Katrina Chung

Pathology
Medicine Semester 1

Learning outcome
Define gene, chromosome, genome, terms used in

gene alteration processes

Describe plasmid and its importance with relevant
examples
Describe the mechanisms of bacteria genetic
alteration and evaluate the consequences giving
examples
List factors that influence genetic change

Definition (1)
Gene
Segment of DNA that encodes for a specific
polypeptide/protein
- structural proteins, enzymes
Heritable
Chromosome
Main DNA material of a cell that contains the genes
Thread-like structure

Definition (2)
Genome
Total collection of genetic material in the cell
- includes chromosome and extrachromosomal
material
Determines ALL properties and hereditary
information of a bacterial cell

Plasmids (1)
Small, circular double-stranded (ds) DNA

- linear in some species of bacteria

Extra-chromosomal
Replicate independently of host chromosome
Heritable

(http://sandwalk.blogspot.com)

Plasmids (2)
Transferrable through

- conjugation
- transformation
- transduction
Non-essential for normal existence of bacteria cell
Confer additional properties
- resistance to antibiotics
- increase virulence

Plasmids (3)
Examples

F plasmid
R plasmid
bacteriosin plasmid
plasmids associated with pathogenicity

Gene alteration (1)

DNA replication normally produces identical genes in

all daughter cells

Error in replication
- result in altered gene
- encode an altered protein
- possible altered structure or function

Gene alteration (2)

Consequences of altered gene
Altered structure or function essential for existence of
cell
- cell may die
Altered structure or function non-essential
- cell may function as normal
- has less advantage
- may confer additional properties for better survival

Gene alteration (3)

Processes of gene alteration
Mutation
Recombination
Transformation
Conjugation
Gene transfer
Transduction

Gene alteration: mutation (1)

Spontaneous genetic processes
Chromosome composition altered during DNA

replication
Results
- minimal: point mutations
- extensive: multisite mutations

Gene alteration: mutation (2)

Types of mutation

- point mutations
changes in single nucleotide
insertions, substitution, deletions
- frame-shift mutation
reading frame altered further in gene
could result in totally different protein

Gene alteration: mutation (3)

Consequences of point mutation
No change
Missense

mutation
Nonsense
mutation

Gene alteration: mutation (4)

Mutagenic agents
Radioactive substances
UV light
X-rays
Purine/pyrimidine analogs
Alkylating agents
Chemicals: nitrous acid/ formaldehyde

Gene alteration: transformation (1)

DNA fragments

transferred from one

bacterial cell (donor cell)
to another cell (recipient
cell)
Competent recipient cell
Recombination of
chromosomal DNA

Gene alteration: transformation (2)

Transformation process
Donor cell
Cell death/ lysis
DNA fragments released

Recipient cell
Takes up the released
DNA fragments
Incorporates/ integrates
DNA fragments with its
chromosomal DNA

Gene alteration: transformation (3)

Examples of transformed bacteria
Bacteria
Staphylococcus aureus
Streptococcus pneumoniae
Haemophilus influenzae
Escharichia coli

Acquired property

Gene alteration: transformation (4)

Application

- recombinant vaccines
- insulin production
- interferon production

Gene alteration: transduction (1)

Transfer of DNA from one bacterial cell to another via a

bacteriophage
(VIRUS which infects bacteria)
Infects susceptible bacteria host cells
(cells with specific phage receptors)
Phage DNA enters host cell
- lytic infection
- lysogenic infection

http://textbookofbacteriology.net/phagestructure.jpg

Gene alteration: transduction (2)

Outcome of penetration of phage DNA into bacterial host cell

Lytic
infection

Lysogenic
infection

Host cell
undergo
lysis

Bacterial cell
replicates

New phage
particles
released

Phage DNA
replicates

Gene alteration: transduction (3)

Examples of transduced (lysogenized) bacteria
Bacteria
Corynebacterium diphtheriae
Clostridium botulinum
Streptococcus pyogenes
Vibrio chlorelae

Acquired property

Gene alteration: conjugation (1)

Transfer of genetic material

- from donor cell: male/ F+ cell

- to recipient cell: female/ F- cell
Requires physical contact between the two cells

Gene alteration: conjugation (2)

Conjugation process
Donor cells sex
pilus attached to
recipient cell

Synthesis of
complementary DNA
strands

Plasmid replicates
Plasmid transferred
to recipient cell

Recipient cell contains F

plasmid

Cells separate at the

end of transfer

References
Brooks GF (2007) Jawetz, Melnick & Adelbergs Medical Microbiology.

Boston: McGraw-Hill
Greenwood D, Slack R, Peutherer J (2002) Medical Microbiology. New
York: Churchill Livingstone
Acknowledgment
Dr Mala Maung and Dr Sushela Devi