HSC HEAD START LECTURE

BIOLOGY

Presented by:
Maddie Wainwright
TODAY’S PRESENTATION
• Introduction to HSC Biology Content Introduction to HSC Biology
Block 1
• Module 5 – Heredity Reproduction
– Reproduction Cell Division
– Cell Division Study Techniques
– DNA and Polypeptide Break
Synthesis
Content DNA and Polypeptide Synthesis
– Genetic Variation Block 2
Genetic Variation
– Inheritance Patterns in a
Population Break
• Maximising your marks Content Inheritance Patterns in a Population
– Study Techniques Block 3
Sick Bio Skillz:
– Exam Techniques Practicals and Data Interpretation
Exam Techniques

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 ABOUT ME
• Graduated 2014
• Subjects: Biology, Chemistry, English
Advanced, Extension 1 and 2, Visual
Arts, French Continuers and Extension
• Studying Bachelor Laws/Advanced
Science (Honours) at UNSW
– Major in Molecular and Cell Biology
– Currently completing (constantly crying because of)
Advanced Science Honours
• International Science Competitions –
iGEM, BIOMOD

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 (slightly) NEW SYLLABUS YIKES

MODULE 5 MODULE 6 MODULE 7 MODULE 8

HEREDITY GENETIC CHANGE INFECTIOUS DISEASE NON- INFECTIOUS
- Reproduction - Mutation - Causes of Infectious DISEASE AND
- Cell Replication - Biotechnology Disease DISORDERS
- DNA and Polypeptide - Genetic Technologies - Responses to - Homeostasis
Synthesis Pathogens - Causes and Effects
- Genetic Variation - Immunity - Epidemiology
- Inheritance Patterns - Prevention, - Prevention
in a Population Treatment and - Technologies and
Control Disorders

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 (slightly) NEW SYLLABUS YIKES

• Think about the inquiry questions

– Focus your study and conceptualisation of content
– Source of exam questions – demonstrating critical thinking?
• Modules build on each other
– Stay on top of content!
– Core ideas are continually re-visited
– Make sure you understand the foundational concepts
• More like real life science
– Better idea of what science is like at university
– More interesting
– A little more difficult, but you can handle it because you’re clever

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5.1.2 INTRODUCTION

Aims for today:

Syllabus area 1. Module 5 Overview

Module.Subtopic.Dotpoint 2. Pinpoint Essential Core Biology Concepts
3. Effective Biology Study Skills

VERY IMPORTANT
ESSENTIAL CONTENT
PLEASE LEARN ME!

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MODULE 5 – HEREDITY

1 REPRODUCTION

• How traits are passed from generation to

generation on a
2 CELL REPLICATION
– System
– Cellular, and
DNA AND POLYPEPTIDE – Molecular level
3 • How genetic information, stored as DNA, is
SYNTHESIS
expressed as external traits
• How variation occurs in populations
4 GENETIC VARIATION • How this variation may be traced within
populations

INHERITANCE PATTERNS
5
IN A POPULATION

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MODULE 5 – TOP TIPS
1. Know your basic processes
- Meiosis, mitosis, DNA replication, polypeptide synthesis, protein folding
2. Know your basic skills
- Punnett squares, pedigrees
3. Always think about the broader context of ‘genetic variation’
- How do we achieve variation at every stage of:
- Cell division
- Gene expression
4. Memorise your examples
- Methods of Replication
- Functional proteins
- Methods of inheritance
- Technologies: DNA sequencing, DNA profiling
- Inheritance Patterns + Large Scale Collaborative Projects
5. PRACTICE QUESTIONS
- There are lots available for Module 5 in past exam papers + in Topic Test
books!

