Unit 4 -Heredity & Continuity of Life

Topic 1 – DNA, Genes, And The Continuity Of Life

DNA Structure and Replication
Nucleic Acids
There are two types of Nucleic Acids

1. DNA 2. RNA

Deoxyribonucleic Acids (DNA) is a double-stranded molecule that occurs bound to proteins

(Histones) in chromosomes and in the nucleus, and as unbound circular DNA in the cytosol of
prokaryotes of eukaryotic cells

Structure of DNA
Nucleotide composition –
Nucleotides – All nucleic acids are made up of nucleotides. In DNA, each nucleotide is made up of
three parts: a pentose sugar, a phosphate group, and a nitrogenous base.

DNA Structure –
1. Phosphate Groups –

Phosphate Group/
Phosphate backbone is the
double helix for DNA, RNA
has a single stranded
phosphate backbone.

Phosphate groups in DNA

are attached to the 5′- and
3′-carbon atoms of each
sugar to form the
backbone chain of DNA.

2. Nitrogenous (Complementary) Bases –

Bases = A, T/U, C, G Difference between DNA & RNA
 A join to T (U if RNA) DNA RNA
 G joins to C
1. Phosphate Group Double stranded Single stranded
3. Pentose Sugar –
- Deoxyribose [DNA] 2. Base Thymine (T) base Uracil (U) base
- Ribose [RNA]
3. Pentose Sugar Deoxyribose sugar Ribose sugar
Chemical Structure of DNA –
 DNA occurs bound to proteins (histones) in chromosomes in the
nucleus, as unbound circular DNA in the cytosol of prokaryotes and in
the mitochondria and chloroplasts of eukaryotic cells.
- Nucleosome – A length of DNA coiled around a core of eight
histones
- Epigenetic Factors – A chemical tag that determines the degree
of coiling of the DNA around the nucleosome and thus gene
expression
- A tightly coiled DNA–histone complex forms a chromosome

DNA in Eukaryotes and Prokaryotes –

Eukaryotes Prokaryotes

Bound to proteins (histones) in chromosomes in Unbound circular DNA in the cytosol (genophore)
the nucleus Small rings of DNA: plasmids may also be present
DNA + all proteins associated with it (mainly
histones) = chromatin

Found in mitochondria and chloroplasts Found in cytosol

DNA Replication
DNA replication is the process by which DNA makes a copy of itself during cell division. 

Stages of DNA Replication –

1. Replication fork formation (unzip) – DNA replication begins with the separation of the
double-stranded DNA via the enzyme helicase at a replication origin.
a. Helicase functions by breaking the hydrogen bonds between the complementary
nitrogen spaces forming a point of opening known as a replication fork
2. Primer binding– To synthesise new complementary strands, the enzyme DNA polymerase to
add complementary DNA bases to the existing DNA strands.
a. DNA polymerase can only add nucleotides, so Primers are added to the existing
strands to allow the DNA polymerase to attach to DNA and begin its elongation of
new strands
 3. Elongation (Replicate Strand) – DNA is anti-parallel, meaning that one original strand runs in
a 3’ to 5’ direction while the other runs in a 5’ to 3’ direction. This becomes important since
DNA polymerase can only add new DNA nucleotides in the 5’ to 3’ direction.
a. Leading Strand – Can be replicated continuously since the DNA polymerase enzyme
can freely add bases in the direction from the primer (5’ to 3’ direction)
b. Lagging Strand – The DNA polymerase needs to act backwards in the opposite
direction of the helicase movement therefore DNA from the lagging strand is
replicated slower (3’ to 5’ direction)
4. Termination – When the DNA polymerase is finished the RNA primers are removed and
replaced with DNA. the enzyme DNA ligase joins DNA fragments in each strand together and
forms 2 identical DNA strands

Role of the DNA helicase and polymerase in DNA Replication –

DNA Helicase – An enzyme that breaks down hydrogen bonds holding the two strands together
 Unwind DNA (helicase) –
1. Breaks the hydrogen bonds between the bases
2. Unwinds part of the DNA helix, allowing the separation of the strands
DNA Polymerase – An enzyme that is responsible for assembling nucleotides to form new copies of
DNA
 Build daughter DNA strand (DNA polymerase) –
1. Add new complementary bases
2. The enzyme moves 3' to 5' and can only add nucleotides to the 3' end of a growing DNA
strand; the strand goes from 5’ to 3’

Cellular replication and variation.

Meiosis – Cell division process that produces sex cells(gametes) for the purposes of sexual division
goes from a diploid cell—one with two sets of chromosomes—to haploid cells—ones with a single
set of chromosomes.

Mitosis – where a parent somatic cell Divides into two genetically identical diploid daughter cells.

Meiosis
Homologous chromosomes – A pair of chromosomes with the same gene sequence, One set comes
from your mum and the other from your dad. homologous pairs in humans have 23 pairs of
homologous chromosomes (i.e., 46 chromosomes). Results in variation

Haploid (n) – The number of chromosomes in a set is the haploid number (n), since chromosomes
are found in matching pairs (homologous chromosomes) n = 23 (pairs) in humans

Diploid (2n) – Having two full sets of chromosomes is known as the diploid number (2n = 46).

