Gene Mutations

Mutations
•  In any species, variations can be caused
•  Changes in environment
•  Changes in heredity constitution
•  More commonly by interaction between both

•  If any variation appears when environment

changes and is restored when the environment is
restored, then it is not inherited – Ex. Muscles –
Exercise
•  These are modifications – phenotypic differences
between organisms with similar genotype
 Mutations
•  Mutations are changes in the genetic makeup of an
individual, which can be qualitative or quantitative
•  Mutations are random in location
•  The effects of mutations can be positive, negative
or neutral
•  Mutations can be classified variously according to
•  Type of cells
•  Size and quality
•  Origin
 Type of Cells
•  Somatic VS Gametic Mutations
•  Somatic Mutations:
•  Occur in body cells / non-reproductive cells
•  Genetic and evolutionary consequences are insignificant, since
only single cells or their daughter cells are involved
•  However, if they occur during embryonic stage, impact is
significant as large proportion of cells is involved
•  Ex. Some cancerous growths

•  Gametic Mutations:
•  In sperms and ova
•  Heritable and immense genetic significance
•  They are the raw material for natural selection
 codons
three adjacent
nucleotides
build a particular
amino acid

Size & Quality

building blocks of proteins
stop codon
signals that the protein is
complete
20 amino acids made this way in
humans

Point & Gross Mutations Sources of Variation: genes

Genetic code library
http://www.bio.georgiasouthern.edu/b

Number of possible codons: 4 * 4

•  Point Mutations: can have serious effects (incomplete
* 4 = 64
proteins don't usually function)
61 of 64 code for amino acids
•  Occur in very small segment of DNA, a single nucleotide or a
3 are stop codons
Insertion AUG has double-duty
pair codesbase
Sources of Variation: genes Extra
"start"
for MET
codon
pairs are inserted into http://www.bio.geo
new location
•  Can be classified into Note redundancy in code (61 codons,
only 20 amino acids)
Deletion can have serious effects (incomplete
Deletion proteins don't usually function)
Basic types ofofmutations
Section DNA is lost or deleted

Substitution
Insertion Insertion
Frameshift
Deletion
Insertion Extra base pairs are inserted into
Frameshift
Protein-coding DNA is divided
new
into location
codons three bases long
Substitutionthus, insertions and deletions can
cause a gene's message to be
Substitution Deletionincorrectly
Exchanges one base for another
transmitted
could change a codon
Section
to one thatof DNAthe
encodes is same
lost or deleted
Mutations are random
amino acid in
location...no change in protein produced
Silent mutations
... but their effects are not!
to one
be that encodes a different amino
Frameshiftmay positive, negative, or neutral,
 Size & Quality
•  Deletion mutations result in FRAMESHIFT – causing a
wrong protein to be encoded by RNA

THE FAT CAT SAT

HEF ATC ATS AT

•  Frameshifts can cause great phenotypic changes

•  Gross Mutations:
•  Involve a greater portion of a gene or entire gene
•  Can occur due to rearrangement of genes within genome
 Origin
Spontaneous and Induced Mutations
•  Spontaneous – Occur naturally / randomly in
nature and their origin is unknown
•  Induced – Certain environmental conditions can
induce mutations
•  Agents that can induce mutations – Mutagens
•  Radiations – X Rays, Gamma Rays, Ultraviolet rays
•  Temperature
•  Chemicals – Some Alkoloids, Benzene, Sodium Azide