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REPRODUCTION

1. How do different organisms

reproduce?
2. Fertilisation, implantation, and
hormones
3. Manipulation of reproduction for
agriculture

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5.1.1 Methods of reproduction

1 ANIMALS 2 PLANTS 3 FUNGI

- External fertilization - Asexual reproduction - Asexual reproduction
- Internal fertilization - Vegetative propagation - Budding
- apomixis - Spores
- Sexual reproduction - Fragmentation
4 BACTERIA
- Sexual reproduction
- Binary Fission 5 PROTISTS
- Asexual Reproduction
- Binary Fission
- Budding
- Sexual Reproduction

• Know the methods briefly

• More important – ability to compare processes
• Advantages and disadvantages of each
– External vs. Internal fertilisation
– Sexual vs. Asexual reproduction

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5.1.1 Methods of reproduction
Method Advantages Disadvantages

Sexual 1. Haploid gametes produced by - Combination of - Time intensive

parent organisms
2. Sperm fertilises the ovum
3. Fusion of gametes produces
zygote, containing genetic
material from both parents
different genes/traits - Energy intensive
- Variation - Mating partner
- Ability to adapt to - Fewer offspring
environment produced

Asexual Offspring arise from a single - Quick - Clones of parent =

organism, and contain the genetic - Not energy intensive lack of diversity
material of only that organism. - No requirement for - Reduced adaptive
E.g. Fission, budding, mates ability – reliant
sporogenesis, vegetative - Exponential colony solely upon
propagation growth mutation

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5.1.1
INTERNAL FERTILISATION
E.g. humans, doggos
• Fertilisation inside of the body
• Increased likelihood of
fertilisation as sperm and egg
in closer proximity
• Protected inside body, safer
under controlled conditions
• Requires mating rituals to bring
male and female into contact
• Higher risk of sexually
transmitted infections
Methods of reproduction
EXTERNAL FERTILISATION
E.g. fish, froggos
• Fertilisation outside of the body
• Must occur in wet or moist
environment
• Susceptibility to environmental
factors (e.g. weather)
• Timing of spawning important
• Larger number of gametes
produced, generally resulting in a
larger number of fertilized cells
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5.1.2 Fertilisation, implantation, and hormones

FERTILISATION: fusion of gametes to initiate the development of a new organism

IMPLANTATION: when a fertilised egg adheres to the wall of the uterus

Regulation

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5.1.2 Fertilisation, implantation, and hormones

- Signalling molecules
- Regulate physiology and
behavior
- Produced by the endocrine
system in the glands
- Transported around body
using circulatory system
and lymph system

Interact with cells to initiate bodily reactions

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5.1.2 Fertilisation, implantation, and hormones

OVULATION PREGNANCY

Important Hormones:
• LH – Lutenising Hormone
• FSH – Follicle Stimulating Hormone
• Estrogen
• Progesterone
• GnRH – Gonadotrophin-Releasing Hormone
• Human Chorionic Gonadotrophin

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5.1.3 Manipulating reproduction for agriculture

KNOWLEDGE MANIPULATION IMPACT

SELECTIVE BREEDING
- We know that phenotypic traits are heritable
- Therefore, to influence the traits of livestock offspring, we cross-breed or pure-breed
- This has led to development of new species (for example, Jersey or Angus cows)

GENETIC ENGINEERING
- We know the fundamental structure of DNA
- We’ve developed new technologies to manipulate it (e.g. transgenesis)
- This allows introduction of desired alleles with more accuracy than simply breeding
and praying to the cow gods that the things you like get passed on
- Example: GM crops such as Bt cotton, which has inbuilt pest resistance

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CELL REPLICATION

1. Processes in cell replication

– Mitosis
– Meiosis
– DNA Replication
2. Effect of these processes on species
continuity

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5.2.1 Cell replicative processes

First, some terminology…

Blue Green
eyes eyes

Homologous Chromosomes: Blue Green

Same chromosome number, eyes eyes
different alleles
Sister chromatids:
Same homologous chromosome,
different chromatid (branch? leggy?)

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5.2.1 Cell replicative processes - MITOSIS

1. Interphase • Preparation for Division

• DNA replication

2. Prophase • Chromosomes condense

• Mitotic spindle forms at poles

3. Prometaphase • Nuclear envelope breaks down

4. Metaphase • Condensed chromosomes align

along cell equator

5. Anaphase • Sister chromatids pulled to poles

of cell by mitotic spindle

simultaneous
7. Cytokinesis
• Microtubules bind to kinetochore
of chromatids • Cells separated by
• Shortening pulls pairs apart tightening ring of
proteins around
6. Telophase • Nuclear envelopes begin to reform dividing parent cell
around separated chromatids

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5.2.1 Cell replicative processes - MEIOSIS