 Haploid (n = 23), diploid (n = 46)

o Haploid is half of diploid

Genetic Diversity from Meiosis –

The diversity in meiosis is a result of 2 fundamental processes that occurs in meiosis: Recombination
and independent assortment

Recombination – The process in which homologous chromosomes (maternal and paternal pair)
‘cross over’.
- As a result of ‘crossing over’ maternal and paternal genes are exchanged. This creates gametes
entirely different genomes, thus contributing to genetic diversity
- Occurs in Prophase I

Independent Assortment – The process in which maternal and paternal homologous chromosomes
align independently of one another. In doing so, different gametes will have different arrangements
of maternal and parental chromosomes.
- Occurs in Metaphase II

Spermatogenesis and oogenesis –

Spermatogenesis Oogenesis
Summary 1. Germ cell 1. Germ cell
2. Spermatogonia 2. Oogonia
3. Primary spermatocyte 3. Primary oocyte + polar body
4. Secondary spermatocyte Secondary oocyte + polar body
5. Spermatid 4. Ootid
6. Spermatozoa 5. Ovum

Similarity Both involve the formation of haploid cells by meiosis.

Produces - 4 spermatocytes - 1 oocyte + 3 polar bodies
- Spermatocyte generates - Oocytes generated before birth
continuously - Stops at menopause
- Whole lifespan - Large immotile oocyte
- Small, motile spermatocytes

Gene expression
Definitions –
 Gene – Region/s of DNA that are made up of nucleotides, the molecular unit of heredity
 Genome – All the genetic material in the chromosomes of an organism, including its genes and
DNA sequences
 Gene Expression – The ability for gene to be transcribed

Coding and non-coding DNA –

 Exons (coding regions of DNA) – Regions in our genes which go on to create proteins whereas
 Introns (noncoding regions of DNA) – noncoding regions (which include centromeres,
telomeres, introns and another important regulatory sequences) are not directly involved in
protein synthesis.
- Example – Telomeres are noncoding regions since they do not express proteins however,
they are extremely important in maintaining the stability of a chromosome and thus would
not be able to replicate without them
 Instructions to make certain types of functional RNA (i.e. tRNA, rRNA, regulatory RNAs,
microRNAS).
 Centromeres – where sister chromatids are attached.
 Telomeres – caps on the end of DNA that prolong the life of chromosomes
Protein Synthesis

Transcription and translation are the process is used to turn genetic information into structural and
functional molecules used in cells such as proteins in all life

 The sequence of nucleotide bases on a gene provides a code that is an instruction for a protein
that is built through transcription and translation.

Transcription –
 Transcription – Transcription is the mechanism by which the base sequence of a gene on a DNA
strand is converted into the complementary base sequence of mRNA”: first stage of protein
synthesis. The process of transferring the code from DNA to mRNA. Transcription occurs in the
nucleus.
 mRNA – Messenger RNA; RNA that is formed during transcription

Process of Transcription –
- Occurs in the nucleus
 Helicase unzips DNA
 mRNA makes a copy of the DNA code for the protein
Post Transcriptional Modification
- Noncoding DNA is removed before entering the nucleus
 Splicing – noncoding introns are removed by the enzymes in the nucleus then remaining coding
exons are re-joined to form mature mRNA
 Trimming – Removal of non-coding sections at the beginning and end of mRNA

Translation –
Translation – The production of a polypeptide sequence from a sequence of mRNA Codons.
Translation occurs in the cytoplasm. Translation allows assembly of amino acids into polypeptides
according to the original DNA code”: second stage of protein synthesis.’

Process of Translation –
- Occurs in the cytoplasm
 mRNA is read by the ribosomes
 Complementary tRNA attaches to mRNA
 tRNA carries the amino acid and deposits it

Mutations
Mutation – A mutation is a small permanent change in an organism’s DNA, can be a change in the
amount of or arrangement of genetic material.

Mutations - Overview
1. Point Mutation – A change in a single nucleotide in the DNA code that may result in translation
of one different amino acid in a polypeptide sequence
2. Somatic Mutation – A mutation in the somatic tissue of an organism that affects the specific cell
type but is not inherited
3. Germ Line Mutation – A heritable change in the DNA that occurs in a germ cell (a cell destined to
become an egg or sperm) or the zygote at the single-cell stage and so is incorporated in every
cell of the body
4. Frameshift Mutation – The deletion or insertion of a single or non-multiple of three nucleotides
into the DNA
5. Homologs – Two chromosomes that are homologous; during meiosis, the set of pairing maternal
and paternal chromosomes; have the same genes at the same loci but may have different alleles

Errors in Gene Replication

Point Mutation –
Point Mutations may arise when the DNA polymerase accidently adds a different base from the
intended base, however the actual frame of the DNA sequence is not altered
Point Mutations (Mismatch in DNA) can result in 3 different outcomes –
 Silent Mutation – No change in the amino acid sequence of the corresponding protein (No effect)
 Missense Mutations – There will be a change in the amino acid sequence in the corresponding
protein
 Nonsense Mutations – A STOP codon is created that will prematurely terminate the sequence or
will ultimately shorten

Frameshift Mutations
Frameshift Mutations – An additional nucleotide is added or removed unnecessarily, or a nucleotide
might be added (Indels). Both processes lead to the disruption of all future triplets, placing them ‘out
of frame’.

