
code for BODY characteristics
In a specimen, there is a GENE for EACH trait & 2 variations of gene is called ALLELE
o Alleles can be DOMINANT or RECESSIVE
o Dominant alleles are ALWAYS shown OVER recessive alleles
o E.g. GT is gene for height. T and t are alleles and T is dominant, t is recessive
P1: Parental Generation
o The alleles of BOTH parents
o Pure Tall x Pure Short
- TT x tt

G1: Gametes
o Since only HALF of each parent’s genetic info is passed onto offspring → allele from EACH
parent

Simple Dominance: ONE allele is completely DOMINANT over the other

Co-dominance: BOTH alleles are dominant → BOTH show WITHOU BLENDING
Incomplete Dominance: BOTH alleles are dominant → BLENDED in phenotype

Multiple Alleles
 o While there are only 2 alleles PER genotype → Some traits coded for MORE THAN 2 ALLELES
o If MANY variants → CONTINUOUS DISTRIBUTION
o If FEW variants → DISCRETE DISTRIBUTION

Example: Blood Groups

There are 3 alleles that code for blood types: A, B & O
o O is recessive
o A & B are both DOMINANT over O (but equally dominant over each other)
Therefore, there are FOUR blood groups for genotypes created:
o
IA → A
o
IB → A
o
I →O

Sex-Linkage
o Inheritance on germline cells where genes inherited are on 23rd pair of chromosomes
o These genes code for GENDER and secondary SEXUAL characteristics
o Due to mutation → autosomal gene transferred to X chromosome of 23rd (sex) pair
↓
It becomes X-Linked GENE
↓
It undergoes sex-linked inheritance

If allele for a sex-linked disease is RECESSIVE (e):

XE = DOMINANT f. allele Xe = RECESSIVE f. allele Y = m. allele
(MOST dominant) (MOST recessive)

Syllabus Dot Point

- constructing and interpreting information and data from pedigrees and Punnett squares

Pedigrees
o Graphical representations of inheritance patterns of a TRAIT in related individuals over
generations

Patterns of Inheritance