MUTASI GEN

(PROKARIOT)
Sri Agung Fitri Kusuma

DEFINISI

Varian

mutan

Wild type
Mutagen

fENOTIP
Genotip

Mutasi

PENGARUH MUTASI TERHADAP

AKTIVITAS PROTEIN

FENOTIPE PADA GENETIKA

BAKTERI
AUXOTROPHIC MUTANTS

RESISTANT
MUTANTS

Types of DNA Change

The simplest mutations are base changes, where one

base is converted to another. These can be
classified as either:
--transitions, where one purine is changed to another
purine (A -> G, for example), or one pyrimidine is changed
to another pyrimidine (T -> C, for example).
transversions, where a purine is substituted for a
pyrimidine, or a pyrimidine is substituted for a purine. For
example, A -> C.

Another simple type of mutation is the gain or loss f

one or a few bases.
Larger mutations include insertion of whole new
sequences, often due to movements of transposable
elements in the DNA or to chromosome changes
such as inversions or translocations.
Deletions of large segments of DNA also occurs.

TIPE MUTASI

Missense mutation
Nonsense mutation
Insertion
Deletion
Duplication
Frameshift mutation
Repeat expansion

Missense Mutation
This type of mutation is a change in one DNA base pair that
results in the substitution of one amino acid for another in
the protein made by a gene.

Nonsense Mutation
A nonsense mutation is also a change in one DNA base pair.
Instead of substituting one amino acid for another, however,
the altered DNA sequence prematurely signals the cell to stop
building a protein. This type of mutation results in a shortened
protein that may function improperly or not at all.

Insertion
An insertion changes the number of DNA bases in a gene
by adding a piece of DNA. As a result, the protein made
by the gene may not function properly.

Deletion
A deletion changes the number of DNA bases by removing a
piece of DNA. Small deletions may remove one or a few base
pairs within a gene, while larger deletions can remove an
entire gene or several neighboring genes. The deleted DNA
may alter the function of the resulting protein(s).

Duplication
A duplication consists of a piece of DNA that is abnormally
copied one or more times. This type of mutation may alter
the function of the resulting protein.

Frameshift
Mutation
occurs
when the addition

This type of mutation

or loss of DNA
bases changes a gene's reading frame. A reading frame consists of
groups of 3 bases that each code for one amino acid. A frameshift
mutation shifts the grouping of these bases and changes the code
for amino acids. The resulting protein is usually nonfunctional.
Insertions, deletions, and duplications can all be frameshift
mutations.

Repeat Expansion
Nucleotide repeats are short DNA sequences that are
repeated a number of times in a row. For example, a
trinucleotide repeat is made up of 3-base-pair sequences,
and a tetranucleotide repeat is made up of 4-base-pair
sequences. A repeat expansion is a mutation that increases
the number of times that the short DNA sequence is
repeated. This type of mutation can cause the resulting
protein to function improperly

MUTAGEN &
DNA REPAIR

PENYEBAB MUTASI
Base analogs
DNA polimerase

kesalahan replikasi oleh

Faktor lingkungan : panas, radiasi

Zat
kimia
:
alkilasi,
deaminasi,
penginterkalasi, oksigen reaktif

zat

DNA REPAIR

SPECIFIC REPAIR
GENERAL REPAIR

SPECIFIC REPAIR

DEAMINASI BASA
Hilangnya gugus amino dari adenine, cytosine dan
guanine
Spontan atau karena zat kimia tertentu (deaminating
agent)
Deaminating agent :
hydroxylamine : deaminasi cytosine (GC
vitro

AT), in

Bisulfite : deaminasi cytosine pada ssDNA, site

directed mutagenesis
Nitrous acid : deaminasi adenine, cytosine dan
guanine (GC
AT, AT
GC), in vitro dan in vivo
Repair Deaminasi basa :
DNA glikosilase

Deaminasi basa oleh Nitrous acid

Repair Deaminasi Basa

DNA
glikosilase

AP
endonuklease

Deaminasi 5-methylcytosine
Mutasi menghasilkan timin
Pada E. coli biasanya terjadi pada 5CCWGG3/
3GGWCC5 (W =AT atau TA)
GT mismatch
Repair : vsr endonuklease,
Vsr (endonuklease) berikatan dgn mismatch TG
Pemotongan setelah T pada urutan 5CmCAGG3/3GGTTC5

OKSIGEN REAKTIF
Bentuk : radikal superoksida, hidrogen peroksida,
radikal hidroksil
Pada bakteri : superoksida dismutase, katalase,
peroksida reduktase
8-oxoG
(GO)
:
mutagenic
agent,
7,8_dihydro-8-oxoguanine
,
MISPAIR
ADENINE
Repair untuk 8-oxoG (GO) : gen mut
mutM : DNA glycosylase (remove
8 oxo G)
AP endonuclease
mutY : DNA glycosylase (remove
A)
mutT : mencegah 8-oxoG masuk
ke DNA

oxdized
DENGAN

Sistem Repair Gen mut

ALKILASI

Penambahan gugus alkil (CH3, CH3CH2, etc)

Oleh zat kimia ethyl methanasulfonate (EMS), methyl

methanesulfonate (MMS), nitrosoguanidine

Repair :
N-glikosilase spesifik, Ap endonuklease
Metiltransferase (repair alkilasi
(guanin) dan karbon 04 (timin) )
Adaptive respoonse

pada

karbon

06

Adaptive Response

Dimer Pirimidin
UV irradiation
Repair :
Photoreactivation : pholyase
N-glikosilase

Tipe Dimer Pirimidin

Repair Dimer Pirimidin

GENERAL DNA REPAIR MECHANISMS

Methyl-directed mismatch repair (mutS, mutL

dan mutH)
Nucleotide excision repair
Postreplication/ recombination repair (recA)
SOS inducible repair (lexA, recA, umuDC)

Methyl-directed Mismatch
Repair

Nucleotide Excision
Repair