 Insertion – Adds an additional nucleotide; Moves the frame to the right

 Deletion – Removes a nucleotide; Moves the frame to the left

Summary of Mutations from errors in gene replication –

 (Normal sequence) THE CAT ATE THE RAT AND RAN FAR –
- (Point mutation) THE CAR ATE THE RAT AND RAN FAR
- (Frameshift deletion) THE CAA TET HER ATA NDR ANF AR
- (Frameshift addition) THE CAT TAT ETH ERA TAN DRA NFA R

Damage by Mutagens
Mutagen – A mutagen is a physical or chemical agent that can change genetic material

Physical Mutagens –
 Physical Mutagens include electromagnetic radiation such as x-rays, gamma rays and UV light

Non-disjunction and Aneuploidy

Non-disjunction – Failure of homologous chromosomes to separate properly during cell division

Aneuploidy – An abnormal number of chromosomes (Normal being 2)

 Monosomy – 1 chromosome
 Trisomy – 3 chromosomes

How Non-disjunction leads to aneuploidy –

Non-disjunction leads to aneuploidy, which is an abnormal number of chromosomes, because non-
disjunction is the failure of chromosomes to separate properly. This may result in an abnormal
number of ploidies that aren’t the typical 2, this includes outcomes such as monosomy and Trisomy.

Causes and effects of mutations

Mutations as a source of variation – Mutation changes DNA sequence/structure or chromosome
structure/number or permanent change in DNA, which creates new genetic/DNA
variation/polymorphism or new alleles

 Only process that creates new/unique alleles

 New/different alleles (which come from mutation) are needed to create novel combinations of
alleles/genotypes/individuals.
Biotechnology
Recombinant DNA Technology–
Recombinant DNA – The joining together of DNA molecules from two different species. The
recombined DNA molecule produces new genetic combinations

Process of making recombinant DNA –

Recombinant DNA is produced by first isolating a DNA sequence, then inserting it into the genome of
a different organism

1. Isolation (Restriction Enzymes)

o Restriction enzyme – Are groups of enzymes that ‘cut’ a strand of DNA into one of more pieces.
o DNA scissors – Restriction enzymes that cut DNA into fragments
 Two pieces of DNA are cut by the same restriction enzyme (they will produce fragments with
matching ‘sticky ends’)
- Cleavage of DNA chain occurs at the point indicated at the *

2. Insertion of DNA fragment (Plasmid Vectors)

o Plasmid – A small DNA molecule that is physically separated from chromosomal DNA and can
replicate independently
o Vector – A DNA molecule used in the transfer of foreign genetic material into another cell where
it can be replicated and/or expressed
 Under the same restriction enzyme that was removed the DNA fragment to make a single cut in
a plasmid the Plasmid vector is inserted back into a bacterium
 Plasmid acts as a vector and transfers donor gene into a prokaryotic cell

3. Joining of DNA (DNA ligase)

o DNA ligase – Enzymes that facilitates the joining of DNA strands together, seals gaps in DNA
backbone.
 DNA ligase seals gaps in DNA backbone. It will link the plasmid and the DNA fragment to make a
recombinant plasmid containing the gene.
 DNA ligase links the phosphate group of one DNA strand to the other DNA strand to form a
single sugar-phosphate backbone/combined piece of DNA.
4. Amplification of recombinant DNA (Bacterial Transformation)
 Plasmid moves into the cell and the bacterium is transformed
 Plasmid is replicated and carried in the new bacterial cells
 Production of identical copies of the gene is called gene cloning

Process of making recombinant DNA in terms of insertion of DNA fragments and joining of DNA –
 A restriction enzyme (endonuclease) is chosen to digest (cut) the selected plasmid at, or near,
the recognition site.
 The same restriction enzyme (endonuclease) is used to digest (cut) the target gene fragment.
 This usually produces complementary ‘sticky ends’ that join by base pairing after target gene is
inserted.
 DNA ligase is then used to catalyse a reaction which links the phosphate group of one DNA
strand to the hydroxyl group of the other DNA strand to form a single sugar-phosphate
backbone/combined piece of DNA.

DNA Profiling
DNA profi ling using polymerase chain reacti ons (PCR) and gel electrophoresis allow
the comparison of DNA Fragments

Polymerase Chain Reaction (PCR) – Technique that permits the amplification of any short sequence
of DNA
 Enables us to extract a tiny quantity of DNA from a single hair or drop of blood at the scene of a
crime and increase the amount of it a million times or more so that it can be analysed.
 Allows us to analyse the DNA from a bacterial or viral infection in order to diagnose an illness.
 Makes it possible to mass-produce DNA from fossil remains, extinct for millions of years.

Gel Electrophoresis – A laboratory method for separating mixtures of DNA, RNA or proteins
according to molecular size
 To separate DNA fragments, based on size.
 Can be used to determine paternity or criminals: DNA profiling.