MEIOSIS 1
• Separation of
homologous meiosis 1
chromosomes

meiosis 2
MEIOSIS 2

• Separation of sister
chromatids

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5.2.1 Cell replicative processes

MITOSIS MEIOSIS
Rounds of Division 1 2
Number of daughter cells 2 4
Chromosome number of 2n (diploid) 1n (haploid)
daughter cells
Role in body - Growth and repair - Creation of gametes
- Tissue function (reproduction)
- Development - Genetic variability

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5.2.1 Cell replicative processes – DNA Replication

Watson and Crick DNA model

• Double stranded
• Twisted into alpha helix
• Single nucleotide:
– One phosphate +
– A sugar group +
– Nitrogenous base
• Backbone:
– Deoxyribose sugar
– Phosphate
• Complementary base
pairing (hydrogen bonding):
– A binds T
– C binds G

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5.2.1 Cell replicative processes – DNA Replication

Replication

1. INITIATION
- DNA unzipped by helicase (breaks hydrogen bonds
between base pairs
2. ELONGATION
- Primers bind to the ends of the DNA strands = signal
starting point of replication
- DNA Polymerase binds at primer sites
- DNA Polymerase reads strand, and attaches
complementary free-floating nucleotides
- A – T, G – C

3. TERMINATION
- Polymerase reaches end of molecule and falls off
(disassociates)
- Strands recoil into double helix
- Two need beautiful baby identical daughter helices
- Proofreading by nuclease enzymes

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5.2.2 Cell replication and species continuity

• DNA REPLICATION:
• Produces DNA so that there is enough genetic material
for dividing cells
• Allows information for life to be passed through
generations
• MITOSIS:
• Growth, repair, and development
• Allows organisms to develop to maturity, so that they can
reproduce
• MEIOSIS:
• Produces gametes, which can be used in sexual
reproduction
• Introduces variation into the population

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STUDY
TECHNIQUES Palm Cards (thanx Naomi)

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STUDY
TECHNIQUES Posters

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STUDY
TECHNIQUES Practice Papers!

• Ask your teachers for worksheets and past

papers
• Try and explain things to other people
– E.g. explain gene expression to your parents, explain to them that everything about
you is actually their fault and you can’t be held accountable for things like laziness
because it all comes back to their dud genes

• Practice what you don’t know

• Dot point answers
• Topic Tests!
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DNA AND POLYPEPTIDE SYNTHESIS

1. How does DNA exist in eukaryotes

and prokaryotes?
2. Polypeptide synthesis
– Transcription and translation
3. Protein structure and function

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5.3.1 DNA storage in eukaryotes and prokaryotes
EUKARYOTES
- Nucleus where DNA is stored
- DNA wound around histones
- Coiled into chromosomes
- Larger genomes
- Long non-coding, repetitive
sequences
- Linear DNA
PROKARYOTES
- DNA just chillin in cytoplasm
- One big circular chromosome
- Not packaged by proteins
- Smaller, more compact
genome
- Extra-chromosomal DNA
plasmids
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5.3.2 Polypeptide Synthesis

CENTRAL DOGMA OF BIOLOGY:

DNA → RNA → polypeptide → PROTEIN

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5.3.2 Polypeptide Synthesis

TRANSCRIPTION DNA → mRNA

1. RNA Polymerase binds to

promoter region of DNA and unwinds
site where gene begins

2. RNA Polymerase links nucleotides

according to DNA complementarity,
forming mRNA strand

3. mRNA is modified so that it

contains only protein coding exons

4. mRNA moves from nucleus to

cytoplasm

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5.3.2 Polypeptide Synthesis

TRANSLATION mRNA → polypeptide

1. mRNA strand binds to a

ribosome

2. Complementary anticodon
tRNA molecules carrying amino
acids bind to mRNA codons

3. Polypeptide bonds are

formed between adjacent amino
acids until stop codon reached

4. Polypeptide chain released

into cytoplasm, and modified
into proteins

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5.3.2 Polypeptide Synthesis

TRANSLATION mRNA → polypeptide

- Codon: sequence of three nitrogenous

bases
- tRNA has an anti-codon sequence, and
carries amino acids specific to this
- The human genetic code is ‘redundant’
- We have many more codon combinations
than amino acids
- Therefore, there is some overlap
- REMEMBER THIS FOR MODULE 6 –
MUTATION
- We use codon tables to predict polypeptide
sequences

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 5.3.2 Polypeptide Synthesis

PRACTICE QUESTION
2015 Question 14:
The table shows the base triplets in mRNA for amino acids. From the table, the
amino acid Serine (Ser) can be coded for by the base triplet UCG.

Which base triplet could code for the amino acid

Tyrosine (Tyr)?
(A) CCU
(B) CAU
(C) UAA
(D) UAC

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5.3.2 Polypeptide Synthesis

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5.3.3 Protein structure and function

STRUCTURE

- Fundamental unit: amino acid

- Amino acids are bonded using polypeptide
bonds
- Amino acid side-groups have specific
chemical properties, which influence
protein folding and protein function

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5.3.3 Protein structure and function

STRUCTURE

- To achieve their final structure, polypeptides are folded into proteins

- There are four levels of folding:

PRIMARY – sequence of amino acids

SECONDARY – formation of alpha helices and beta sheets

TERTIARY – formation of overall 3D shape

QUARTERNARY – interaction of protein subunits

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5.3.3 Protein structure and function

FUNCTION TRANSPORT AND STORAGE!

- Bringing molecules into cell
- Lots of things - Chucking molecules out of cell
- Hold onto important molecules
- Proteins are v cool

STRUCTURE AND SUPPORT!

- Cell cytoskeleton ENZYMES
- Macromolecular - Biological catalysts
structures (hair, nails) - Without them we are
worse than slugs

MESSENGERS
- Hormones ANTIBODIES
- Coordination of - Immune response
biological processes - Recognise foreign
particles
- So we don’t die

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GENETIC VARIATION

1. How does meiosis induce variation in

offspring genotype?
– Crossing over, fertilisation, and mutation
2. Modelling formation of genotypes
– Understanding patterns of inheritance
– Pedigrees
– Punnett squares
3. Analysing population genetics data

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5.4.1 Meiosis and variation – CROSSING OVER

CROSSING OVER: Exchange of chromosome segments between homologous

chromosomes during meiosis.

- Chromosomes align closely

during Prophase 1/Metaphase 1
- Recombination (DNA swapping)
- Creates new combinations on
chromatids
- New allele combinations
- Genetic variation

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5.4.1 Meiosis and variation – FERTILISATION

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5.4.1 Meiosis and variation – MUTATION

MUTATION: A permanent alteration to the nucleotide sequence of an

organism’s genome

- May occur during DNA replication

and manipulation of
chromosomes during meiosis
- Mutation may change
- the sequences of genes
- The way genes are
expressed
- i.e. the genotype
- This all may lead to a change in
phenotype
- Increase in variation in the
population

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5.4.2 Modelling formation of genotypes - PATTERNS

GENE: a section of DNA encoding a particular

characteristic

ALLELE: alternative forms of a gene

HOMOZYGOUS: identical alleles in a gene pair

HETEROZYGOUS: different alleles in a gene pair

GENOTYPE: alleles present on an organism’s

chromosomes

PHENOTYPE: outward appearance of an organism

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5.4.2 Modelling formation of genotypes - PATTERNS
Where is the allele located?

AUTOSOMAL
Genes carried on
these 22 bad boys

SEX-LINKED
Genes carried on
these 2 lil babs

How do the alleles interact?

DOMINANT
Trait will always be expressed INCOMPLETE
over other traits CO–DOMINANT
DOMINANCE MULTIPLE ALLELES
Both alleles in a
An allele is not Where three or more alleles
RECESSIVE gene pair are fully
completely expressed exist for a single trait
expressed
Requires two of the same over its paired allele
allele to be inherited in order
to be expressed

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5.4.2 Modelling formation of genotypes - PEDIGREES

• Help us to trace phenotypes through generations

• Draw them properly
• Always include a key
• Label generations for ease of reference
• When solving, use Punnet squares always and forever

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5.4.2 Modelling formation of genotypes - PEDIGREES

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5.3.2 Polypeptide Synthesis

PRACTICE QUESTION
2016 Question 8:
The pedigree shows the inheritance of a characteristic. What pattern of inheritance is
shown?

(A) Autosomal dominant

(B) Recessive and sex-linked
(C) Autosomal dominant and not sex-linked
(D) Autosomal recessive

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5.4.2 Modelling formation of genotypes – PUNNETT SQUARES

• Allow us to theorise how genes may pass from parents to offspring

• Generate information about potential genotypes and phenotypes
• How does?

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5.4.2 Modelling formation of genotypes – PUNNETT SQUARES

Parental phenotypes: white eyed (homozygous) + red eyed (heterozygous)

Parental genotypes: rr and Rr

R r
Offspring genotypes:
50% heterozygous red eyed
r Rr rr 50% homozygous white eyed
1:1 ratio

Offspring phenotypes:
50% red eyed
r Rr rr 50% white eyed
1:1 ratio

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MONOHYBRID CROSS
 SEX-LINKAGE
unaffected
carrier
affected
5.4.3 Analysing population genetics data

SINGLE NUCLEOTIDE POLYMORPHISM: a change of a single nucleotide at a

specific position on the genome. This may be a substitution (e.g. changing A for
G), insertion (adding a new nucleotide), or deletion (removing a nucleotide).

• SNPs = 90% of all variation within human population

• Occur at different frequencies in different populations, regions, and
cultural groups
• Analysing SNPs allows us to generate data on population genetics

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INHERITANCE PATTERNS IN A POPULATION

1. Technologies for tracing

inheritance
– DNA sequencing
– DNA profiling
2. What can we use population
genetics data for?
– Conservation management
– Tracing inheritance of disease
– Understanding human evolution
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5.5.1 Technologies for tracing inheritance
DNA SEQUENCING: techniques used to determine the sequence of nucleotides
in a genome of segment of DNA.

METHOD:
1. Isolate DNA from cells
Sanger sequencing
2. Identification of sequential order of
nucleotides
3. Computational processing
• Comparison of whole genomes
• Transcription and translation of genes in silico
Oxford Nanopore

• Single nucleotide information

• Each individual has a different genome
• Identification of differences and
similarities
• Modern computation allows patterns to be
identified
• Trace inheritance of genes, alleles and
SNPs between people

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5.5.1 Technologies for tracing inheritance
DNA PROFILING: a technique allowing for identification of an individual’s DNA
characteristics. This is unique to each individual, like a fingerprint.
METHOD:
1. Collect DNA samples from cells (common
practice: blood, hair follicles, mouth swabs)
2. Digest DNA – cut the DNA into small pieces
using a restriction enzyme.
3. DNA fragments separated by gel
electrophoresis
4. Gel visualized to show band pattern, and
‘fingerprints’ can be compared

• Visualisation of fingerprints allows for

comparison of patterns
• Degree of similarity = degree of
relatedness
• May observe conserved regions of DNA
• Effective in humans due to large stretches
of ‘junk DNA’

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5.5.2
CONSERVATION
MANAGEMENT
• Uses population genetics to
identify alleles at risk / at a
low frequency in populations
• Proposes ways to manage
and preserve biodiversity
• Preservation of genetic
diversity
HAPLOTYPE: a group or ‘cluster’
of alleles inherited together
from a single parent
Look up:
- Human Genome Project
- International HapMap Project
Use of population genetics data
GENETIC DATA
INHERITANCE OF DISEASE
• Only a 0.8% nucleotide
variance among humans
• All genetic disease must be
contained within this
• Use of computational
genetics allows us to identify
variants leading to disease +
disorder
HUMAN EVOLUTION
• Different cultural groups are
often linked by prevalence of
certain genetic patterns
(haplotypes)
• Mapping haplotypes allows
us to trace the movement
and evolution of human
species (e.g. mtDNA)
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very important list of very important things

Mitosis
Meiosis
DNA Replication
Polypeptide synthesis / gene expression
• Transcription
• Translation These are all built upon in
further modules, so if you
Crossing Over learn them well now life will
be so much easier later!

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EXAM
PREPARATION
- Stay on top of class work
1 CONSOLIDATE YOUR NOTES WEEKLY - Continuously solidify key concepts
- Don’t miss important details

- Categorise/contextualise information
2 CREATE MODULE SUMMARIES - Memory aid
- Big-picture concepts + key details

- Application is key
3 DO PRACTICE PAPERS - Clarity takes practice
- Different ways content may be examined

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